FN Clarivate Analytics Web of Science
VR 1.0
PT J
AU Ayme-Southgate, A
   Philipp, RA
   Southgate, RJ
AF Ayme-Southgate, A.
   Philipp, R. A.
   Southgate, R. J.
TI Projectin PEVK domain, splicing variants and domain structure in basal
   and derived insects
SO INSECT MOLECULAR BIOLOGY
LA English
DT Article
DE projectin; elastic filaments; titin; alternative splicing; insect flight
ID MULTIPLE SEQUENCE ALIGNMENT; S2 HINGE REGIONS; FLIGHT MUSCLES;
   DROSOPHILA PROJECTIN; CARDIAC TITIN; PROTEIN; CONTRACTION; SENSITIVITY;
   EXPRESSION; ISOFORMS
AB The third elastic filament of striated muscles consists of giant proteins: titin (in vertebrates) and kettin/projectin (in insects). In all three proteins, elasticity is at least partly associated with the so-called PEVK domain. The projectin PEVK domains of diverse insects are highly divergent compared with an otherwise conserved protein organization. We present the characterization of the PEVK domain in two dragonflies and in human lice. A conserved segment at the end of the PEVK, the NH2-terminal conserved segment-1 (NTCS-1), may serve as an anchor point for projectin to either myosin or actin, providing a mechanical link. The analysis of alternative splicing variants identifies the shortest PEVK isoform as the predominant form in the flight muscles of several insects, possibly contributing to myofibrillar stiffness.
C1 [Ayme-Southgate, A.; Philipp, R. A.; Southgate, R. J.] Coll Charleston, Dept Biol, Charleston, SC 29401 USA.
C3 College of Charleston
RP Southgate, RJ (corresponding author), Coll Charleston, Dept Biol, 66 George St, Charleston, SC 29401 USA.
EM southgatea@cofc.edu
FU NIH, National Center for Research Resources [P20 RR-016461]
FX This research was supported by NIH Grant Number P20 RR-016461 from the
   National Center for Research Resources. Its contents are solely the
   responsibility of the authors and do not necessarily represent the
   official views of the NIH. We want to thank Dr J. Evans (USDA,
   Beltsville, MD, USA), Dr S. Brown (Kansas State University, KS, USA) and
   ICR Laboratories Inc. of Baltimore, MD, USA for providing the live
   insects. We want to thank Dr Marden (PennState University) for L.
   pulchella samples. We also want to acknowledge the Center for the
   Advancement of Genomics, J. Craig Venter Institute for making accessible
   the genome sequencing data for P. humanus before publication. Sequences
   are available in Genbank under accession # HQ824706 to HQ824714.
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NR 39
TC 6
Z9 7
U1 0
U2 6
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0962-1075
EI 1365-2583
J9 INSECT MOL BIOL
JI Insect Mol. Biol.
PD JUN
PY 2011
VL 20
IS 3
BP 347
EP 356
DI 10.1111/j.1365-2583.2011.01069.x
PG 10
WC Biochemistry & Molecular Biology; Entomology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Entomology
GA 758NW
UT WOS:000290172500007
PM 21349121
DA 2025-04-10
ER

PT J
AU Censarek, P
   Steger, G
   Paolini, C
   Hohlfeld, T
   Grosser, T
   Zimmermann, N
   Fleckenstein, D
   Schrör, K
   Weber, AA
AF Censarek, Petra
   Steger, Gerhard
   Paolini, Carla
   Hohlfeld, Thomas
   Grosser, Tilo
   Zimmermann, Norbert
   Fleckenstein, Diana
   Schroer, Karsten
   Weber, Artur-Aron
TI Alternative splicing of platelet cyclooxygenase-2 mRNA in patients after
   coronary artery bypass grafting
SO THROMBOSIS AND HAEMOSTASIS
LA English
DT Article
DE platelet COX-2; COX-2a; aspirin; thromboxane; CABG; qPCR
ID ASPIRIN RESISTANCE; THROMBOXANE A(2); INHIBITION; COX-2; EXPRESSION;
   DRUGS; THERAPY; DISEASE; RISK; ACETAMINOPHEN
AB Recently, we cloned from platelet mRNA a novel cyclooxygenase (COX)-2 splice variant, designated COX-2a, which is characterized by a partial deletion of exon 5.Preliminary studies of mRNA distribution of COX-2 isoforms in platelets from coronary artery bypass grafting (CABG) patients showed a variable increase in COX-2a mRNA expression after cardiac surgery.Thus, we assessed whether this variant may play a functional role in these patients.We report a marked (about 200-fold) increase in the expression of COX-2a mRNA after CABG. Evidence is presented that ribosomal frame-shifting may correct the coding sequence resulting in the expression of a full-length COX-2a protein. In addition, a reading frame-corrected COX-2a mutant (COX-2a Delta G) was generated by site-directed mutagenesis and expressed in COS-7 cells using an adenoviral expression system. However, COX-2a protein was not active in terms of prostaglandin formation. Thus, alternative mRNA splicing might represent an intriguing posttranscriptional mechanism to oppose a transcriptional activation of the COX-2 gene. Evolutionary, this mechanism may prevent COX-2-dependent thromboxane synthesis in the platelet, which would potentiate the likelihood of thrombosis; pharmacologically, this mechanism would prevent an aspirin-insensitive pathway of thromboxane formation.
C1 [Fleckenstein, Diana; Weber, Artur-Aron] Univ Duisburg Essen, Univ Klinikum Essen, Inst Pharmakol, D-45122 Essen, Germany.
   [Censarek, Petra; Paolini, Carla; Hohlfeld, Thomas; Schroer, Karsten] Univ Klinikum Duesseldorf, Inst Pharmakol & Klin Pharmakol, Dusseldorf, Germany.
   [Steger, Gerhard] Univ Dusseldorf, Inst Phys Biol, D-4000 Dusseldorf, Germany.
   [Grosser, Tilo] Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USA.
   [Grosser, Tilo] Univ Penn, Dept Pharmacol, Philadelphia, PA 19104 USA.
   [Zimmermann, Norbert] Bundesinst Arzneimittel & Med Prod, Bonn, Germany.
C3 University of Duisburg Essen; Heinrich Heine University Dusseldorf;
   University of Pennsylvania; University of Pennsylvania
RP Weber, AA (corresponding author), Univ Duisburg Essen, Univ Klinikum Essen, Inst Pharmakol, Hufelandstr 55, D-45122 Essen, Germany.
EM artur.weber@uk-essen.de
RI Weber, Artur-Aron/GOH-2864-2022; Grosser, Tilo/A-1057-2007
OI Grosser, Tilo/0000-0001-8569-8396
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NR 39
TC 16
Z9 21
U1 0
U2 2
PU SCHATTAUER GMBH-VERLAG MEDIZIN NATURWISSENSCHAFTEN
PI STUTTGART
PA HOLDERLINSTRASSE 3, D-70174 STUTTGART, GERMANY
SN 0340-6245
J9 THROMB HAEMOSTASIS
JI Thromb. Haemost.
PD DEC
PY 2007
VL 98
IS 6
BP 1309
EP 1315
DI 10.1160/TH07-05-0346
PG 7
WC Hematology; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology; Cardiovascular System & Cardiology
GA 241WV
UT WOS:000251687400024
PM 18064329
DA 2025-04-10
ER

PT J
AU Babaev, VR
   Porro, F
   Linton, ME
   Fazio, S
   Baralle, FE
   Muro, AF
AF Babaev, Vladimir R.
   Porro, Fabiola
   Linton, MacRae E.
   Fazio, Sergio
   Baralle, Francisco E.
   Muro, Andres F.
TI Absence of regulated splicing of fibronectin EDA exon reduces
   atherosclerosis in mice
SO ATHEROSCLEROSIS
LA English
DT Article
DE atherosclerosis; alternative splicing; fibronectin isoforms; macrophage;
   cholesterol uptake
ID DEFICIENT MICE; IN-VITRO; LACKING; LESIONS; MOUSE; GENE; EXPRESSION;
   MONOCYTES; GROWTH; DOMAIN
AB Atherosclerotic lesions are characterized by a profound alteration in the architecture of the arterial intima, with a marked increase of fibronectin (FN) and the appearance of the alternatively spliced FN variant containing the extra domain A (EDA). To analyze the role of FN isoforms in atherosclerotic lesion formation we utilized mouse strains devoid of EDA exon regulated splicing, which constitutively include (EDA(+/+)) or exclude (EDA(-/-)) the exon. Both mutant mice had a 40% reduction in atherosclerotic lesions after the atherogenic-diet treatment (mean +/- S.E., mu m(2); 22969 +/- 2185; 13660 +/- 1533; 14260 +/- 2501 for EDA(wt/wt), EDA(+/+) and EDA(-/-), respectively; p <= 0.01 ANOVA test) associated to a lower capacity of macrophages to uptake modified LDL and undergo foam-cell formation. Lesions in control mice were more numerous and bigger, with augmented and deeper macrophage infiltration, and increased FN expression in the sub-endothelial area. Previous experiments have shown that apoE(-/-)EDA(-/-) mice have a decreased number and size of atherosclerotic lesions and, on this basis, it has been proposed that the EDA domain has a pro-atherogenic role. Our data with the EDA(+/+) mice rules out this hypothesis and suggest that regulated splicing of the EDA exon of the FN gene is involved in progression of atherosclerosis, highlighting the importance of alternative splicing in regulating cellular processes. (C) 2007 Elsevier Ireland Ltd. All rights reserved.
C1 [Porro, Fabiola; Baralle, Francisco E.; Muro, Andres F.] Int Ctr Genet Engn & Biotechnol, I-34012 Trieste, Italy.
   [Babaev, Vladimir R.; Linton, MacRae E.; Fazio, Sergio] Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN USA.
C3 International Center for Genetic Engineering & Biotechnology (ICGEB);
   Vanderbilt University
RP Muro, AF (corresponding author), Int Ctr Genet Engn & Biotechnol, Padriciano 99, I-34012 Trieste, Italy.
EM muro@icgeb.org
RI Fazio, Serafino/ACI-6573-2022
OI Muro, Andres Fernando/0000-0002-9628-0494
FU NHLBI NIH HHS [R01 HL065709-08S1, R01 HL065709] Funding Source: Medline;
   NIDDK NIH HHS [DK59637, U24 DK059637-029003, U24 DK059637] Funding
   Source: Medline
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NR 28
TC 42
Z9 59
U1 0
U2 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
   IRELAND
SN 0021-9150
J9 ATHEROSCLEROSIS
JI Atherosclerosis
PD APR
PY 2008
VL 197
IS 2
BP 534
EP 540
DI 10.1016/j.atherosclerosis.2007.08.015
PG 7
WC Cardiac & Cardiovascular Systems; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 295DJ
UT WOS:000255454900006
PM 17897651
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Paraboschi, EM
   Cardamone, G
   Rimoldi, V
   Gemmati, D
   Spreafico, M
   Duga, S
   Soldà, G
   Asselta, R
AF Paraboschi, Elvezia Maria
   Cardamone, Giulia
   Rimoldi, Valeria
   Gemmati, Donato
   Spreafico, Marta
   Duga, Stefano
   Solda, Giulia
   Asselta, Rosanna
TI Meta-Analysis of Multiple Sclerosis Microarray Data Reveals
   Dysregulation in RNA Splicing Regulatory Genes
SO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
LA English
DT Article
DE alternative splicing; microarray; peripheral blood mononuclear cells;
   autoimmune neurodegenerative disorder; multiple sclerosis
ID CORONARY-ARTERY-DISEASE; NCBI GEO ARCHIVE; AXONAL DEGENERATION;
   EXPRESSION; TRANSCRIPTOME; AUTOIMMUNE; IMMUNE; PATHWAYS; RISK;
   NEURODEGENERATION
AB Abnormalities in RNA metabolism and alternative splicing (AS) are emerging as important players in complex disease phenotypes. In particular, accumulating evidence suggests the existence of pathogenic links between multiple sclerosis (MS) and altered AS, including functional studies showing that an imbalance in alternatively-spliced isoforms may contribute to disease etiology. Here, we tested whether the altered expression of AS-related genes represents a MS-specific signature. A comprehensive comparative analysis of gene expression profiles of publicly-available microarray datasets (190 MS cases, 182 controls), followed by gene-ontology enrichment analysis, highlighted a significant enrichment for differentially-expressed genes involved in RNA metabolism/AS. In detail, a total of 17 genes were found to be differentially expressed in MS in multiple datasets, with CELF1 being dysregulated in five out of seven studies. We confirmed CELF1 downregulation in MS (p = 0.0015) by real-time RT-PCRs on RNA extracted from blood cells of 30 cases and 30 controls. As a proof of concept, we experimentally verified the unbalance in alternatively-spliced isoforms in MS of the NFAT5 gene, a putative CELF1 target. In conclusion, for the first time we provide evidence of a consistent dysregulation of splicing-related genes in MS and we discuss its possible implications in modulating specific AS events in MS susceptibility genes.
C1 [Paraboschi, Elvezia Maria; Cardamone, Giulia] Univ Milan, Dipartimento Biotecnol Med & Med Traslaz, I-20133 Milan, Italy.
   [Rimoldi, Valeria; Duga, Stefano; Solda, Giulia; Asselta, Rosanna] Humanitas Univ, Dept Biomed Sci, I-20089 Milan, Italy.
   [Rimoldi, Valeria; Duga, Stefano; Solda, Giulia; Asselta, Rosanna] Humanitas Clin & Res Ctr, I-20089 Milan, Italy.
   [Gemmati, Donato] Univ Ferrara, Dept Med Sci, Ctr Haemostasis & Thrombosis, I-44121 Ferrara, Italy.
   [Spreafico, Marta] Alessandro Manzoni Hosp, Dept Transfus Med & Hematol, Azienda Osped Prov Lecco, I-23900 Lecce, Italy.
C3 University of Milan; Humanitas University; University of Ferrara
RP Soldà, G (corresponding author), Humanitas Univ, Dept Biomed Sci, Via Manzoni 113, I-20089 Milan, Italy.
EM elvezia.paraboschi@unimi.it; giulia.cardamone@studenti.unimi.it;
   valeria.rimoldi@humanitasresearch.it; d.gemmati@unife.it;
   ma.spreafico@ospedale.lecco.it; stefano.duga@hunimed.eu;
   giulia.solda@hunimed.eu; rosanna.asselta@hunimed.eu
RI Rimoldi, Valeria/AAB-4865-2020; Cardamone, Giulia/AAB-4192-2020; Duga,
   Stefano/F-8173-2014; Paraboschi, Elvezia Maria/K-6799-2016; Spreafico,
   Marta/C-5945-2014; Solda, Giulia/A-4053-2011; Asselta,
   Rosanna/AAC-2367-2019
OI Duga, Stefano/0000-0003-3457-1410; Paraboschi, Elvezia
   Maria/0000-0002-7935-798X; Cardamone, Giulia/0000-0002-4176-6710;
   Rimoldi, Valeria/0000-0002-5598-3986; Spreafico,
   Marta/0000-0003-3378-5513; Solda, Giulia/0000-0003-0972-610X; Asselta,
   Rosanna/0000-0001-5351-0619; Gemmati, Donato/0000-0001-6213-6120
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NR 62
TC 17
Z9 19
U1 0
U2 6
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
SN 1422-0067
J9 INT J MOL SCI
JI Int. J. Mol. Sci.
PD OCT
PY 2015
VL 16
IS 10
BP 23463
EP 23481
DI 10.3390/ijms161023463
PG 19
WC Biochemistry & Molecular Biology; Chemistry, Multidisciplinary
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Chemistry
GA CV4JD
UT WOS:000364232100021
PM 26437396
OA Green Published, gold, Green Submitted
DA 2025-04-10
ER

PT J
AU Hara, H
   Ohta, M
   Ohta, K
   Nishimura, M
   Obayashi, H
   Adachi, T
AF Hara, H
   Ohta, M
   Ohta, K
   Nishimura, M
   Obayashi, H
   Adachi, T
TI Isolation of two novel alternative splicing variants of allograft
   inflammatory factor-1
SO BIOLOGICAL CHEMISTRY
LA English
DT Article
DE allograft inflammatory factor-1; alternative splicing; EF-hand
ID FACTOR-I; EXPRESSION; PROTEINS; CLONING
AB Allograft inflammatory factor-1 (AIF-1) was initially cloned from rat cardiac allografts undergoing chronic rejection. AIF-1, possessing an EF-hand-like motif, is thought to be a Ca2+ binding protein, In this study, we identified two novel alternatively spliced variants of AIF-1 by reverse-transcription polymerase chain reaction. One variant encodes an AIF-1 protein that lacks 14 amino acids corresponding to one exon. The other variant encodes a truncated AIF-1 protein due to a frameshift introduced by an 85-bp insertion, and its C-terminal region differs from that of AIF-1, Interestingly, these variants have incomplete and no EF-hand-like motifs, respectively. The expression level of the latter variant is high in peripheral blood leukocytes, and it is selectively expressed in macrophage-like cell lines.
C1 Gifu Pharmaceut Univ, Lab Clin Pharmaceut, Gifu 5028585, Japan.
   Natl Utano Hosp, Clin Res Ctr, Kyoto 6168255, Japan.
   Kyoto Microbiol Inst, Kyoto 6078482, Japan.
C3 Gifu Pharmaceutical University
RP Hara, H (corresponding author), Gifu Pharmaceut Univ, Lab Clin Pharmaceut, 5-6-1 Mitahora Higashi, Gifu 5028585, Japan.
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NR 11
TC 10
Z9 12
U1 0
U2 0
PU WALTER DE GRUYTER & CO
PI BERLIN
PA GENTHINER STRASSE 13, D-10785 BERLIN, GERMANY
SN 1431-6730
J9 BIOL CHEM
JI Biol. Chem.
PD NOV
PY 1999
VL 380
IS 11
BP 1333
EP 1336
DI 10.1515/BC.1999.170
PG 4
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 267PW
UT WOS:000084369300011
PM 10614827
DA 2025-04-10
ER

PT J
AU Wang, GS
   Kearney, DL
   De Biasi, M
   Taffet, G
   Cooper, TA
AF Wang, Guey-Shin
   Kearney, Debra L.
   De Biasi, Mariella
   Taffet, George
   Cooper, Thomas A.
TI Elevation of RNA-binding protein CUGBP1 is an early event in an
   inducible heart-specific mouse model of myotonic dystrophy
SO JOURNAL OF CLINICAL INVESTIGATION
LA English
DT Article
ID MUSCLEBLIND PROTEINS; CARDIAC INVOLVEMENT; TRANSGENIC MICE; NUCLEAR
   FOCI; TYPE-1; RECEPTOR; DIFFERENTIATION; ABNORMALITIES; TRANSCRIPTS;
   MYOGENESIS
AB Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide expansion in the 3' untranslated region (3' UTR) of DM protein kinase (DMPK). The key feature of DM 1 pathogenesis is nuclear accumulation of RNA, which causes aberrant alternative splicing of specific pre-mRNAs by altering the functions of CUG-binding proteins (CUGBPs). Cardiac involvement occurs in more than 80% of individuals with DM1 and is responsible for up to 30% of disease-related deaths. We have generated an inducible and heart-specific DM1 mouse model expressing expanded CUG RNA in the context of DMPK 3' UTR that recapitulated pathological and molecular features of DM1 including dilated cardiomyopathy, arrhythmias, systolic and diastolic dysfunction, and misregulated alternative splicing. Combined in situ hybridization and immunofluorescent staining for CUGBP1 and CUGBP2, the 2 CUGBP1 and ETR-3 like factor (CELF) proteins expressed in heart, demonstrated elevated protein levels specifically in nuclei containing foci of CUG repeat RNA. A time-course study demonstrated that colocalization of MBNL1 with RNA foci and increased CUGBP1 occurred within hours of induced expression of CUG repeat RNA and coincided with reversion to embryonic splicing patterns. These results indicate that CUGBP1 upregulation is an early and primary response to expression of CUG repeat RNA.
C1 Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
   Baylor Coll Med, Dept Mol & Cell Biol, Houston, TX 77030 USA.
   Baylor Coll Med, Dept Med, Houston, TX 77030 USA.
   Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine; Baylor College
   of Medicine; Baylor College of Medicine
RP Cooper, TA (corresponding author), Baylor Coll Med, Dept Pathol, BCM 315,1 Baylor Plaza, Houston, TX 77030 USA.
EM tcooper@bcm.edu
RI De Biasi, Mariella/M-7646-2017; Wang, Guey-Shin/Q-3968-2018
OI Wang, Guey-Shin/0000-0003-4485-1811
FU NIAMS NIH HHS [R01 AR045653, R01AR45653] Funding Source: Medline; NIDA
   NIH HHS [R01 DA017173, R01DA017173] Funding Source: Medline
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NR 50
TC 153
Z9 176
U1 0
U2 6
PU AMER SOC CLINICAL INVESTIGATION INC
PI ANN ARBOR
PA 2015 MANCHESTER RD, ANN ARBOR, MI 48104 USA
SN 0021-9738
EI 1558-8238
J9 J CLIN INVEST
JI J. Clin. Invest.
PD OCT
PY 2007
VL 117
IS 10
BP 2802
EP 2811
DI 10.1172/JCI32308
PG 10
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA 216QP
UT WOS:000249894400012
PM 17823658
OA Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Brauch, KM
   Karst, ML
   Herron, KJ
   de Andrade, M
   Pellikka, PA
   Rodeheffer, RJ
   Michels, VV
   Olson, TM
AF Brauch, Katharine M.
   Karst, Margaret L.
   Herron, Kathleen J.
   de Andrade, Mariza
   Pellikka, Patricia A.
   Rodeheffer, Richard J.
   Michels, Virginia V.
   Olson, Timothy M.
TI Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial
   Dilated Cardiomyopathy
SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
LA English
DT Article
DE dilated cardiomyopathy; genetics; linkage analysis; mutation; RBM20
ID HEART-FAILURE; LUNG-TRANSPLANTATION; DISEASE; FREQUENCY; REGISTRY
AB Objectives We sought to identify a novel gene for dilated cardiomyopathy (DCM).
   Background DCM is a heritable, genetically heterogeneous disorder that remains idiopathic in the majority of patients. Familial cases provide an opportunity to discover unsuspected molecular bases of DCM, enabling pre-clinical risk detection.
   Methods Two large families with autosomal-dominant DCM were studied. Genome-wide linkage analysis was used to identify a disease locus, followed by fine mapping and positional candidate gene sequencing. Mutation scanning was then performed in 278 unrelated subjects with idiopathic DCM, prospectively identified at the Mayo Clinic.
   Results Overlapping loci for DCM were independently mapped to chromosome 10q25-q26. Deoxyribonucleic acid sequencing of affected individuals in each family revealed distinct heterozygous missense mutations in exon 9 of RBM20, encoding ribonucleic acid (RNA) binding motif protein 20. Comprehensive coding sequence analyses identified missense mutations clustered within this same exon in 6 additional DCM families. Mutations segregated with DCM (peak composite logarithm of the odds score >11.49), were absent in 480 control samples, and altered residues within a highly conserved arginine/serine (RS)-rich region. Expression of RBM20 messenger RNA was confirmed in human heart tissue.
   Conclusions Our findings establish RBM20 as a DCM gene and reveal a mutation hotspot in the RS domain. RBM20 is preferentially expressed in the heart and encodes motifs prototypical of spliceosome proteins that regulate alternative pre-messenger RNA splicing, thus implicating a functionally distinct gene in human cardiomyopathy. RBM20 mutations are associated with young age at diagnosis, end-stage heart failure, and high mortality. (J Am Coll Cardiol 2009; 54:930-41) (C) 2009 by the American College of Cardiology Foundation
C1 [Brauch, Katharine M.; Karst, Margaret L.; Herron, Kathleen J.; Olson, Timothy M.] Mayo Clin, Cardiovasc Genet Lab, Coll Med, Rochester, MN 55905 USA.
   [Pellikka, Patricia A.; Rodeheffer, Richard J.; Olson, Timothy M.] Mayo Clin, Dept Internal Med, Div Cardiovasc Dis, Coll Med, Rochester, MN 55905 USA.
   [Olson, Timothy M.] Mayo Clin, Dept Pediat & Adolescent Med, Div Pediat Cardiol, Coll Med, Rochester, MN 55905 USA.
   [de Andrade, Mariza] Mayo Clin, Dept Hlth Sci Res, Coll Med, Rochester, MN 55905 USA.
   [Michels, Virginia V.] Mayo Clin, Dept Med Genet, Coll Med, Rochester, MN 55905 USA.
C3 Mayo Clinic; Mayo Clinic; Mayo Clinic; Mayo Clinic; Mayo Clinic
RP Olson, TM (corresponding author), Mayo Clin, Cardiovasc Genet Lab, Coll Med, Stabile 5,200 1st St SW, Rochester, MN 55905 USA.
EM olson.timothy@mayo.edu
RI Pellikka, Patricia/N-5387-2014
OI Sharpe, Katharine M/0000-0002-1274-6315; Pellikka,
   Patricia/0000-0001-6800-3521; de Andrade, Mariza/0000-0003-2329-2686;
   Olson, Timothy/0000-0003-2716-9423
FU National Heart, Lung, and Blood Institute, National Institutes of Health
   [R01 HL071225]; Marriott Program for Heart Disease Research
FX From the *Cardiovascular Genetics Laboratory, dagger Division of
   Cardiovascular Diseases, Department of Internal Medicine, double dagger
   Division of Pediatric Cardiology, Department of Pediatric and Adolescent
   Medicine, Department of Health Sciences Research, and the parallel to
   Department of Medical Genetics, College of Medicine, Mayo Clinic,
   Rochester, Minnesota. This work was supported by the National Heart,
   Lung, and Blood Institute, National Institutes of Health (R01 HL071225),
   and the Marriott Program for Heart Disease Research.
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NR 34
TC 264
Z9 298
U1 0
U2 4
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0735-1097
EI 1558-3597
J9 J AM COLL CARDIOL
JI J. Am. Coll. Cardiol.
PD SEP 1
PY 2009
VL 54
IS 10
BP 930
EP 941
DI 10.1016/j.jacc.2009.05.038
PG 12
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 487WY
UT WOS:000269309900010
PM 19712804
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Ganassi, M
   Badodi, S
   Polacchini, A
   Baruffaldi, F
   Hughes, SM
   Hinits, Y
   Molinari, S
AF Ganassi, M.
   Badodi, S.
   Polacchini, A.
   Baruffaldi, F.
   Hughes, S. M.
   Hinits, Y.
   Molinari, S.
TI Distinct functions of alternatively spliced isoforms encoded by
   zebrafish mef2ca and mef2cb
SO BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
LA English
DT Article
DE Mef2ca; Mef2cb; Zebrafish; Skeletal muscle; Alternative splicing;
   Development
ID TRANSCRIPTION FACTOR MEF2C; SKELETAL-MUSCLE CELLS; MUTANT ZEBRAFISH;
   HOMEOBOX GENES; WILD-TYPE; DIFFERENTIATION; EXPRESSION; CHORDIN;
   EMBRYOS; ACTIVATION
AB In mammals, an array of MEF2C proteins is generated by alternative splicing (AS), yet specific functions have not been ascribed to each isoform. Teleost fish possess two MEF2C paralogues, mef2ca and mef2cb. In zebrafish, the Mef2cs function to promote cardiomyogenic differentiation and myofibrillogenesis in nascent skeletal myofibers. We found that zebrafish mef2ca and mef2cb are alternatively spliced in the coding exons 4-6 region and these splice variants differ in their biological activity. Of the two, mef2ca is more abundantly expressed in developing skeletal muscle, its activity is tuned through zebrafish development by AS. By 24 hpf, we found the prevalent expression of the highly active full length protein in differentiated muscle in the somites. The splicing isoform of mef2ca that lacks exon 5 (mef2ca 4-6), encodes a protein that has 50% lower transcriptional activity, and is found mainly earlier in development, before muscle differentiation. mef2ca transcripts including exon 5 (mef2ca 4-5-6) are present early in the embryo. Over-expression of this isoform alters the expression of genes involved in early dorso-ventral patterning of the embryo such as chordin, nodal related 1 and goosecoid, and induces severe developmental defects. AS of mef2cb generates a long splicing isoform in the exon 5 region (Mef2cbL) that predominates during somitogenesis. Mef2cbL contains an evolutionarily conserved domain derived from exonization of a fragment of intron 5, which confers the ability to induce ectopic muscle in mesoderm upon over-expression of the protein. Taken together, the data show that AS is a significant regulator of Mef2c activity. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Ganassi, M.; Badodi, S.; Polacchini, A.; Baruffaldi, F.; Molinari, S.] Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy.
   [Ganassi, M.; Hughes, S. M.; Hinits, Y.] Kings Coll London, Randall Div Cell & Mol Biophys, London SE1 1UL, England.
C3 Universita di Modena e Reggio Emilia; University of London; King's
   College London
RP Hinits, Y (corresponding author), 3rd Floor North,New Hunts House,Guys Campus, London SE1 1UL, England.
EM yaniv.hinits@kcl.ac.uk; susanna.molinari@unimore.it
RI Badodi, Sara/GNH-3404-2022; Hinits, Yaniv/AAP-6148-2020; Hughes,
   Simon/S-1073-2016; Ganassi, Massimo/HNQ-5479-2023; Molinari,
   Susanna/E-1670-2015; Battini, Renata/F-2113-2015
OI Hughes, Simon/0000-0001-8227-9225; POLACCHINI,
   ALESSIO/0000-0001-7555-1024; Ganassi, Massimo/0000-0003-3163-9707;
   Badodi, Sara/0000-0002-8407-8336; Hinits, Yaniv/0000-0002-2682-1603;
   Molinari, Susanna/0000-0003-1649-4407; Battini,
   Renata/0000-0003-0876-4294
FU Fondazione Cassa di Risparmio di Modena; progetto internazionale bando
   [E91J10000170003]; AFM (Association Francaise contre les Myopathies)
   [16252]; Optistem (European collaborative project) [HEALTH-2007-1.4-6];
   EMBO [ASTF 414.00-2009]; EufishBioMed (COST action) [BM0804,
   141111-012508]; University of Modena; Reggio Emilia (Bando di Mobilita);
   Myores (Exchange Fund); CIB (Consorzio Italiano Biotecnologie); CIB
   (Consorzio Italian Biotecnologie); Medical Research Council [G1001029];
   UK British Heart Foundation Centres of Excellence at King's College
   London, Imperial College London; University of Edinburgh; University of
   Oxford; MRC [G1001029] Funding Source: UKRI
FX Research support in the laboratory of S. Molinari was provided by:
   Fondazione Cassa di Risparmio di Modena, progetto internazionale bando
   2010 (grant no E91J10000170003), AFM (Association Francaise contre les
   Myopathies) (grant no16252) and Optistem (European collaborative project
   HEALTH-2007-1.4-6). M.G. was a recipient of short term fellowships from
   EMBO (ref. ASTF 414.00-2009), EufishBioMed (COST action BM0804, ref code
   141111-012508), University of Modena and Reggio Emilia (Bando di
   Mobilita), Myores (Exchange Fund) and CIB (Consorzio Italiano
   Biotecnologie) that allowed him to visit and perform experiments in the
   laboratory of S. M. Hughes. A.P. was a recipient of a short-term
   fellowship from CIB (Consorzio Italian Biotecnologie) that supported his
   visit to the laboratory of S. M. Hughes. S. M. H. is a Medical Research
   Council Scientist with Programme Grant G1001029 support that funded Y.H.
   and studies in the Hughes laboratory. Y. H. was also supported by a
   collaborative grant from the UK British Heart Foundation Centres of
   Excellence at King's College London, Imperial College London and the
   Universities of Edinburgh and Oxford.
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NR 72
TC 21
Z9 23
U1 0
U2 13
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1874-9399
EI 0006-3002
J9 BBA-GENE REGUL MECH
JI Biochim. Biophys. Acta-Gene Regul. Mech.
PD JUL
PY 2014
VL 1839
IS 7
BP 559
EP 570
DI 10.1016/j.bbagrm.2014.05.003
PG 12
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA AK7GW
UT WOS:000338597700003
PM 24844180
OA Green Submitted, hybrid, Green Published
DA 2025-04-10
ER

PT J
AU Liao, P
   Yu, DJ
   Lu, SQ
   Tang, ZZ
   Liang, MC
   Zeng, SH
   Lin, WM
   Soong, TW
AF Liao, P
   Yu, DJ
   Lu, SQ
   Tang, ZZ
   Liang, MC
   Zeng, SH
   Lin, WM
   Soong, TW
TI Smooth muscle-selective alternatively spliced exon generates functional
   variation in Cav1.2 calcium channels
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID PRE-MESSENGER-RNA; CA2+ CHANNELS; ALPHA(1C) SUBUNIT; ALPHA-1 SUBUNIT;
   CURRENT-DENSITY; N-TERMINUS; INACTIVATION; MODULATION; EXPRESSION;
   LOCALIZATION
AB Voltage-gated calcium channels play a major role in many important processes including muscle contraction, neurotransmission, excitation-transcription coupling, and hormone secretion. To date, 10 calcium channel alpha(1)-subunits have been reported, of which four code for L-type calcium channels. In our previous work, we uncovered by transcript-scanning the presence of 19 alternatively spliced exons in the L-type Ca(v)1.2 alpha(1)-subunit. Here, we report the smooth muscle-selective expression of alternatively spliced exon 9* in Ca(v)1.2 channels found on arterial smooth muscle. Specific polyclonal antibody against exon 9* localized the intense expression of 9*-containing Ca(v)1.2 channels on the smooth muscle wall of arteries, but the expression on cardiac muscle was low. Whole-cell patch clamp recordings of the 9*-containing Ca(v)1.2 channels in HEK293 cells demonstrated -9 and -11-mV hyperpolarized shift in voltage-dependent activation and current-voltage relationships, respectively. The steady-state inactivation property and sensitivity to blockade by nifedipine of the +/-exon 9* splice variants were, however, not significantly different. Such cell-selective expression of an alternatively spliced exon strongly indicates the customization and fine tuning of calcium channel functions through alternative splicing of the pore-forming alpha(1)-subunit. The generation of proteomic variations by alternative splicing of the calcium channel Ca(v)1.2 alpha(1)-subunit can potentially provide a flexible mechanism for muscle or neuronal cells to respond to various physiological signals or to diseases.
C1 Natl Univ Singapore, Dept Physiol, Fac Med, Singapore 117597, Singapore.
   Natl Inst Neurosci, Singapore 308433, Singapore.
   Johns Hopkins Univ, Sch Med, Dept Biomed Engn, Baltimore, MD 21205 USA.
   Ngee Ann Polytech, Singapore 599489, Singapore.
C3 National University of Singapore; National Neuroscience Institute (NNI);
   Johns Hopkins University
RP Natl Univ Singapore, Dept Physiol, Fac Med, Blk MD9,2 Med Dr, Singapore 117597, Singapore.
EM phsstw@nus.edu.sg
RI Liao, Ping/LBI-1504-2024
OI Liang, Mui Cheng/0000-0003-1208-0733; Liao, Ping/0000-0002-6205-4042;
   Soong, Tuck Wah/0000-0002-0876-0325
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NR 44
TC 74
Z9 86
U1 0
U2 3
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI ROCKVILLE
PA 11200 ROCKVILLE PIKE, SUITE 302, ROCKVILLE, MD, UNITED STATES
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD NOV 26
PY 2004
VL 279
IS 48
BP 50329
EP 50335
DI 10.1074/jbc.M409436200
PG 7
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 872SU
UT WOS:000225229500096
PM 15381693
DA 2025-04-10
ER

PT J
AU Ebert, AM
   McAnelly, CA
   Srinivasan, A
   Mueller, RL
   Garrity, DB
   Garrity, DM
AF Ebert, Alicia M.
   McAnelly, Catherine A.
   Srinivasan, Ashok
   Mueller, Rachel Lockridge
   Garrity, David B.
   Garrity, Deborah M.
TI The calcium channel β2 (CACNB2) subunit repertoire in teleosts
SO BMC MOLECULAR BIOLOGY
LA English
DT Article
ID CHANNEL BETA-SUBUNITS; CALCIUM-CHANNELS; CA2+ CHANNELS; REGIONAL
   EXPRESSION; GENOME DUPLICATION; ALPHA(1) SUBUNIT; SPLICE VARIANTS; HUMAN
   HEART; GENE; ZEBRAFISH
AB Background: Cardiomyocyte contraction is initiated by influx of extracellular calcium through voltage-gated calcium channels. These oligomeric channels utilize auxiliary beta subunits to chaperone the pore-forming alpha subunit to the plasma membrane, and to modulate channel electrophysiology [1]. Several beta subunit family members are detected by RT-PCR in the embryonic heart. Null mutations in mouse beta 2, but not in the other three beta family members, are embryonic lethal at E10.5 due to defects in cardiac contractility [2]. However, a drawback of the mouse model is that embryonic heart rhythm is difficult to study in live embryos due to their intra-uterine development. Moreover, phenotypes may be obscured by secondary effects of hypoxia. As a first step towards developing a model for contributions of beta subunits to the onset of embryonic heart rhythm, we characterized the structure and expression of beta 2 subunits in zebrafish and other teleosts.
   Results: Cloning of two zebrafish beta 2 subunit genes (beta 2.1 and beta 2.2) indicated they are membrane-associated guanylate kinase (MAGUK)-family genes. Zebrafish beta 2 genes show high conservation with mammals within the SH3 and guanylate kinase domains that comprise the "core" of MAGUK proteins, but beta 2.2 is much more divergent in sequence than beta 2.1. Alternative splicing occurs at the N-terminus and within the internal HOOK domain. In both beta 2 genes, alternative short ATG-containing first exons are separated by some of the largest introns in the genome, suggesting that individual transcript variants could be subject to independent cis-regulatory control. In the Tetraodon nigrovidis and Fugu rubripes genomes, we identified single beta 2 subunit gene loci. Comparative analysis of the teleost and human beta 2 loci indicates that the short 5' exon sequences are highly conserved. A subset of 5' exons appear to be unique to teleost genomes, while others are shared with mammals. Alternative splicing is temporally and spatially regulated in embryo and adult. Moreover, a different subset of spliced beta 2 transcript variants is detected in the embryonic heart compared to the adult.
   Conclusion: These studies refine our understanding of beta 2 subunit diversity arising from alternative splicing, and provide the groundwork for functional analysis of beta 2 subunit diversity in the embryonic heart.
C1 [Ebert, Alicia M.; McAnelly, Catherine A.; Mueller, Rachel Lockridge; Garrity, David B.; Garrity, Deborah M.] Colorado State Univ, Dept Biol, Ft Collins, CO 80523 USA.
   [Srinivasan, Ashok] NHLBI, NIH, Bethesda, MD 20892 USA.
C3 Colorado State University System; Colorado State University Fort
   Collins; National Institutes of Health (NIH) - USA; NIH National Heart
   Lung & Blood Institute (NHLBI)
RP Garrity, DM (corresponding author), Colorado State Univ, Dept Biol, Ft Collins, CO 80523 USA.
EM amebert@lamar.colostate.edu; cmcanell@holly.colostate.edu;
   srinivasana@mail.nih.gov; rachel.mueller@colostate.edu;
   david.garrity@colostate.edu; deborah.garrity@colostate.edu
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   TETRAODON GENOME BRO
NR 85
TC 10
Z9 14
U1 0
U2 4
PU BMC
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-2199
J9 BMC MOL BIOL
JI BMC Mol. Biol.
PD APR 17
PY 2008
VL 9
AR 38
DI 10.1186/1471-2199-9-38
PG 16
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 296SU
UT WOS:000255566900001
PM 18419826
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Molina, E
   Hermida, J
   López-Sagaseta, J
   Puy, C
   Montes, R
AF Molina, Eva
   Hermida, Jose
   Lopez-Sagaseta, Jacinto
   Puy, Cristina
   Montes, Ramon
TI The functional properties of a truncated form of endothelial cell
   protein C receptor generated by alternative splicing
SO HAEMATOLOGICA
LA English
DT Article
DE endothelial protein C receptor; endothelium; protein C; factor Vila;
   alternative splicing
AB Background
   A soluble form of endothelial cell protein C receptor (sEPCR) is generated by shedding of the cellular form. sEPCR binds to protein C and factor VIIa and inhibits both the activation of protein C and the activity of activated protein C and factor Vila. High sEPCR levels may increase the risk of thrombosis. We wanted to explore the possibility of detecting soluble endothelial cell protein C receptor forms generated by alternative splicing.
   Design and Methods
   Reverse transcriptase polymerase chain reaction was used to look for new forms of endothelial cell protein C receptor. A yeast expression system was used to generate sufficient amounts of the distinct sEPCR forms. Surface plasmon resonance experiments, chromogenic assays, clotting assays and immunoassays were subsequently performed to characterize a new form of sEPCR that was found.
   Results
   We demonstrated, by reverse transcriptase polymerase chain reaction and sequencing, the existence of a new, soluble form of endothelial cell protein C receptor generated by alternative splicing, in which the transmembrane region is replaced by a 56-residue tail (tEPCR). Its cDNA was present in human umbilical vein endothelial cells and in most tissues as well as in lung cancer cells. tEPCR was not located in the membrane of transfected cells. We demonstrated that tEPCR binds to protein C and factor Vila. tEPCR blocked the generation of activated protein C and inhibited the activity of both activated protein C and factor Vila. tEPCR was detected, by immunoassays, in the supermatant of lung cancer cells and human umbilical vein endothelial cells.
   Conclusions
   A truncated form of alternatively spliced endothelial cell protein C receptor was detected in the endothelium and cancer cells. tEPCR behaves as sEPCR generated by shedding of the cellular endothelial cell protein C receptor.
C1 Univ Navarra, Clin Univ Sch Med, Ctr Appl Med Res, Haematol Dept, Pamplona, Spain.
   Univ Navarra, Clin Univ Sch Med, Ctr Appl Med Res, Div Cardiovasc Sci,Lab Thrombosis & Haemostasis, Pamplona, Spain.
C3 University of Navarra; University of Navarra
RP Montes, R (corresponding author), Univ Navarra, Lab Thrombosis & Haemostasis, Div Cardiovasc Sci, Ctr Appl Med Res CIMA, Ave Pio XII 55, Pamplona 31008, Spain.
EM rmontes@unav.es
RI López-Sagaseta, Jacinto/C-1987-2019; Hermida, Jose/L-4616-2018
OI LOPEZ SAGASETA, JACINTO/0000-0002-7774-4361; Molina Buey,
   Eva/0000-0002-5989-2117
FU Union Temporal de Empresas project CIMA; Ministerio de Educacion y
   Ciencia [SAF 200308706]; Instituto de Salud Carlos III [PI051178, RECAVA
   RD/0014/0008]; Fundacion Mutua Madrilena; Health Department, Gobierno de
   Navarra [12/2006]
FX this work was supported through the Union Temporal de Empresas project
   CIMA and by grants from the Ministerio de Educacion y Ciencia (SAF
   200308706), Instituto de Salud Carlos III (PI051178, RECAVA
   RD/0014/0008), Fundacion Mutua Madrilena and from the Health Department,
   Gobierno de Navarra (12/2006).
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NR 19
TC 9
Z9 11
U1 0
U2 3
PU FERRATA STORTI FOUNDATION
PI PAVIA
PA VIA GIUSEPPE BELLI 4, 27100 PAVIA, ITALY
SN 0390-6078
J9 HAEMATOLOGICA
JI Haematologica
PD MAY 31
PY 2008
VL 93
IS 6
BP 878
EP 884
DI 10.3324/haematol.12376
PG 7
WC Hematology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology
GA VI7ET
UT WOS:000510246300016
PM 18443268
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Kempna, P
   Ricciarelli, R
   Azzi, A
   Zingg, JM
AF Kempna, Petra
   Ricciarelli, Roberta
   Azzi, Angelo
   Zingg, Jean-Marc
TI Alternative splicing and gene polymorphism of the human TAP3/SEC14L4
   gene
SO MOLECULAR BIOLOGY REPORTS
LA English
DT Article
DE Sec14-like proteins; Tocopherol; Phospholipids; Vitamin E; Splicing;
   Polymorphism
ID TOCOPHEROL-ASSOCIATED PROTEIN; HUMAN SEC14P-LIKE PROTEINS;
   PROSTATE-CANCER; REDUCED EXPRESSION; VITAMIN-E;
   CHOLESTEROL-BIOSYNTHESIS; RETINITIS-PIGMENTOSA; IN-VITRO; ALPHA; BINDING
AB Three closely related human SEC14p-like proteins (hTAP1, hTAP2, hTAP3, or SEC14L2, SEC14L3, SEC14L4, respectively) have been described that are related to the Saccharomyces cerevisiae SEC14 protein. These proteins may participate in intracellular lipid transport and influence regulatory lipid-dependent events. Here we report the isolation of an alternatively spliced hTAP3 cDNA and a polymorphism within the coding region of the hTAP3/SEC14L4 gene.
C1 [Kempna, Petra] Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Bern, Switzerland.
   [Ricciarelli, Roberta] Univ Genoa, Dept Expt Med, Genoa, Italy.
   [Azzi, Angelo; Zingg, Jean-Marc] Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland.
C3 University of Bern; University Hospital of Bern; University of Genoa;
   University of Bern
RP Zingg, JM (corresponding author), Tufts Univ, Vasc Biol Lab, Off 621, JM USDA Human Nutr Res Ctr Aging, 711 Washington St, Boston, MA 02111 USA.
EM Jean-Marc.Zingg@tufts.edu
RI Zingg, Jean-Marc/H-6960-2019; Ricciarelli, Roberta/AAE-8063-2019
OI Ricciarelli, Roberta/0000-0002-2053-2501
FU Swiss National Science Foundation
FX This work was supported by the Swiss National Science Foundation.
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   Zingg JM, 2002, ARTERIOSCL THROM VAS, V22, P412, DOI 10.1161/hq0302.104517
NR 34
TC 7
Z9 7
U1 0
U2 5
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0301-4851
EI 1573-4978
J9 MOL BIOL REP
JI Mol. Biol. Rep.
PD OCT
PY 2010
VL 37
IS 7
BP 3503
EP 3508
DI 10.1007/s11033-009-9943-2
PG 6
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 652ES
UT WOS:000281985400061
PM 20012369
OA Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Li, SJ
   Guo, W
   Schmitt, BM
   Greaser, ML
AF Li, Shijun
   Guo, Wei
   Schmitt, Benjamin M.
   Greaser, Marion L.
TI Comprehensive analysis of titin protein isoform and alternative splicing
   in normal and mutant rats
SO JOURNAL OF CELLULAR BIOCHEMISTRY
LA English
DT Article
DE TITIN ISOFORM TRANSITION; EXON SKIPPING; N2B; MIDDLE Ig AND PEVK
ID PASSIVE TENSION; FILAMENT STRUCTURE; ELASTIC PROTEIN; STRIATED-MUSCLE;
   CARDIAC-MUSCLE; GIANT PROTEINS; ALPHA-ACTININ; Z-DISC; M-LINE;
   EXPRESSION
AB Titin is a giant protein with multiple functions in cardiac and skeletal muscles. Rat cardiac titin undergoes developmental isoform transition from the neonatal 3.7?MDa N2BA isoform to primarily the adult 2.97?MDa N2B isoform. An autosomal dominant mutation dramatically altered this transformation. Titins from eight skeletal muscles: Tibialis Anterior (TA), Longissimus Dorsi (LD) and Gastrocnemius (GA), Extensor Digitorum Longus (ED), Soleus (SO), Psoas (PS), Extensor Oblique (EO), and Diaphram (DI) were characterized in wild type and in homozygous mutant (Hm) rats with a titin splicing defect. Results showed that the developmental reduction in titin size is eliminated in the mutant rat so that the titins in all investigated skeletal muscles remain large in the adult. The alternative splicing of titin mRNA was found repressed by this mutation, a result consistent with the large titin isoform in the mutant. The developmental pattern of titin mRNA alternative splicing differs between heart and skeletal muscles. The retention of intron 49 reveals a possible mechanism for the absence of the N2B unique region in the expressed titin protein of skeletal muscle. J. Cell. Biochem. 113: 12651273, 2012. (c) 2011 Wiley Periodicals, Inc.
C1 [Li, Shijun; Guo, Wei; Schmitt, Benjamin M.; Greaser, Marion L.] Univ Wisconsin Madison, Dept Anim Sci, Muscle Biol Lab, Madison, WI 53706 USA.
C3 University of Wisconsin System; University of Wisconsin Madison
RP Greaser, ML (corresponding author), Univ Wisconsin Madison, Dept Anim Sci, Muscle Biol Lab, 1805 Linden Dr, Madison, WI 53706 USA.
EM mgreaser@ansci.wisc.edu
RI Greaser, Marion/C-6147-2012; guo, wei/E-8906-2012
OI guo, wei/0000-0002-9158-8107
FU National Institutes of Health [HL77196]; Hatch [1556]; College of
   Agricultural & Life Sciences, University of Wisconsin-Madison
FX Grant sponsor: National Institutes of Health; Grant number: HL77196;
   Grant sponsor: Hatch; Grant number: 1556.This work was supported by the
   College of Agricultural & Life Sciences, University of Wisconsin-Madison
   and by grants from the National Institutes of Health (HL77196) and Hatch
   1556.
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NR 38
TC 28
Z9 34
U1 0
U2 7
PU WILEY-BLACKWELL
PI MALDEN
PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA
SN 0730-2312
J9 J CELL BIOCHEM
JI J. Cell. Biochem.
PD APR
PY 2012
VL 113
IS 4
BP 1265
EP 1273
DI 10.1002/jcb.23459
PG 9
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 898EN
UT WOS:000300719000020
PM 22105831
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Mankodi, A
   Lin, XY
   Blaxall, BC
   Swanson, MS
   Thornton, CA
AF Mankodi, A
   Lin, XY
   Blaxall, BC
   Swanson, MS
   Thornton, CA
TI Nuclear RNA foci in the heart in myotonic dystrophy
SO CIRCULATION RESEARCH
LA English
DT Article
DE myotonic dystrophy; CUG repeats; RNA foci; muscleblind; alternative
   splicing
ID CARDIAC CONDUCTION SYSTEM; SKELETAL-MUSCLE; BINDING PROTEIN; REPEAT
   TRANSCRIPTS; MESSENGER-RNA; TYPE-1; ABNORMALITIES; INVOLVEMENT;
   EXPANSIONS; DISRUPTION
AB The disease mechanism underlying myotonic dystrophy type 1 (DM1) pathogenesis in skeletal muscle may involve sequestration of RNA binding proteins in nuclear foci of expanded poly(CUG) RNA. Here we report evidence for a parallel mechanism in the heart. Accumulation of expanded poly(CUG) RNA in nuclear foci is associated with sequestration of muscleblind proteins and abnormal regulation of alternative splicing in DM1 cardiac muscle. A toxic effect of RNA with an expanded repeat may contribute to cardiac disease in DM1.
C1 Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA.
   Univ Rochester, Med Ctr, Dept Neurosci, Rochester, NY 14642 USA.
   Univ Rochester, Med Ctr, Cardiovasc Res Inst, Rochester, NY 14642 USA.
   Univ Florida, Dept Mol Genet & Microbiol, Gainesville, FL 32611 USA.
C3 University of Rochester; University of Rochester; University of
   Rochester; State University System of Florida; University of Florida
RP Univ Rochester, Med Ctr, Dept Neurol, Box 673,601 Elmwood Ave, Rochester, NY 14642 USA.
EM Charles_Thornton@URMC.Rochester.Edu
OI Mankodi, Ami/0000-0002-5131-7767; Swanson, Maurice/0000-0001-6245-5367
FU NIAMS NIH HHS [AR49077, AR48143] Funding Source: Medline; NINDS NIH HHS
   [NS48843] Funding Source: Medline
CR Alyonycheva T, 1997, CIRC RES, V80, P665, DOI 10.1161/01.RES.80.5.665
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NR 31
TC 83
Z9 99
U1 0
U2 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD NOV 25
PY 2005
VL 97
IS 11
BP 1152
EP 1155
DI 10.1161/01.RES.0000193598.89753.e3
PG 4
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 986OZ
UT WOS:000233460900013
PM 16254211
OA Bronze
DA 2025-04-10
ER

PT J
AU Wahbi, K
   Algalarrondo, V
   Bécane, HM
   Fressart, V
   Beldjord, C
   Azibi, K
   Lazarus, A
   Berber, N
   Radvanyi-Hoffman, H
   Stojkovic, T
   Béhin, A
   Laforêt, P
   Eymard, B
   Hatem, S
   Duboc, D
AF Wahbi, Karim
   Algalarrondo, Vincent
   Becane, Henri Marc
   Fressart, Veronique
   Beldjord, Cherif
   Azibi, Kamel
   Lazarus, Arnaud
   Berber, Nawal
   Radvanyi-Hoffman, Helene
   Stojkovic, Tanya
   Behin, Anthony
   Laforet, Pascal
   Eymard, Bruno
   Hatem, Stephane
   Duboc, Denis
TI Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy
   type 1
SO ARCHIVES OF CARDIOVASCULAR DISEASES
LA English
DT Article
DE Myotonic dystrophy type 1; Brugada syndrome; SCN5A; Cardiac sodium
   channel Na(v)1.5; Human; Alternative splicing
ID BUNDLE-BRANCH BLOCK; CONDUCTION SYSTEM; MUTATION; HEART; PREVALENCE;
   DEATH
AB Background. - In patients with myotonic dystrophy type 1 (DM1), the mechanisms underlying sudden cardiac death, which occurs in up to 1/3 of patients, are unclear.
   Aims. - To study the potential role of Brugada syndrome in ventricular tachyarrhythmias and sudden death in DM1 patients.
   Methods. - We screened 914 adult patients included in the DM1 Heart Registry during 2000-2009 for the presence of type 1 Brugada pattern on electrocardiogram (ECG). We also performed direct sequencing of SCN5A in patients with Brugada pattern. Further, we analysed SCN5A splicing on ventricular myocardial specimens harvested during cardiac transplantation in a 45-year-old patient with DM1 and three controls with inherited dilated cardiomyopathy.
   Results. - A type 1 Brugada pattern was present on the ECG of seven of 914 patients (0.8%), including five with a history of sustained ventricular tachyarrhythmia or sudden death, who fulfilled the criteria for Brugada syndrome. SCN5A sequencing was normal in all patients. Ventricular myocardial specimen analysis displayed abnormal splicing of SCN5A exon 6, characterized by over-expression of the 'neonatal' isoform, called exon 6A, in the patient with DM1, but not from the controls.
   Conclusion. - Our findings suggest a potential implication of Brugada syndrome in sudden death in DM1, which may be related to missplicing of SCN5A. Our findings provide a new insight into the pathophysiology of heart disease in DM1. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Wahbi, Karim; Lazarus, Arnaud; Duboc, Denis] Univ Paris 05, Hop Cochin, AP HP, Serv Cardiol, F-75014 Paris, France.
   [Wahbi, Karim; Becane, Henri Marc; Berber, Nawal; Stojkovic, Tanya; Behin, Anthony; Laforet, Pascal; Eymard, Bruno; Duboc, Denis] Univ Paris 06, Hop Pitie Salpetriere, AP HP, Inst Myol, F-75013 Paris, France.
   [Algalarrondo, Vincent] Hop Antoine Beclere, AP HP, Serv Cardiol, F-92140 Clamart, France.
   [Algalarrondo, Vincent; Hatem, Stephane] Univ Paris 06, INSERM, UMRS 956, F-75005 Paris, France.
   [Fressart, Veronique] Hop La Pitie Salpetriere, AP HP, Serv Biochim B, Unite Fonct Cardiogenet & Myogenet, F-75013 Paris, France.
   [Beldjord, Cherif; Azibi, Kamel] Hop Cochin, Lab Biochim & Genet Mol, Inst Cochin, Inserm,CNRS,UMR 8104,U567, F-75014 Paris, France.
   [Lazarus, Arnaud] InParys Clin Res Grp, F-92210 St Cloud, France.
   [Radvanyi-Hoffman, Helene] Hop Ambroise Pare, AP HP, Serv Genet Mol, F-92100 Boulogne, France.
C3 Universite Paris Cite; Assistance Publique Hopitaux Paris (APHP);
   Hopital Universitaire Cochin - APHP; Sorbonne Universite; Assistance
   Publique Hopitaux Paris (APHP); Hopital Universitaire Pitie-Salpetriere
   - APHP; Assistance Publique Hopitaux Paris (APHP); Hopital Universitaire
   Antoine-Beclere - APHP; Sorbonne Universite; Institut National de la
   Sante et de la Recherche Medicale (Inserm); Sorbonne Universite;
   Assistance Publique Hopitaux Paris (APHP); Hopital Universitaire
   Pitie-Salpetriere - APHP; Assistance Publique Hopitaux Paris (APHP);
   Universite Paris Cite; Hopital Universitaire Cochin - APHP; Centre
   National de la Recherche Scientifique (CNRS); CNRS - National Institute
   for Biology (INSB); Institut National de la Sante et de la Recherche
   Medicale (Inserm); Assistance Publique Hopitaux Paris (APHP); Hopital
   Universitaire Ambroise-Pare - APHP
RP Wahbi, K (corresponding author), Univ Paris 05, Hop Cochin, AP HP, Serv Cardiol, Rue Faubourg St Jacques, F-75014 Paris, France.
EM karim.wahbi@cch.aphp.fr
RI STOJKOVIC, Tanya/AAA-3967-2021; Hatem, Stephane/D-1016-2017;
   Algalarrondo, Vincent/HJY-6339-2023
OI Behin, Anthony/0000-0001-7179-5152; wahbi, karim/0000-0001-7682-7387;
   hatem, stephane/0000-0002-9790-0755; ALGALARRONDO,
   Vincent/0000-0001-5971-1235
FU Association francaise contre les myopathies (French Alliance against
   Myopathies)
FX This study was funded by grants from the Association francaise contre
   les myopathies (French Alliance against Myopathies).
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NR 35
TC 46
Z9 52
U1 0
U2 2
PU ELSEVIER MASSON, CORP OFF
PI PARIS
PA 65 CAMILLE DESMOULINS CS50083 ISSY-LES-MOULINEAUX, 92442 PARIS, FRANCE
SN 1875-2136
EI 1875-2128
J9 ARCH CARDIOVASC DIS
JI Arch. Cardiovasc. Dis.
PD DEC
PY 2013
VL 106
IS 12
BP 635
EP 643
DI 10.1016/j.acvd.2013.08.003
PG 9
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 287KB
UT WOS:000329539600002
PM 24140416
OA Bronze
DA 2025-04-10
ER

PT J
AU Dircksen, H
   Tesfai, LK
   Albus, C
   Nässel, DR
AF Dircksen, Heinrich
   Tesfai, Lily Kahsai
   Albus, Christina
   Naessel, Dick R.
TI Ion transport peptide splice forms in central and peripheral neurons
   throughout postembryogenesis of Drosophila melanogaster
SO JOURNAL OF COMPARATIVE NEUROLOGY
LA English
DT Article
DE neuropeptide gene; alternative splicing; neurosecretory cells;
   peripheral neurons; antidiuretic hormone; hindgut; insect; fruit fly
ID CRUSTACEAN-HYPERGLYCEMIC-HORMONE; CENTRAL-NERVOUS-SYSTEM;
   AMINO-ACID-SEQUENCE; SHORE CRAB; IMMUNOCYTOCHEMICAL LOCALIZATION;
   IMMUNOREACTIVE NEURONS; CARDIOACTIVE PEPTIDE; FEEDING-BEHAVIOR;
   GENE-EXPRESSION; CORPUS ALLATUM
AB Ion transport peptides (ITPs) belong to a large arthropod neuropeptide family including crustacean hyperglycaemic hormones and are antidiuretic hormones in locusts. Because long and short ITP isoforms are generated by alternative splicing from a single gene in locusts and moths, we investigated whether similarly spliced gene products occur in the nervous system of Drosophila melanogaster throughout postembryogenesis. The itp gene CG13586 was reanalyzed, and we found three instead of the two previously annotated alternatively spliced mRNAs. These give rise to three different neuropeptides, two long C-terminally carboxylated isoforms (DrmITPL1 and DrmITPL2, both 87 amino acids) and one short amidated DrmITP (73 amino acids), which were partially identified biochemically. Immunocytochemistry and in situ hybridization reveal nine larval and 14 adult identified neurons: four pars lateralis neurosecretory neurons, three hindgut-innervating neurons in abdominal ganglia, and a stage-specific number of interneurons and peripheral bipolar neurons. The neurosecretory neurons persist throughout postembryogenesis, form release sites in corpora cardiaca, and invade corpora allata. One type of ITP-expressing interneuron exists only in the larval and prepupal subesophageal ganglia, whereas three types of interneurons in the adult brain arise in late pupae and invade circumscribed neuropils in superior median and lateral brain areas. One peripheral bipolar and putative sensory neuron type occurs in the larval, pupal, and adult preterminal abdominal segments. Although the neurosecretory neurons may release DrmITP and DrmITPL2 into the haemolymph, possible physiological roles of the hindgut-innervating and peripheral neurons as well as the interneurons are yet to be identified.
C1 [Dircksen, Heinrich; Tesfai, Lily Kahsai; Albus, Christina; Naessel, Dick R.] Stockholm Univ, Dept Zool, S-10691 Stockholm, Sweden.
C3 Stockholm University
RP Dircksen, H (corresponding author), Stockholm Univ, Dept Zool, Svante Arrhenius Vag 14, S-10691 Stockholm, Sweden.
EM dircksen@zoologi.su.se
RI Dircksen, Heinrich/C-7704-2013
OI Dircksen, Heinrich/0000-0001-7815-4868
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NR 91
TC 63
Z9 65
U1 0
U2 10
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9967
EI 1096-9861
J9 J COMP NEUROL
JI J. Comp. Neurol.
PD JUL 1
PY 2008
VL 509
IS 1
BP 23
EP 41
DI 10.1002/cne.21715
PG 19
WC Neurosciences; Zoology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology; Zoology
GA 308FU
UT WOS:000256374500002
PM 18418898
DA 2025-04-10
ER

PT J
AU Dasgupta, T
   Coram, RJ
   Stillwagon, SJ
   Ladd, AN
AF Dasgupta, Twishasri
   Coram, Ryan J.
   Stillwagon, Samantha J.
   Ladd, Andrea N.
TI Gene Expression Analyses during Spontaneous Reversal of Cardiomyopathy
   in Mice with Repressed Nuclear CUG-BP, Elav-Like Family (CELF) Activity
   in Heart Muscle
SO PLOS ONE
LA English
DT Article
ID SERUM RESPONSE FACTOR; PHOSPHOLAMBAN GENE; DILATED CARDIOMYOPATHY;
   CARDIAC-FUNCTION; BINDING PROTEIN; MOUSE; CONTRACTILITY; OVEREXPRESSION;
   HYPERTROPHY; MODULATION
AB CUG-BP, Elav-like family (CELF) proteins regulate cell type-and developmental stage-specific alternative splicing in the heart. Repression of CELF-mediated splicing activity via expression of a nuclear dominant negative CELF protein in heart muscle was previously shown to induce dysregulation of alternative splicing, cardiac dysfunction, cardiac hypertrophy, and dilated cardiomyopathy in MHC-CELF Delta transgenic mice. A "mild" line of MHC-CELF Delta mice that expresses a lower level of the dominant negative protein exhibits cardiac dysfunction and myopathy at a young age, but spontaneously recovers normal cardiac function and heart size with age despite the persistence of splicing defects. To the best of our knowledge, this was the first example of a genetically induced cardiomyopathy that spontaneously recovers without intervention. In this study, we explored the basis for this recovery. We examined whether a transcriptional program regulated by serum response factor (SRF) that is dysregulated in juvenile MHC-CELF Delta mice is restored in the mild line with age, and evaluated global changes in gene expression by microarray analyses. We found that differences in gene expression between the mild line and wild type hearts are greatly reduced in older animals, including a partial recovery of SRF target gene expression. We did not find evidence of a new compensatory pathway being activated in the mild line with age, and propose that recovery may occur due to developmental stage-specific compatibility of CELF-dependent splice variants with the cellular environment of the cardiomyocyte.
C1 [Dasgupta, Twishasri; Coram, Ryan J.; Stillwagon, Samantha J.; Ladd, Andrea N.] Cleveland Clin, Lerner Res Inst, Dept Cellular & Mol Med, Cleveland, OH 44106 USA.
C3 Cleveland Clinic Foundation
RP Ladd, AN (corresponding author), Cleveland Clin, Lerner Res Inst, Dept Cellular & Mol Med, Cleveland, OH 44106 USA.
EM ladda@ccf.org
FU National Institutes of Health [1R01HL089376]
FX This work was supported by a grant to ANL from the National Institutes
   of Health (1R01HL089376). The funders had no role in study design, data
   collection and analysis, decision to publish, or preparation of the
   manuscript.
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NR 47
TC 4
Z9 4
U1 0
U2 3
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 20
PY 2015
VL 10
IS 4
AR e0124462
DI 10.1371/journal.pone.0124462
PG 15
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA CG3XA
UT WOS:000353211700097
PM 25894229
OA Green Submitted, Green Published, gold
DA 2025-04-10
ER

PT J
AU van den Hoogenhof, MMG
   van der Made, I
   Beqqali, A
   de Groot, NE
   Damanafshan, A
   van Oort, RJ
   Pinto, YM
   Creemers, EE
AF van den Hoogenhof, Maarten M. G.
   van der Made, Ingeborg
   Beqqali, Abdelaziz
   de Groot, Nina E.
   Damanafshan, Amin
   van Oort, Ralph J.
   Pinto, Yigal M.
   Creemers, Esther E.
TI The RNA-binding protein Rbm38 is dispensable during pressure
   overload-induced cardiac remodeling in mice
SO PLOS ONE
LA English
DT Article
ID REGULATES P63 EXPRESSION; MESSENGER-RNA; P53 FAMILY; DILATED
   CARDIOMYOPATHY; TARGET; RNPC1; STABILITY; HEART; RBM24; DYSFUNCTION
AB The importance of tightly controlled alternative pre-mRNA splicing in the heart is emerging. The RNA binding protein Rbm24 has recently been identified as a pivotal cardiac splice factor, which governs sarcomerogenesis in the heart by controlling the expression of alternative protein isoforms. Rbm38, a homolog of Rbm24, has also been implicated in RNA processes such as RNA splicing, RNA stability and RNA translation, but its function in the heart is currently unknown. Here, we investigated the role of Rbm38 in the healthy and diseased adult mouse heart. In contrast to the heart- and skeletal muscle-enriched protein Rbm24, Rbm38 appears to be more broadly expressed. We generated somatic Rbm38 -/- mice and show that global loss of Rbm38 results in hematopoietic defects. Specifically, Rbm38 -/- mice were anemic and displayed enlarged spleens with extramedullary hematopoiesis, as has been shown earlier. The hearts of Rbm38 -/- mice were mildly hypertrophic, but cardiac function was not affected. Furthermore, Rbm38 deficiency did not affect cardiac remodeling (i.e. hypertrophy, LV dilation and fibrosis) or performance (i.e. fractional shortening) after pressure-overload induced by transverse aorta constriction. To further investigate molecular consequences of Rbm38 deficiency, we examined previously identified RNA stability, splicing, and translational targets of Rbm38. We found that stability targets p21 and HuR, splicing targets Mef2d and Fgfr2, and translation target p53 were not altered, suggesting that these Rbm38 targets are tissue-specific or that Rbm38 deficiency may be counteracted by a redundancy mechanism. In this regard, we found a trend towards increased Rbm24 protein expression in Rbm38 -/- hearts. Overall, we conclude that Rbm38 is critical in hematopoiesis, but does not play a critical role in the healthy and diseased heart.
C1 [van den Hoogenhof, Maarten M. G.; van der Made, Ingeborg; Beqqali, Abdelaziz; de Groot, Nina E.; Damanafshan, Amin; van Oort, Ralph J.; Pinto, Yigal M.; Creemers, Esther E.] Acad Med Ctr, Dept Expt Cardiol, Amsterdam, Netherlands.
C3 University of Amsterdam; Academic Medical Center Amsterdam
RP Creemers, EE (corresponding author), Acad Med Ctr, Dept Expt Cardiol, Amsterdam, Netherlands.
EM e.e.creemers@amc.uva.nl
RI van Oort, Ralph/C-5713-2011; Beqqali, Abdelaziz/F-8568-2013
OI , yigal/0000-0002-2836-571X; van den Hoogenhof,
   Maarten/0000-0003-2768-3457; Beqqali, Abdelaziz/0000-0003-1390-5821;
   Creemers, Esther/0000-0002-9001-3854
FU AMC; Netherlands Organization for Scientific Research [NWO-836.12.002,
   NWO-821.02.021]; Netherlands Cardiovascular Research Initiative
   [CVON-ARENA-2011-11]
FX This work was supported an AMC PhD Fellowship (MMGvdH) and by grants
   from the Netherlands Organization for Scientific Research
   (NWO-836.12.002 and NWO-821.02.021) (EEC, YMP) and the Netherlands
   Cardiovascular Research Initiative (CVON-ARENA-2011-11) (YMP). The
   funders had no role in study design,data collection and analysis,
   decision to publish, or preparation of the manuscript.
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PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 29
PY 2017
VL 12
IS 8
AR e0184093
DI 10.1371/journal.pone.0184093
PG 15
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA FE9SU
UT WOS:000408544200054
PM 28850611
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Medina, MW
AF Medina, Marisa W.
TI The Relationship Between HMGCR Genetic Variation, Alternative Splicing,
   and Statin Efficacy
SO DISCOVERY MEDICINE
LA English
DT Article
ID LIPOPROTEIN CHOLESTEROL RESPONSE; LOW-DENSITY-LIPOPROTEIN; COENZYME-A
   REDUCTASE; PRAVASTATIN; THERAPY; GENOME; RISK; POLYMORPHISM; EVENTS
AB Statins are a class of cholesterol lowering drugs that inhibit 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR), the enzyme which catalyzes the rate limiting step of cholesterol biosynthesis. Although numerous trials have demonstrated statin efficacy in the reduction of cardiovascular disease risk, there is substantial variation between individuals in the magnitude of plasma LDL-cholesterol reduction. Pharmacogenetic studies have identified HMGCR genetic variation associated with this inter-individual variation. Here we describe how these studies lead to the discovery that HMGCR alternative splicing of exon 13 is not only a marker, but also a determinant of statin efficacy; not only for the treatment of hypercholesterolemia, but also as a chemopreventive agent for colorectal cancer. [Discovery Medicine 9(49):495-499, June 2010]
C1 Childrens Hosp, Oakland Res Inst, Oakland, CA 94609 USA.
C3 Children's Hospital Los Angeles; Children's Hospital Oakland Research
   Institute
RP Medina, MW (corresponding author), Childrens Hosp, Oakland Res Inst, 5700 Martin Luther King Jr Way, Oakland, CA 94609 USA.
EM mwmedina@chori.org
FU NHLBI NIH HHS [U19 HL069757] Funding Source: Medline
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NR 22
TC 17
Z9 23
U1 0
U2 1
PU DISCOVERY MEDICINE
PI TIMONIUM
PA 10 GERARD AVE, STE 201, TIMONIUM, MD 21093 USA
SN 1539-6509
EI 1944-7930
J9 DISCOV MED
JI Discov. Med.
PD JUN
PY 2010
VL 9
IS 49
BP 495
EP 499
PG 5
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA V27UN
UT WOS:000208638200001
PM 20587337
DA 2025-04-10
ER

PT J
AU Codina-Fauteux, VA
   Beaudoin, M
   Lalonde, S
   Lo, KS
   Lettre, G
AF Codina-Fauteux, Valerie-Anne
   Beaudoin, Melissa
   Lalonde, Simon
   Lo, Ken Sin
   Lettre, Guillaume
TI PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant
   human cells
SO BMC MEDICAL GENETICS
LA English
DT Article
DE PHACTR1; Alternative splicing; Expression quantitative trait locus
   (eQTL); Myocardial infarction (MI); Coronary artery disease (CAD)
ID GENOME-WIDE ASSOCIATION; HUMAN ENDOTHELIAL-CELLS; MYOCARDIAL INFARCTION;
   GENE PHACTR1; BINDING
AB Background: Genome-wide association studies (GWAS) have identified a variant (rs9349379) at the phosphatase and actin regulator 1 (PHACTR1) locus that is associated with coronary artery disease (CAD). The same variant is also an expression quantitative trait locus (eQTL) for PHACTR1 in human coronary arteries (hCA). Here, we sought to characterize PHACTR1 splicing pattern in atherosclerosis-relevant human cells. We also explored how rs9349379 modulates the expression of the different PHACTR1 splicing isoforms.
   Methods: We combined rapid amplification of cDNA ends (RACE) with next-generation long-read DNA sequencing to discover all PHACTR1 transcripts in many human tissues and cell types. We measured PHACTR1 transcripts by qPCR to identify transcript-specific eQTLs.
   Results: We confirmed a brain-specific long transcript, a short transcript expressed in monocytes and four intermediate transcripts that are different due to alternative splicing of two in-frame exons. In contrast to a previous report, we confirmed that the PHACTR1 protein is present in vascular smooth muscle cells. In 158 hCA from our collection and the GTEx dataset, rs9349379 was only associated with the expression levels of the intermediate PHACTR1 transcripts.
   Conclusions: Our comprehensive transcriptomic profiling of PHACTR1 indicates that this gene encodes six main transcripts. Five of them are expressed in hCA, where atherosclerotic plaques develop. In this tissue, genotypes at rs9349379 are associated with the expression of the intermediate transcripts, but not the immune-specific short transcript. This result suggests that rs9349379 may in part influence CAD by modulating the expression of intermediate PHACTR1 transcripts in endothelial or vascular smooth muscle cells found in hCA.
C1 [Codina-Fauteux, Valerie-Anne; Beaudoin, Melissa; Lalonde, Simon; Lo, Ken Sin; Lettre, Guillaume] Montreal Heart Inst, 5000 Belanger St, Montreal, PQ H1T 1C8, Canada.
   [Codina-Fauteux, Valerie-Anne; Lettre, Guillaume] Univ Montreal, 2900 Boul Edouard Montpetit, Montreal, PQ H3T 1J4, Canada.
C3 Universite de Montreal; Universite de Montreal
RP Lettre, G (corresponding author), Montreal Heart Inst, 5000 Belanger St, Montreal, PQ H1T 1C8, Canada.; Lettre, G (corresponding author), Univ Montreal, 2900 Boul Edouard Montpetit, Montreal, PQ H3T 1J4, Canada.
EM guillaume.lettre@umontreal.ca
FU Canadian Institutes of Health Research [136979]; Montreal Heart
   Institute Foundation; Canada Research Chair Program
FX This work was supported by grants from the Canadian Institutes of Health
   Research (operating grant #136979), the Montreal Heart Institute
   Foundation, and the Canada Research Chair Program. The funders had no
   role in study design, data collection and analysis, decision to publish,
   or preparation of the manuscript.
CR Aherrahrou R, 2017, BIOCHEM BIOPH RES CO, V491, P396, DOI 10.1016/j.bbrc.2017.07.090
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NR 19
TC 20
Z9 21
U1 1
U2 5
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2350
J9 BMC MED GENET
JI BMC Med. Genet.
PD JUN 8
PY 2018
VL 19
AR 97
DI 10.1186/s12881-018-0616-7
PG 9
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA GJ1LB
UT WOS:000435016100001
PM 29884117
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Huang, RZ
   Zheng, ZX
   Liu, SJ
   Yan, PH
   Song, DW
   Yin, HB
   Hu, P
   Zhu, XL
   Chang, ZY
   Liu, YH
   Zhuang, JW
   Meng, T
   Huang, ZQ
   Zhang, J
AF Huang, Runzhi
   Zheng, Zixuan
   Liu, Sijia
   Yan, Penghui
   Song, Dianwen
   Yin, Huabin
   Hu, Peng
   Zhu, Xiaolong
   Chang, Zhengyan
   Liu, Yihan
   Zhuang, Juanwei
   Meng, Tong
   Huang, Zongqiang
   Zhang, Jie
TI Identification of prognostic and bone metastasis -related alternative
   splicing signatures in mesothelioma
SO CANCER MEDICINE
LA English
DT Article
DE alternative splicing; mesothelioma; metastasis; prognosis
ID PRE-MESSENGER-RNA; EPITHELIAL-MESENCHYMAL TRANSITION; MALIGNANT PLEURAL
   MESOTHELIOMA; SORTING NEXIN 5; GENE-EXPRESSION; PROTEOMIC ANALYSIS;
   PROTEIN FUNCTIONS; CANCER; SPLICEOSOME; ENHANCER
AB Mesothelioma (MESO) is an infrequent tumor derived from mesothelial cells of pleura, peritoneum, pericardium, and tunica vaginalis testis. Despite advancement in technologies and better understanding of tumor progression mechanism, the prognosis of MESO remains poor. The role of alternative splicing events (ASEs) in the oncogenesis, tumor metastasis and drug resistance has been widely discussed in multiple cancers. But the prognosis and potential therapeutic value of ASEs in MESO were not clearly studied by now. We constructed a prognostic model using RNA sequencing data and matched ASE data of MESO patients obtained from the TCGA and TCGASpliceSeq database. A total of 3,993 ASEs were identified associated with overall survival using Cox regression analysis. Eight of them were finally figured out to institute the model by lasso regression analysis. The risk score of the model can predict the prognosis independently. Among the identified 390 splicing factors (SF), HSPA1A and DDX3Y was significantly associated with 43 OS-SEs. Among these OS-SEs, SNX5-58744-AT (p = 0.048) and SNX5-58745-AT (p = 0.048) were significantly associated with bone metastasis. Co-expression analysis of signal pathways and SNX5-58744-AT, SNX5-58745-AT was also depicted using GSVA. Finally, we proposed that splicing factor (SF) HSPA1A could regulate SNX5-58744-AT (R = -0.414) and SNX5-58745-AT (R = 0.414) through the pathway "Class I MHC mediated antigen processing and presentation" (R = 0.400). In this way, tumorigenesis and bone metastasis of MESO were controlled.
C1 [Huang, Runzhi; Zhang, Jie] Tongji Univ, Shanghai First Matern & Infant Hosp, Sch Med, Dept Gynecol, Shanghai 201204, Peoples R China.
   [Huang, Runzhi; Meng, Tong; Zhang, Jie] Tongji Univ, Sch Med, Tongji Hosp, Div Spine,Dept Orthoped, Shanghai 200065, Peoples R China.
   [Huang, Runzhi; Zheng, Zixuan; Liu, Sijia; Liu, Yihan; Zhang, Jie] Tongji Univ, Sch Med, Shanghai, Peoples R China.
   [Yan, Penghui; Hu, Peng; Zhu, Xiaolong; Zhuang, Juanwei; Huang, Zongqiang] Zhengzhou Univ, Affiliated Hosp 1, Dept Orthoped, Zhengzhou 450052, Peoples R China.
   [Song, Dianwen; Yin, Huabin] Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Orthoped, Shanghai, Peoples R China.
   [Chang, Zhengyan] Tongji Univ, Sch Med, Shanghai Peoples Hosp 10, Dept Pathol, Shanghai, Peoples R China.
C3 Tongji University; Tongji University; Tongji University; Zhengzhou
   University; Shanghai Jiao Tong University; Tongji University
RP Zhang, J (corresponding author), Tongji Univ, Shanghai First Matern & Infant Hosp, Sch Med, Dept Gynecol, Shanghai 201204, Peoples R China.; Meng, T (corresponding author), Tongji Univ, Sch Med, Tongji Hosp, Div Spine,Dept Orthoped, Shanghai 200065, Peoples R China.; Huang, ZQ (corresponding author), Zhengzhou Univ, Affiliated Hosp 1, Dept Orthoped, Zhengzhou 450052, Peoples R China.
EM mengtong@medmail.com.cn; gzhuangzq@163.com; jiezhang@tongji.edu.cn
RI 紫萱, 郑/GSE-2288-2022; Huang, Runzhi/KLY-6298-2024; Zhu,
   Xiaolong/JFJ-1479-2023; Liu, Yue/HHM-8584-2022; Hu, Peng/X-1546-2019;
   Liu, Sijia/HZL-9543-2023
OI Zheng, Zixuan/0000-0003-4368-4337
FU National Natural Science Foundation of China [81702659, 81772856,
   81501203]; Youth Fund of Shanghai Municipal Health Planning Commission
   [2017YQ054]; Henan medical science and technology research project
   [201602031]; Shanghai Municipal Health Commission [201940306]
FX National Natural Science Foundation of China, Grant/Award Number:
   81702659, 81772856 and 81501203; Youth Fund of Shanghai Municipal Health
   Planning Commission, Grant/Award Number: 2017YQ054; Henan medical
   science and technology research project, Grant/Award Number: 201602031;
   Shanghai Municipal Health Commission, Grant/Award Number: 201940306
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NR 99
TC 2
Z9 2
U1 0
U2 14
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 2045-7634
J9 CANCER MED-US
JI Cancer Med.
PD JUL
PY 2021
VL 10
IS 13
BP 4478
EP 4492
DI 10.1002/cam4.3977
EA MAY 2021
PG 15
WC Oncology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology
GA TF5WA
UT WOS:000654751100001
PM 34041868
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Ladd, AN
   Cooper, TA
AF Ladd, AN
   Cooper, TA
TI Multiple domains control the subcellular localization and activity of
   ETR-3, a regulator of nuclear and cytoplasmic RNA processing events
SO JOURNAL OF CELL SCIENCE
LA English
DT Article
DE ETR-3; CELF; subcellular localization; alternative splicing; protein
   domains
ID MYOTONIC-DYSTROPHY; BINDING-PROTEIN; MESSENGER-RNA; APOLIPOPROTEIN-B;
   GENE-EXPRESSION; MOLECULAR-BASIS; TRIPLET REPEAT; CANDIDATE GENE; CTG
   REPEAT; EDEN-BP
AB Embryonic lethal abnormal vision (ELAV) type RNA binding protein 3 (ETR-3; also called NAPOR, CUGBP2, or BRUNOL3) has been implicated in the regulation of nuclear and cytoplasmic RNA processing events, including alternative splicing, RNA editing, stability and translation. Here, we report that the ETR-3 protein contains multiple regions that control its subcellular localization and are important for its activity as a splicing regulator. We cloned ETR-3 from chicken heart and fused it to the C terminus of green fluorescent protein (GFPcETR3vL). GFPcETR3vL is found predominantly in the nucleus and is an active regulator of alternative splicing in cotransfection assays with a cardiac troponin T minigene. ETR-3 contains two N-terminal RNA recognition motifs (RRMs), a 210-amino acid divergent domain, and a C-terminal RRM. We demonstrate that the C terminus contains a strong nuclear localization signal overlapping the third RRM, which can confer nuclear localization on a normally cytoplasmic pyruvate kinase chimera. Additional deletions revealed nuclear localization and export activities in the divergent domain of ETR-3, as well as regions within the first two RRMs that are important for cytoplasmic localization. The nuclear export activity of the divergent domain is sensitive to leptomycin B, indicating that export to the cytoplasm is mediated via a CRM1-dependent pathway. The C terminus and a region within the divergent domain were also shown to be important for splicing activity of ETR-3. This is the first characterization of protein domains involved in mediating the subcellular localization and splicing activity of a member of the CELF family of RNA processing regulators.
C1 Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
C3 Baylor College of Medicine
RP Baylor Coll Med, Dept Pathol, 1 Baylor Pl, Houston, TX 77030 USA.
EM tcooper@bcm.tmc.edu
OI Ladd, Andrea/0000-0003-4725-5644
FU NHLBI NIH HHS [HL45565] Funding Source: Medline
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NR 40
TC 49
Z9 58
U1 0
U2 4
PU COMPANY BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING, STATION RD, HISTON, CAMBRIDGE CB24 9LF, ENGLAND
SN 0021-9533
EI 1477-9137
J9 J CELL SCI
JI J. Cell Sci.
PD JUL 15
PY 2004
VL 117
IS 16
BP 3519
EP 3529
DI 10.1242/jcs.01194
PG 11
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 849FG
UT WOS:000223523500012
PM 15226369
DA 2025-04-10
ER

PT J
AU Zhu, BM
   Gulick, T
AF Zhu, BM
   Gulick, T
TI Phosphorylation and alternative Pre-mRNA splicing converge to regulate
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SO MOLECULAR AND CELLULAR BIOLOGY
LA English
DT Article
ID TRANSCRIPTION FACTOR MEF2C; MYOSIN HEAVY-CHAIN; SKELETAL-MUSCLE;
   GENE-EXPRESSION; DNA-BINDING; MADS-BOX; MYOGENIC BHLH; ACTIVATION;
   FAMILY; PROTEINS
AB Myocyte enhancer factor 2 (MEF2) transcription factors play pivotal roles in cardiac, muscle, and neuron gene expression. All products of MEF2 genes have a common amino-terminal DNA binding and dimerization domain, but the four vertebrate MEF2 gene transcripts are alternatively spliced among coding exons to produce splicing isoforms. In MEF2C alone, alternative splice acceptors in the last exon give forms that include or exclude a short domain that we designate gamma. We show that MEF2C is expressed exclusively as gamma- isoforms in heart tissue and predominantly as gamma- in other adult tissues and in differentiating myocytes. MEF2C gamma-isoforms are much more robust than gamma+ forms in activating MEF2-responsive reporters in transfected fibroblasts despite indistinguishable expression levels, and they better synergize with MyoD in promoting myogenic conversion. One-hybrid transcription assays using Gal4-MEF2C fusions give similar distinctions between gamma- and gamma+ isoforms in all cell types tested, including myocytes. Cis effects of gamma on MEF2C DNA binding, dimerization, protein stability, or response to CaM or p38 mitogen-activated protein kinase signaling are not apparent, and the isolated gamma domain represses transcription when fused to Gal4. One phosphoserine residue is present within the gamma domain according to tandem mass spectrometry, and mutation of this residue abolishes gamma-mediated transrepression. A similar activity is present in the constitutive gamma domain and serine phosphoacceptor of MEF2A. Our findings indicate that gamma functions autonomously as a phosphoserine-dependent transrepressor to downregulate transactivation function of MEF2 factors and that alternative splicing and serine phosphorylation converge to provide complex combinatorial control of MEF2C activity.
C1 Massachusetts Gen Hosp, Diabet Res Lab, Dept Med, Charlestown, MA 02129 USA.
   Harvard Univ, Sch Med, Dept Med, Boston, MA USA.
C3 Harvard University; Harvard University Medical Affiliates; Massachusetts
   General Hospital; Harvard University; Harvard Medical School
RP Massachusetts Gen Hosp, Diabet Res Lab, Dept Med, MGH E,CNY 149 8219, Charlestown, MA 02129 USA.
EM gulick@helix.mgh.harvard.edu
FU NHLBI NIH HHS [HL72713, R01 HL072713] Funding Source: Medline; NIDDK NIH
   HHS [R01 DK055875, DK55875, DK02461] Funding Source: Medline
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NR 53
TC 67
Z9 81
U1 0
U2 5
PU AMER SOC MICROBIOLOGY
PI WASHINGTON
PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA
SN 0270-7306
EI 1098-5549
J9 MOL CELL BIOL
JI Mol. Cell. Biol.
PD SEP
PY 2004
VL 24
IS 18
BP 8264
EP 8275
DI 10.1128/MCB.24.18.8264-8275.2004
PG 12
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 852MY
UT WOS:000223760600041
PM 15340086
OA Bronze, Green Published
DA 2025-04-10
ER

PT J
AU Qiao, YJ
   Shi, QL
   Yuan, X
   Ding, J
   Li, XR
   Shen, MT
   Huang, SL
   Chen, Z
   Wang, L
   Zhao, YJ
   He, XH
AF Qiao, Yejun
   Shi, Qili
   Yuan, Xu
   Ding, Jie
   Li, Xinrong
   Shen, Mengting
   Huang, Shenglin
   Chen, Zhiao
   Wang, Lu
   Zhao, Yingjun
   He, Xianghuo
TI RNA binding protein RALY activates the cholesterol synthesis pathway
   through an MTA1 splicing switch in hepatocellular carcinoma
SO CANCER LETTERS
LA English
DT Article
DE RBP; RALY; RNA splicing; MTA1 isoform switch; HCC
ID CANCER; MECHANISMS; INSIGHTS; METASTASIS; METABOLISM; EXPRESSION;
   HALLMARKS; ISOFORM
AB Alternative splicing is an important RNA processing event that contributes to RNA complexity and protein diversity in cancer. Accumulating evidence demonstrates the essential roles of some alternatively spliced genes in carcinogenesis. However, the potential roles of alternatively spliced genes in hepatocellular carcinoma (HCC) are still largely unknown. Here we showed that the HnRNP Associated with Lethal Yellow Protein Homolog (RALY) gene is upregulated and associated with poor outcomes in HCC patients. RALY acts as a tumor-promoting factor by cooperating with splicing factor 3b subunit 3 (SF3B3) and modulating the splicing switch of Metastasis Associated 1 (MTA1) from MTA-S to MTA1-L. Normally, MTA1-S inhibits cell proliferation by reducing the transcription of cholesterol synthesis genes. In HCC, RALY and SF3B3 cooperate to regulate the MTA1 splicing switch, leading to a reduction in the MTA1-S level, and alleviating the inhibitory effect of MTA1-S on cholesterol synthesis genes, thus promoting HCC cell proliferation. In conclusion, our results revealed that the RALY-SF3B3/ MTA1/cholesterol synthesis pathway contributes essentially to hepatic carcinogenesis and could serve as a promising therapeutic target for HCC.
C1 [Qiao, Yejun; Shi, Qili; Yuan, Xu; Ding, Jie; Li, Xinrong; Shen, Mengting; Huang, Shenglin; Chen, Zhiao; Zhao, Yingjun; He, Xianghuo] Fudan Univ, Shanghai Canc Ctr, Shanghai Med Coll, 302 Rm,7 Bldg,270 Dong An Rd, Shanghai 200032, Peoples R China.
   [Qiao, Yejun; Shi, Qili; Yuan, Xu; Ding, Jie; Li, Xinrong; Shen, Mengting; Huang, Shenglin; Chen, Zhiao; Zhao, Yingjun; He, Xianghuo] Fudan Univ, Shanghai Med Coll, Inst Biomed Sci, Shanghai 200032, Peoples R China.
   [Huang, Shenglin; Chen, Zhiao; Zhao, Yingjun; He, Xianghuo] Fudan Univ, Shanghai Canc Ctr, Key Lab Breast Canc Shanghai, Shanghai 200032, Peoples R China.
   [Huang, Shenglin; Chen, Zhiao; Zhao, Yingjun; He, Xianghuo] Fudan Univ, Shanghai Canc Ctr, Shanghai Key Lab Radiat Oncol, Shanghai 200032, Peoples R China.
   [Wang, Lu] Fudan Univ, Shanghai Canc Ctr, Dept Hepat Surg, 4F,5 Bldg,270 Dong An Rd, Shanghai 200032, Peoples R China.
   [Wang, Lu] Nanjing Med Univ, Collaborat Innovat Ctr Canc Personalized Med, Nanjing 211166, Peoples R China.
C3 Fudan University; Fudan University; Fudan University; Fudan University;
   Fudan University; Nanjing Medical University
RP Zhao, YJ; He, XH (corresponding author), Fudan Univ, Shanghai Canc Ctr, Shanghai Med Coll, 302 Rm,7 Bldg,270 Dong An Rd, Shanghai 200032, Peoples R China.; Zhao, YJ; He, XH (corresponding author), Fudan Univ, Shanghai Med Coll, Inst Biomed Sci, Shanghai 200032, Peoples R China.; Wang, L (corresponding author), Fudan Univ, Shanghai Canc Ctr, Dept Hepat Surg, 4F,5 Bldg,270 Dong An Rd, Shanghai 200032, Peoples R China.
EM wangluzl@fudan.edu.cn; zhaoyingjun@fudan.edu.cn; xhhe@fudan.edu.cn
RI Shi, Qili/HSF-2247-2023; Huang, Shenglin/N-9472-2018; ding,
   jie/HNR-5490-2023; Chen, Zhiao/AAO-1087-2021; He, Xianghuo/I-1497-2014
OI He, Xianghuo/0000-0001-8872-668X; Chen, Zhiao/0000-0003-4105-8674
FU National Natural Science Foundation of China [81930123, 81790252,
   81872233, 82121004]; Natural Science Foundation of Shanghai
   [21ZR1409400]
FX Acknowledgements Funding: This work was supported the National Natural
   Science Foundation of China [grant numbers 81930123, 81790252, 81872233
   and 82121004] ; and the Natural Science Foundation of Shanghai [grant
   number 21ZR1409400] .
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U1 5
U2 32
PU ELSEVIER IRELAND LTD
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   IRELAND
SN 0304-3835
EI 1872-7980
J9 CANCER LETT
JI Cancer Lett.
PD JUL 10
PY 2022
VL 538
AR 215711
DI 10.1016/j.canlet.2022.215711
EA MAY 2022
PG 12
WC Oncology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology
GA 1K3DX
UT WOS:000798486900003
PM 35490918
DA 2025-04-10
ER

PT J
AU Sakai, N
   SantamarinaFojo, S
   Yamashita, S
   Matsuzawa, Y
   Brewer, HB
AF Sakai, N
   SantamarinaFojo, S
   Yamashita, S
   Matsuzawa, Y
   Brewer, HB
TI Exon 10 skipping caused by intron 10 splice donor site mutation in
   cholesteryl ester transfer protein gene results in abnormal downstream
   splice site selection
SO JOURNAL OF LIPID RESEARCH
LA English
DT Article
DE cholesteryl ester transfer protein (CETP); deficiency;
   hyperalphalipoproteinemia; mutation; splicing; skipping;
   atherosclerosis; high density lipoprotein (HDL)
ID HIGH-DENSITY-LIPOPROTEINS; MESSENGER-RNA; FAMILIAL
   HYPERALPHALIPOPROTEINEMIA; NONSENSE MUTATIONS; MISSENSE MUTATION;
   DEFICIENCY; DEFECT; PARTICLES; FREQUENCY; SEQUENCES
AB Cholesteryl ester transfer protein (CETP) deficiency is the most common. cause of hyperalphalipoproteinemia in Japan. However, the genetic basis of this disorder has not been fully characterized. We have studied a 49-year-old Japanese male presenting with total cholesterol, HDL cholesterol, and apolipoprotein A-I levels of 300, 236, and 233 mg/dl, respectively, and total absence of CETP activity and mass in plasma. Sequence analysis of the patient's CETP gene revealed that the splice donor consensus GT was substituted by GG in intron 10 (intron 10 splice defect) and by AT in intron 14 (intron 14 splice defect). Restriction digestion of PCR-amplified DNA using NdeI and MaeIII established that the patient was a compound heterozygote for both gene defects. Sequencing of cDNA amplified by RT-PCR from the patient's monocyte-derived macrophage RNA demonstrated abnormal splicing with deletion of exon 10 as well as alternative splicing at a native AG site located 31 nucleotides 5' of the normal splice acceptor in intron 13. Thus, the intron 10 splice defect results in exon 10 skipping and the insertion of a 31 bp fragment between exon 13 and exon 14, which contains an in frame stop codon. The presence of abnormally spliced mRNA. was further confirmed by amplification of patient cDNA using CETP specific primers. Abnormal splicing of exon 14 as a result of the intron 14 splice defect was not detected, indicating potential unstable CETP mRNA derived from that mutation. These findings demonstrate that a novel splice site mutation in intron 10 of the CETP gene results in the skipping of exon 10, as well as disruption of downstream splicing at intron 13 identifying a novel mechanism leading to CETP deficiency.
C1 OSAKA UNIV,SCH MED,DEPT INTERNAL MED 2,SUITA,OSAKA 565,JAPAN.
C3 The University of Osaka
RP Sakai, N (corresponding author), NHLBI,MOL DIS BRANCH,NIH,10 CTR DR,MSC 1666,BETHESDA,MD 20892, USA.
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NR 46
TC 44
Z9 45
U1 0
U2 0
PU LIPID RESEARCH INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998
SN 0022-2275
J9 J LIPID RES
JI J. Lipid Res.
PD OCT
PY 1996
VL 37
IS 10
BP 2065
EP 2073
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA VQ508
UT WOS:A1996VQ50800002
PM 8906584
DA 2025-04-10
ER

PT J
AU Vidal-Petiot, E
   Cheval, L
   Faugeroux, J
   Malard, T
   Doucet, A
   Jeunemaitre, X
   Hadchouel, J
AF Vidal-Petiot, Emmanuelle
   Cheval, Lydie
   Faugeroux, Julie
   Malard, Thierry
   Doucet, Alain
   Jeunemaitre, Xavier
   Hadchouel, Juliette
TI A New Methodology for Quantification of Alternatively Spliced Exons
   Reveals a Highly Tissue-Specific Expression Pattern of WNK1 Isoforms
SO PLOS ONE
LA English
DT Article
ID PROTEIN-KINASE; GENE-EXPRESSION; BLOOD-PRESSURE; HUMAN BREAST;
   MUTATIONS; KIDNEY; HYPERTENSION; SCREEN; PCR
AB Mutations in the WNK1 gene, encoding a serine-threonine kinase of the WNK (With No lysine (K)) family, have been implicated in two rare human diseases, Familial Hyperkalemic Hypertension (FHHt) and Hereditary Sensory and Autonomic Neuropathy type 2 (HSAN2). Alternative promoters give rise to a ubiquitous isoform, L-WNK1, and a kidney-specific isoform, KS-WNK1. Several other isoforms are generated through alternative splicing of exons 9, 11 and 12 but their precise tissue distribution is not known. Two additional exons, 8b and HSN2, involved in HSAN2, are thought to be specifically expressed in the nervous system. The purpose of this study was to establish an exhaustive description of all WNK1 isoforms and to quantify their relative level of expression in a panel of human and mouse tissues and in mouse nephron segments. For the latter purpose, we developed a new methodology allowing the determination of the proportions of the different isoforms generated by alternative splicing. Our results evidenced a striking tissue-specific distribution of the different isoforms and the unexpected presence of exon HSN2 in many tissues other than the nervous system. We also found exon 26 to be alternatively spliced in human and identified two new exons, 26a and 26b, within intron 26, specifically expressed in nervous tissues both in humans and mice. WNK1 should therefore no longer be designated as a 28-but as a 32-exon gene, with 8 of them - 8b, HSN2, 9, 11, 12, 26, 26a and 26b - alternatively spliced in a tissue-specific manner. These tissue-specific isoforms must be considered when studying the different roles of this ubiquitous kinase.
C1 [Vidal-Petiot, Emmanuelle; Faugeroux, Julie; Jeunemaitre, Xavier; Hadchouel, Juliette] INSERM UMR970 Paris Cardiovasc Res Ctr Paris, Paris, France.
   [Vidal-Petiot, Emmanuelle; Cheval, Lydie; Faugeroux, Julie; Doucet, Alain; Jeunemaitre, Xavier; Hadchouel, Juliette] Univ Paris 05, Fac Med, Paris, France.
   [Cheval, Lydie; Doucet, Alain] Univ Paris 06, F-75252 Paris 05, France.
   [Cheval, Lydie; Doucet, Alain] INSERM UMRS 872, Paris, France.
   [Cheval, Lydie; Doucet, Alain] CNRS ERL726 Cordeliers Res Ctr Paris, Paris, France.
   [Malard, Thierry] CNRS, LCTS, UMR5801, Pessac, France.
   [Jeunemaitre, Xavier] Hop Europeen Georges Pompidou, AP HP, Dept Genet, Paris, France.
C3 Institut National de la Sante et de la Recherche Medicale (Inserm);
   Universite Paris Cite; Sorbonne Universite; Universite Paris Cite;
   Institut National de la Sante et de la Recherche Medicale (Inserm);
   Centre National de la Recherche Scientifique (CNRS); Sorbonne
   Universite; Universite de Bordeaux; Centre National de la Recherche
   Scientifique (CNRS); CNRS - Institute of Chemistry (INC); CEA;
   Assistance Publique Hopitaux Paris (APHP); Universite Paris Cite;
   Hopital Universitaire Europeen Georges-Pompidou - APHP
RP Vidal-Petiot, E (corresponding author), INSERM UMR970 Paris Cardiovasc Res Ctr Paris, Paris, France.
EM juliette.hadchouel@inserm.fr
RI JEUNEMAITRE, Xavier/AAQ-4853-2021; Hadchouel, Juliette/K-4593-2016
OI CHEVAL, LYDIE/0000-0003-2957-6487; Vidal-Petiot,
   Emmanuelle/0000-0001-9356-7302; Hadchouel, Juliette/0000-0001-8260-6265
FU INSERM the European Community [HEALTH-F2-2007-201590]; Fondation Leducq
   Transatlantic Network on Hypertension; Agence Nationale pour la
   Recherche [ANR-05-MRAR-010-01]
FX This work was supported by INSERM the European Community's 7th Framework
   Program (HEALTH-F2-2007-201590, EUNEFRON program), the Fondation Leducq
   Transatlantic Network on Hypertension, and the Agence Nationale pour la
   Recherche (ANR-05-MRAR-010-01). E.V-P. was a recipient of a "Poste
   d'accueil Inserm". The funders had no role in study design, data
   collection and analysis, decision to publish, or preparation of the
   manuscript.
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NR 29
TC 64
Z9 66
U1 0
U2 3
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAY 31
PY 2012
VL 7
IS 5
AR e37751
DI 10.1371/journal.pone.0037751
PG 9
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA 959TY
UT WOS:000305338500053
PM 22701532
OA Green Published, Green Submitted, gold
DA 2025-04-10
ER

PT J
AU Filippello, A
   Lorenzi, P
   Bergamo, E
   Romanelli, MG
AF Filippello, Agnese
   Lorenzi, Pamela
   Bergamo, Elisa
   Romanelli, Maria Grazia
TI Identification of nuclear retention domains in the RBM20 protein
SO FEBS LETTERS
LA English
DT Article
DE RBM20; DCM; Alternative splicing; Nuclear localization;
   Ribonucleoprotein; SR
ID TRACT-BINDING-PROTEIN; RS DOMAIN; SUBNUCLEAR LOCALIZATION; SR PROTEIN;
   GENE; FAMILY; RIBONUCLEOPROTEIN; CARDIOMYOPATHY; MUTATIONS
AB RBM20 is a nuclear protein which regulates alternative splicing of expressed genes that have a key role in cardiac function. By cloning the human and mouse RBM20 cDNA, producing expressing vectors for truncated proteins, and comparing their sub-cellular distribution in transfected cells, we have identified the sequences necessary for RBM20 full nuclear retention. The region overlaps an RNA binding motif and a serine-arginine domain. The sequence is conserved in many species but belongs only to RBM20 orthologs. The RMB20 tissue specificity, together with the properties of its nuclear localization determinant, demonstrates a specific evolutionary selection of post-transcriptional regulation factors. (C) 2013 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.
C1 [Filippello, Agnese; Lorenzi, Pamela; Bergamo, Elisa; Romanelli, Maria Grazia] Univ Verona, Dept Life & Reprod Sci, Sect Biol & Genet, I-37134 Verona, Italy.
C3 University of Verona
RP Romanelli, MG (corresponding author), Univ Verona, Dept Life & Reprod Sci, Sect Biol & Genet, Str Grazie 8, I-37134 Verona, Italy.
EM agnese.filippello@gmail.com; pamela.lorenzi@univr.it;
   elisa.bergamo@univr.it; mariagrazia.romanelli@univr.it
RI Romanelli, Maria/AAS-7946-2020; Filippello, Agnese/AAB-5147-2022
OI Lorenzi, Pamela/0000-0002-4170-3322; FILIPPELLO, Agnese
   Rita/0000-0001-6593-8823; /0000-0002-7360-1195
FU AIRC; MIUR, Italy
FX This work was supported by Grants from AIRC-2008 Cariverona Regional
   Grants and MIUR, Italy.
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NR 31
TC 25
Z9 26
U1 0
U2 8
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0014-5793
EI 1873-3468
J9 FEBS LETT
JI FEBS Lett.
PD SEP 17
PY 2013
VL 587
IS 18
BP 2989
EP 2995
DI 10.1016/j.febslet.2013.07.018
PG 7
WC Biochemistry & Molecular Biology; Biophysics; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics; Cell Biology
GA 213DG
UT WOS:000324033700015
PM 23886709
DA 2025-04-10
ER

PT J
AU Lu, SHA
   Lee, KZ
   Hsu, PWC
   Su, LY
   Yeh, YC
   Pan, CY
   Tsai, SY
AF Lu, Serena Huei-An
   Lee, Kang-Zheng
   Hsu, Paul Wei-Che
   Su, Liang-Yu
   Yeh, Yu-Chen
   Pan, Chien-Yuan
   Tsai, Su-Yi
TI Alternative Splicing Mediated by RNA-Binding Protein RBM24 Facilitates
   Cardiac Myofibrillogenesis in a Differentiation Stage-Specific Manner
SO CIRCULATION RESEARCH
LA English
DT Article
DE actins; alternative splicing; human embryonic stem cells; sarcomeres;
   transcriptome
ID TITIN; EXPRESSION; CARDIOMYOPATHY; TRANSCRIPTOME; MYOSIN; FETAL; GENE
AB Background: Mutations in genes encoding sarcomeric proteins lead to failures in sarcomere assembly, the building blocks of contracting muscles, resulting in cardiomyopathies that are a leading cause of morbidity and mortality worldwide. Splicing variants of sarcomeric proteins are crucial at different stages of myofibrillogenesis, accounting for sarcomeric structural integrity. RBM24 (RNA-binding motif protein 24) is known as a tissue-specific splicing regulator that plays an essential role in cardiogenesis. However, it had been unclear if the developmental stage-specific alternative splicing facilitated by RBM24 contributes to sarcomere assembly and cardiogenesis. Our aim is to study the molecular mechanism by which RBM24 regulates cardiogenesis and sarcomere assembly in a temporal-dependent manner. Methods: We ablated RBM24 from human embryonic stem cells (hESCs) using CRISPR/Cas9 techniques. Results: Although RBM24(-/-) hESCs still differentiated into sarcomere-hosting cardiomyocytes, they exhibited disrupted sarcomeric structures with punctate Z-lines due to impaired myosin replacement during early myofibrillogenesis. Transcriptomics revealed >4000 genes regulated by RBM24. Among them, core myofibrillogenesis proteins (eg, ACTN2 [alpha-actinin 2], TTN [titin], and MYH10 [non-muscle myosin IIB]) were misspliced. Consequently, MYH6 (muscle myosin II) cannot replace nonmuscle myosin MYH10, leading to myofibrillogenesis arrest at the early premyofibril stage and causing disrupted sarcomeres. Intriguingly, we found that the ABD (actin-binding domain; encoded by exon 6) of the Z-line anchor protein ACTN2 is predominantly excluded from early cardiac differentiation, whereas it is consistently included in human adult heart. CRISPR/Cas9-mediated deletion of exon 6 from ACTN2 in hESCs, as well as forced expression of full-length ACTN2 in RBM24(-/-) hESCs, further corroborated that inclusion of exon 6 is critical for sarcomere assembly. Overall, we have demonstrated that RBM24-facilitated inclusion of exon 6 in ACTN2 at distinct stages of cardiac differentiation is evolutionarily conserved and crucial to sarcomere assembly and integrity. Conclusions: RBM24 acts as a master regulator to modulate the temporal dynamics of core myofibrillogenesis genes and thereby orchestrates sarcomere organization.
C1 [Lu, Serena Huei-An; Lee, Kang-Zheng; Su, Liang-Yu; Yeh, Yu-Chen; Pan, Chien-Yuan; Tsai, Su-Yi] Natl Taiwan Univ, Dept Life Sci, 1,Sec 4,Roosevelt Rd, Taipei 10617, Taiwan.
   [Tsai, Su-Yi] Natl Taiwan Univ, Genome & Syst Biol Degree Program, Taipei, Taiwan.
   [Tsai, Su-Yi] Natl Taiwan Univ, Res Ctr Dev Biol & Regenerat Med, Taipei, Taiwan.
   [Hsu, Paul Wei-Che] Natl Hlth Res Inst, Inst Mol & Genom Med, Zhunan Township, Miaoli County, Taiwan.
C3 National Taiwan University; National Taiwan University; National Taiwan
   University; National Health Research Institutes - Taiwan
RP Tsai, SY (corresponding author), Natl Taiwan Univ, Dept Life Sci, 1,Sec 4,Roosevelt Rd, Taipei 10617, Taiwan.
EM hueiann.lu@gmail.com; zheng1715@gmail.com; paul@nhri.edu.tw;
   may19980514@gmail.com; yehyuchen0328@gmail.com; cypan@ntu.edu.tw;
   suyitsai@ntu.edu.tw
RI Hsu, Paul/KPY-2153-2024
OI Lu, Serena/0000-0003-0434-8840; PAN, CHIEN-YUAN/0000-0002-6654-9309;
   Lee, Kang Zheng/0000-0001-9633-6235; Yeh, Yu-Chen/0000-0002-2803-5796
FU Ministry of Science and Technology, Taiwan [MOST 109-2314-B-002-087-MY3]
FX This work was supported by the Ministry of Science and Technology,
   Taiwan (MOST 109-2314-B-002-087-MY3 to S.-Y. Tsai).
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NR 36
TC 27
Z9 29
U1 2
U2 10
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD JAN 7
PY 2022
VL 130
IS 1
BP 112
EP 129
DI 10.1161/CIRCRESAHA.121.320080
PG 18
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA YC8HS
UT WOS:000739927500012
PM 34816743
DA 2025-04-10
ER

PT J
AU Huang, CM
   Chen, YC
   Lai, IL
   Chen, HD
   Huang, PH
   Tu, SJ
   Lee, YT
   Yen, JC
   Lin, CL
   Liu, TY
   Chang, JG
AF Huang, Chung-Ming
   Chen, Yu-Chia
   Lai, I-Lu
   Chen, Hong-Da
   Huang, Po-Hao
   Tu, Siang-Jyun
   Lee, Ya-Ting
   Yen, Ju-Chen
   Lin, Chia-Li
   Liu, Ting-Yuan
   Chang, Jan-Gowth
TI Exploring RNA modifications, editing, and splicing changes in
   hyperuricemia and gout
SO FRONTIERS IN MEDICINE
LA English
DT Article
DE gout; RNA modifications; RNA splicing; RNA editing; epigenomic
   regulations
ID INFLAMMATION; TARGETS
AB Hyperuricemia and gout are two of the most common metabolic disorders worldwide; their incidence is increasing with changes in lifestyle, and they are correlated with many diseases, including renal and cardiovascular diseases. The majority of studies on hyperuricemia and gout have focused on the discovery of the associated genes and their functions and on the roles of monocytes and neutrophils in the development of gout. Virtually no studies investigating the epigenomics of gout disease or exploring the clinical significance of such research have been conducted. In this study, we observed that the expression of enzymes involved in RNA modifications or RNA editing was affected in uric acid (UA)- or monosodium urate (MSU)-treated cell lines. RNA alternative splicing and splicing factors were also affected by UA or MSU treatment. We used transcriptome sequencing to analyze genome-wide RNA splicing and RNA editing and found significant changes in RNA splicing and RNA editing in MSU- or UA-treated THP-1 and HEK293 cells. We further found significant changes of RNA modifications, editing, and splicing in patients with gout. The data indicate that RNA modifications, editing, and splicing play roles in gout. The findings of this study may help to understand the mechanism of RNA splicing and modifications in gout, facilitating the development of new diagnostic and therapeutic strategies.
C1 [Huang, Chung-Ming; Chen, Yu-Chia; Lai, I-Lu; Chen, Hong-Da; Tu, Siang-Jyun; Lee, Ya-Ting; Yen, Ju-Chen; Lin, Chia-Li; Liu, Ting-Yuan; Chang, Jan-Gowth] China Med Univ Hosp, Ctr Precis Med, Taichung, Taiwan.
   [Huang, Chung-Ming; Huang, Po-Hao] China Med Univ Hosp, Dept Internal Med, Div Immunol & Rheumatol, Taichung, Taiwan.
   [Huang, Chung-Ming] China Med Univ, Grad Inst Integrated Med, Coll Chinese Med, Taichung, Taiwan.
   [Chen, Yu-Chia; Lai, I-Lu; Lee, Ya-Ting; Yen, Ju-Chen; Lin, Chia-Li; Liu, Ting-Yuan; Chang, Jan-Gowth] China Med Univ Hosp, Epigenome Res Ctr, Taichung, Taiwan.
   [Chen, Yu-Chia; Liu, Ting-Yuan] China Med Univ Hosp, Dept Med Res, Mill Person Precis Med Initiat, Taichung, Taiwan.
C3 China Medical University Taiwan; China Medical University Hospital -
   Taiwan; China Medical University Taiwan; China Medical University
   Hospital - Taiwan; China Medical University Taiwan; China Medical
   University Taiwan; China Medical University Hospital - Taiwan; China
   Medical University Taiwan; China Medical University Hospital - Taiwan
RP Chang, JG (corresponding author), China Med Univ Hosp, Ctr Precis Med, Taichung, Taiwan.; Chang, JG (corresponding author), China Med Univ Hosp, Epigenome Res Ctr, Taichung, Taiwan.
EM d6781@mail.cmuh.org.tw
RI Chung, Chi-Jung/G-4755-2013
OI tu, xiang jun/0000-0002-6385-8683
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NR 62
TC 1
Z9 1
U1 0
U2 5
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
EI 2296-858X
J9 FRONT MED-LAUSANNE
JI Front. Med.
PD SEP 6
PY 2022
VL 9
AR 889464
DI 10.3389/fmed.2022.889464
PG 16
WC Medicine, General & Internal
WE Science Citation Index Expanded (SCI-EXPANDED)
SC General & Internal Medicine
GA 6F8QA
UT WOS:000884322800001
PM 36148448
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Cetin, H
   Wöhrer, A
   Rittelmeyer, I
   Gencik, M
   Zulehner, G
   Zimprich, F
   Ströbel, T
   Zimprich, A
AF Cetin, H.
   Woehrer, A.
   Rittelmeyer, I.
   Gencik, M.
   Zulehner, G.
   Zimprich, F.
   Stroebel, T.
   Zimprich, A.
TI The c.65-2A&gt;G splice site mutation is associated with a mild
   phenotype in Danon disease due to the transcription of normal LAMP2 mRNA
SO CLINICAL GENETICS
LA English
DT Article
DE Danon disease; LAMP2; myopathy; storage disease; tissue-specific
   alternative splicing
ID HYPERTROPHIC CARDIOMYOPATHY; GENE
AB Danon disease (DD) is a rare X-linked multisystem disorder caused by mutations of the LAMP2 gene and characterized by intellectual disability, skeletal myopathy and cardiomyopathy. The survival time is severely reduced. Contrasting with the usual disease course, we report on a family with an exceptionally mild phenotype of DD despite having two potentially damaging LAMP2 mutations. Using RNA-Seq analysis, we showed that a c.65-2A>G splice site mutation results in the tissue-specific production of four different transcripts including the full-length mRNA in muscle tissue but not in leukocytes. We confirmed our results by immunohistochemistry and immunoblotting, showing the detection of LAMP2 protein only in muscle. The second mutation (c.586A>T, p.T196S) has been reported before to have an uncertain clinical significance. In our patients, however, neither of the two mutations seem to have a high enough functional impact to cause a severe phenotype. Overall, our study reveals that alternative splicing is a potential mechanism in DD with underlying splice site mutations of the LAMP2 gene in order to rescue the full-length mRNA. Moreover, our report of a mild phenotype complements the DD spectrum, which is of great importance for a rare disease suspected to be underdiagnosed.
C1 [Cetin, H.; Zulehner, G.; Zimprich, F.; Zimprich, A.] Med Univ Vienna, Dept Neurol, Waehringer Guertel 18-20, A-1090 Vienna, Austria.
   [Woehrer, A.; Stroebel, T.] Med Univ Vienna, Inst Neurol, Vienna, Austria.
   [Rittelmeyer, I.; Gencik, M.] Ctr Human Genet, Vienna, Austria.
C3 Medical University of Vienna; Medical University of Vienna
RP Cetin, H (corresponding author), Med Univ Vienna, Dept Neurol, Waehringer Guertel 18-20, A-1090 Vienna, Austria.
EM hakan.cetin@meduniwien.ac.at
RI Zimprich, Fritz/O-1406-2019; Zimprich, Fritz/W-1738-2017; Zimprich,
   Alexander/A-5232-2017
OI Zimprich, Fritz/0000-0002-6998-5480; Cetin, Hakan/0000-0001-9009-7261;
   Zimprich, Alexander/0000-0002-1668-5177; Woehrer,
   Adelheid/0000-0001-8435-8189
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NR 12
TC 11
Z9 11
U1 0
U2 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-9163
EI 1399-0004
J9 CLIN GENET
JI Clin. Genet.
PD OCT
PY 2016
VL 90
IS 4
BP 366
EP 371
DI 10.1111/cge.12724
PG 6
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA DX9YQ
UT WOS:000384753600009
PM 26748608
DA 2025-04-10
ER

PT J
AU Eisenreich, A
   Bogdanov, VY
   Zakrzewicz, A
   Pries, A
   Antoniak, S
   Poller, W
   Schultheiss, HP
   Rauch, U
AF Eisenreich, Andreas
   Bogdanov, Vladimir Y.
   Zakrzewicz, Andreas
   Pries, Axel
   Antoniak, Silvio
   Poller, Wolfgang
   Schultheiss, Heinz-Peter
   Rauch, Ursula
TI Cdc2-Like Kinases and DNA Topoisomerase I Regulate Alternative Splicing
   of Tissue Factor in Human Endothelial Cells
SO CIRCULATION RESEARCH
LA English
DT Article
DE cardiovascular research; endothelial cells; tissue factor; tumor
   necrosis factor; vascular biology
ID SR PROTEINS; SPECIFICITY; LOCALIZATION; MECHANISMS
AB Tumor necrosis factor (TNF)-alpha-stimulated human umbilical vein endothelial cells express 2 naturally occurring forms of tissue factor (TF), the primary initiator of blood coagulation: the soluble alternatively spliced isoform and the full-length TF isoform. The regulatory pathways enabling this phenomenon are completely unknown. Cdc2-like kinases and DNA topoisomerase I regulate alternative splicing via phosphorylation of serine/arginine-rich proteins. In this study, we examined effects of serine/arginine-rich protein kinases on TF splicing following stimulation with TNF-alpha. Human endothelial cells were pretreated with specific inhibitors or small interfering RNAs against Cdc2-like kinases and DNA topoisomerase I before stimulation with TNF-alpha. TF levels were determined by semiquantitative RT-PCR, real-time PCR, and Western blotting. Cellular procoagulant activity was analyzed in a chromogenic TF activity assay. All 4 known Cdc2-like kinases forms were expressed in human endothelial cells. Selective inhibition of Cdc2-like kinases and DNA topoisomerase I elicited distinct changes in TF biosynthesis in TNF-alpha-stimulated endothelial cells, which impacted endothelial procoagulant activity. This study is the first to demonstrate that serine/arginine-rich protein kinases modulate splicing of TF pre-mRNA in human endothelial cells and, consequently, endothelial procoagulant activity under inflammatory conditions. (Circ Res. 2009; 104: 589-599.)
C1 [Eisenreich, Andreas; Antoniak, Silvio; Poller, Wolfgang; Schultheiss, Heinz-Peter; Rauch, Ursula] Charite, Ctr Herz & Kreislaufmed, D-13353 Berlin, Germany.
   [Zakrzewicz, Andreas; Pries, Axel] Charite, Inst Physiol, D-13353 Berlin, Germany.
   [Bogdanov, Vladimir Y.] Mt Sinai Sch Med, Dept Med, Div Hematol & Med Oncol, New York, NY USA.
C3 Berlin Institute of Health; Free University of Berlin; Humboldt
   University of Berlin; Charite Universitatsmedizin Berlin; Berlin
   Institute of Health; Free University of Berlin; Humboldt University of
   Berlin; Charite Universitatsmedizin Berlin; Icahn School of Medicine at
   Mount Sinai
RP Rauch, U (corresponding author), Charite, Ctr Herz & Kreislaufmed, Campus Benjamin Franklin, D-13353 Berlin, Germany.
EM ursula.rauch@charite.de
RI Schultheiss, Heinz-Peter/HMP-2467-2023; Poller, Wolfgang/AAB-2185-2021
OI Eisenreich, Andreas/0000-0002-0615-7901; Bogdanov,
   Vladimir/0000-0003-4968-1129; Poller, Wolfgang/0000-0002-2805-6634;
   Antoniak, Silvio/0000-0001-5523-825X
FU Deutsche Forschungsgemeinschaft [GRK 865, SFB-TR19]; NIH [DK065752]
FX This work was supported, in part, by Deutsche Forschungsgemeinschaft
   grants GRK 865 (to U. R. and W. P.) and SFB-TR19 (to U. R. W. P. and
   H.-P. S.) and NIH grant DK065752 (to V. Y. B.).
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NR 30
TC 68
Z9 78
U1 0
U2 7
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD MAR 13
PY 2009
VL 104
IS 5
BP 589
EP U59
DI 10.1161/CIRCRESAHA.108.183905
PG 17
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 418CX
UT WOS:000264125900007
PM 19168442
OA Bronze
DA 2025-04-10
ER

PT J
AU Suh, J
   Im, DS
   Moon, GJ
   Ryu, KS
   de Silva, R
   Choi, IS
   Lees, AJ
   Guénette, SY
   Tanzi, RE
   Gwag, BJ
AF Suh, Jaehong
   Im, Doo Soon
   Moon, Gyeong Joon
   Ryu, Keun Sil
   de Silva, Rohan
   Choi, In Sun
   Lees, Andrew J.
   Guenette, Suzanne Y.
   Tanzi, Rudolph E.
   Gwag, Byoung Joo
TI Hypoxic ischemia and proteasome dysfunction alter tau isoform ratio by
   inhibiting exon 10 splicing
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Article
DE ischemia; proteasome; splicing; tau; tra2 beta
ID PROGRESSIVE SUPRANUCLEAR PALSY; TRANSIENT CEREBRAL-ISCHEMIA; CORTICAL
   CELL-CULTURES; ALZHEIMERS-DISEASE; MUTANT UBIQUITIN;
   MONOCLONAL-ANTIBODIES; OXIDATIVE STRESS; NEURONAL DEATH; MESSENGER-RNA;
   CYCLE REENTRY
AB P>Alternative splicing of tau exon 10 influences microtubule assembly and stability during development and in pathological processes of the central nervous system. However, the cellular events that underlie this pre-mRNA splicing remain to be delineated. In this study, we examined the possibility that ischemic injury, known to change the cellular distribution and expression of several RNA splicing factors, alters the splicing of tau exon 10. Transient occlusion of the middle cerebral artery reduced tau exon 10 inclusion in the ischemic cortical area within 12 h, resulting in the induction of three-repeat (3R) tau in cortical neurons. Ubiquitinated protein aggregates and reduced proteasome activity were also observed. Administration of proteasome inhibitors such as MG132, proteasome inhibitor I and lactacystin reduced tau exon 10 splicing in cortical cell cultures. Decreased levels of Tra2 beta, an RNA splicing factor responsible for tau exon 10 inclusion, were detected both in cortical cell cultures exposed to MG132 and in cerebral cortex after ischemic injury. Taken together, these findings suggest that transient focal cerebral ischemia reduces tau exon 10 splicing through a mechanism involving proteasome-ubiquitin dysfunction and down-regulation of Tra2 beta.
C1 [Suh, Jaehong; Ryu, Keun Sil; Choi, In Sun; Gwag, Byoung Joo] Ajou Univ, Dept Pharmacol, Sch Med, Suwon 442749, South Korea.
   [Suh, Jaehong; Im, Doo Soon; Moon, Gyeong Joon; Ryu, Keun Sil; Choi, In Sun; Gwag, Byoung Joo] Ajou Univ, Res Inst Neural Sci & Technol, Sch Med, Suwon 442749, South Korea.
   [Suh, Jaehong; Guenette, Suzanne Y.; Tanzi, Rudolph E.] Massachusetts Gen Hosp, Genet & Aging Res Unit MIND, Charlestown, MA USA.
   [Suh, Jaehong; Guenette, Suzanne Y.; Tanzi, Rudolph E.] Harvard Univ, Sch Med, Charlestown, MA USA.
   [Im, Doo Soon; Moon, Gyeong Joon; Choi, In Sun; Gwag, Byoung Joo] Ajou Univ, Interdisciplinary Course Neurosci & Technol, Sch Med, Suwon 442749, South Korea.
   [Moon, Gyeong Joon; Gwag, Byoung Joo] Neurotech Pharmaceut Co, Suwon, South Korea.
   [de Silva, Rohan; Lees, Andrew J.] UCL, Reta Lila Weston Inst Neurol Studies, London, England.
C3 Ajou University; Ajou University; Harvard University; Harvard University
   Medical Affiliates; Massachusetts General Hospital; Harvard University;
   Ajou University; University of London; University College London
RP Gwag, BJ (corresponding author), Ajou Univ, Dept Pharmacol, Sch Med, San 5, Suwon 442749, South Korea.
EM bjgwag@ajou.ac.kr
RI Moon, Gyeong/P-7878-2019; Tanzi, Rudolph/AAE-9622-2019; de Silva,
   Rohan/C-1734-2008; Lees, Andrew/A-6605-2009
OI Moon, Gyeong Joon/0000-0002-2851-9563; Im, Doo Soon/0000-0001-5713-3849
FU Ajou University; MRC [G0501560] Funding Source: UKRI
FX We are grateful to Dr. Stefan Stamm (University of Erlangen, Germany)
   for providing Tra2 beta antibody. We thank Dr. Hyung-Hwan Kim (Harvard
   Medical School) for his scientific expertise and Mi Young Ryu for
   technical assistance. This work was supported by the Brain Korea 21
   Project for Medical Science, Ajou University (B.J.G.).
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NR 50
TC 10
Z9 11
U1 0
U2 5
PU WILEY-BLACKWELL
PI MALDEN
PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD JUL
PY 2010
VL 114
IS 1
BP 160
EP 170
DI 10.1111/j.1471-4159.2010.06732.x
PG 11
WC Biochemistry & Molecular Biology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 608FA
UT WOS:000278567100015
PM 20374429
OA Bronze
DA 2025-04-10
ER

PT J
AU Cabral, RM
   Wan, H
   Cole, CL
   Abrams, DJ
   Kelsell, DP
   South, AP
AF Cabral, Rita M.
   Wan, Hong
   Cole, Clare L.
   Abrams, Dominic J.
   Kelsell, David P.
   South, Andrew P.
TI Identification and characterization of DSPIa, a novel isoform of human
   desmoplakin
SO CELL AND TISSUE RESEARCH
LA English
DT Article
DE Desmosome; Desmoplakin; Isoform; Splice site; Quantitative polymerase
   chain reaction; Human
ID INTERMEDIATE-FILAMENT NETWORKS; STRIATE PALMOPLANTAR KERATODERMA;
   PRE-MESSENGER-RNA; DESMOSOMAL PLAQUE; COOH TERMINUS; WOOLLY HAIR;
   CARDIOMYOPATHY; EXPRESSION; KERATIN; CELLS
AB Desmoplakin is a ubiquitous component of desmosomes and desmosome-like structures, such as the cardiomyocyte area composita. Two major isoforms, desmoplakin I (DSPI) and desmoplakin II (DSPII) are encoded by alternative mRNA transcripts differentially spliced from the same gene. The resulting proteins are identical in amino acid sequence with the exception that DSPII contains only one third of the central alpha-helical rod domain present in DSPI. Here we describe a novel minor isoform of desmoplakin that is also produced by alternative splicing of the desmoplakin gene and that we name desmoplakin Ia (DSPIa). DSPIa is an alternatively spliced DSPI mRNA with a unique splice donor site that is 90% homologous to and downstream of the DSPII specific donor. The resulting DSPIa mRNA is in-frame and encodes a protein that has a central alpha-helical rod domain of intermediate size and that is 156 amino acids larger than DSPII and 443 amino acids smaller than DSPI. We demonstrate, through recombinant expression and short interfering RNA knockdown, that the DSPIa protein is readily detectable, albeit at substantially lower levels than the dominant isoforms, DSPI and DSPII. DSPIa mRNA has a similar tissue distribution to that of DSPI and of DSPII.
C1 [Cole, Clare L.; South, Andrew P.] Univ Dundee, Ctr Oncol & Mol Med, Ninewells Hosp & Med Sch, Dundee DD1 9SY, Scotland.
   [Cabral, Rita M.; Kelsell, David P.; South, Andrew P.] Univ London, Blizard Inst Cell & Mol Sci, Ctr Cutaneous Res, London, England.
   [Wan, Hong] Univ London, Inst Dent, Ctr Clin & Diagnost Oral Sci, Barts & London Sch Med & Dent, London, England.
   [Abrams, Dominic J.] St Bartholomews Hosp, Dept Cardiac Electrophysiol, London, England.
C3 University of Dundee; University of London; Queen Mary University
   London; University of London; Queen Mary University London; University
   of London; Queen Mary University London
RP South, AP (corresponding author), Univ Dundee, Ctr Oncol & Mol Med, Ninewells Hosp & Med Sch, Dundee DD1 9SY, Scotland.
EM a.p.south@dundee.ac.uk
RI Cabral, Rita/G-5706-2013; Kelsell, David/F-8767-2011; Abrams,
   Dominic/AAD-8306-2021
OI Abrams, Dominic/0000-0001-5266-2805; Cabral, Rita/0000-0003-2741-8100;
   Kelsell, David/0000-0002-9910-7144
FU Barts' and The London Charity; Medical Research Council; Dystrophic
   Epidermolysis Research Association
FX This work was supported by Barts' and The London Charity, Medical
   Research Council and the Dystrophic Epidermolysis Research Association.
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NR 50
TC 17
Z9 20
U1 0
U2 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0302-766X
J9 CELL TISSUE RES
JI Cell Tissue Res.
PD JUL
PY 2010
VL 341
IS 1
BP 121
EP 129
DI 10.1007/s00441-010-0989-1
PG 9
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 620LE
UT WOS:000279500600010
PM 20524011
OA Green Submitted, Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Gedicke-Hornung, C
   Behrens-Gawlik, V
   Reischmann, S
   Geertz, B
   Stimpel, D
   Weinberger, F
   Schlossarek, S
   Précigout, G
   Braren, I
   Eschenhagen, T
   Mearini, G
   Lorain, S
   Voit, T
   Dreyfus, PA
   Garcia, L
   Carrier, L
AF Gedicke-Hornung, Christina
   Behrens-Gawlik, Verena
   Reischmann, Silke
   Geertz, Birgit
   Stimpel, Doreen
   Weinberger, Florian
   Schlossarek, Saskia
   Precigout, Guillaume
   Braren, Ingke
   Eschenhagen, Thomas
   Mearini, Giulia
   Lorain, Stephanie
   Voit, Thomas
   Dreyfus, Patrick A.
   Garcia, Luis
   Carrier, Lucie
TI Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in
   Mybpc3-targeted knock-in mice
SO EMBO MOLECULAR MEDICINE
LA English
DT Article
DE alternative splicing; antisense oligoribonucleotide; cardiac
   myosin-binding protein-C; exon skipping; hypertrophic cardiomyopathy
ID BINDING-PROTEIN-C; RESTORES DYSTROPHIN EXPRESSION; DUCHENNE
   MUSCULAR-DYSTROPHY; UBIQUITIN-PROTEASOME SYSTEM; CARDIAC GENE-TRANSFER;
   SPLICE DONOR SITE; HYPERTROPHIC CARDIOMYOPATHY; ANTISENSE
   OLIGONUCLEOTIDES; DILATED CARDIOMYOPATHY; MUTATIONS
AB Exon skipping mediated by antisense oligoribonucleotides (AON) is a promising therapeutic approach for genetic disorders, but has not yet been evaluated for cardiac diseases. We investigated the feasibility and efficacy of viral-mediated AON transfer in a Mybpc3-targeted knock-in (KI) mouse model of hypertrophic cardiomyopathy (HCM). KI mice carry a homozygous G>A transition in exon 6, which results in three different aberrant mRNAs. We identified an alternative variant (Var-4) deleted of exons 5-6 in wild-type and KI mice. To enhance its expression and suppress aberrant mRNAs we designed AON-5 and AON-6 that mask splicing enhancer motifs in exons 5 and 6. AONs were inserted into modified U7 small nuclear RNA and packaged in adeno-associated virus (AAV-U7-AON-5+6). Transduction of cardiac myocytes or systemic administration of AAV-U7-AON-5+6 increased Var-4 mRNA/protein levels and reduced aberrant mRNAs. Injection of newborn KI mice abolished cardiac dysfunction and prevented left ventricular hypertrophy. Although the therapeutic effect was transient and therefore requires optimization to be maintained over an extended period, this proof-of-concept study paves the way towards a causal therapy of HCM.
C1 [Gedicke-Hornung, Christina; Behrens-Gawlik, Verena; Reischmann, Silke; Geertz, Birgit; Stimpel, Doreen; Weinberger, Florian; Schlossarek, Saskia; Braren, Ingke; Eschenhagen, Thomas; Mearini, Giulia; Carrier, Lucie] Univ Med Ctr Hamburg Eppendorf, Dept Expt Pharmacol & Toxicol, Cardiovasc Res Ctr, Hamburg, Germany.
   [Precigout, Guillaume; Lorain, Stephanie; Voit, Thomas; Dreyfus, Patrick A.; Garcia, Luis; Carrier, Lucie] Inst Myol, CNRS, INSERM, U974,UMR7215, Paris, France.
   [Precigout, Guillaume; Lorain, Stephanie; Voit, Thomas; Dreyfus, Patrick A.; Garcia, Luis; Carrier, Lucie] Univ Paris 06, Paris, France.
   [Braren, Ingke] Univ Med Ctr Hamburg Eppendorf, Hamburg Zentrum Expt Therapieforsch HEXT, Vector Core Unit, Dept Expt Pharmacol & Toxicol, Hamburg, Germany.
C3 Berlin Institute of Health; Free University of Berlin; Humboldt
   University of Berlin; Charite Universitatsmedizin Berlin; University of
   Hamburg; University Medical Center Hamburg-Eppendorf; Centre National de
   la Recherche Scientifique (CNRS); Institut National de la Sante et de la
   Recherche Medicale (Inserm); Sorbonne Universite; Sorbonne Universite;
   University of Hamburg; University Medical Center Hamburg-Eppendorf
RP Carrier, L (corresponding author), Univ Med Ctr Hamburg Eppendorf, Dept Expt Pharmacol & Toxicol, Cardiovasc Res Ctr, Hamburg, Germany.
EM l.carrier@uke.de
RI Schlossarek, Saskia/JDW-8726-2023; Mearini, Giulia/KCL-3068-2024;
   Carrier, Lucie/HLX-3022-2023; Weinberger, Florian/HDM-2995-2022
OI Lorain, Stephanie/0000-0001-5266-9994
FU Deutsche Forschungsgemeinschaft [FOR-604/1-2, CA 618/1-2]; Fritz Thyssen
   Stiftung [Az.10.09.1.139]; European Union [Health-F2-2009-241577];
   German Centre for Cardiovascular Research (Deutsches Zentrum fur
   Herz-Kreislauf-Forschung e.v., DZHK)
FX We thank Julie Johnston (Penn Vector Core, University of Pennsylvania,
   PA, USA) for supplying the recombinant AAV vector pE5/9, Evelyn Bendrat
   and Michaela Miehe (UKE-HEXT, Hamburg, Germany) for AAV6 production. We
   thank Siegfried Labeit (Heidelberg, Germany) for providing the
   anti-titin Z1 antibody and Sakthivel Sadayappan (Loyola University
   Chicago, IL, USA) for providing antibodies directed against
   cMyBP-C-2-14aa, Ser273-, and Ser-302-cMyBP-C. We thank Vincent
   Christoffels and Malou van den Boogaard (Amsterdam, The Netherlands) for
   providing embryonic mouse heart samples. We also thank Cyriaque Beley
   (Inserm U974, Paris, France) for supplying the pAAV-U7 plasmid, as well
   as June Uebeler (UKE-Pharmacology, Hamburg, Germany) for technical help.
   This work was supported by the Deutsche Forschungsgemeinschaft
   (FOR-604/1-2, CA 618/1-2), the Fritz Thyssen Stiftung (Az.10.09.1.139),
   the seventh Framework Program of the European Union
   (Health-F2-2009-241577; Big-Heart project), and by the German Centre for
   Cardiovascular Research (Deutsches Zentrum fur Herz-Kreislauf-Forschung
   e.v., DZHK).
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NR 61
TC 78
Z9 82
U1 0
U2 8
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1757-4676
EI 1757-4684
J9 EMBO MOL MED
JI EMBO Mol. Med.
PD JUL
PY 2013
VL 5
IS 7
BP 1128
EP 1145
DI 10.1002/emmm.201202168
PG 18
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA 238JL
UT WOS:000325942300013
PM 23716398
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Huang, QY
   Wang, J
   Zhang, XL
   Guo, MZ
   Yu, GX
AF Huang, Qiuyue
   Wang, Jun
   Zhang, Xiangliang
   Guo, Maozu
   Yu, Guoxian
TI IsoDA: Isoform-Disease Association Prediction by Multiomics Data Fusion
SO JOURNAL OF COMPUTATIONAL BIOLOGY
LA English
DT Article
DE alternative splicing; data fusion and multi-instance learning;
   isoform-disease association; multi-omics data
ID APOLIPOPROTEIN-E; RNA-SEQ; GENE; NETWORK; TRANSCRIPTOME; ONTOLOGY;
   CANCER; VEGF; TOOL
AB A gene can be spliced into different isoforms by alternative splicing, which contributes to the functional diversity of protein species. Computational prediction of gene-disease associations (GDAs) has been studied for decades. However, the process of identifying the isoform-disease associations (IDAs) at a large scale is rarely explored, which can decipher the pathology at a more granular level. The main bottleneck is the lack of IDAs in current databases and the multilevel omics data fusion. To bridge this gap, we propose a computational approach called Isoform-Disease Association prediction by multiomics data fusion (IsoDA) to predict IDAs. Based on the relationship between a gene and its spliced isoforms, IsoDA first introduces a dispatch and aggregation term to dispatch gene-disease associations to individual isoforms, and reversely aggregate these dispatched associations to their hosting genes. At the same time, it fuses the genome, transcriptome, and proteome data by joint matrix factorization to improve the prediction of IDAs. Experimental results show that IsoDA significantly outperforms the related state-of-the-art methods at both the gene level and isoform level. A case study further shows that IsoDA credibly identifies three isoforms spliced from apolipoprotein E, which have individual associations with Alzheimer's disease, and two isoforms spliced from vascular endothelial growth factor A, which have different associations with coronary heart disease. The codes of IsoDA are available at http://mlda.swu.edu.cn/codes.php?name=IsoDA
C1 [Huang, Qiuyue; Yu, Guoxian] Southwest Univ, Coll Comp & Informat Sci, Chongqing, Peoples R China.
   [Huang, Qiuyue; Wang, Jun; Yu, Guoxian] Shandong Univ, Sch Software, 1500 ShunHua Rd, Jinan 250101, Shandong, Peoples R China.
   [Zhang, Xiangliang; Yu, Guoxian] King Abdullah Univ Sci & Technol, Dept Comp Sci, Comp Elect & Math Sci & Engn Div, Thuwal, Saudi Arabia.
   [Guo, Maozu] Beijing Univ Civil Engn & Architecture, Coll Elect & Informat Engn, Dept Comp Sci, Beijing, Peoples R China.
C3 Southwest University - China; Shandong University; King Abdullah
   University of Science & Technology; Beijing University of Civil
   Engineering & Architecture
RP Yu, GX (corresponding author), Shandong Univ, Sch Software, 1500 ShunHua Rd, Jinan 250101, Shandong, Peoples R China.; Guo, MZ (corresponding author), Beijing Univ Civil Engn & Architecture, Coll Elect & Informat Engn, Beijing 102616, Peoples R China.
EM guomaozu@buecea.edu.cn; gxyu@sdu.edu.cn
RI Zhang, Xiangliang/AAG-2238-2021
OI Zhang, Xiangliang/0000-0002-3574-5665
FU National Natural Science Foundation of China [61872300, 62031003,
   62072380]
FX This research is supported by the National Natural Science Foundation of
   China (Grant Nos. 61872300, 62031003, and 62072380).
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NR 56
TC 0
Z9 0
U1 1
U2 10
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1066-5277
EI 1557-8666
J9 J COMPUT BIOL
JI J. Comput. Biol.
PD AUG 1
PY 2021
VL 28
IS 8
BP 804
EP 819
DI 10.1089/cmb.2020.0626
EA APR 2021
PG 16
WC Biochemical Research Methods; Biotechnology & Applied Microbiology;
   Computer Science, Interdisciplinary Applications; Mathematical &
   Computational Biology; Statistics & Probability
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
   Computer Science; Mathematical & Computational Biology; Mathematics
GA TV9HW
UT WOS:000638000900001
PM 33826865
OA Green Submitted
DA 2025-04-10
ER

PT J
AU Giudice, J
   Xia, Z
   Wang, ET
   Scavuzzo, MA
   Ward, AJ
   Kalsotra, A
   Wang, W
   Wehrens, XHT
   Burge, CB
   Li, W
   Cooper, TA
AF Giudice, Jimena
   Xia, Zheng
   Wang, Eric T.
   Scavuzzo, Marissa A.
   Ward, Amanda J.
   Kalsotra, Auinash
   Wang, Wei
   Wehrens, Xander H. T.
   Burge, Christopher B.
   Li, Wei
   Cooper, Thomas A.
TI Alternative splicing regulates vesicular trafficking genes in
   cardiomyocytes during postnatal heart development
SO NATURE COMMUNICATIONS
LA English
DT Article
ID EXPRESSION; MICRORNAS; CUGBP1; OVEREXPRESSION; QUANTIFICATION;
   ABNORMALITIES; MATURATION; SEQUENCES; REVEALS; NETWORK
AB During postnatal development the heart undergoes a rapid and dramatic transition to adult function through transcriptional and post-transcriptional mechanisms, including alternative splicing (AS). Here we perform deep RNA-sequencing on RNA from cardiomyocytes and cardiac fibroblasts to conduct a high-resolution analysis of transcriptome changes during postnatal mouse heart development. We reveal extensive changes in gene expression and AS that occur primarily between postnatal days 1 and 28. Cardiomyocytes and cardiac fibroblasts show reciprocal regulation of gene expression reflecting differences in proliferative capacity, cell adhesion functions and mitochondrial metabolism. We further demonstrate that AS plays a role in vesicular trafficking and membrane organization. These AS transitions are enriched among targets of two RNA-binding proteins, Celf1 and Mbnl1, which undergo developmentally regulated changes in expression. Vesicular trafficking genes affected by AS during normal development (when Celf1 is downregulated) show a reversion to neonatal splicing patterns after Celf1 re-expression in adults. Short-term Celf1 induction in adult animals results in disrupted transverse tubule organization and calcium handling. These results identify potential roles for AS in multiple aspects of postnatal heart maturation, including vesicular trafficking and intracellular membrane dynamics.
C1 [Giudice, Jimena; Scavuzzo, Marissa A.; Ward, Amanda J.; Kalsotra, Auinash; Cooper, Thomas A.] Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA.
   [Xia, Zheng; Ward, Amanda J.; Li, Wei; Cooper, Thomas A.] Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA.
   [Xia, Zheng; Li, Wei] Baylor Coll Med, Dan L Duncan Canc Ctr, Div Biostat, Houston, TX 77030 USA.
   [Wang, Eric T.; Burge, Christopher B.] MIT, Dept Biol, Cambridge, MA 02139 USA.
   [Wang, Eric T.] MIT, Koch Inst Integrat Canc Res, Cambridge, MA 02139 USA.
   [Wang, Wei; Wehrens, Xander H. T.; Cooper, Thomas A.] Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA.
   [Wehrens, Xander H. T.] Baylor Coll Med, Dept Med, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine; Baylor College
   of Medicine; Massachusetts Institute of Technology (MIT); Massachusetts
   Institute of Technology (MIT); Baylor College of Medicine; Baylor
   College of Medicine
RP Cooper, TA (corresponding author), Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA.
EM tcooper@bcm.edu
RI Burge, Christopher/AAH-2177-2020; wang, eric/LKM-0410-2024; Li,
   Wei/A-8544-2009; Wehrens, Xander/AAQ-9574-2020; Giudice,
   Jimena/N-5156-2016; Xia, Zheng/F-6561-2014
OI Kalsotra, Auinash/0000-0002-1011-0006; Li, Wei/0000-0001-9931-5990;
   Giudice, Jimena/0000-0002-3330-7784; Whipple,
   Amanda/0000-0002-7000-2453; Scavuzzo, Marissa/0000-0003-0651-6369; Wang,
   Eric/0000-0003-2655-5525; Wehrens, Xander/0000-0001-5044-672X; Xia,
   Zheng/0000-0003-3364-8324
FU NIH [R01HL045565, R01AR060733, R01AR045653, R01HG007538, HL089598,
   HL091947, HL117641]; Muscular Dystrophy Association (MDA) [276796]; Pew
   Charitable Trusts [2933]; Myotonic Dystrophy Foundation; American Heart
   Association [11SDG4980011, 13EIA14560061]; National Institute of
   Neurological Disorders and Stroke (NINDS) [F31NS067740]; CPRIT
   [RP110471]; DOD [W81XWH-10-1-0501]; Muscular Dystrophy Association
   [186530]; Fondation Leducq [08CVD01]; American Heart Association (AHA)
   [11SDG4980011] Funding Source: American Heart Association (AHA)
FX We thank Donnie Bundman (Baylor College of Medicine) for technical
   assistance, Rebecca L. Thornton (Baylor College of Medicine) for help
   with RNA-seq details, Corey L. Reynolds and Mouse Phenotyping Core
   (Baylor College of Medicine) for electro-and echocardiograms, Gloria
   Vittone-Echeverria, Simona Pedrotti and Ravi Singh (Baylor College of
   Medicine) for critical reading of the manuscript. This project was
   funded by the NIH (R01HL045565, R01AR060733 and R01AR045653) and
   Muscular Dystrophy Association (MDA 276796) grants to T.A.C. RNA-seq was
   performed in the Genomic and RNA Profiling Core (Baylor College of
   Medicine) with the assistance of the Core Director (L. D. White, PhD).
   J.G. is a Pew Latin American Fellow in the Biomedical Sciences supported
   by The Pew Charitable Trusts (# 2933). E.T.W. was funded by a
   post-doctoral fellowship from Myotonic Dystrophy Foundation. A.K. is
   funded by the American Heart Association (scientist development
   Grant-11SDG4980011). A.J.W. was funded by National Institute of
   Neurological Disorders and Stroke (NINDS-F31NS067740). W.L. is funded by
   CPRIT (RP110471), DOD (W81XWH-10-1-0501) and NIH (R01HG007538) grants.
   X.H.T.W. is funded by NIH (HL089598, HL091947 and HL117641), the
   American Heart Association (13EIA14560061), Muscular Dystrophy
   Association (186530) and Fondation Leducq (08CVD01) grants.
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NR 63
TC 116
Z9 133
U1 0
U2 12
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD APR
PY 2014
VL 5
AR 3603
DI 10.1038/ncomms4603
PG 15
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA AG2BQ
UT WOS:000335220700008
PM 24752171
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Chioni, AM
   Fraser, SP
   Pani, F
   Foran, P
   Wilkin, GP
   Diss, JKJ
   Djamgoz, MBA
AF Chioni, AM
   Fraser, SP
   Pani, F
   Foran, P
   Wilkin, GP
   Diss, JKJ
   Djamgoz, MBA
TI A novel polyclonal antibody specific for the Nav 1.5
   voltage-gated Na<SUP>+</SUP> channel 'neonatal' splice form
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE voltage-gated sodium channel; cardiac; Na-v 1.5; neonatal splice form;
   polyclonal antibody; development; patch clamp recording; channel blocker
ID RAT PROSTATE-CANCER; DEPENDENT SODIUM-CHANNEL; FUNCTIONAL EXPRESSION;
   ALPHA-SUBUNIT; CELL-LINES; METASTATIC CASCADE; POTASSIUM CHANNELS;
   MESSENGER-RNAS; GROWTH-FACTOR; ION CHANNELS
AB Voltage-gated Na+ channel (VGSC) diversity is achieved through a number of mechanisms: multiple subunits, multiple genes encoding the pore-forming VGSC alpha-subunit and multiple gene isoforms generated by alternative splicing. A major type of VGSC alpha alternative splicing is in D1:S3, which has been proposed to he developmentally regulated. We recently reported a D1:S3 spliced form of Na, 1.5 in human metastatic breast cancer cells. This novel 'neonatal' isoform differs from the counterpart 'adult' form at seven amino acids (in the extracellular loop between S3-S4 of D1). Here, we generated an anti-peptide polyclonal antibody, named NESOpAb, which specilically recognised 'neonatal' but not 'adult' Na, 1.5 when tested on cells specifically over-expressing one or other of these Na, 1.5 spliced forms, The antibody was used to investigate developmental expression of 'neonatal' Na, 1.5 (nNa, 1.5) in a range of mouse tissues by immunohistochemistry, Overall, the results were consistent with nNa, 1.5 protein being more abundantly expressed in selected tissues (particularly heart and brain) from neonate as compared to adult animals. Importantly, NESOpAb blocked functional nNa, 1.5 ion conductance when applied extracellularly at concentrations as low as 0.05 ng/ml. Possible biological and clinical applications of NESOpAb are discussed. (c) 2005 Elsevier B.V. All rights reserved.
C1 Univ London Imperial Coll Sci Technol & Med, Div Cell & Mol Biol, Neurosci Solut Canc Res Grp, London SW7 2AZ, England.
C3 Imperial College London
RP Univ London Imperial Coll Sci Technol & Med, Div Cell & Mol Biol, Neurosci Solut Canc Res Grp, Sir Alexander Fleming Bldg,S Kensington Campus, London SW7 2AZ, England.
EM m.djamgoz@imperial.ac.uk
RI Pani, Fabiana/HKF-3631-2023; Djamgoz, Mustafa/KJL-8515-2024; Diss,
   James/C-5994-2008
OI Diss, James/0000-0003-4988-257X
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NR 54
TC 87
Z9 109
U1 1
U2 11
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD SEP 30
PY 2005
VL 147
IS 2
BP 88
EP 98
DI 10.1016/j.jneumeth.2005.03.010
PG 11
WC Biochemical Research Methods; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 964YX
UT WOS:000231918000003
PM 16111763
DA 2025-04-10
ER

PT J
AU Yao, FY
   Huang, SS
   Liu, JH
   Tan, CH
   Xu, MQ
   Wang, DK
   Huang, MQ
   Zhu, YY
   Huang, XX
   He, SJ
AF Yao, Fenyong
   Huang, Shisheng
   Liu, Jiahui
   Tan, Chunhua
   Xu, Mengqi
   Wang, Dengkui
   Huang, Maoqing
   Zhu, Yiyao
   Huang, Xingxu
   He, Shuijin
TI Deletion of ARGLU1 causes global defects in alternative splicing in vivo
   and mouse cortical malformations primarily via apoptosis
SO CELL DEATH & DISEASE
LA English
DT Article
ID OUTER SUBVENTRICULAR ZONE; NEURONAL MIGRATION; RADIAL GLIA; CELL; MDM4;
   PROGENITORS; SPLICEOSOME; INHIBITION; MUTATIONS; INTERACTS
AB Haploinsufficient mutation in arginine and glutamine-rich protein 1 (Arglu1), a newly identified pre-mRNA splicing regulator, may be linked to neural developmental disorders associated with mental retardation and epilepsy in human patients, but the underlying causes remain elusive. Here we show that ablation of Arglu1 promotes radial glial cell (RG) detachment from the ventricular zone (VZ), leading to ectopic localized RGs in the mouse embryonic cortex. Although they remain proliferative, ectopic progenitors, as well as progenitors in the VZ, exhibit prolonged mitosis, p53 upregulation and cell apoptosis, leading to reduced neuron production, neuronal loss and microcephaly. RNA seq analysis reveals widespread changes in alternative splicing in the mutant mouse embryonic cortex, preferentially affecting genes involved in neuronal functions. Mdm2 and Mdm4 are found to be alternatively spliced at the exon 3 and exon 5 respectively, leading to absence of the p53-binding domain and nonsense-mediated mRNA decay (NMD) and thus relieve inhibition of p53. Removal of p53 largely rescues the microcephaly caused by deletion of Arglu1. Our findings provide mechanistic insights into cortical malformations of human patients with Arglu1 haploinsufficient mutation.
C1 [Yao, Fenyong; Huang, Shisheng; Liu, Jiahui; Tan, Chunhua; Xu, Mengqi; Wang, Dengkui; Huang, Maoqing; Huang, Xingxu; He, Shuijin] ShanghaiTech Univ, Sch Life Sci & Technol, 393 Middle Huaxia Rd, Shanghai 201210, Peoples R China.
   [Huang, Shisheng] Chinese Acad Sci, Inst Neurosci, Shanghai Inst Biol Sci, Shanghai, Peoples R China.
   [Huang, Shisheng] Univ Chinese Acad Sci, Beijing, Peoples R China.
   [Zhu, Yiyao] ShanghaiTech Univ, Sch Informat Sci & Technol, 393 Middle Huaxia Rd, Shanghai 201210, Peoples R China.
   [He, Shuijin] Shanghai Clin Res & Trial Ctr, Shanghai 201210, Peoples R China.
C3 ShanghaiTech University; Chinese Academy of Sciences; Chinese Academy of
   Sciences; University of Chinese Academy of Sciences, CAS; ShanghaiTech
   University
RP Huang, XX; He, SJ (corresponding author), ShanghaiTech Univ, Sch Life Sci & Technol, 393 Middle Huaxia Rd, Shanghai 201210, Peoples R China.; He, SJ (corresponding author), Shanghai Clin Res & Trial Ctr, Shanghai 201210, Peoples R China.
EM huangxx@shanghaitech.edu.cn; heshj@shanghaitech.edu.cn
RI Huang, Shisheng/GQH-6979-2022; Wang, Dengkui/AFH-7329-2022
FU We thank Dr. Shaoyu Ge (Stony Brook University, SUNY, New York) for
   helpful discussion. We thank Dr. Ke Tang (Nanchang University, Nanchang,
   China) for kindly providing Emx1-Cre knock-in and
   COUP-TFIfl/fl mice.
   [81870734]; National Natural Science Foundation of China; Shanghai
   Municipal Government; ShanghaiTech University;  [STI2030-Major
   Projects-2021ZD0202500]
FX We thank Dr. Shaoyu Ge (Stony Brook University, SUNY, New York) for
   helpful discussion. We thank Dr. Ke Tang (Nanchang University, Nanchang,
   China) for kindly providing Emx1-Cre knock-in and
   <ITALIC>COUP-TFI</ITALIC><SUP><ITALIC>fl/fl</ITALIC></SUP> mice. We also
   thank the facilities of Imaging Core and Molecular Core Facility (MICF)
   at the School of Life Science and Technology at ShanghaiTech University
   for technical supports. This work was supported by STI2030-Major
   Projects-2021ZD0202500, the National Natural Science Foundation of China
   (81870734) and the Shanghai Municipal Government and ShanghaiTech
   University.
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   Yano M, 2010, NEURON, V66, P848, DOI 10.1016/j.neuron.2010.05.007
   Yu YC, 2012, NATURE, V486, P113, DOI 10.1038/nature10958
   Zhang DX, 2011, J BIOL CHEM, V286, P17746, DOI 10.1074/jbc.M110.206029
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NR 54
TC 3
Z9 3
U1 2
U2 4
PU SPRINGERNATURE
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON, N1 9XW, ENGLAND
SN 2041-4889
J9 CELL DEATH DIS
JI Cell Death Dis.
PD AUG 23
PY 2023
VL 14
IS 8
AR 543
DI 10.1038/s41419-023-06071-w
PG 13
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA P9ML3
UT WOS:001053844900003
PM 37612280
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Wang, J
   Jin, JP
AF Wang, J
   Jin, JP
TI Primary structure and developmental acidic to basic transition of 13
   alternatively spliced mouse fast skeletal muscle troponin T isoforms
SO GENE
LA English
DT Article
DE cDNA cloning; nucleotide sequences; mRNA processing; postnatal
   development; gene expression
ID COMPLETE NUCLEOTIDE-SEQUENCE; ADULT ISOFORMS; THIN FILAMENT; RAPID
   PURIFICATION; CA2+ SENSITIVITY; ESCHERICHIA-COLI; SINGLE-GENE; 4
   VARIANTS; EXPRESSION; RAT
AB Large samples of original cDNAs encoding neonatal and adult mouse fast skeletal muscle troponin T (fTnT) have been isolated and characterized. The results demonstrate expression relationships of 8 alternatively spliced exons of the fTnT gene and reveal the primary structure of as many as 13 fTnT isoforms that diverge into acidic and basic classes due to differential mRNA splicing in the N-terminal variable region. In the C-terminal variable region encoded by the mutually exclusive exons 16 and 17, the splicing pathway and structure of exon 16 appears to be adult fTnT-specific, suggesting an adaptation to the functional demands of mature fast skeletal muscle. The cloned cDNAs were expressed in E. coli as standards to identify a high M-r to low M-r, acidic to basic fTnT isoform transition in postnatal developing skeletal muscles. Different from the developmental cardiac TnT switch generated by alternative splicing of a single exon, the fTnT isoform transition is an additive effect of alternative splicing of multiple N-terminal-coding exons, especially exons 4, 8 and fetal that are expressed at higher frequencies in the neonatal than in the adult muscle. The developmental fTnT isoform primary structure transition in both N- and C-terminal variable regions suggest a physiological importance of the apparently complex TnT isoform expression. (C) 1997 Elsevier Science B.V.
C1 UNIV CALGARY,FAC MED,DEPT MED BIOCHEM,CALGARY,AB T2N 4N1,CANADA.
C3 University of Calgary
RI Jin, Jian-Ping/AAD-1149-2020
OI Jin, JP/0000-0001-9932-1063
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NR 49
TC 69
Z9 78
U1 0
U2 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD JUL 1
PY 1997
VL 193
IS 1
BP 105
EP 114
DI 10.1016/S0378-1119(97)00100-5
PG 10
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA XM225
UT WOS:A1997XM22500014
PM 9249073
DA 2025-04-10
ER

PT J
AU Stoehr, A
   Yang, YQ
   Patel, S
   Evangelista, AM
   Aponte, A
   Wang, GH
   Liu, PC
   Boylston, J
   Kloner, PH
   Lin, YS
   Gucek, M
   Zhu, J
   Murphy, E
AF Stoehr, Andrea
   Yang, Yanqin
   Patel, Sajni
   Evangelista, Alicia M.
   Aponte, Angel
   Wang, Guanghui
   Liu, Poching
   Boylston, Jennifer
   Kloner, Philip H.
   Lin, Yongshun
   Gucek, Marjan
   Zhu, Jun
   Murphy, Elizabeth
TI Prolyl hydroxylation regulates protein degradation, synthesis, and
   splicing in human induced pluripotent stem cell-derived cardiomyocytes
SO CARDIOVASCULAR RESEARCH
LA English
DT Article
DE Prolyl hydroxylation; Hypoxia; Proteomics; Protein degradation; Splicing
ID MESSENGER-RNA TRANSLATION; HIF-ALPHA; INHIBITION; HYPOXIA; COMPLEX;
   OGFOD1; DOMAIN; 2-OXOGLUTARATE; UBIQUITYLATION; IDENTIFICATION
AB Protein hydroxylases are oxygen- and alpha-ketoglutarate-dependent enzymes that catalyse hydroxylation of amino acids such as proline, thus linking oxygen and metabolism to enzymatic activity. Prolyl hydroxylation is a dynamic post-translational modification that regulates protein stability and protein-protein interactions; however, the extent of this modification is largely uncharacterized. The goals of this study are to investigate the biological consequences of prolyl hydroxylation and to identify new targets that undergo prolyl hydroxylation in human cardiomyocytes.
   We used human induced pluripotent stem cell-derived cardiomyocytes in combination with pulse-chase amino acid labelling and proteomics to analyse the effects of prolyl hydroxylation on protein degradation and synthesis. We identified 167 proteins that exhibit differences in degradation with inhibition of prolyl hydroxylation by dimethyloxalylglycine (DMOG); 164 were stabilized. Proteins involved in RNA splicing such as serine/arginine-rich splicing factor 2 (SRSF2) and splicing factor and proline- and glutamine-rich (SFPQ) were stabilized with DMOG. DMOG also decreased protein translation of cytoskeletal and sarcomeric proteins such as alpha-cardiac actin. We searched the mass spectrometry data for proline hydroxylation and identified 134 high confidence peptides mapping to 78 unique proteins. We identified SRSF2, SFPQ, alpha-cardiac actin, and cardiac titin as prolyl hydroxylated. We identified 29 prolyl hydroxylated proteins that showed a significant difference in either protein degradation or synthesis. Additionally, we performed next-generation RNA sequencing and showed that the observed decrease in protein synthesis was not due to changes in mRNA levels. Because RNA splicing factors were prolyl hydroxylated, we investigated splicing +/- inhibition of prolyl hydroxylation and detected 369 alternative splicing events, with a preponderance of exon skipping.
   This study provides the first extensive characterization of the cardiac prolyl hydroxylome and demonstrates that inhibition of alpha-ketoglutarate hydroxylases alters protein stability, translation, and splicing.
C1 [Stoehr, Andrea; Evangelista, Alicia M.; Boylston, Jennifer; Kloner, Philip H.; Murphy, Elizabeth] NHLBI, Syst Biol Ctr, NIH, Bldg 10,Room 8N202,10 Ctr Dr, Bethesda, MD 20892 USA.
   [Yang, Yanqin; Liu, Poching; Zhu, Jun] NHLBI, DNA Sequencing & Genom Core, NIH, Bldg 10, Bethesda, MD 20892 USA.
   [Patel, Sajni; Aponte, Angel; Wang, Guanghui; Gucek, Marjan] NHLBI, Prote Core Facil, NIH, Bldg 10, Bethesda, MD 20892 USA.
   [Lin, Yongshun] NHLBI, IPS Cell Core Facil, NIH, Bldg 10, Bethesda, MD 20892 USA.
C3 National Institutes of Health (NIH) - USA; NIH National Heart Lung &
   Blood Institute (NHLBI); National Institutes of Health (NIH) - USA; NIH
   National Heart Lung & Blood Institute (NHLBI); National Institutes of
   Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI);
   National Institutes of Health (NIH) - USA; NIH National Heart Lung &
   Blood Institute (NHLBI)
RP Murphy, E (corresponding author), NHLBI, Syst Biol Ctr, NIH, Bldg 10,Room 8N202,10 Ctr Dr, Bethesda, MD 20892 USA.
EM murphy1@nhlbi.nih.gov
RI Stoehr, Andrea/F-7452-2018
OI Stoehr, Andrea/0000-0003-3573-1818
FU NIH-NHLBI Intramural Program
FX This work was supported by the NIH-NHLBI Intramural Program.
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NR 49
TC 27
Z9 32
U1 0
U2 8
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0008-6363
EI 1755-3245
J9 CARDIOVASC RES
JI Cardiovasc. Res.
PD JUN 1
PY 2016
VL 110
IS 3
BP 346
EP 358
DI 10.1093/cvr/cvw081
PG 13
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA DP4CJ
UT WOS:000378442700010
PM 27095734
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Khan, MAF
   Reckman, YJ
   Aufiero, S
   van den Hoogenhof, MMG
   van der Made, I
   Beqqali, A
   Koolbergen, DR
   Rasmussen, TB
   van der Velden, J
   Creemers, EE
   Pinto, YM
AF Khan, Mohsin A. F.
   Reckman, Yolan J.
   Aufiero, Simona
   van den Hoogenhof, Maarten M. G.
   van der Made, Ingeborg
   Beqqali, Abdelaziz
   Koolbergen, Dave R.
   Rasmussen, Torsten B.
   van der Velden, Jolanda
   Creemers, Esther E.
   Pinto, Yigal M.
TI RBM20 Regulates Circular RNA Production From the Titin Gene
SO CIRCULATION RESEARCH
LA English
DT Article
DE alternative splicing; cardiovascular system; dilated cardiomyopathy;
   hypertrophic cardiomyopathy; mutation
ID BIOGENESIS; IDENTIFICATION
AB Rationale: RNA-binding motif protein 20 (RBM20) is essential for normal splicing of many cardiac genes, and loss of RBM20 causes dilated cardiomyopathy. Given its role in splicing, we hypothesized an important role for RBM20 in forming circular RNAs (circRNAs), a novel class of noncoding RNA molecules.
   Objective: To establish the role of RBM20 in the formation of circRNAs in the heart.
   Methods and Results: Here, we performed circRNA profiling on ribosomal depleted RNA from human hearts and identified the expression of thousands of circRNAs, with some of them regulated in disease. Interestingly, we identified 80 circRNAs to be expressed from the titin gene, a gene that is known to undergo highly complex alternative splicing. We show that some of these circRNAs are dynamically regulated in dilated cardiomyopathy but not in hypertrophic cardiomyopathy. We generated RBM20-null mice and show that they completely lack these titin circRNAs. In addition, in a cardiac sample from an RBM20 mutation carrier, titin circRNA production was severely altered. Interestingly, the loss of RBM20 caused only a specific subset of titin circRNAs to be lost. These circRNAs originated from the RBM20-regulated I-band region of the titin transcript.
   Conclusions: We show that RBM20 is crucial for the formation of a subset of circRNAs that originate from the I-band of the titin gene. We propose that RBM20, by excluding specific exons from the pre-mRNA, provides the substrate to form this class of RBM20-dependent circRNAs.
C1 [Khan, Mohsin A. F.; Reckman, Yolan J.; Aufiero, Simona; van den Hoogenhof, Maarten M. G.; van der Made, Ingeborg; Beqqali, Abdelaziz; Creemers, Esther E.; Pinto, Yigal M.] Acad Med Ctr, Dept Expt Cardiol, K2-104-2,Meibergdreef 15, NL-1105 AZ Amsterdam, Netherlands.
   [Khan, Mohsin A. F.; Aufiero, Simona] Acad Med Ctr, Dept Clin Epidemiol Biostat & Bioinformat, Amsterdam, Netherlands.
   [Koolbergen, Dave R.] Acad Med Ctr, Dept Cardiothorac Surg, Amsterdam, Netherlands.
   [Rasmussen, Torsten B.] Aarhus Univ Hosp, Dept Cardiol, Aarhus, Denmark.
   [van der Velden, Jolanda] Vrije Univ Amsterdam, Med Ctr, Dept Physiol, Amsterdam, Netherlands.
C3 University of Amsterdam; Academic Medical Center Amsterdam; University
   of Amsterdam; Academic Medical Center Amsterdam; University of
   Amsterdam; Academic Medical Center Amsterdam; Aarhus University; Vrije
   Universiteit Amsterdam
RP Creemers, EE; Pinto, YM (corresponding author), Acad Med Ctr, Dept Expt Cardiol, K2-104-2,Meibergdreef 15, NL-1105 AZ Amsterdam, Netherlands.
EM e.e.creemers@amc.uva.nl; y.pinto@amc.uva.nl
RI van der Velden, J/D-1925-2016; Beqqali, Abdelaziz/F-8568-2013
OI Reckman, Yolan/0000-0002-8327-5688; Koolbergen,
   David/0000-0002-1297-5716; Khan, Mohsin/0000-0001-8028-2500; Creemers,
   Esther/0000-0002-9001-3854; Beqqali, Abdelaziz/0000-0003-1390-5821;
   Aufiero, Simona/0000-0003-0782-3985; van den Hoogenhof,
   Maarten/0000-0003-2768-3457; Rasmussen, Torsten
   Bloch/0000-0003-1468-7248; van der Velden, Jolanda/0000-0001-5224-5788
FU Netherlands Organization for Scientific Research [NWO-836.12.002,
   NWO-821.02.021]; Netherlands Cardiovascular Research Initiative
   [CVON-ARENA-2011-11]
FX We thank Aeilko H. Zwinderman for valuable advice on bioinformatics and
   Anke J. Tijsen for scientific discussions. This work was supported by
   grants from the Netherlands Organization for Scientific Research
   (NWO-836.12.002 and NWO-821.02.021) and the Netherlands Cardiovascular
   Research Initiative (grants CVON-ARENA-2011-11).
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NR 22
TC 220
Z9 241
U1 0
U2 40
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD OCT 14
PY 2016
VL 119
IS 9
BP 996
EP 1003
DI 10.1161/CIRCRESAHA.116.309568
PG 8
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA EA0XW
UT WOS:000386313900012
PM 27531932
OA Bronze
DA 2025-04-10
ER

PT J
AU Bogaev, RC
   Jia, LG
   Kobayashi, YM
   Palmer, CJ
   Mounsey, JP
   Moorman, JR
   Jones, LR
   Tucker, AL
AF Bogaev, RC
   Jia, LG
   Kobayashi, YM
   Palmer, CJ
   Mounsey, JP
   Moorman, JR
   Jones, LR
   Tucker, AL
TI Gene structure and expression of phospholemman in mouse
SO GENE
LA English
DT Article
DE chloride channel; channel regulator; taurine; library screening;
   northern blotting; alternative splicing
ID PROTEIN-KINASE-C; CARDIAC SARCOLEMMAL VESICLES; XENOPUS-OOCYTES; CHANNEL
   MOLECULES; GAMMA-SUBUNIT; INTACT MYOCARDIUM; CHLORIDE CURRENT; ION
   CURRENTS; HYPERPOLARIZATION; SUBSTRATE
AB Phospholemman (PLM) is a small transmembrane cardiac protein that is the major sarcolemmal substrate for phosphorylation in response to adrenergic stimulation. PLM likely plays a role in muscle contractility and cell volume regulation through its function as a channel or a channel regulator. We are the first to describe the structure of the PLM gene and to demonstrate PLM cDNA splice variants. We cloned the murine PLM cDNA and used it as a probe to isolate the gene from a 129/SvJ genomic library. The gene contains seven introns and eight exons. The coding sequence is interrupted by five introns; the 5 ' untranslated region by two. Using rapid amplification of 5 ' cDNA ends we identified transcription start sites and four splice variants of the 5 ' untranslated domain. There was no TATA box or CAAT box in the putative promoter regions. The gene has several stretches of dinucleotide repeats. The 3 ' untranslated domains of mouse PLM cDNA clones show sequence differences not accounted for by alternative splicing. Mouse PLM shares 93, 83 and 80% amino acid identity with rat, dog, and human PLMs, respectively. Tissue expression of murine PLM parallels that in other species, being highest in heart, skeletal muscle, and liver. (C) 2001 Elsevier Science B.V. All rights reserved.
C1 Univ Virginia, Hlth Sci Ctr, Dept Internal Med, Div Cardiovasc, Charlottesville, VA 22908 USA.
   Univ Virginia, Hlth Sci Ctr, Dept Mol Physiol & Biol Phys, Charlottesville, VA 22908 USA.
   Univ Virginia, Hlth Sci Ctr, Cardiovasc Res Ctr, Charlottesville, VA 22908 USA.
   Indiana Univ, Sch Med, Krannert Inst Cardiol, Dept Med, Indianapolis, IN 46202 USA.
C3 University of Virginia; University of Virginia; University of Virginia;
   Indiana University System; Indiana University Indianapolis
RP Univ Virginia, Hlth Sci Ctr, Dept Internal Med, Div Cardiovasc, Box 801395 Room 6012,MR4 Bldg, Charlottesville, VA 22908 USA.
EM alt8t@virginia.edu
RI Moorman, J/ABG-9946-2020
FU NHLBI NIH HHS [K08-HL03268-05] Funding Source: Medline
CR ATTALI B, 1995, P NATL ACAD SCI USA, V92, P6092, DOI 10.1073/pnas.92.13.6092
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NR 30
TC 21
Z9 25
U1 0
U2 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD JUN 13
PY 2001
VL 271
IS 1
BP 69
EP 79
DI 10.1016/S0378-1119(01)00497-8
PG 11
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 460VL
UT WOS:000170329200008
PM 11410367
DA 2025-04-10
ER

PT J
AU de Groot, NE
   van den Hoogenhof, MMG
   Najafi, A
   van der Made, 
   van derVelden, J
   Beqqali, A
   Pinto, YM
   Creemers, EE
AF de Groot, N. E.
   van den Hoogenhof, M. M. G.
   Najafi, A.
   van der Made, I
   van derVelden, J.
   Beqqali, A.
   Pinto, Y. M.
   Creemers, E. E.
TI Heterozygous loss of Rbm24 in the adult mouse heart increases sarcomere
   slack length but does not affect function
SO SCIENTIFIC REPORTS
LA English
DT Article
ID SPLICING REGULATION; CARDIOMYOPATHY; MUTATIONS; REGULATOR; INSIGHTS;
   TARGETS; GENE
AB RNA-binding proteins are key regulators of post-transcriptional processes such as alternative splicing and mRNA stabilization. Rbm24 acts as a regulator of alternative splicing in heart and skeletal muscle, and is essential for sarcomere assembly. Homozygous inactivation of Rbm24 in mice disrupts cardiac development and results in embryonic lethality around E12.5. In the present study, we generated somatic Rbm24 knockout (KO) mice and investigated the effects of reduced levels of Rbm24 in the adult heart. Due to the embryonic lethality of Rbm24 KO mice, we examined cardiac structure and function in adult Rbm24 heterozygotes (HETs). Rbm24 protein expression was 40% downregulated in HET hearts compared to WT hearts. Force measurements on isolated membrane-permeabilized myocytes showed increased sarcomere slack length and lower myofilament passive stiffness in adult Rbm24 HET compared to wildtype cardiomyocytes. As a result of the differences in sarcomere slack length, the relations between force development and sarcomere length differed between WT and Rbm24 HET hearts. No differences in sarcomere structure and titin isoform composition were observed. Likewise, in vivo cardiac function and myocardial structure was unaltered in Rbm24 HET mice compared to WT, at baseline and upon pressure overload after transverse aortic constriction. In conclusion, we generated a somatic Rbm24 KO model and recapitulated the previously reported embryonic phenotype. In adult Rbm24 HET cardiomyocytes we observed increased sarcomere slack length, but no difference in sarcomere structure and cardiac function.
C1 [de Groot, N. E.; van den Hoogenhof, M. M. G.; van der Made, I; Beqqali, A.; Pinto, Y. M.; Creemers, E. E.] Amsterdam UMC, Amsterdam Cardiovasc Sci, Locat AMC, Dept Expt Cardiol, Amsterdam, Netherlands.
   [Najafi, A.; van derVelden, J.] Amsterdam UMC, Locat VUmc, Dept Physiol, Amsterdam Cardiovasc Sci, Amsterdam, Netherlands.
C3 University of Amsterdam; University of Amsterdam
RP Creemers, EE (corresponding author), Amsterdam UMC, Amsterdam Cardiovasc Sci, Locat AMC, Dept Expt Cardiol, Amsterdam, Netherlands.
EM e.e.creemers@amc.uva.nl
RI van der Velden, J/D-1925-2016; Beqqali, Abdelaziz/F-8568-2013
OI , yigal/0000-0002-2836-571X; van den Hoogenhof,
   Maarten/0000-0003-2768-3457; van der Velden,
   Jolanda/0000-0001-5224-5788; Creemers, Esther/0000-0002-9001-3854;
   Beqqali, Abdelaziz/0000-0003-1390-5821
FU AMC PhD Fellowship (MvH); Netherlands Organization for Scientific
   Research [NWO-836.12.002, NWO-821.02.021]; Netherlands Cardiovascular
   Research Initiative [CVON-ARENA-2011-11]
FX The authors are grateful to Wies Lommen for excellent technical
   assistance. This work was supported by an AMC PhD Fellowship (MvH) and
   by grants from the Netherlands Organization for Scientific Research
   (NWO-836.12.002 and NWO-821.02.021) (EEC, YMP) and the Netherlands
   Cardiovascular Research Initiative (CVON-ARENA-2011-11) (YMP). The
   funders had no role in study design, data collection and analysis,
   decision to publish, or preparation of the manuscript.
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NR 35
TC 3
Z9 3
U1 0
U2 2
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD MAY 6
PY 2020
VL 10
IS 1
AR 7687
DI 10.1038/s41598-020-64667-0
PG 11
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA LP0QJ
UT WOS:000534026400006
PM 32376900
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Hiraiwa, M
   Liu, J
   Lu, AG
   Wang, CY
   Misasi, R
   Yamauchi, T
   Hozumi, I
   Inuzuka, T
   O'Brien, JS
AF Hiraiwa, M
   Liu, J
   Lu, AG
   Wang, CY
   Misasi, R
   Yamauchi, T
   Hozumi, I
   Inuzuka, T
   O'Brien, JS
TI Regulation of gene expression in response to brain injury: Enhanced
   expression and alternative splicing of rat prosaposin (SGP-1) mRNA in
   injured brain
SO JOURNAL OF NEUROTRAUMA
LA English
DT Article
DE alternative splicing; cerebral ischemia; gene regulation; neurotrauma;
   neurotrophic factor; prosaposin; sphingolipid activator protein
ID SPHINGOLIPID ACTIVATOR PROTEINS; FOCAL CEREBRAL-ISCHEMIA;
   NERVOUS-SYSTEM; SCHWANN-CELLS; METACHROMATIC LEUKODYSTROPHY;
   NEUROTROPHIC FACTOR; STAB WOUNDS; IN-VIVO; DEFICIENCY; MUTATION
AB Prosaposin, the precursor of saposins or saps, is an injury-repair protein that acts on both neurons and glia. Previous studies identified the prosaposin gene as one of differentially expressed genes following nerve injury. In the present study, we investigated expression of prosaposin mRNA in injured brain utilizing rat models of focal cerebral ischemia and cortical stab wound in order to explore the significance of prosaposin in nerve injury. In ischemic brain, the level of prosaposin mRNA was elevated greater than 400% over controls within 5 days after ischemic insults. Importantly, this induction was accompanied by a 9-base splicing consistent with the alternative Exon-8 splicing of human prosaposin mRNA. In normal brain, two prosaposin mRNA species with and without the 9-base insertion were expressed at a ratio of 85:15; however, this equilibrium reverted to 5:95 following ischemic injury. Similar inductions were observed in stab wound brains. Immunohistochemical staining and in situ hybridization demonstrated an enhanced signal distribution of prosaposin mRNA and injury-induced prosaposin protein around the lesion. The data suggest the expression and processing of prosaposin mRNA may be crucially regulated not only for cerebral homeostasis but also during nerve regenerative and degenerative processes.
C1 Univ Calif San Diego, Sch Med, Dept Neurosci, Ctr Mol Genet, La Jolla, CA 92093 USA.
   Univ Roma La Sapienza, Dipartimento Med Sperimentale & Patol, Rome, Italy.
   Gifu Univ, Dept Neurol & Geriatr, Gifu, Japan.
C3 University of California System; University of California San Diego;
   Sapienza University Rome; Gifu University
RP Hiraiwa, M (corresponding author), Univ Calif San Diego, Sch Med, Dept Neurosci, Ctr Mol Genet, 9500 Gilman Dr,CMG-115, La Jolla, CA 92093 USA.
OI Hozumi, Isao/0000-0003-0984-6291
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NR 56
TC 32
Z9 36
U1 0
U2 8
PU MARY ANN LIEBERT INC PUBL
PI LARCHMONT
PA 2 MADISON AVENUE, LARCHMONT, NY 10538 USA
SN 0897-7151
J9 J NEUROTRAUM
JI J. Neurotrauma
PD AUG
PY 2003
VL 20
IS 8
BP 755
EP 765
DI 10.1089/089771503767869980
PG 11
WC Critical Care Medicine; Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC General & Internal Medicine; Neurosciences & Neurology
GA 712BU
UT WOS:000184777000006
PM 12965054
DA 2025-04-10
ER

PT J
AU Shen, H
   Illges, H
   Reuter, A
   Stuermer, CAO
AF Shen, H
   Illges, H
   Reuter, A
   Stuermer, CAO
TI Cloning, expression, and alternative splicing of neogenin1 in zebrafish
SO MECHANISMS OF DEVELOPMENT
LA English
DT Article
DE zebrafish; neogenin; alternative splicing; expression; brain development
ID DCC; AXONOGENESIS; MOLECULE; EMBRYOS; PROTEIN; BRAIN; GENE
AB Caenorhabditis elegans UNC-40, Drosophila Frazzled, and vertebrate Neogenin and DCC constitute a subgroup of the immunoglobulin superfamily (IgSF). They possess four immunoglobulin-like domains and six fibronectin-type Ill repeats at the extracellular region, a single transmembrane region, and a similar to300 amino-acid intracellular region. UNC-40, Frazzled and DCC can function in axon guidance as the receptor of Netrin (Cell Mol. Life Sci. 56 (1999) 62; Curr. Opin. Cell Biol. 10 (1998) 609). Neogenin binds to Netrin-1 with the same affinity as DCC in vitro (Cell 87 (1996) 175), and is expressed by neurons as they project axons (J. Cell Biol. 127 (1994) 2009), suggesting that it is also a DCC-like Netrin receptor. A zebrafish homologue of DCC (zDCC) is reported recently (Mech. Dev. 109 (2001) 105), but so far there is no report of zebrafish Neogenin. To elucidate a possible neural function of vertebrate Neogenin, we cloned and characterized a zebrafish homologue of neogenin, zneol, and identified four alternative splice sites within it. In the adult, despite broad tissue distribution, our reverse transcription polymerase chain reaction and Northern analyses demonstrated the dominant expression of zneol mRNA in brain. We detected zneol mRNA in the embryos from 10 hpf onward and revealed its spatiotemporally regulated expression pattern in both neuronal and non-neuronal tissues by in situ hybridization. Our data showed that during early brain development, zneol mRNA was not only present in the proliferative ventricular zones but also in the domains of several first postmitotic neuron clusters when they extended axons. Alternative splicing generates several isoforms of zneol. Most of them are developmentally regulated, showing distinct distribution in brain and other tissues. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.
C1 Univ Konstanz, Dept Biol, D-78457 Constance, Germany.
C3 University of Konstanz
RP Stuermer, CAO (corresponding author), Univ Konstanz, Dept Biol, POB M662, D-78457 Constance, Germany.
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NR 9
TC 16
Z9 22
U1 0
U2 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0925-4773
J9 MECH DEVELOP
JI Mech. Dev.
PD OCT
PY 2002
VL 118
IS 1-2
BP 219
EP 223
AR PII S0925-4773(02)00255-1
DI 10.1016/S0925-4773(02)00255-1
PG 5
WC Developmental Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Developmental Biology
GA 605NC
UT WOS:000178683100027
PM 12351191
DA 2025-04-10
ER

PT J
AU Cardani, R
   Giagnacovo, M
   Rossi, G
   Renna, LV
   Bugiardini, E
   Pizzamiglio, C
   Botta, A
   Meola, G
AF Cardani, Rosanna
   Giagnacovo, Marzia
   Rossi, Giulia
   Renna, Laura V.
   Bugiardini, Enrico
   Pizzamiglio, Chiara
   Botta, Annalisa
   Meola, Giovanni
TI Progression of muscle histopathology but not of spliceopathy in myotonic
   dystrophy type 2
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE Myotonic dystrophy type 2; Ribonuclear inclusions; Disease progression;
   Muscle histology; Alternative splicing
ID SKELETAL-MUSCLE; CTG REPEAT; CHLORIDE CHANNEL; (CCTG)N MUTATION;
   MESSENGER-RNA; DM2 PATIENTS; EXPANSION; ZNF9; TRANSLATION; EXPRESSION
AB Myotonic dystrophy type 2 (DM2)-is an autosomal dominant progressive disease involving skeletal and cardiac muscle and-brain. It is caused by a tetranucleotide repeat within the first intron of the CNBP gene that leads to an alteration of the alternative splicing of several genes. To understand the molecular mechanisms that play a role in DM2 progression, the evolution of skeletal muscle histopathology and biomolecular findings in successive biopsies have been studied. Biceps brachii biopsies from 5 DM2 patients who underwent two successive biopsies at different years of age have been used. Muscle histopathology has been assessed on sections immunostained with fast or slow myosin. FISH in combination with MBNL1-immunofluorescence has been performed to evaluate ribonuclear inclusion and MBNL1 foci dimensions in myonuclei. Gene and protein expression and alteration of alternative splicing of several genes have been evaluated over time. All DM2 patients examined show a worsening of muscle histopathology and an increase of foci dimensions over time. The progressive worsening of myotonia in DM2 patients may be due to the decrease of CLCNI mRNA observed in all patients examined. However, a worsening of alternative splicing alterations has not been evidenced over time. The data obtained in this study confirm that DM2 is a slow progression disease since histological and biomolecular alterations observed in skeletal muscle are minimal even after 10-year interval. The data indicate that muscle morphological alterations evolve more rapidly over time than the molecular changes thus indicating that muscle biopsy is a more sensitive tool than biomolecular markers to assess disease progression at muscle level. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Cardani, Rosanna; Meola, Giovanni] IRCCS Policlin San Donato, Lab Muscle Histopathol & Mol Biol, Milan, Italy.
   [Giagnacovo, Marzia] Univ Pavia, Dept Biol & Biotechnol, I-27100 Pavia, Italy.
   [Rossi, Giulia; Botta, Annalisa] Univ Roma Tor Vergata, Dept Biomed & Prevent, Rome, Italy.
   [Renna, Laura V.] Univ Milan, Dept Biosci, I-20097 Milan, Italy.
   [Meola, Giovanni] Univ Milan, Dept Neurol, IRCCS Policlin San Donato, I-20097 Milan, Italy.
C3 IRCCS Policlinico San Donato; University of Pavia; University of Rome
   Tor Vergata; University of Milan; University of Milan; IRCCS Policlinico
   San Donato
RP Meola, G (corresponding author), Univ Milan, Dept Neurol, IRCCS Policlin San Donato, Piazza E Malan 1, I-20097 Milan, Italy.
EM giovanni.meola@unimi.it
RI cardani, rosanna/ABH-6525-2020; botta, annalisa/AAB-8680-2019; Renna,
   Laura/ABH-7699-2020; Pizzamiglio, Chiara/AHB-2910-2022; meola,
   giovanni/K-4775-2016
OI Renna, Laura Valentina/0000-0003-1316-7478; cardani,
   rosanna/0000-0001-8858-4327; meola, giovanni/0000-0001-6396-717X; BOTTA,
   ANNALISA/0000-0003-4031-5624; Bugiardini, Enrico/0000-0002-9709-6699;
   Pizzamiglio, Chiara/0000-0001-5519-0313
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NR 41
TC 13
Z9 15
U1 0
U2 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
EI 1873-2364
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD DEC
PY 2014
VL 24
IS 12
BP 1042
EP 1053
DI 10.1016/j.nmd.2014.06.435
PG 12
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA AY7XW
UT WOS:000347770100003
PM 25139674
OA Green Published
DA 2025-04-10
ER

PT J
AU Fang, XF
   Corrales, J
   Thornton, C
   Clerk, T
   Scheffler, BE
   Willett, KL
AF Fang, Xiefan
   Corrales, Jone
   Thornton, Cammi
   Clerk, Tracy
   Scheffler, Brian E.
   Willett, Kristine L.
TI Transcriptomic Changes in Zebrafish Embryos and Larvae Following
   Benzo[a]pyrene Exposure
SO TOXICOLOGICAL SCIENCES
LA English
DT Article
DE zebrafish; benzo[a]pyrene; development; RNA-Seq; gene expression;
   alternative splicing
ID POLYCYCLIC AROMATIC-HYDROCARBONS; MESSENGER-RNA EXPRESSION; IN-UTERO
   EXPOSURE; DNA METHYLATION; FUNDULUS-HETEROCLITUS; PRENATAL EXPOSURE;
   BENZO(A)PYRENE; MICE; RESPONSES; CELLS
AB Benzo[a]pyrene (BaP) is an environmentally relevant carcinogenic and endocrine disrupting compound that causes immediate, long-term, and multigenerational health deficits in mammals and fish. Previously, we found that BaP alters DNA methylation patterns in developing zebrafish, which may affect gene expression. Herein, we performed a genome-wide transcriptional analysis and discovered differential gene expression and splicing in developing zebrafish. Adult zebrafish were exposed to control or 42.0 +/- 1.9 mu g/l BaP for 7 days. Eggs were collected and raised in control conditions or continuously exposed to BaP until 3.3 and 96h post-fertilization (hpf). RNA sequencing (RNA-Seq) was conducted on zebrafish embryos and larvae. Data were analyzed to identify differentially expressed (DE) genes (changed at the gene or transcript variant level) and genes with differential exon usage (DEU; changed at the exon level). At 3.3 hpf, BaP exposure resulted in 8 DE genes and 51 DEU genes. At 96 hpf, BaP exposure altered expression in 1153 DE genes and 159 DEU genes. Functional ontology analysis by Ingenuity Pathway Analysis revealed that many disease pathways, including organismal death, growth failure, abnormal morphology of embryonic tissue, congenital heart disease, and adverse neuritogenesis, were significantly enriched for the DE and DEU genes, providing novel insights on the mechanisms of action of BaP-induced developmental toxicities. Collectively, we discovered substantial transcriptomic changes at the gene, transcript variant, and exon levels in developing zebrafish after early life BaP waterborne exposure, and these changes may lead to long-term adverse physiological consequences.
C1 [Fang, Xiefan] Univ Florida, Dept Pediat, Gainesville, FL 32610 USA.
   [Corrales, Jone; Thornton, Cammi; Willett, Kristine L.] Univ Mississippi, Dept BioMol Sci, University, MS 38677 USA.
   [Clerk, Tracy] Alcorn State Univ, Ctr Biotechnol & Genom, Lorman, MS 39096 USA.
   [Scheffler, Brian E.] ARS, Genom & Bioinformat Res Unit, USDA, Stoneville, MS 38776 USA.
C3 State University System of Florida; University of Florida; University of
   Mississippi; Alcorn State University; United States Department of
   Agriculture (USDA)
RP Willett, KL (corresponding author), Univ Mississippi, Dept BioMol Sci, Box 1848,305 Faser Hall, University, MS 38677 USA.
EM kwillett@olemiss.edu
OI Scheffler, Brian/0000-0003-1968-8952
FU National Institute of Environmental Health Sciences of the National
   Institutes of Health [R21ES019940, R03ES018962]
FX National Institute of Environmental Health Sciences of the National
   Institutes of Health [grant numbers R21ES019940 and R03ES018962].
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NR 58
TC 36
Z9 43
U1 3
U2 64
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1096-6080
EI 1096-0929
J9 TOXICOL SCI
JI Toxicol. Sci.
PD AUG
PY 2015
VL 146
IS 2
BP 395
EP 411
DI 10.1093/toxsci/kfv105
PG 17
WC Toxicology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Toxicology
GA CP1IU
UT WOS:000359630300019
PM 26001963
OA Bronze, Green Published
DA 2025-04-10
ER

PT J
AU Bachinski, LL
   Sirito, M
   Böhme, M
   Baggerly, KA
   Udd, B
   Krahe, R
AF Bachinski, Linda L.
   Sirito, Mario
   Boehme, Maria
   Baggerly, Keith A.
   Udd, Bjarne
   Krahe, Ralf
TI ALTERED MEF2 ISOFORMS IN MYOTONIC DYSTROPHY AND OTHER
   NEUROMUSCULAR DISORDERS
SO MUSCLE & NERVE
LA English
DT Article
DE dysregulation; MADS-domain transcription enhancer factor 2; MEF2;
   myotonic dystrophy; splicing
ID TRANSCRIPTION FACTOR; DILATED CARDIOMYOPATHY; MUSCLE DEVELOPMENT;
   GENE-EXPRESSION; TRANSGENIC MICE; CTG REPEAT; RNA; EXPANSION; MUTATION;
   CELLS
AB Because of their central role in muscle development and maintenance, MEF2 family members represent excellent candidate effectors of the muscle pathology in myotonic dystrophy (DM). We investigated the expression and alternative splicing of all four MEF2 genes in muscle from neuromuscular disorder (NMD) patients, including DM1 and DM2. We observed MEF2A and MEF2C overexpression in all NMD muscle, including 12 MEF2-interacting genes. Exon 4 and 5 usage in MEF2A and MEF2C was different between DM and normal muscle, with DM showing the embryonic isoform. Similar splicing differences were observed in other NMD muscle. For MEF2C, missplicing was more pronounced in DM than in other dystrophies. Our data confirm dysregulation of MEF2A and MEF2C expression and splicing in several NMD, including DM. Our findings demonstrate that aberrant splicing in NMD is independent from expression of mutant repeats, and suggests that some aberrant splicing, even in DM, may be compensatory rather than primary. Muscle Nerve 42: 856-863,2010
C1 [Bachinski, Linda L.; Sirito, Mario; Boehme, Maria; Krahe, Ralf] Univ Texas Houston, MD Anderson Canc Ctr, Dept Genet, Unit 1010, Houston, TX 77030 USA.
   [Baggerly, Keith A.] Univ Texas Houston, MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USA.
   [Udd, Bjarne] Univ Helsinki, Sch Med, Folkhalsan Inst Genet, Vasa Cent Hosp,Dept Med Genet, Helsinki, Finland.
   [Udd, Bjarne] Tampere Univ Hosp, Helsinki, Finland.
C3 University of Texas System; UTMD Anderson Cancer Center; University of
   Texas Health Science Center Houston; University of Texas System; UTMD
   Anderson Cancer Center; University of Texas Health Science Center
   Houston; Vaasa Central Hospital; University of Helsinki; Tampere
   University; Tampere University Hospital
RP Krahe, R (corresponding author), Univ Texas Houston, MD Anderson Canc Ctr, Dept Genet, Unit 1010, 1515 Holcombe Blvd, Houston, TX 77030 USA.
EM rkrahe@mdanderson.org
RI Udd, Bjarne/JBE-3483-2023
OI Krahe, Ralf/0000-0002-7810-2539
FU University of Texas M.D. Anderson Cancer Center's University Cancer
   Foundation; NIH [AR48171]; Muscular Dystrophy Association USA; Kleberg
   Foundation; Folkhalsan Research Foundation; Liv and Halsa Foundation;
   Vasa Central Hospital District; Kung Gustav V Adolfs och Drottning
   Victorias Minnesfond Foundation
FX M.B. was a scholar of the Friedrich-Alexander University
   Erlangen-Nuremberg/University of Texas M.D. Anderson Cancer Center
   Undergraduate Research Exchange Program and was supported by the
   University of Texas M.D. Anderson Cancer Center's University Cancer
   Foundation. R.K. was supported by grants from the NIH (AR48171),
   Muscular Dystrophy Association USA, and the Kleberg Foundation. B.U. was
   supported by funding from the Folkhalsan Research Foundation, and grants
   from the Liv and Halsa Foundation, the Vasa Central Hospital District
   medical research funds, and the Kung Gustav V Adolfs och Drottning
   Victorias Minnesfond Foundation. This study was accomplished through the
   active collaboration and sharing of patient samples within the European
   Neuromuscular Centre (ENMC) Consortium on DM2 and Other Myotonic
   Dystrophies by the following members: Josep Gamez, Jerry Mendell,
   Guillaume Bassez, Bruno Eymard, and Tetsuo Ashizawa. The authors are
   grateful to the participating patients for their cooperation. We also
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   the generation of microarray expression data and Tamer Ahmed for the
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NR 43
TC 45
Z9 53
U1 1
U2 6
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0148-639X
EI 1097-4598
J9 MUSCLE NERVE
JI Muscle Nerve
PD DEC
PY 2010
VL 42
IS 6
BP 856
EP 863
DI 10.1002/mus.21789
PG 8
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 692RI
UT WOS:000285172400003
PM 21104860
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Jearawiriyapaisarn, N
   Moulton, HM
   Sazani, P
   Kole, R
   Willis, MS
AF Jearawiriyapaisarn, Natee
   Moulton, Hong M.
   Sazani, Peter
   Kole, Ryszard
   Willis, Monte S.
TI Long-term improvement in mdx cardiomyopathy after therapy with
   peptide-conjugated morpholino oligomers
SO CARDIOVASCULAR RESEARCH
LA English
DT Article
DE Duchenne muscular dystrophy; Morpholino; Oligomers; Cardiomyopathy;
   Therapy; Exon skipping; Alternative RNA splicing
ID DUCHENNE MUSCULAR-DYSTROPHY; MICRODYSTROPHIN GENE-THERAPY; SYSTEMIC
   DELIVERY; MOUSE; EXON; EXPRESSION; ABNORMALITIES; DEFICIENT; EVOLUTION;
   MICE
AB Aims The cardiomyopathy found in Duchenne muscular dystrophy (DMD) is responsible for death due to heart failure in similar to 30% of patients and additionally contributes to many DMD morbidities. Strategies to bypass DMD-causing mutations to allow an increase in body-wide dystrophin have proved promising, but increasing cardiac dystrophin continues to be challenging. The purpose of this study was to determine if therapeutic restoration of cardiac dystrophin improved the significant cardiac hypertrophy and diastolic dysfunction identified in X-linked muscular dystrophy (mdx) dystrophin-null mouse due to a truncation mutation over time after treatment.
   Methods and results Mice lacking dystrophin due to a truncation mutation (mdx) were given an arginine-rich, cell-penetrating, peptide-conjugated phosphorodiamidate morpholino oligomer (PPMO) that delivered a splice-switching oligonucleotide-mediated exon skipping therapy to restore dystrophin in mdx mice before the development of detectable cardiomyopathy. PPMO successfully restored cardiac dystrophin expression, preserved cardiac sarcolemma integrity, and prevented the development of cardiac pathology that develops in mdx-null mice over time. By echocardiography and Doppler analysis of the mitral valve, we identified that PPMO treatment of mdx mice prevented the cardiac hypertrophy and diastolic dysfunction identified in sham-treated, age-matched mdx mice, characteristic of DMD patients early in the disease process, in as little as 5-6 weeks after the initiation of treatment. Surprisingly, despite the short-term replacement of cardiac dystrophin (<1% present after 12 weeks by immunodetection), PPMO therapy also provided a durable cardiac improvement in cardiac hypertrophy and diastolic dysfunction for up to 7 months after the initiation of treatment.
   Conclusion These results demonstrate for the first time that PPMO-mediated exon skipping therapy early in the course of DMD may effectively prevent or slow down associated cardiac hypertrophy and diastolic dysfunction with significant long-term impact.
C1 [Willis, Monte S.] Univ N Carolina, McAllister Heart Inst, Chapel Hill, NC 27514 USA.
   [Jearawiriyapaisarn, Natee; Kole, Ryszard] Univ N Carolina, Dept Pharmacol, Chapel Hill, NC USA.
   [Jearawiriyapaisarn, Natee; Kole, Ryszard] Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA.
   [Jearawiriyapaisarn, Natee] Mahidol Univ, Thalassemia Res Ctr, Bangkok 10700, Thailand.
   [Jearawiriyapaisarn, Natee] Mahidol Univ, Inst Mol Biol & Genet, Bangkok 10700, Thailand.
   [Moulton, Hong M.; Sazani, Peter; Kole, Ryszard] AVI BioPharma Inc, Corvallis, OR USA.
   [Willis, Monte S.] Univ N Carolina, Dept Pathol & Lab Med, Chapel Hill, NC USA.
C3 University of North Carolina; University of North Carolina Chapel Hill;
   University of North Carolina; University of North Carolina Chapel Hill;
   University of North Carolina; University of North Carolina Chapel Hill;
   Mahidol University; Mahidol University; Sarepta Therapeutics, Inc.;
   University of North Carolina; University of North Carolina Chapel Hill
RP Willis, MS (corresponding author), Univ N Carolina, McAllister Heart Inst, 8200 Med Biomol Res Bldg,103 Mason Farm Rd, Chapel Hill, NC 27514 USA.
EM monte_willis@med.unc.edu
RI Willis, Monte/J-9994-2015
OI /0000-0002-0769-5816
FU Thailand Research; NIH [P01-GM059299]; Children's Cardiomyopathy
   Foundation; AHA Scientist Development
FX N.J. was partially supported by the Royal Golden Jubilee (RGJ)
   scholarship from the Thailand Research Fund. This work was supported by
   NIH P01-GM059299 (to R.K.), the Children's Cardiomyopathy Foundation
   Grant (to M.S.W.), and AHA Scientist Development Grant (to M. S. W.).
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NR 45
TC 75
Z9 101
U1 0
U2 6
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0008-6363
EI 1755-3245
J9 CARDIOVASC RES
JI Cardiovasc. Res.
PD FEB 1
PY 2010
VL 85
IS 3
BP 444
EP 453
DI 10.1093/cvr/cvp335
PG 10
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 542LD
UT WOS:000273493900008
PM 19815563
OA Green Published
DA 2025-04-10
ER

PT J
AU Xiong, YN
   Antalffy, G
   Enyedi, A
   Strehler, EE
AF Xiong, Yuning
   Antalffy, Geza
   Enyedi, Agnes
   Strehler, Emanuel E.
TI Apical localization of PMCA2w/b is lipid raft-dependent
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE Alternative splicing; Apical membrane; Lipid raft; Membrane targeting;
   Plasma membrane Calcium ATPase; PMCA2
ID PLASMA-MEMBRANE CA2+-ATPASE; CA2+ PUMP; CHOLESTEROL DEPLETION;
   EPITHELIAL-CELLS; CALCIUM PUMPS; PROTEINS; DOMAINS; BINDING; ROLES;
   TRANSPORT
AB Alternative splicing of the first intracellular loop differentially targets plasma membrane calcium ATPase (PMCA) isoform 2 to the apical or basolateral membrane in MDCK cells. To determine if the targeting is affected by lipid interactions, we stably expressed PMCA2w/b and PMCA2z/b in MDCK cells, and analyzed the PMCA distribution by confocal fluorescence microscopy and membrane fractionation. PMCA2w/b showed clear apical and lateral distribution, whereas PMCA2z/b was mainly localized to the basolateral membrane. A significant fraction of PMCA2w/b partitioned into low-density membranes associated with lipid rafts. Depletion of membrane cholesterol by methyl-beta-cyclodextrin resulted in reduced lipid raft association and a striking loss of PMCA2w/b from the apical membrane, whereas the lateral localization of PMCA2z/b remained unchanged. Our data indicate that alternative splicing differentially affects the lipid interactions of PMCA2w/b and PMCA2z/b and that the apical localization of PMCA2w/b is lipid raft-dependent and sensitive to cholesterol depletion. (c) 2009 Elsevier Inc. All Fights reserved.
C1 [Xiong, Yuning; Strehler, Emanuel E.] Mayo Clin, Coll Med, Dept Biochem & Mol Biol, Rochester, MN 55905 USA.
   [Antalffy, Geza; Enyedi, Agnes] Natl Blood Ctr, Dept Mol Cell Biol, H-1113 Budapest, Hungary.
C3 Mayo Clinic
RP Strehler, EE (corresponding author), Mayo Clin, Coll Med, Dept Biochem & Mol Biol, 200 1t St SW, Rochester, MN 55905 USA.
EM strehler.emanuel@mayo.edu
RI Enyedi, Agnes/N-9742-2013
OI Enyedi, Agnes/0000-0002-7366-9376
FU NIH [R01-NS517139]; Hungarian Academy of Sciences [OTKA K49476, ETT
   042/2006]
FX We thank Mark A. McNiven for the anti-caveolin-1 antibody. This work was
   Supported by NIH Grant R01-NS517139 to E.E.S. and by Hungarian Academy
   of Sciences Grants OTKA K49476 and ETT 042/2006 to A.E.
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NR 34
TC 19
Z9 19
U1 0
U2 4
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD JUN 19
PY 2009
VL 384
IS 1
BP 32
EP 36
DI 10.1016/j.bbrc.2009.04.044
PG 5
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 451HX
UT WOS:000266462400007
PM 19379709
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Jin, JP
   Chen, AH
   Huang, QQ
AF Jin, JP
   Chen, AH
   Huang, QQ
TI Three alternatively spliced mouse slow skeletal muscle troponin T
   isoforms: conserved primary structure and regulated expression during
   postnatal development
SO GENE
LA English
DT Article
DE cDNA cloning; nucleotide sequence; alternative RNA splicing
ID COMPLETE NUCLEOTIDE-SEQUENCE; ADULT ISOFORMS; CA2+ SENSITIVITY;
   ESCHERICHIA-COLI; SINGLE-GENE; TROPOMYOSIN; RAT; CONTRACTION; VARIANTS;
   CLONES
AB We have cloned and sequenced full-length cDNAs encoding mouse slow skeletal muscle troponin T (sTnT). Alternative mRNA splicing-generated two high M-r isoforms and one low M-r sTnT isoform differing in the NH2-terminal primary structure have been identified by Western blotting, reverse transcription-polymerase chain reaction and cDNA cloning/expression analyses. Together with a 5'-alternative exon that was also found in human sTnT encoding an 11-amino-acid acidic segment, the results revealed a novel alternative splicing pathway to include or exclude a three-base segment to generate additional sTnT isoforms with NH2-terminal charge variations. Overriding the phylogenetic divergence, primary structure of sTnT is better conserved between mammalian and avian species than that of cardiac, fast and skeletal muscle TnTs from one species. Western blots demonstrate four expression patterns of sTnT during postnatal skeletal muscle development: (1) a decrease to a non-detectable level in mouse masseter, (2) an increase to become the sole TnT in sheep masseter, (3) an increase of the total level as well as the proportion of the low M-r isoform in sheep diaphragm and, (4) no significant change in total level or high/low M-r isoform ratio in sheep gastrocnemius. The highly conserved primary structure and fiber type-specific and developmentally regulated expression of sTnT indicate a physiological importance of this under-studied member of the TnT gene family. (C) 1998 Elsevier Science B.V. All rights reserved.
C1 Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USA.
C3 University System of Ohio; Case Western Reserve University
RP Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USA.
EM jxj12@po.cwru.edu
RI Jin, Jian-Ping/AAD-1149-2020
OI Jin, JP/0000-0001-9932-1063
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NR 30
TC 68
Z9 78
U1 0
U2 0
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD JUL 3
PY 1998
VL 214
IS 1-2
BP 121
EP 129
DI 10.1016/S0378-1119(98)00214-5
PG 9
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 109JL
UT WOS:000075318400015
PM 9651500
DA 2025-04-10
ER

PT J
AU Liu, B
   Anderson, SL
   Qiu, JS
   Rubin, BY
AF Liu, Bo
   Anderson, Sylvia L.
   Qiu, Jinsong
   Rubin, Berish Y.
TI Cardiac glycosides correct aberrant splicing of IKBKAP-encoded
   mRNA in familial dysautonomia derived cells by suppressing expression of
   SRSF3
SO FEBS JOURNAL
LA English
DT Article
DE alternative splicing; cardiac glycoside; digoxin; familial dysautonomia;
   SRSF3
ID CANCER-CELLS; OLD DRUGS; IKAP; SR; PROTEIN; KINASE; TOCOTRIENOLS;
   ELONGATOR; SRP20; PURIFICATION
AB The ability to modulate the production of the wild-type transcript in cells bearing the splice-altering familial dysautonomia (FD) causing mutation in the IKBKAP gene prompted a study of the impact of a panel of pharmaceuticals on the splicing of this transcript, which revealed the ability of the cardiac glycoside digoxin to increase the production of the wild-type, exon-20-containing, IKBKAP-encoded transcript and the full-length IB-kinase-complex-associated protein in FD-derived cells. Characterization of the cis elements and trans factors involved in the digoxin-mediated effect on splicing reveals that this response is dependent on an SRSF3 binding site(s) located in the intron 5 of the alternatively spliced exon and that digoxin mediates its effect by suppressing the level of the SRSF3 protein. Characterization of the digoxin-mediated effect on the RNA splicing process was facilitated by the identification of several RNA splicing events in which digoxin treatment mediates the enhanced inclusion of exonic sequence. Moreover, we demonstrate the ability of digoxin to impact the splicing process in neuronal cells, a cell type profoundly impacted by FD. This study represents the first demonstration that digoxin possesses splice-altering capabilities that are capable of reversing the impact of the FD-causing mutation. These findings support the clinical evaluation of the impact of digoxin on the FD patient population.
C1 [Liu, Bo; Anderson, Sylvia L.; Qiu, Jinsong; Rubin, Berish Y.] Fordham Univ, Dept Biol Sci, Lab Familial Dysautonomia Res, Bronx, NY 10458 USA.
   [Qiu, Jinsong] Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA.
C3 Fordham University; University of California System; University of
   California San Diego
RP Rubin, BY (corresponding author), Fordham Univ, Dept Biol Sci, Bronx, NY 10458 USA.
EM rubin@fordham.edu
RI Qiu, Jinsong/K-2325-2013; Liu, Bo/G-5317-2015
OI Liu, Bo/0000-0002-4511-6926
FU Familial Dysautonomia Now; Cure FD Foundation; Eric Alterman Foundation
   for F.D. Cure; New York City Council
FX This work was funded by grants from Familial Dysautonomia Now, the Cure
   FD Foundation and the Eric Alterman Foundation for F.D. Cure. We also
   acknowledge the generous support of NYC Council Member G. Oliver Koppell
   and his securing of funds from the New York City Council to support this
   research effort.
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NR 67
TC 19
Z9 23
U1 1
U2 8
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1742-464X
EI 1742-4658
J9 FEBS J
JI FEBS J.
PD AUG
PY 2013
VL 280
IS 15
BP 3632
EP 3646
DI 10.1111/febs.12355
PG 15
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 253ZK
UT WOS:000327129100015
PM 23711097
OA Bronze
DA 2025-04-10
ER

PT J
AU van den Hoogenhof, MMG
   Beqqali, A
   Amin, AS
   van der Made, I
   Aufiero, S
   Khan, MAF
   Schumacher, CA
   Jansweijer, JA
   van Spaendonck-Zwarts, KY
   Remme, CA
   Backs, J
   Verkerk, AO
   Baartscheer, A
   Pinto, YM
   Creemers, EE
AF van den Hoogenhof, Maarten M. G.
   Beqqali, Abdelaziz
   Amin, Ahmad S.
   van der Made, Ingeborg
   Aufiero, Simona
   Khan, Mohsin A. F.
   Schumacher, Cees A.
   Jansweijer, Joeri A.
   van Spaendonck-Zwarts, Karin Y.
   Remme, Carol Ann
   Backs, Johannes
   Verkerk, Arie O.
   Baartscheer, Antonius
   Pinto, Yigal M.
   Creemers, Esther E.
TI RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related
   to Disturbed Calcium Handling
SO CIRCULATION
LA English
DT Article
DE alternative splicing; arrhythmias, cardiac; calcium; calcium channels,
   L-type; cardiomyopathy, dilated; ribonucleic acid binding motif protein
   20, human
ID CAM KINASE-II; CARDIAC-HYPERTROPHY; MOUSE MODEL; TITIN; ISOFORM;
   LOCALIZATION; REGULATOR; SIGNALS; GENE
AB BACKGROUND: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced dilated cardiomyopathy, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent to which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism.
   METHODS: We compared clinical characteristics of RBM20 and TTN mutation carriers and used our previously generated Rbm20 knockout (KO) mice to investigate downstream effects of Rbm20-dependent splicing. Cellular electrophysiology and Ca2+ measurements were performed on isolated cardiomyocytes from Rbm20 KO mice to determine the intracellular consequences of reduced Rbm20 levels.
   RESULTS: Sustained ventricular arrhythmias were more frequent in human RBM20 mutation carriers than in TTN mutation carriers (44% versus 5%, respectively, P=0.006). Splicing events that affected Ca2+-and ion-handling genes were enriched in Rbm20 KO mice, most notably in the genes CamkII delta and RyR2. Aberrant splicing of CamkII delta in Rbm20 KO mice resulted in a remarkable shift of CamkII delta toward the delta-A isoform that is known to activate the L-type Ca2+ current (I-Ca,I-L). In line with this, we found an increased I-Ca,I-L, intracellular Ca2+ overload and increased sarcoplasmic reticulum Ca2+ content in Rbm20 KO myocytes. In addition, not only complete loss of Rbm20, but also heterozygous loss of Rbm20 increased spontaneous sarcoplasmic reticulum Ca2+ releases, which could be attenuated by treatment with the I-Ca,I-L antagonist verapamil.
   CONCLUSIONS: We show that loss of Rbm20 disturbs Ca2+ handling and leads to more proarrhythmic Ca2+ releases from the sarcoplasmic reticulum. Patients that carry a pathogenic RBM20 mutation have more ventricular arrhythmias despite a similar left ventricular function, in comparison with patients with a TTN mutation. Our experimental data suggest that RBM20 mutation carriers may benefit from treatment with an I-Ca,I-L blocker to reduce their arrhythmia burden.
C1 [van den Hoogenhof, Maarten M. G.; Beqqali, Abdelaziz; Amin, Ahmad S.; van der Made, Ingeborg; Aufiero, Simona; Khan, Mohsin A. F.; Schumacher, Cees A.; Jansweijer, Joeri A.; Remme, Carol Ann; Verkerk, Arie O.; Baartscheer, Antonius; Pinto, Yigal M.; Creemers, Esther E.] Acad Med Ctr, Dept Expt Cardiol, Amsterdam, Netherlands.
   [Aufiero, Simona; Khan, Mohsin A. F.] Acad Med Ctr, Dept Clin Epidemiol Biostat & Bioinformat, Amsterdam, Netherlands.
   [van Spaendonck-Zwarts, Karin Y.] Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands.
   [Verkerk, Arie O.] Acad Med Ctr, Dept Med Biol, Amsterdam, Netherlands.
   [Backs, Johannes] Heidelberg Univ, Dept Mol Cardiol & Epigenet, Heidelberg, Germany.
C3 University of Amsterdam; Academic Medical Center Amsterdam; University
   of Amsterdam; Academic Medical Center Amsterdam; University of
   Amsterdam; Academic Medical Center Amsterdam; University of Amsterdam;
   Academic Medical Center Amsterdam; Ruprecht Karls University Heidelberg
RP Creemers, EE (corresponding author), Acad Med Ctr, Expt Cardiol, Room K2-104-2,Meibergdreef 15, NL-1105 AZ Amsterdam, Netherlands.; Pinto, YM (corresponding author), Acad Med Ctr, Expt Cardiol, Rm K2-104,Meibergdreef 15, NL-1105 AZ Amsterdam, Netherlands.
EM y.pinto@amc.uva.nl; e.e.creemers@amc.uva.nl
RI Amin, Ahmad/Y-8107-2019; Verkerk, Arie/HQZ-9694-2023; van
   Spaendonck-Zwarts, Karin/AAY-1506-2021; Beqqali, Abdelaziz/F-8568-2013
OI Amin, A.S./0000-0002-1600-7907; Beqqali, Abdelaziz/0000-0003-1390-5821;
   van den Hoogenhof, Maarten/0000-0003-2768-3457; Remme, Carol
   Ann/0000-0003-0095-0084; Verkerk, Arie/0000-0003-2140-834X; Aufiero,
   Simona/0000-0003-0782-3985; Creemers, Esther/0000-0002-9001-3854; ,
   yigal/0000-0002-2836-571X
FU Academic Medical Center PhD Fellowship; Netherlands Organization for
   Scientific Research [NWO-836.12.002, NWO-821.02.021]; Netherlands
   Cardiovascular Research Initiative [CVON-ARENA-2011-11]; Netherlands
   Cardiovascular Research Initiative (CVON-ARENA Young Talent)
FX This work was supported by an Academic Medical Center PhD Fellowship (to
   Dr van den Hoogenhof) and by grants from the Netherlands Organization
   for Scientific Research (NWO-836.12.002 and NWO-821.02.021) to Drs
   Creemers and Pinto and the Netherlands Cardiovascular Research
   Initiative (CVON-ARENA-2011-11 and CVON-ARENA Young Talent) to Drs Pinto
   and Beqqali.
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NR 43
TC 148
Z9 159
U1 0
U2 7
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7322
EI 1524-4539
J9 CIRCULATION
JI Circulation
PD SEP 25
PY 2018
VL 138
IS 13
BP 1330
EP 1342
DI 10.1161/CIRCULATIONAHA.117.031947
PG 13
WC Cardiac & Cardiovascular Systems; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA HC9WB
UT WOS:000452157200014
PM 29650543
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Chen, MY
   Beaven, S
   Tontonoz, P
AF Chen, MY
   Beaven, S
   Tontonoz, P
TI Identification and characterization of two alternatively spliced
   transcript variants of human liver X receptor alpha
SO JOURNAL OF LIPID RESEARCH
LA English
DT Article
DE nuclear receptor; cholesterol metabolism; transcriptional regulation;
   RXR
ID ORPHAN NUCLEAR RECEPTORS; LXR-ALPHA; OXYSTEROL RECEPTORS; CHOLESTEROL
   EFFLUX; RESPONSE PATHWAY; GENE-EXPRESSION; LIGAND-BINDING; RXR-ALPHA;
   BETA; AF-1
AB The liver X receptor alpha ( LXR alpha) is a member of the nuclear hormone receptor superfamily that plays an important role in lipid homeostasis. Here we characterize two alternative human LXR alpha transcripts, designated LXR alpha 2 and LXR alpha 3. All three LXR alpha isoforms are derived from the same gene via alternative splicing and differential promoter usage. The LXR alpha 2 isoform lacks the first 45 amino acids of LXR alpha 1, and is generated through the use of a novel promoter and first exon. LXR alpha 3 lacks 50 amino acids within the ligand binding domain and is generated through alternative recognition of the 3 ' - splice site in exon 6. LXR alpha 2 and LXR alpha 3 are expressed at lower levels compared with LXR alpha 1 in most tissues, except that LXR alpha 2 expression is dominant in testis. Both LXR alpha 2 and LXR alpha 3 heterodimerize with the retinoid X receptor and bind to LXR response elements. LXR alpha 2 shows reduced transcriptional activity relative to LXR alpha 1, indicating that the N- terminal domain of LXR alpha is essential for its full transcriptional activity. LXR alpha 3 is unable to bind ligand and is transcriptionally inactive. These observations outline a previously unrecognized role for the N terminus in LXR function and suggest that the expression of alternative LXR alpha transcripts in certain biological contexts may impact LXR signaling and lipid metabolism. Chen, M., S. Beaven, and P. Tontonoz. Identification and characterization of two alternatively spliced transcript variants of human liver X receptor alpha.
C1 Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA.
   Univ Calif Los Angeles, Dept Med, Div Digest Dis, Los Angeles, CA 90095 USA.
   Univ Calif Los Angeles, Howard Hughes Med Inst, Los Angeles, CA 90095 USA.
C3 University of California System; University of California Los Angeles;
   University of California System; University of California Los Angeles;
   University of California System; University of California Los Angeles;
   Howard Hughes Medical Institute
RP Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA.
EM ptontonoz@mednet.ucla.edu
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NR 43
TC 46
Z9 56
U1 0
U2 2
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 0022-2275
EI 1539-7262
J9 J LIPID RES
JI J. Lipid Res.
PD DEC
PY 2005
VL 46
IS 12
BP 2570
EP 2579
DI 10.1194/jlr.M500157-JLR200
PG 10
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 984JZ
UT WOS:000233301100004
PM 16170053
DA 2025-04-10
ER

PT J
AU Zappe, K
   Kopic, A
   Scheichel, A
   Schier, AK
   Schmidt, LE
   Borutzki, Y
   Miedl, H
   Schreiber, M
   Mendrina, T
   Pirker, C
   Pfeiler, G
   Hacker, S
   Haslik, W
   Pils, D
   Bileck, A
   Gerner, C
   Meier-Menches, S
   Heffeter, P
   Cichna-Markl, M
AF Zappe, Katja
   Kopic, Antonio
   Scheichel, Alexandra
   Schier, Ann-Katrin
   Schmidt, Lukas Emanuel
   Borutzki, Yasmin
   Miedl, Heidi
   Schreiber, Martin
   Mendrina, Theresa
   Pirker, Christine
   Pfeiler, Georg
   Hacker, Stefan
   Haslik, Werner
   Pils, Dietmar
   Bileck, Andrea
   Gerner, Christopher
   Meier-Menches, Samuel
   Heffeter, Petra
   Cichna-Markl, Margit
TI Aberrant DNA Methylation, Expression, and Occurrence of Transcript
   Variants of the ABC Transporter ABCA7 in Breast Cancer
SO CELLS
LA English
DT Article
DE ABCA7; ABC transporter; breast cancer; DNA methylation; gene expression;
   alternative splicing; intron retention; altered intron termination; mass
   spectrometry-based shotgun proteomics; doxorubicin; paclitaxel
ID CELLULAR CHOLESTEROL; INTRON RETENTION; COMMON VARIANTS;
   GENE-EXPRESSION; ASSOCIATION; CELLS; PROTEINS; PHAGOCYTOSIS;
   PROGRESSION; MECHANISM
AB The ABC transporter ABCA7 has been found to be aberrantly expressed in a variety of cancer types, including breast cancer. We searched for specific epigenetic and genetic alterations and alternative splicing variants of ABCA7 in breast cancer and investigated whether these alterations are associated with ABCA7 expression. By analyzing tumor tissues from breast cancer patients, we found CpGs at the exon 5-intron 5 boundary aberrantly methylated in a molecular subtype-specific manner. The detection of altered DNA methylation in tumor-adjacent tissues suggests epigenetic field cancerization. In breast cancer cell lines, DNA methylation levels of CpGs in promoter-exon 1, intron 1, and at the exon 5-intron 5 boundary were not correlated with ABCA7 mRNA levels. By qPCR involving intron-specific and intron-flanking primers, we identified intron-containing ABCA7 mRNA transcripts. The occurrence of intron-containing transcripts was neither molecular subtype-specific nor directly correlated with DNA methylation at the respective exon-intron boundaries. Treatment of breast cancer cell lines MCF-7, BT-474, SK-BR3, and MDA-MB-231 with doxorubicin or paclitaxel for 72 h resulted in altered ABCA7 intron levels. Shotgun proteomics revealed that an increase in intron-containing transcripts was associated with significant dysregulation of splicing factors linked to alternative splicing.
C1 [Zappe, Katja; Kopic, Antonio; Scheichel, Alexandra; Schier, Ann-Katrin; Schmidt, Lukas Emanuel; Borutzki, Yasmin; Bileck, Andrea; Gerner, Christopher; Meier-Menches, Samuel; Cichna-Markl, Margit] Univ Vienna, Fac Chem, Dept Analyt Chem, A-1090 Vienna, Austria.
   [Borutzki, Yasmin; Mendrina, Theresa; Meier-Menches, Samuel] Univ Vienna, Fac Chem, Dept Inorgan Chem, A-1090 Vienna, Austria.
   [Miedl, Heidi; Schreiber, Martin] Med Univ Vienna, Comprehens Canc Ctr, Dept Obstet & Gynecol, A-1090 Vienna, Austria.
   [Mendrina, Theresa; Pirker, Christine; Heffeter, Petra] Med Univ Vienna, Ctr Canc Res, Comprehens Canc Ctr, A-1090 Vienna, Austria.
   [Pfeiler, Georg] Med Univ Vienna, Dept Obstet & Gynecol, Div Gynecol & Gynecol Oncol, A-1090 Vienna, Austria.
   [Hacker, Stefan; Haslik, Werner] Med Univ Vienna, Dept Plast & Reconstruct Surg, A-1090 Vienna, Austria.
   [Pils, Dietmar] Med Univ Vienna, Comprehens Canc Ctr, Dept Gen Surg, Div Visceral Surg, A-1090 Vienna, Austria.
   [Bileck, Andrea; Gerner, Christopher; Meier-Menches, Samuel] Univ Vienna, Med Univ Vienna, Joint Metabolome Facil, A-1090 Vienna, Austria.
C3 University of Vienna; University of Vienna; Medical University of
   Vienna; Medical University of Vienna; Medical University of Vienna;
   Medical University of Vienna; Medical University of Vienna; University
   of Vienna; Medical University of Vienna
RP Cichna-Markl, M (corresponding author), Univ Vienna, Fac Chem, Dept Analyt Chem, A-1090 Vienna, Austria.
EM margit.cichna@univie.ac.at
RI ; Schreiber, Martin/F-2175-2013; Meier-Menches, Samuel M./L-8203-2018
OI Schmidt, Lukas Emanuel/0000-0001-7565-1455; Borutzki,
   Yasmin/0000-0001-9067-4735; Zappe, Katja/0000-0003-2002-9727; Schreiber,
   Martin/0000-0003-1102-7789; Meier-Menches, Samuel M./0000-0002-8930-4574
FU University of Vienna
FX This article was supported by the Open Access Funding by the University
   of Vienna.
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NR 106
TC 3
Z9 4
U1 0
U2 3
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2073-4409
J9 CELLS-BASEL
JI Cells
PD MAY 24
PY 2023
VL 12
IS 11
AR 1462
DI 10.3390/cells12111462
PG 34
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA J0EW1
UT WOS:001006431300001
PM 37296582
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Angelotti, T
   Hofmann, F
AF Angelotti, T
   Hofmann, F
TI Tissue-specific expression of splice variants of the mouse voltage-gated
   calcium channel alpha 2/delta subunit
SO FEBS LETTERS
LA English
DT Article
DE calcium channel; tissue-specific expression; alternative splicing; RNAse
   protection assay
ID SKELETAL-MUSCLE; BETA-SUBUNIT; FUNCTIONAL EXPRESSION; CA2+ CHANNELS;
   ALPHA-2-SUBUNIT; BRAIN; ROLES; ALPHA-1-SUBUNIT; IDENTIFICATION;
   PURIFICATION
AB Five different splice variants of mouse alpha 2/delta subunit isoforms (alpha 2a-e), which arose from various combinations of three alternatively spliced regions, were cloned with a combination of cDNA library screening and RT-PCR, Expression patterns and relative abundance of the various isoforms in mouse tissues were determined with an RNAse protection assay, Skeletal muscle and brain expressed single isoforms, alpha 2a and alpha 2b, respectively; however, the cardiovascular system expressed all five isoforms, Heart expressed mainly isoforms alpha 2c and alpha 2d while, in contrast to other species, aorta expressed predominantly alpha 2a, the 'skeletal muscle' isoform. Smooth muscle-containing tissues expressed alpha 2d and alpha 2e. Thus, alpha 2/delta isoforms are restricted in their tissue expression, suggesting an important functional role for the differentially spliced variants.
C1 TECH UNIV MUNICH,INST PHARMACOL & TOXICOL,D-80802 MUNICH,GERMANY.
C3 Technical University of Munich
RI Angelotti, Timothy/AAD-3714-2022
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NR 30
TC 59
Z9 73
U1 0
U2 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0014-5793
J9 FEBS LETT
JI FEBS Lett.
PD NOV 18
PY 1996
VL 397
IS 2-3
BP 331
EP 337
DI 10.1016/S0014-5793(96)01205-7
PG 7
WC Biochemistry & Molecular Biology; Biophysics; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics; Cell Biology
GA VV171
UT WOS:A1996VV17100043
PM 8955374
OA Bronze
DA 2025-04-10
ER

PT J
AU Jones, ARC
   Mallon, EB
AF Jones, Alun R. C.
   Mallon, Eamonn B.
TI Evidence of capacitation in the parasitoid wasp, Nasonia
   vitripennis, and its potential role in sex allocation
SO ECOLOGY AND EVOLUTION
LA English
DT Article
DE alternative splicing; sex allocation; sperm motility; transcriptomics
ID GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; LOCAL MATE COMPETITION;
   GLUCOSE-DEHYDROGENASE; REPRODUCTIVE-SYSTEM; SPERM COMPETITION; SEQUENCE;
   ENDOPEPTIDASE; SPERMATOZOA; ACTIVATION; SILKWORM
AB The allocation of resources to the production of one sex or another has been observed in a large variety of animals. Its theoretical basis allows accurate predictions of offspring sex ratios in many species, but the mechanisms by which sex allocation is controlled are poorly understood. Using previously published data, we investigated whether alternative splicing, combined with differential gene expression, was involved with sex allocation in the parasitoid wasp, Nasonia vitripennis. We found that sex allocation is not controlled by alternative splicing but changes in gene and transcript-specific expression, which were identified to be involved with oviposition, were shown to be similar to those involved in sperm motility and capacitation. Genes involved in cholesterol efflux, a key component of capacitation, along with calcium transport, neurotransmission, trypsin, and MAPKinase activity were regulated in ovipositing wasps. The results show evidence for regulation of sperm motility and of capacitation in an insect which, in the context of the physiology of the N. vitripennis spermatheca, could be important for sex allocation.
C1 [Jones, Alun R. C.; Mallon, Eamonn B.] Univ Leicester, Dept Genet & Genome Biol, Univ Rd, Leicester LE1 7RH, Leics, England.
C3 University of Leicester
RP Jones, ARC (corresponding author), Univ Leicester, Dept Genet & Genome Biol, Univ Rd, Leicester LE1 7RH, Leics, England.
EM aj258@le.ac.uk
RI Jones, Alun/LKJ-2681-2024; Mallon, Eamonn/H-1834-2011
OI Mallon, Eamonn/0000-0002-4198-4611; Jones, Alun/0000-0002-8757-8686
FU Biotechnology and Biological Sciences Research Council; NERC
   [NE/N010019/1] Funding Source: UKRI
FX Biotechnology and Biological Sciences Research Council
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NR 66
TC 0
Z9 0
U1 1
U2 13
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 2045-7758
J9 ECOL EVOL
JI Ecol. Evol.
PD JUL
PY 2020
VL 10
IS 14
BP 7212
EP 7220
DI 10.1002/ece3.6422
EA JUN 2020
PG 9
WC Ecology; Evolutionary Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Environmental Sciences & Ecology; Evolutionary Biology
GA MU4PL
UT WOS:000536792800001
PM 32760522
OA Green Published, gold, Green Submitted
DA 2025-04-10
ER

PT J
AU Wen, HM
   Chen, W
   Chen, Y
   Wei, G
   Ni, T
AF Wen, Haimei
   Chen, Wei
   Chen, Yu
   Wei, Gang
   Ni, Ting
TI Integrative analysis of Iso-Seq and RNA-seq reveals dynamic changes of
   alternative promoter, alternative splicing and alternative
   polyadenylation during Angiotensin II-induced senescence in rat primary
   aortic endothelial cells
SO FRONTIERS IN GENETICS
LA English
DT Article
DE rat primary aortic endothelial cells senescence; Iso-Seq; RNA-seq;
   Angiotensin II; alternative promoter; alternative splicing; alternative
   polyadenylation
ID SIGNAL-TRANSDUCTION; CLEAVAGE; ANGIOGENESIS; INVOLVEMENT; ACTIVATION;
   MECHANISMS; EXPRESSION; THERAPY; MODELS; GENES
AB In eukaryotes, alternative promoter (AP), alternative splicing (AS), and alternative polyadenylation (APA) are three crucial regulatory mechanisms that modulate message RNA (mRNA) diversity. Although AP, AS and APA are involved in diverse biological processess, whether they have dynamic changes in Angiotensin II (Ang II) induced senescence in rat primary aortic endothelial cells (RAECs), an important cellular model for studying cardiovascular disease, remains unclear. Here we integrated both PacBio single-molecule long-read isoform sequencing (Iso-Seq) and Illumina short-read RNA sequencing (RNA-seq) to analyze the changes of AP, AS and APA in Ang II-induced senescent RAECs. Iso-Seq generated 36,278 isoforms from 10,145 gene loci and 65.81% of these isoforms are novel, which were further cross-validated by public data obtained by other techonologies such as CAGE, PolyA-Seq and 3 ' READS. APA contributed most to novel isoforms, followed by AS and AP. Further investigation showed that AP, AS and APA could all contribute to the regulation of isoform, but AS has more dynamic changes compared to AP and APA upon Ang II stimulation. Genes undergoing AP, AS and APA in Ang II-treated cells are enriched in various pathways related to aging or senescence, suggesting that these molecular changes are involved in functional alterations during Ang II-induced senescence. Together, the present study largely improved the annotation of rat genome and revealed gene expression changes at isoform level, extending the understanding of the complexity of gene regulation in Ang II-treated RAECs, and also provided novel clues for discovering the regulatory mechanism undelying Ang II caused vascular senescence and diseases.
C1 [Wen, Haimei; Chen, Wei; Chen, Yu; Wei, Gang; Ni, Ting] Fudan Univ, Human Phenome Inst, Collaborat Innovat Ctr Genet & Dev, Sch Life Sci, Shanghai, Peoples R China.
   [Wen, Haimei; Wei, Gang] Fudan Univ, Sch Life Sci, Key Lab Contemporary Anthropol, Minist Educ, Shanghai, Peoples R China.
C3 Fudan University; Fudan University
RP Wei, G; Ni, T (corresponding author), Fudan Univ, Human Phenome Inst, Collaborat Innovat Ctr Genet & Dev, Sch Life Sci, Shanghai, Peoples R China.; Wei, G (corresponding author), Fudan Univ, Sch Life Sci, Key Lab Contemporary Anthropol, Minist Educ, Shanghai, Peoples R China.
EM gwei@fudan.edu.cn; tingni@fudan.edu.cn
OI Wen, Haimei/0009-0006-1600-1210
FU National Key R&D Program of China [2021YFA0909300]; National Natural
   Science Foundation of China [91949107, 92249302]; Natural Science
   Foundation Project of Shanghai [21ZR1407000]
FX This work is financially supported by the National Key R & D Program of
   China (2021YFA0909300) and the National Natural Science Foundation of
   China (91949107, 92249302), and the Natural Science Foundation Project
   of Shanghai (21ZR1407000).
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NR 87
TC 2
Z9 2
U1 3
U2 19
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
EI 1664-8021
J9 FRONT GENET
JI Front. Genet.
PD JAN 19
PY 2023
VL 14
AR 1064624
DI 10.3389/fgene.2023.1064624
PG 16
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 8N1GO
UT WOS:000924900400001
PM 36741323
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Tejedor, JR
   Tilgner, H
   Iannone, C
   Guigó, R
   Valcárcel, J
AF Ramon Tejedor, J.
   Tilgner, Hagen
   Iannone, Camilla
   Guigo, Roderic
   Valcarcel, Juan
TI Role of six single nucleotide polymorphisms, risk factors in coronary
   disease, in OLR1 alternative splicing
SO RNA
LA English
DT Article
DE alternative splicing; OLR1; SNP; SR proteins; RRM; linkage
   disequilibrium; coronary disease
ID DENSITY-LIPOPROTEIN RECEPTOR-1; PRE-MESSENGER-RNA; HUMAN LECTIN-LIKE;
   GENETIC-VARIATION; FACTOR SF2/ASF; SR PROTEINS; LOX-1; ATHEROSCLEROSIS;
   CANCER; SC35
AB The OLR1 gene encodes the oxidized low-density lipoprotein receptor (LOX-1), which is responsible for the cellular uptake of oxidized LDL (Ox-LDL), foam cell formation in atheroma plaques and atherosclerotic plaque rupture. Alternative splicing (AS) of OLR1 exon 5 generates two protein isoforms with antagonistic functions in Ox-LDL uptake. Previous work identified six single nucleotide polymorphisms (SNPs) in linkage disequilibrium that influence the inclusion levels of OLR1 exon 5 and correlate with the risk of cardiovascular disease. Here we use minigenes to recapitulate the effects of two allelic series (Low- and High-Risk) on OLR1 AS and identify one SNP in intron 4 (rs3736234) as the main contributor to the differences in exon 5 inclusion, while the other SNPs in the allelic series attenuate the drastic effects of this key SNP. Bioinformatic, proteomic, mutational and functional high-throughput analyses allowed us to define regulatory sequence motifs and identify SR protein family members (SRSF1, SRSF2) and HMGA1 as factors involved in the regulation of OLR1 AS. Our results suggest that antagonism between SRSF1 and SRSF2/HMGA1, and differential recognition of their regulatory motifs depending on the identity of the rs3736234 polymorphism, influence OLR1 exon 5 inclusion and the efficiency of Ox-LDL uptake, with potential implications for atherosclerosis and coronary disease.
C1 [Ramon Tejedor, J.; Tilgner, Hagen; Iannone, Camilla; Guigo, Roderic; Valcarcel, Juan] Ctr Regulacio Genom, Barcelona 08003, Spain.
   [Ramon Tejedor, J.; Tilgner, Hagen; Iannone, Camilla; Guigo, Roderic; Valcarcel, Juan] Univ Pompeu Fabra, Barcelona 08003, Spain.
   [Valcarcel, Juan] Inst Catalana Recerca & Estudis Avancats, Barcelona 08020, Spain.
C3 Barcelona Institute of Science & Technology; Pompeu Fabra University;
   Centre de Regulacio Genomica (CRG); Pompeu Fabra University; ICREA
RP Valcárcel, J (corresponding author), Ctr Regulacio Genom, Barcelona 08003, Spain.
EM juan.valcarcel@crg.eu
RI Tejedor, Juan Ramon/AAI-4086-2020; Guigo, Roderic/D-1303-2010;
   Valcarcel, Juan/O-9814-2014
OI Tejedor, Juan Ramon/0000-0002-4061-9698; Guigo,
   Roderic/0000-0002-5738-4477; Tilgner, Hagen U/0000-0002-7058-3606;
   Valcarcel, Juan/0000-0001-5398-3571
FU Fondo de Investigaciones Sanitarias; La Caixa; Fundacion Botin; Banco de
   Santander through its Santander Universities Global Division; Consolider
   RNAREG; Ministerio de Economia e Innovacion; AGAUR; ICREA Funding
   Source: Custom
FX We thank many CRG colleagues, laboratory members, and EURASNET members
   for their advice, encouragement, and critical reading of the manuscript,
   Xavier Estivill and the Genomics and Disease group of the CRG for their
   help with accession to HapMap samples, and Adrian Krainer and Javier
   Caceres for valuable reagents. We also thank an anonymous referee for
   detailed reviewing of data presentation. We acknowledge the excellent
   technical support of the CRG Robotics, Cell Sorting, and Proteomics
   Facilities. J.R.T. and C.I. were supported by PhD fellowships from Fondo
   de Investigaciones Sanitarias and La Caixa, respectively. This work was
   supported by Fundacion Botin, by Banco de Santander through its
   Santander Universities Global Division, and by Consolider RNAREG,
   Ministerio de Economia e Innovacion, and AGAUR.
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NR 64
TC 15
Z9 17
U1 1
U2 14
PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
PI COLD SPRING HARBOR
PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA
SN 1355-8382
EI 1469-9001
J9 RNA
JI RNA
PD JUN
PY 2015
VL 21
IS 6
BP 1187
EP 1202
DI 10.1261/rna.049890.115
PG 16
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA CK6CN
UT WOS:000356316200011
PM 25904137
OA Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Bertero, A
   Fields, PA
   Ramani, V
   Bonora, G
   Yardimci, GG
   Reinecke, H
   Pabon, L
   Noble, WS
   Shendure, J
   Murry, CE
AF Bertero, Alessandro
   Fields, Paul A.
   Ramani, Vijay
   Bonora, Giancarlo
   Yardimci, Galip G.
   Reinecke, Hans
   Pabon, Lil
   Noble, William S.
   Shendure, Jay
   Murry, Charles E.
TI Dynamics of genome reorganization during human cardiogenesis reveal an
   RBM20-dependent splicing factory
SO NATURE COMMUNICATIONS
LA English
DT Article
ID CHROMATIN; RBM20; TITIN; DOMAINS; GENE; CARDIOMYOPATHY; VISUALIZATION;
   ORGANIZATION; EXPRESSION; PRINCIPLES
AB Functional changes in spatial genome organization during human development are poorly understood. Here we report a comprehensive profile of nuclear dynamics during human cardiogenesis from pluripotent stem cells by integrating Hi-C, RNA-seq and ATAC-seq. While chromatin accessibility and gene expression show complex on/off dynamics, large-scale genome architecture changes are mostly unidirectional. Many large cardiac genes transition from a repressive to an active compartment during differentiation, coincident with upregulation. We identify a network of such gene loci that increase their association inter-chromosomally, and are targets of the muscle-specific splicing factor RBM20. Genome editing studies show that TTN pre-mRNA, the main RBM20-regulated transcript in the heart, nucleates RBM20 foci that drive spatial proximity between the TTN locus and other inter-chromosomal RBM20 targets such as CACNA1C and CAMK2D. This mechanism promotes RBM20-dependent alternative splicing of the resulting transcripts, indicating the existence of a cardiac-specific trans-interacting chromatin domain (TID) functioning as a splicing factory.
C1 [Bertero, Alessandro; Fields, Paul A.; Reinecke, Hans; Pabon, Lil; Murry, Charles E.] Univ Washington, Dept Pathol, 1959 NE Pacific St, Seattle, WA 98195 USA.
   [Bertero, Alessandro; Fields, Paul A.; Reinecke, Hans; Pabon, Lil; Murry, Charles E.] Univ Washington, Ctr Cardiovasc Biol, 850 Republican St,Brotman Bldg, Seattle, WA 98109 USA.
   [Bertero, Alessandro; Fields, Paul A.; Reinecke, Hans; Pabon, Lil; Murry, Charles E.] Univ Washington, Inst Stem Cell & Regenerat Med, 850 Republican St, Seattle, WA 98109 USA.
   [Ramani, Vijay; Bonora, Giancarlo; Yardimci, Galip G.; Noble, William S.; Shendure, Jay] Univ Washington, Dept Genome Sci, William H Foege Hall,3720 15th Ave NE, Seattle, WA 98195 USA.
   [Shendure, Jay] Howard Hughes Med Inst, Seattle, WA USA.
   [Murry, Charles E.] Univ Washington, Dept Med Cardiol, 1959 NE Pacific St, Seattle, WA 98195 USA.
   [Murry, Charles E.] Univ Washington, Dept Bioengn, 3720 15th Ave NE, Seattle, WA 98195 USA.
C3 University of Washington; University of Washington Seattle; University
   of Washington; University of Washington Seattle; University of
   Washington; University of Washington Seattle; University of Washington;
   University of Washington Seattle; Howard Hughes Medical Institute;
   University of Washington; University of Washington Seattle; University
   of Washington; University of Washington Seattle
RP Murry, CE (corresponding author), Univ Washington, Dept Pathol, 1959 NE Pacific St, Seattle, WA 98195 USA.; Murry, CE (corresponding author), Univ Washington, Ctr Cardiovasc Biol, 850 Republican St,Brotman Bldg, Seattle, WA 98109 USA.; Murry, CE (corresponding author), Univ Washington, Inst Stem Cell & Regenerat Med, 850 Republican St, Seattle, WA 98109 USA.; Murry, CE (corresponding author), Univ Washington, Dept Med Cardiol, 1959 NE Pacific St, Seattle, WA 98195 USA.; Murry, CE (corresponding author), Univ Washington, Dept Bioengn, 3720 15th Ave NE, Seattle, WA 98195 USA.
EM murry@uw.edu
RI Noble, William/AEP-1001-2022; Bertero, Alessandro/AAC-7409-2021;
   Shendure, Jay/AAU-3684-2021
OI Murry, Charles/0000-0003-3862-6773; Bertero,
   Alessandro/0000-0002-4919-9087; Noble, William/0000-0001-7283-4715;
   Fields, Paul/0000-0002-9608-6464
FU EMBO Long-Term Fellowship [ALTF 448-2017]; Experimental Pathology of
   Cardiovascular Disease training grant, NIH [T32 HL007312]; Foundation
   Leducq Transatlantic Network of Excellence; NIH [R24 HD000836];  [P01
   GM081619];  [R01 HL128362]
FX Thank you to members of the Murry lab for helpful discussions during the
   development of this project and especially to Xiulan Yang for assistance
   with obtaining samples and Katie Mitzelfelt and Silvia Marchiano for
   experimental support. We thank members of the Shendure and Noble labs
   and in particular Ruolan Qiu and Kate Cook for assistance with Hi-C
   technology and analysis. Flow cytometry was done with assistance from UW
   Cell Analysis Facility in the Department of Immunology. We would like to
   acknowledge the Mike and Lynn Garvey Cell Imaging Lab at UW and its
   director Dale Hailey for assistance with sample imaging and analysis. We
   thank members of the Birth Defects Research Laboratory for assistance in
   obtaining human heart tissue. A.B. is funded by an EMBO Long-Term
   Fellowship, ALTF 448-2017. P.A.F. is funded through Experimental
   Pathology of Cardiovascular Disease training grant, NIH T32 HL007312.
   This work is part of the NIH 4D Nucleome consortium (NIH U54 DK107979,
   to C.E.M., W.S.N. and J.S.), with additional support from P01 GM081619,
   R01 HL128362, and the Foundation Leducq Transatlantic Network of
   Excellence (to C.E.M.). The Birth Defects Research Laboratory is
   supported by NIH grant R24 HD000836.
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NR 73
TC 93
Z9 109
U1 0
U2 10
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
EI 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD APR 4
PY 2019
VL 10
AR 1538
DI 10.1038/s41467-019-09483-5
PG 19
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA HR7DX
UT WOS:000463313200014
PM 30948719
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Maury, Y
   Poydenot, P
   Brinon, B
   Lesueur, L
   Gide, J
   Roquevière, S
   Côme, J
   Polvèche, H
   Auboeuf, D
   Denis, JA
   Pietu, G
   Furling, D
   Lechuga, M
   Baghdoyan, S
   Peschanski, M
   Martinat, C
AF Maury, Yves
   Poydenot, Pauline
   Brinon, Benjamin
   Lesueur, Lea
   Gide, Jacqueline
   Roqueviere, Sylvain
   Come, Julien
   Polveche, Helene
   Auboeuf, Didier
   Denis, Jerome Alexandre
   Pietu, Genevieve
   Furling, Denis
   Lechuga, Marc
   Baghdoyan, Sandrine
   Peschanski, Marc
   Martinat, Cecile
TI Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as
   Modulators of Myotonic Dystrophy Type 1
SO ISCIENCE
LA English
DT Article
ID MUSCLE PATHOLOGY; SMALL-MOLECULE; MESSENGER-RNA; MOUSE MODELS; NUCLEAR
   FOCI; TOXICITY; REPEAT; MECHANISMS; EXPRESSION; GSK3-BETA
AB There is currently no treatment for myotonic dystrophy type 1 (DM1), the most frequent myopathy of genetic origin. This progressive neuromuscular disease is caused by nuclear-retained RNAs containing expanded CUG repeats. These toxic RNAs alter the activities of RNA splicing factors, resulting in alternative splicing misregulation. By combining human mutated pluripotent stem cells and phenotypic drug screening, we revealed that cardiac glycosides act as modulators for both upstream nuclear aggregations of DMPK mRNAs and several downstream alternative mRNA splicing defects. However, these occurred at different drug concentration ranges. Similar biological effects were recorded in a DM1 mouse model. At the mechanistic level, we demonstrated that this effect was calcium dependent and was synergic with inhibition of the ERK pathway. These results further underscore the value of stem-cell-based assays for drug discovery in monogenic diseases.
C1 [Maury, Yves; Poydenot, Pauline; Brinon, Benjamin; Gide, Jacqueline; Come, Julien; Lechuga, Marc; Peschanski, Marc] I STEM, CECS, AFM, F-91100 Corbeil Essonnes, France.
   [Lesueur, Lea; Roqueviere, Sylvain; Denis, Jerome Alexandre; Pietu, Genevieve; Baghdoyan, Sandrine; Peschanski, Marc; Martinat, Cecile] ISTEM, INSERM, UMR 861, UEVE,AFM, F-91100 Corbeil Essonnes, France.
   [Polveche, Helene; Auboeuf, Didier] LBMC, F-69007 Lyon, France.
   [Furling, Denis] UPMC Univ Paris 06, Sorbonne Univ, INSERM, Ctr Rech Myol,UMRS974,Inst Myol, F-75013 Paris, France.
C3 Institut National de la Sante et de la Recherche Medicale (Inserm);
   Universite Paris Saclay; Institut National de la Sante et de la
   Recherche Medicale (Inserm); Universite Paris Saclay; CHU Lyon; Centre
   National de la Recherche Scientifique (CNRS); Ecole Normale Superieure
   de Lyon (ENS de LYON); Universite Claude Bernard Lyon 1; Universite Jean
   Monnet; Institut National de la Sante et de la Recherche Medicale
   (Inserm); Sorbonne Universite
RP Martinat, C (corresponding author), ISTEM, INSERM, UMR 861, UEVE,AFM, F-91100 Corbeil Essonnes, France.
EM cmartinat@istem.fr
RI DENIS, Jérôme/AAG-1650-2019; Auboeuf, Didier/M-4610-2014; Furling,
   Denis/M-2346-2017; Martinat, Cecile/F-6777-2010
OI Polveche, Helene/0000-0002-5601-3498; Baghdoyan,
   Sandrine/0000-0002-5904-7394; Martinat, Cecile/0000-0002-5234-1064;
   Auboeuf, Didier/0000-0002-3757-0002
FU Association Frangaisecontre les Myopathies (AFM-Telethon); AFM; INSERM;
   ANR [ANR-16-CE17-0018]; Laboratoired'Excellence Revive
   (Investissementd'Avenir) [ANR-10-LABX-73]; Agence Nationale de la
   Recherche (ANR) [ANR-16-CE17-0018] Funding Source: Agence Nationale de
   la Recherche (ANR)
FX I-Stem is part of the Biotherapies Institute for Rare Diseases (BIRD),
   supported by the Association Frangaisecontre les Myopathies
   (AFM-Telethon). This project was supported by AFM and INSERM. This
   project was also funded by grants from ANR (ANR-16-CE17-0018), AFM, and
   the Laboratoired'Excellence Revive (Investissementd'Avenir;
   ANR-10-LABX-73). We thank Vincent Mouly (INSERM U 787, Paris), Nicolas
   Char let (IGBMC, Illkirch), and Genevieve Gourdon (INSERM U781, Paris)
   for helpful contributions and critical reviews of the manuscript.
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NR 53
TC 7
Z9 7
U1 0
U2 1
PU CELL PRESS
PI CAMBRIDGE
PA 50 HAMPSHIRE ST, FLOOR 5, CAMBRIDGE, MA 02139 USA
EI 2589-0042
J9 ISCIENCE
JI iScience
PD JAN 25
PY 2019
VL 11
BP 258
EP +
DI 10.1016/j.isci.2018.12.019
PG 32
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA HJ1RQ
UT WOS:000456942200019
PM 30639849
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Camacho, JA
   Hensellek, S
   Rougier, JS
   Blechschmidt, S
   Abriel, H
   Benndorf, K
   Zimmer, T
AF Camacho, JA
   Hensellek, S
   Rougier, JS
   Blechschmidt, S
   Abriel, H
   Benndorf, K
   Zimmer, T
TI Modulation of Nav1.5 channel function by an alternatively
   spliced sequence in the DII/DIII linker region
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID DEPENDENT SODIUM-CHANNEL; ISOFORM-SPECIFIC MANNER; DORSAL-ROOT GANGLIA;
   GATED NA+ CHANNELS; ALPHA-SUBUNIT; BRUGADA-SYNDROME; RAT-BRAIN;
   CALMODULIN BINDS; XENOPUS OOCYTES; HUMAN HEART
AB In the present study, we identified a novel splice variant of the human cardiac Na+ channel Na(v)1.5 (Na(v)1.5d), in which a 40-amino acid sequence of the DII/DIII intracellular linker is missing due to a partial deletion of exon 17. Expression of Na(v)1.5d occurred in embryonic and adult hearts of either sex, indicating that the respective alternative splicing is neither age-dependent nor gender-specific. In contrast, Na(v)1.5d was not detected in the mouse heart, indicating that alternative splicing of Na(v)1.5 is species-dependent. In HEK293 cells, splice variant Na(v)1.5d generated voltage-dependent Na+ currents that were markedly reduced compared with wild-type Na(v)1.5. Experiments with mexiletine and 8-bromo-cyclic AMP suggested that the trafficking of Na(v)1.5d channels was not impaired. However, single-channel recordings showed that the whole-cell current reduction was largely due to a significantly reduced open probability. Additionally, steady-state activation and inactivation were shifted to depolarized potentials by 15.9 and 5.1 mV, respectively. Systematic mutagenesis analysis of the spliced region provided evidence that a short amphiphilic region in the DII/DIII linker resembling an S4 voltage sensor of voltage-gated ion channels is an important determinant of Na(v)1.5 channel gating. Moreover, the present study identified novel short sequence motifs within this amphiphilic region that specifically affect the voltage dependence of steady-state activation and inactivation and current amplitude of human Na(v)1.5.
C1 Univ Jena, Inst Physiol 2, D-07740 Jena, Germany.
   Univ Lausanne, Dept Pharmacol & Toxicol, CH-1005 Lausanne, Switzerland.
   Univ Hosp, Serv Cardiol, CH-1005 Lausanne, Switzerland.
C3 Friedrich Schiller University of Jena; University of Lausanne;
   University of Lausanne; Centre Hospitalier Universitaire Vaudois (CHUV)
RP Univ Jena, Inst Physiol 2, Kollegiengasse 9, D-07743 Jena, Germany.
EM Thomas.Zimmer@mti.uni-jena.de
RI Rougier, Jean-Sébastien/AAX-5038-2021; Abriel, Hugues/B-9800-2009
OI Benndorf, Klaus/0000-0002-0707-4083; ROUGIER,
   Jean-Sebastien/0000-0002-8710-0260; Abriel, Hugues/0000-0003-0465-5138
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NR 44
TC 28
Z9 36
U1 0
U2 0
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD APR 7
PY 2006
VL 281
IS 14
BP 9498
EP 9506
DI 10.1074/jbc.M509716200
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 027HB
UT WOS:000236404700060
PM 16469732
OA hybrid
DA 2025-04-10
ER

PT J
AU Zhang, J
   Zhang, H
   Ayaz-Guner, S
   Chen, YC
   Dong, XT
   Xu, QG
   Ge, Y
AF Zhang, Jiang
   Zhang, Han
   Ayaz-Guner, Serife
   Chen, Yi-Chen
   Dong, Xintong
   Xu, Qingge
   Ge, Ying
TI Phosphorylation, but Not Alternative Splicing or Proteolytic
   Degradation, Is Conserved in Human and Mouse Cardiac Troponin T
SO BIOCHEMISTRY
LA English
DT Article
ID ELECTRON-CAPTURE DISSOCIATION; TANDEM MASS-SPECTROMETRY; NH2-TERMINAL
   VARIABLE REGION; KINASE-C PHOSPHORYLATION; CHARGED PROTEIN CATIONS;
   GAS-PHASE CLEAVAGE; TOP-DOWN; SKELETAL-MUSCLE; POSTTRANSLATIONAL
   MODIFICATIONS; CONTRACTILE DYSFUNCTION
AB Cardiac troponin T (cTnT), the tropomyosin binding subunit of the troponin complex, plays a pivotal regulatory role in the Ca2+-mediated interaction between actin thin filament and myosin thick filament. The post-translational modifications (PTMs) and alternative splicing of cTnT may represent important regulatory mechanisms of cardiac contractility. However, a complete characterization of PTMs and alternatively spliced isoforms in cTnT present in vivo is lacking. Top-down protein mass spectrometry (MS) analyzes whole proteins, thus providing a global view of all types of modifications, including PTMs and sequence variants, simultaneously in one spectrum without a priori knowledge. In this study, we applied an integrated immunoaffinity chromatography and top-down MS approach to comprehensively characterize PTMs and alternatively spliced isoforms of cTnT purified from healthy human and wild-type mouse heart tissue. High-resolution Fourier transform MS revealed that human cTnT (hcTnT) and mouse cTnT (mcTnT),have similar phosphorylation patterns, whereas higher molecular heterogeneity was observed for mcTnT than hcTnT. Further MS/MS fragmentation of monophosphorylated hcTnT and mcTnT by electron capture dissociation and collisionally activated dissociation unambiguously identified Ser1 as the conserved in vivo phosphorylation site. In contrast, we identified a single spliced isoform for hcTnT but three alternatively spliced isoforms for mcTnT. Moreover, we observed distinct proteolytic degradation products for hcTnT and mcTnT. This study also demonstrates the advantage of top-down MS/MS with complementary fragmentation techniques for the identification of modification sites in the highly acidic N-terminal region of cTnT.
C1 [Zhang, Jiang; Zhang, Han; Ayaz-Guner, Serife; Chen, Yi-Chen; Dong, Xintong; Xu, Qingge; Ge, Ying] Univ Wisconsin, Sch Med & Publ Hlth, Human Prote Program, Madison, WI 53706 USA.
   [Zhang, Jiang] Univ Wisconsin, Sch Pharm, Madison, WI 53706 USA.
   [Xu, Qingge; Ge, Ying] Univ Wisconsin, Dept Cell & Regenerat Biol, Sch Med & Publ Hlth, Madison, WI 53706 USA.
C3 University of Wisconsin System; University of Wisconsin Madison;
   University of Wisconsin System; University of Wisconsin Madison;
   University of Wisconsin System; University of Wisconsin Madison
RP Ge, Y (corresponding author), Univ Wisconsin, Sch Med & Publ Hlth, Human Prote Program, 1300 Univ Ave,SMI 130, Madison, WI 53706 USA.
EM ge2@wisc.edu
RI Zhang, Jiang/D-1136-2015; Dong, Xintong/GLT-3015-2022; Ayaz-Guner,
   Serife/K-4139-2019
OI AYAZ GUNER, SERIFE/0000-0002-1052-0961; Dong,
   Xintong/0000-0002-6887-8712
FU Wisconsin Partnership Fund for a Healthy Future; American Heart
   Association
FX Financial support was kindly provided by the Wisconsin Partnership Fund
   for a Healthy Future and an American Heart Association Scientist
   Development Grant (to Y.G.).
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NR 64
TC 29
Z9 32
U1 0
U2 6
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0006-2960
J9 BIOCHEMISTRY-US
JI Biochemistry
PD JUL 12
PY 2011
VL 50
IS 27
BP 6081
EP 6092
DI 10.1021/bi2006256
PG 12
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 788FK
UT WOS:000292430600012
PM 21639091
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Agarkova, I
   Auerbach, D
   Ehler, E
   Perriard, JC
AF Agarkova, I
   Auerbach, D
   Ehler, E
   Perriard, JC
TI A novel marker for vertebrate embryonic heart, the EH-myomesin isoform
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID SARCOMERIC M-BAND; SKELETAL-MUSCLE; IMMUNOELECTRON MICROSCOPY; DILATED
   CARDIOMYOPATHY; GENE-EXPRESSION; MYOSIN-BINDING; M-PROTEIN; TITIN;
   ELASTICITY; CELLS
AB Myomesin is a structural component of the M-band that is expressed in all types of striated muscle. Its primary function may be the maintenance of the thick filament lattice and its anchoring to the elastic filament system composed of titin. Different myomesin isoforms have been described in chicken and mice, but no particular function has been assigned to them. Here we investigate the spatio-temporal expression pattern of myomesin isoforms by means of reverse transcriptase-polymerase chain reaction and isoform-specific antibodies. We find that two alternative splicing events give rise to four myomesin isoforms in chicken contrary to only one splicing event with two possible isoforms in mice. A splicing event at the C terminus results in two splice variants termed H-myomesin and S-myomesin, which represent the major myomesin species in heart and skeletal muscle of avian species, respectively. In contrast, in mammalian heart and skeletal muscle only S-myomesin is expressed. In embryonic heart of birds and mammals, alternative splicing in the central part of the molecule gives rise to the isoform that we termed EH-myomesin. It represents the major myomesin isoform at early embryonic stages of heart but is rapidly down-regulated around birth. Thus, the strict developmental regulation of the EH-myomesin makes it an ideally suited marker for embryonic heart.
C1 Swiss Fed Inst Technol, Inst Cell Biol, CH-8093 Zurich, Switzerland.
C3 Swiss Federal Institutes of Technology Domain; ETH Zurich
RP Swiss Fed Inst Technol, Inst Cell Biol, CH-8093 Zurich, Switzerland.
EM jcp@cell.biol.ethz.ch
RI Agarkova, Irina/AAG-2153-2019
OI Ehler, Elisabeth/0000-0001-5646-5964
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NR 49
TC 67
Z9 73
U1 0
U2 0
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD APR 7
PY 2000
VL 275
IS 14
BP 10256
EP 10264
DI 10.1074/jbc.275.14.10256
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 302BT
UT WOS:000086345600052
PM 10744711
OA hybrid
DA 2025-04-10
ER

PT J
AU Stefancsik, R
   Randall, JD
   Mao, CJ
   Sarkar, S
AF Stefancsik, R
   Randall, JD
   Mao, CJ
   Sarkar, S
TI Structure and sequence of the human fast skeletal troponin T (TNNT3)
   gene: insight into the evolution of the gene and the origin of the
   developmentally regulated isoforms
SO COMPARATIVE AND FUNCTIONAL GENOMICS
LA English
DT Article
DE human fast skeletal troponin T (TNNT3) gene; structure and sequence of
   TNNT3; promoter and cis elements of TNNT3; alternative and constitutive
   splicing of exons; foetal exon; evolution of TNNT3 gene; muscle-specific
   splicing enhancer; exon shuffling
ID COMPLETE NUCLEOTIDE-SEQUENCE; CHROMOSOME 11P15.5; SINGLE-GENE;
   HYPERTROPHIC CARDIOMYOPATHY; CAENORHABDITIS-ELEGANS; CYTOSINE
   METHYLATION; ALPHA-TROPOMYOSIN; ALTERNATIVE EXON; CPG ISLANDS; MUSCLE
AB We describe the cloning, sequencing and structure of the human fast skeletal troponin T (TNNT3) gene located on chromosome 11p15.5. The single-copy gene encodes 19 exons and 18 introns. Eleven of these exons, 1-3, 9-15 and 18, are constitutively spliced, whereas exons 4-8 are alternatively spliced. The gene contains an additional subset of developmentally regulated and alternatively spliced exons, including a foetal exon located between exon 8 and 9 and exon 16 or et (adult) and 17 or P (foetal and neonatal). Exon phasing suggests that the majority of the alternatively spliced exons located at the 5' end of the gene may have evolved as a result of exon shuffling, because they are of the same phase class. In contrast, the 3' exons encoding an evolutionarily conserved heptad repeat domain, shared by both TnT and troponin I (Tnl), may be remnants of an ancient ancestral gene. The sequence of the 5' flanking region shows that the putative promoter contains motifs including binding sites for MyoD, MEF-2 and several transcription factors which may play a role in transcriptional regulation and tissue-specific expression of TnT. The coding region of TNNT3 exhibits strong similarity to the corresponding rat sequence. However, unlike the rat TnT gene, TNNT3 possesses two repeat regions of CCA and TC. The exclusive presence of these repetitive elements in the human gene indicates divergence in the evolutionary dynamics of mammalian TnT genes. Homologous muscle-specific splicing enhancer motifs are present in the introns upstream and downstream of the foetal exon, and may play a role in the developmental pattern of alternative splicing of the gene. The genomic correlates of TNNT3 are relevant to our understanding of the evolution and regulation of expression of the gene, as well as the structure and function of the protein isoforms. The nucleotide sequence of TNNT3 has been submitted to EMBL/GenBank under Accession No. AF026276. Copyright (C) 2003 John Wiley Sons, Ltd.
C1 Tufts Univ, Dept Cellular Biol & Anat, Boston, MA 02111 USA.
   Tufts Univ, Sackler Sch Biomed Sci, Grad Program Cell Mol & Dev Biol, Boston, MA 02111 USA.
   Tufts Univ, Sch Vet Med, Dept Biomed Sci, Boston, MA 02111 USA.
C3 Tufts University; Tufts University; Tufts University
RP Sarkar, S (corresponding author), Tufts Univ, Dept Cellular Biol & Anat, Hlth Sci Campus,136 Harrison Ave M&V 519, Boston, MA 02111 USA.
EM satyapriyo.sarkar@tufts.edu
OI Stefancsik, Ray/0000-0001-8314-2140
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NR 55
TC 18
Z9 28
U1 0
U2 6
PU HINDAWI PUBLISHING CORP
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 1531-6912
EI 1532-6268
J9 COMP FUNCT GENOM
JI Compar. Funct. Genom.
PD DEC
PY 2003
VL 4
IS 6
BP 609
EP 625
DI 10.1002/cfg.343
PG 17
WC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
   Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
   Genetics & Heredity
GA 761RH
UT WOS:000187926900004
PM 18629027
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Xiao, QZ
   Huang, ZK
   Shen, YW
   Gan, Y
   Wang, Y
   Gong, SH
   Lu, YS
   Luo, X
   You, WW
   Ke, CH
AF Xiao, Qizhen
   Huang, Zekun
   Shen, Yawei
   Gan, Yang
   Wang, Yi
   Gong, Shihai
   Lu, Yisha
   Luo, Xuan
   You, Weiwei
   Ke, Caihuan
TI Transcriptome analysis reveals the molecular mechanisms of heterosis on
   thermal resistance in hybrid abalone
SO BMC GENOMICS
LA English
DT Article
DE Heterosis; Abalone; Heat stress; Transcriptome; Alternative splicing;
   Non-additive expression
ID NF-KAPPA-B; SCAVENGER RECEPTOR; GROWTH HETEROSIS; HEAT-STRESS;
   EXPRESSION; INSIGHTS; MAIZE; PHAGOCYTOSIS; ENVIRONMENTS; PERFORMANCE
AB Background Heterosis has been exploited for decades in different animals and crops due to it resulting in dramatic increases in yield and adaptability. Hybridization is a classical breeding method that can effectively improve the genetic characteristics of organisms through heterosis. Abalone has become an increasingly economically important aquaculture resource with high commercial value. However, due to changing climate, abalone is now facing serious threats of high temperature in summer. Interspecific hybrid abalone (Haliotis gigantea female x H. discus hannai male, SD) has been cultured at large scale in southern China and has been shown high survival rates under heat stress in summer. Therefore, SD has become a good model material for heterosis research, but the molecular basis of heterosis remains elusive. Results Heterosis in thermal tolerance of SD was verified through Arrhenius break temperatures (ABT) of cardiac performance in this study. Then RNA-Sequencing was conducted to obtain gene expression patterns and alternative splicing events at control temperature (20 degrees C) and heat stress temperature (30 degrees C). A total of 356 (317 genes), 476 (435genes), and 876 (726 genes) significantly diverged alternative splicing events were identified in H. discus hannai (DD), H. gigantea (SS), and SD in response to heat stress, respectively. In the heat stress groups, 93.37% (20,512 of 21,969) of the expressed genes showed non-additive expression patterns, and over-dominance expression patterns of genes account for the highest proportion (40.15%). KEGG pathway enrichment analysis showed that the overlapping genes among common DEGs and NAGs were significantly enriched in protein processing in the endoplasmic reticulum, mitophagy, and NF-kappa B signaling pathway. In addition, we found that among these overlap genes, 39 genes had undergone alternative splicing events in SD. These pathways and genes may play an important role in the thermal resistance of hybrid abalone. Conclusion More alternative splicing events and non-additive expressed genes were detected in hybrid under heat stress and this may contribute to its thermal heterosis. These results might provide clues as to how hybrid abalone has a better physiological regulation ability than its parents under heat stress, to increase our understanding of heterosis in abalone.
C1 [Xiao, Qizhen; Huang, Zekun; Shen, Yawei; Gan, Yang; Wang, Yi; Gong, Shihai; Lu, Yisha; Luo, Xuan; You, Weiwei; Ke, Caihuan] Xiamen Univ, Coll Ocean & Earth Sci, State Key Lab Marine Environm Sci, Xiamen 361102, Peoples R China.
   [Xiao, Qizhen; Huang, Zekun; Shen, Yawei; Gan, Yang; Wang, Yi; Gong, Shihai; Lu, Yisha; Luo, Xuan; You, Weiwei; Ke, Caihuan] Xiamen Univ, Fujian Key Lab Genet & Breeding Marine Organisms, Xiamen 361102, Peoples R China.
C3 Xiamen University; Xiamen University
RP You, WW; Ke, CH (corresponding author), Xiamen Univ, Coll Ocean & Earth Sci, State Key Lab Marine Environm Sci, Xiamen 361102, Peoples R China.; You, WW; Ke, CH (corresponding author), Xiamen Univ, Fujian Key Lab Genet & Breeding Marine Organisms, Xiamen 361102, Peoples R China.
EM wwyou@xmu.edu.cn; chke@xmu.edu.cn
RI Huang, Zekun/KSM-9603-2024; Shen, Yawei/AAQ-3161-2021; Ke,
   CH/G-4635-2010
OI Shen, Yawei/0000-0002-7539-4388; Huang, Ze kun/0000-0001-9499-0954;
   Xiao, Qizhen/0009-0005-7423-0970
FU National Key Research and Development Program of China [2018YFD0901401];
   National Natural Science Foundation of China [31872564, 31802294]; Key S
   & T Program of Fujian Province [2019 N0001, 2020NZ08003]; Tianjin Seed
   Industry Science and Technology Major Project [19ZXZYSN00080]; China
   Agriculture Research System of MOF and MARA
FX This work was supported by grants from National Key Research and
   Development Program of China (2018YFD0901401), National Natural Science
   Foundation of China (No. 31872564 and 31802294); Key S & T Program of
   Fujian Province (No. 2019 N0001 and 2020NZ08003); Tianjin Seed Industry
   Science and Technology Major Project (Grant No. 19ZXZYSN00080); and
   China Agriculture Research System of MOF and MARA.
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NR 78
TC 31
Z9 32
U1 8
U2 67
PU BMC
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-2164
J9 BMC GENOMICS
JI BMC Genomics
PD SEP 8
PY 2021
VL 22
IS 1
AR 650
DI 10.1186/s12864-021-07954-y
PG 14
WC Biotechnology & Applied Microbiology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biotechnology & Applied Microbiology; Genetics & Heredity
GA UP7BY
UT WOS:000695532800001
PM 34496767
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU De Maeyer, JH
   Aerssens, J
   Verhasselt, P
   Lefebvre, RA
AF De Maeyer, Joris H.
   Aerssens, Jeroen
   Verhasselt, Peter
   Lefebvre, Romain A.
TI Alternative splicing and exon duplication generates 10 unique porcine
   5-HT4 receptor splice variants including a functional
   homofusion variant
SO PHYSIOLOGICAL GENOMICS
LA English
DT Article
DE 7 transmembrane receptor; 9 transmembrane receptor; pig; G
   protein-coupled receptor; 5-hydroxytryptamine
ID CENTRAL-NERVOUS-SYSTEM; HUMAN 5-HT4 RECEPTOR; PHARMACOLOGICAL
   CHARACTERIZATION; CONSTITUTIVE ACTIVITY; COMPARATIVE MAP;
   5-HYDROXYTRYPTAMINE; EXPRESSION; SEROTONIN; CLONING; PROTEIN
AB 5-HT(4) receptors are present in human and porcine atrial myocytes while they are absent from the hearts of small laboratory animals. The pig is therefore the only available nonprimate animal model in which to study cardiac 5-HT(4) receptor function under physiological conditions. While several human splice variants of the 5-HT(4) receptor have been described, the splicing behavior of this receptor in porcine tissue is currently unknown. Here we report on the identification of nine novel COOH-terminal splice variants of the porcine 5-HT(4) receptor, which were named 5-HT(4(b2, j, k, l, m, o, p, q, r)). The internal h-variant was found in combination with several COOH-terminal exons. In addition, splice variants were found that comprised duplicated exons fused to the common region of the 5-HT(4) receptor, thereby providing evidence for a duplication of the porcine HTR4 gene. One of these variants putatively encoded a nine transmembrane-spanning domain homofusion receptor, 5-HT(4(9TM)); also the other variants with a duplicated region might translate into functional, transcriptionally fused dimeric 5-HT(4) receptor variants. The elucidation of the genomic context confirmed that the variants were not genomic artefacts but originated from alternative splicing. This was further corroborated by a functional analysis of the variants 5-HT(4(a)), 5-HT(4(r)), and 5-HT(4(9TM)). To our knowledge, our data are the first to report on a functional GPCR with more than seven predicted transmembrane domains. These findings urge for caution when interpreting data on 5-HT(4) receptor-related pharmacology obtained in the pig; validation at the molecular level might be needed before extrapolating results to human.
C1 [De Maeyer, Joris H.; Lefebvre, Romain A.] Univ Ghent, Sch Med, Heymans Inst Pharmacol, B-9000 Ghent, Belgium.
   [De Maeyer, Joris H.; Aerssens, Jeroen] Johnson & Johnson Pharmaceut Res & Dev, Dept Internal Med, Beerse, Belgium.
   [Verhasselt, Peter] Johnson & Johnson Pharmaceut Res & Dev, Dept Funct Genom, Beerse, Belgium.
C3 Ghent University; Johnson & Johnson; Janssen Pharmaceuticals; Johson &
   Johnson Belgium; Johnson & Johnson; Janssen Pharmaceuticals; Johson &
   Johnson Belgium
RP De Maeyer, JH (corresponding author), Movetis NV, Veedijk 58 1004, B-2300 Turnhout, Belgium.
EM joris.demaeyer@movetis.com
OI De Maeyer, Joris H./0000-0002-3574-6158; Aerssens,
   Jeroen/0000-0002-9254-4800
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NR 42
TC 15
Z9 15
U1 0
U2 4
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 1094-8341
J9 PHYSIOL GENOMICS
JI Physiol. Genomics
PD JUN 12
PY 2008
VL 34
IS 1
BP 22
EP 33
DI 10.1152/physiolgenomics.00038.2008
PG 12
WC Cell Biology; Genetics & Heredity; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Genetics & Heredity; Physiology
GA 314OT
UT WOS:000256819400004
PM 18430808
DA 2025-04-10
ER

PT J
AU Tian, YF
   Liao, IH
   Zhan, XH
   Gunther, JR
   Ander, BP
   Liu, DZ
   Lit, L
   Jickling, GC
   Corbett, BA
   Bos-Veneman, NGP
   Hoekstra, PJ
   Sharp, FR
AF Tian, Yingfang
   Liao, Isaac H.
   Zhan, Xinhua
   Gunther, Joan R.
   Ander, Bradley P.
   Liu, Dazhi
   Lit, Lisa
   Jickling, Glen C.
   Corbett, Blythe A.
   Bos-Veneman, Netty G. P.
   Hoekstra, Pieter J.
   Sharp, Frank R.
TI Exon Expression and Alternatively Spliced Genes in Tourette Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE Tourette Syndrome; gene expression profiling; exon expression profiles;
   alternative splicing; blood biomarker
ID BLOOD MONONUCLEAR-CELLS; ISCHEMIC-STROKE; MESSENGER-RNA; TIC SEVERITY;
   BRAIN; MICROARRAY; DISEASE; MODEL; MECHANISMS; BIOMARKERS
AB Tourette Syndrome (TS) is diagnosed based upon clinical criteria including motor and vocal tics. We hypothesized that differences in exon expression and splicing might be useful for pathophysiology and diagnosis. To demonstrate exon expression and alternatively spliced gene differences in blood of individuals with TS compared to healthy controls (HC), RNA was isolated from the blood of 26 un-medicated TS subjects and 23 HC. Each sample was run on Affymetrix Human Exon 1.0 ST (HuExon) arrays and on 3' biased U133 Plus 2.0 (HuU133) arrays. To investigate the differentially expressed exons and transcripts, analyses of co-variance (ANCOVA) were performed, controlling for age, gender, and batch. Differential alternative splicing patterns between TS and HC were identified using analyses of variance (ANOVA) models in Partek. Three hundred and seventy-six exon probe sets were differentially expressed between TS and HC (raw P < 0.005, fold change >vertical bar 1.2 vertical bar) that separated TS and HC subjects using hierarchical clustering and Principal Components Analysis. The probe sets predicted TS compared to HC with a > 90% sensitivity and specificity using a 10-fold cross-validation. Ninety genes (transcripts) had differential expression of a single exon (raw P < 0.005) and were predicted to be alternatively spliced (raw P < 0.05) in TS compared to HC. These preliminary findings might provide insight into the pathophysiology of TS and potentially provide prognostic and diagnostic biomarkers. However, the findings are tempered by the small sample size and multiple comparisons and require confirmation using PCR or deep RNA sequencing and a much larger patient population. (C) 2010 Wiley-Liss, Inc.
C1 [Tian, Yingfang; Liao, Isaac H.; Zhan, Xinhua; Gunther, Joan R.; Ander, Bradley P.; Liu, Dazhi; Lit, Lisa; Jickling, Glen C.; Sharp, Frank R.] Univ Calif Davis, Dept Neurol, MIND Inst, Sacramento, CA 95817 USA.
   [Corbett, Blythe A.] Univ Calif Davis, Dept Psychiat, MIND Inst, Sacramento, CA 95817 USA.
   [Bos-Veneman, Netty G. P.; Hoekstra, Pieter J.] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, NL-9700 AB Groningen, Netherlands.
C3 University of California System; University of California Davis;
   University of California System; University of California Davis;
   University of Groningen
RP Tian, YF (corresponding author), Univ Calif Davis, Dept Neurol, MIND Inst, 2805 50th St,Room 2434, Sacramento, CA 95817 USA.
EM yftian@ucdavis.edu
RI Hoekstra, Pieter/O-4396-2014; Liu, DaZhi/B-6850-2011; Jickling,
   Glen/J-8790-2019
OI Jickling, Glen/0000-0003-3543-0820
FU Ron and Darin Mittelstaedt [NIMH K08, MH072958]; Tourette Syndrome
   Association (TSA); M.I.N.D. Institute
FX Grant sponsor: Ron and Darin Mittelstaedt; Grant numbers: NIMH K08,
   MH072958; Grant sponsor: Tourette Syndrome Association (TSA); Grant
   sponsor: M.I.N.D. Institute.
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NR 47
TC 26
Z9 26
U1 0
U2 5
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4841
EI 1552-485X
J9 AM J MED GENET B
JI Am. J. Med. Genet. B
PD JAN
PY 2011
VL 156B
IS 1
BP 72
EP 78
DI 10.1002/ajmg.b.31140
PG 7
WC Genetics & Heredity; Psychiatry
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity; Psychiatry
GA 702JL
UT WOS:000285890300009
PM 21184586
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Rao, AN
   Campbell, HM
   Guan, XN
   Word, TA
   Wehrens, XHT
   Xia, Z
   Cooper, TA
AF Rao, Ashish N.
   Campbell, Hannah M.
   Guan, Xiangnan
   Word, Tarah A.
   Wehrens, Xander H. T.
   Xia, Zheng
   Cooper, Thomas A.
TI Reversible cardiac disease features in an inducible CUG repeat
   RNA-expressing mouse model of myotonic dystrophy
SO JCI INSIGHT
LA English
DT Article
ID 3 UNTRANSLATED REGION; CONDUCTION DEFECTS; CTG REPEAT; HEART;
   ABNORMALITIES; FIBRILLATION; INVOLVEMENT; DYSFUNCTION; PREVALENCE;
   EXPANSION
AB Myotonic dystrophy type 1 (DM1) is caused by a CTG repeat expansion in the DMPK gene. Expression of pathogenic expanded CUG repeat (CUGexp) RNA causes multisystemic disease by perturbing the functions of RNA-binding proteins, resulting in expression of fetal protein isoforms in adult tissues. Cardiac involvement affects 50% of individuals with DM1 and causes 25% of disease-related deaths. We developed a transgenic mouse model for tetracycline-inducible and heart-specific expression of human DMPK mRNA containing 960 CUG repeats. CUGexp RNA is expressed in atria and ventricles and induced mice exhibit electrophysiological and molecular features of DM1 disease, including cardiac conduction delays, supraventricular arrhythmias, nuclear RNA foci with Muscleblind protein colocalization, and alternative splicing defects. Importantly, these phenotypes were rescued upon loss of CUGexp RNA expression. Transcriptome analysis revealed gene expression and alternative splicing changes in ion transport genes that are associated with inherited cardiac conduction diseases, including a subset of genes involved in calcium handling. Consistent with RNA-Seq results, calcium-handling defects were identified in atrial cardiomyocytes isolated from mice expressing CUGexp RNA. These results identify potential tissue-specific mechanisms contributing to cardiac pathogenesis in DM1 and demonstrate the utility of reversible phenotypes in our model to facilitate development of targeted therapeutic approaches.
C1 [Rao, Ashish N.; Cooper, Thomas A.] Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA.
   [Campbell, Hannah M.; Word, Tarah A.; Wehrens, Xander H. T.; Cooper, Thomas A.] Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA.
   [Campbell, Hannah M.] Baylor Coll Med, Med Scientist Training Program, Houston, TX 77030 USA.
   [Guan, Xiangnan; Xia, Zheng] Oregon Hlth & Sci Univ, Computat Biol Program, Portland, OR 97201 USA.
   [Wehrens, Xander H. T.; Cooper, Thomas A.] Baylor Coll Med, Cardiovasc Res Inst, Houston, TX 77030 USA.
   [Xia, Zheng] Oregon Hlth & Sci Univ, Dept Mol Microbiol & Immunol, Portland, OR 97201 USA.
   [Cooper, Thomas A.] Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine; Baylor College
   of Medicine; Oregon Health & Science University; Baylor College of
   Medicine; Oregon Health & Science University; Baylor College of Medicine
RP Cooper, TA (corresponding author), Baylor Coll Med, 1 Baylor Plaza,MS BCM315, Houston, TX 77030 USA.
EM tcooper@bcm.edu
RI Wehrens, Xander/AAQ-9574-2020; Rao, Ashish/AHC-3311-2022; Guan,
   Xiangnan/AAO-7180-2020; Xia, Zheng/AAC-5360-2022; Xia, Zheng/F-6561-2014
OI Campbell, Hannah/0000-0003-4973-9503; Xia, Zheng/0000-0003-3364-8324;
   Rao, Ashish/0009-0005-1585-2307; Cooper, Thomas/0000-0002-9238-0578
FU NIH [UM1HG006348, R01DK114356, DK56338, CA125123, NIDDK-DK56338,
   NCI-CA125123, 1S10OD02346901, R01HL045565, R01AR045653, R01AR060733,
   R01HL147020, R01HL089598, R01HL091947, R01HL117641, R01HL147108,
   F30HL140782, T32HL139430-01A1]; CPRIT [RP150578, RP170719]; Dan L.
   Duncan Comprehensive Cancer Center; John S. Dunn Gulf Coast Consortium
   for Chemical Genomics; Muscular Dystrophy Association [MDA276796,
   MDA602529]; Wyck-Myotonic Dystrophy Foundation; NIH/NLM [K01LM012877];
   Medical Research Foundation of Oregon; National Heart Lung and Blood
   Institute [R01HL147108] Funding Source: NIH RePORTER
FX ECG and echocardiography studies were performed at the Mouse Metabolic
   and Phenotyping Core at Baylor College of Medicine (BCM) supported by
   funds from the NIH (UM1HG006348, R01DK114356). FISH-IF images were
   acquired in the Integrated Microscopy Core at BCM, funded by the NIH
   (DK56338, and CA125123), CPRIT (RP150578, RP170719), the Dan L. Duncan
   Comprehensive Cancer Center, and the John S. Dunn Gulf Coast Consortium
   for Chemical Genomics. RNA library preparation and next-generation
   sequencing was performed at the Genomic and RNA Profiling Core at BCM
   under the direction of core director Daniel Kraushaar, and funding
   support from NIH (NIDDK-DK56338, NCI-CA125123, and 1S10OD02346901). This
   project was funded by grants from the NIH (R01HL045565, R01AR045653,
   R01AR060733, and R01HL147020) and the Muscular Dystrophy Association
   (MDA276796 and MDA602529) to TAC and a Wyck-Myotonic Dystrophy
   Foundation predoctoral fellowship grant to ANR. XHTW was funded by
   grants from the NIH (R01HL089598, R01HL091947, R01HL117641, and
   R01HL147108), HMC was funded by NIH grant F30HL140782, and TAW was
   funded by NIH grant T32HL139430-01A1. ZX was funded by NIH/NLM grant
   K01LM012877 and the Medical Research Foundation of Oregon. We thank
   Yuriana Aguilar for assisting with preparation of the revised
   manuscript. We thank Donnie Bundman for her work on transgene
   development. We also thank members of the Cooper lab for their valuable
   discussions and help throughout the project. Images were created with
   BioRender.
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NR 74
TC 14
Z9 14
U1 0
U2 2
PU AMER SOC CLINICAL INVESTIGATION INC
PI ANN ARBOR
PA 2015 MANCHESTER RD, ANN ARBOR, MI 48104 USA
EI 2379-3708
J9 JCI INSIGHT
JI JCI Insight
PD MAR 8
PY 2021
VL 6
IS 5
AR e143465
DI 10.1172/jci.insight.143465
PG 16
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA QU6CU
UT WOS:000627368800017
PM 33497365
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Philips, AV
   Timchenko, LT
   Cooper, TA
AF Philips, AV
   Timchenko, LT
   Cooper, TA
TI Disruption of splicing regulated by a CUG-binding protein in myotonic
   dystrophy
SO SCIENCE
LA English
DT Article
ID CARDIAC TROPONIN-T; SKELETAL-MUSCLE; HYPERTROPHIC CARDIOMYOPATHY;
   ALPHA-TROPOMYOSIN; REPEAT EXPANSION; EXPRESSION; MUTATIONS; ISOFORMS;
   LENGTH; CELLS
AB Myotonic dystrophy (DM) is caused by a CTG expansion in the 3' untranslated region of the DM gene. One model of DM pathogenesis suggests that RNAs from the expanded allele create a gain-of-function mutation by the inappropriate binding of proteins to the CUG repeats. Data presented here indicate that the conserved heterogeneous nuclear ribonucleoprotein, CUG-binding protein (CUG-BP), may mediate the trans-dominant effect of the RNA. CUG-BP was found to bind to the human cardiac troponin T (cTNT) pre-messenger RNA and regulate its alternative splicing. Splicing of cTNT was disrupted in DM striated muscle and in normal cells expressing transcripts that contain CUG repeats. Altered expression of genes regulated posttranscriptionally by CUG-BP therefore may contribute to DM pathogenesis.
C1 Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
   Baylor Coll Med, Dept Med, Cardiol Sect, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine
RP Cooper, TA (corresponding author), Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
EM tcooper@bcm.tmc.edu
FU NHLBI NIH HHS [HL45565] Funding Source: Medline; NIAMS NIH HHS [AR
   44387] Funding Source: Medline
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NR 33
TC 667
Z9 765
U1 0
U2 21
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 0036-8075
J9 SCIENCE
JI Science
PD MAY 1
PY 1998
VL 280
IS 5364
BP 737
EP 741
DI 10.1126/science.280.5364.737
PG 5
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA ZL268
UT WOS:000073415600048
PM 9563950
DA 2025-04-10
ER

PT J
AU Liszewski, MK
   Atkinson, JP
AF Liszewski, MK
   Atkinson, JP
TI Membrane cofactor protein (MCP; CD46) - Isoforms differ in protection
   against the classical pathway of complement
SO JOURNAL OF IMMUNOLOGY
LA English
DT Article
ID DECAY-ACCELERATING FACTOR; CONGENITAL HEART-BLOCK; REGULATOR CD46;
   MEASLES-VIRUS; CELLS; GLYCOSYLATION; ACTIVATION; EXPRESSION; SYSTEM;
   TISSUE
AB Membrane cofactor protein (MCP; CD46) is a widely distributed C3b/C4b-binding glycoprotein that inhibits complement activation on host cells. MCP is expressed primarily as four isoforms that arise by alternative splicing of a single gene. The differences reside in the domains for O-glycosylation and cytoplasmic tails. Tissue-specific expression of isoforms and the differential processing of precursors mediated by the cytoplasmic tails suggest that isoform variations are biologically significant. The goal of these experiments was to characterize the complement inhibitory profile of the four commonly expressed isoforms. The MCP isoforms (BC) with a larger O-glycosylation domain bound C4b more efficiently than the C isoforms, which are smaller and less glycosylated in this region. Additionally, cytoprotection assays of individual clones of transfected isoforms bearing equivalent copy numbers demonstrated that the BC isoforms also provided enhanced protection in a classical pathway-mediated system and cleaved cell-bound C4b more efficiently than C isoforms. Taken together, these data demonstrate that BC isoforms preferentially protect against the classical pathway of complement. Such findings indicate a physiologic role for isoform variation and have therapeutic implications for use of MCP isoforms as complement inhibitors in such areas as xenotransplantation.
C1 WASHINGTON UNIV, SCH MED, DEPT INTERNAL MED, DIV RHEUMATOL, ST LOUIS, MO 63110 USA.
C3 Washington University (WUSTL)
OI Atkinson, John/0000-0002-2514-3441
FU NIAID NIH HHS [R01 AI37618] Funding Source: Medline
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NR 46
TC 83
Z9 94
U1 0
U2 2
PU AMER ASSOC IMMUNOLOGISTS
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0022-1767
EI 1550-6606
J9 J IMMUNOL
JI J. Immunol.
PD JUN 1
PY 1996
VL 156
IS 11
BP 4415
EP 4421
PG 7
WC Immunology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Immunology
GA UM244
UT WOS:A1996UM24400046
PM 8666815
DA 2025-04-10
ER

PT J
AU Cox, RH
   Fromme, SJ
AF Cox, Robert H.
   Fromme, Samantha J.
TI A naturally occurring truncated Cav1.2 α1-subunit inhibits
   Ca<SUP>2+</SUP> current in A7r5 cells
SO AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
LA English
DT Article
DE Cav1.2 subunits; alternative splicing; truncated Cav1.2 transcripts;
   A7r5 cells; endoplasmic reticulum
ID SMOOTH-MUSCLE-CELLS; SPONTANEOUSLY HYPERTENSIVE-RATS; CALCIUM-CHANNEL;
   SPLICE VARIANT; WISTAR-KYOTO; MESENTERIC-ARTERY; CA(V)1.2 PROTEIN;
   BLOOD-PRESSURE; EXPRESSION; SUBUNIT
AB Alternative splicing of the voltage-gated Ca2+ (Ca-V) alpha(1)-subunit adds to the functional diversity of Ca2+ channels. A variant with a 73-nt deletion in exon 15 of the Cav1.2 alpha(1)-subunit (Cav1.2 Delta 73) produced by alternative splicing that predicts a truncated protein has been described, but its function, if any, is unknown. We sought to determine if, by analogy to other truncated CaV alpha(1)-subunits, Cav1.2 Delta 73 acts as an inhibitor of wild-type Cav1.2 currents. HEK-293 cells were transfected with Cav1.2 Delta 73 in a pIRES vector with CD8 or in pcDNA3.1 with a V5/his COOH-terminal tag plus beta(2) and alpha(2)delta(1) accessory subunits and pEGFP. Production of Cav1.2 Delta 73 protein was confirmed by Western blotting and immunofluorescence. Voltage-clamp studies revealed the absence of functional channels in transfected cells. In contrast, cells transfected with full-length Cav1.2 plus accessory subunits and pEGFP exhibited robust Ca2+ currents. A7r5 cells exhibited endogenous Cav1.2-based currents that were greatly reduced (>80%) without a change in voltage-dependent activation when transfected with Cav1.2 Delta 73-IRES-CD8 compared with empty vector or pIRES-CD8 controls. Transfection of A7r5 cells with an analogous Cav2.3 Delta 73-IRES-CD8 had no effect on Ca2+ currents. Immunofluorescence showed intracellular, but not plasma membrane, localization of Cav1.2 Delta 73-V5/his, as well as colocalization with an endoplasmic reticulum marker, ER Organelle Lights. Expression of Cav1.2 Delta 73 alpha(1)-subunits in A7r5 cells inhibits endogenous Cav1.2 currents. The fact that this variant arises naturally by alternative splicing raises the possibility that it may represent a physiological mechanism to modulate Cav1.2 functional activity.
C1 [Cox, Robert H.; Fromme, Samantha J.] Main Line Hlth Syst, Lankenau Inst Med Res, Program Cardiovasc Studies, Wynnewood, PA USA.
C3 Lankenau Medical Center; Lankenau Institute for Medical Research
RP Cox, RH (corresponding author), Lankenau Inst Med Res, 100 W Lancaster Ave, Wynnewood, PA 19096 USA.
EM coxr@mlhs.org
OI Cox, Robert/0000-0001-8884-9540
FU American Heart Association Grant [0350084N]; W. W. Smith Charitable
   Trust [H0604]; National Heart, Lung, and Blood Institute [R01-HL-28476];
   American Heart Association (AHA) [0350084N] Funding Source: American
   Heart Association (AHA)
FX This work was supported in part by American Heart Association Grant
   0350084N, the W. W. Smith Charitable Trust (H0604), and National Heart,
   Lung, and Blood Institute Grant R01-HL-28476.
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NR 41
TC 4
Z9 5
U1 0
U2 3
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6143
EI 1522-1563
J9 AM J PHYSIOL-CELL PH
JI Am. J. Physiol.-Cell Physiol.
PD OCT
PY 2013
VL 305
IS 8
BP C896
EP C905
DI 10.1152/ajpcell.00217.2013
PG 10
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA 237KV
UT WOS:000325869700011
PM 23926129
OA Green Published
DA 2025-04-10
ER

PT J
AU Iwata, H
   Kitano, T
   Umetsu, K
   Yuasa, I
   Yamazaki, K
   Kemkes-Matthes, B
   Ichinose, A
AF Iwata, H.
   Kitano, T.
   Umetsu, K.
   Yuasa, I.
   Yamazaki, K.
   Kemkes-Matthes, B.
   Ichinose, A.
TI Distinct C-terminus of the B subunit of factor XIII in a
   population-associated major phenotype: the first case of complete
   allele-specific alternative splicing products in the coagulation and
   fibrinolytic systems
SO JOURNAL OF THROMBOSIS AND HAEMOSTASIS
LA English
DT Article
DE alternative splicing; complete allele specificity; isoelectric point;
   matrix-assisted laser-desorption ionization time of flight mass
   spectrometry; pheno-genotype; protein heterogeneity
ID PLASMA FACTOR-XIII; AMINO-ACID-SEQUENCE; ABO BLOOD-GROUP;
   MYOCARDIAL-INFARCTION; GENETIC-POLYMORPHISM; GAMMA-CHAIN;
   HUMAN-FIBRINOGEN; TISSUE FACTOR; PROTEIN; VARIANTS
AB Objectives: The purpose of this study was to elucidate the molecular bases of the heterogeneity of the B subunit of coagulation factor XIII (FXIII-B), classified by isoelectric focusing into its three population-associated major phenotypes. Methods and Results: By genetic sequencing and polymerase chain reaction (PCR)-restriction fragment length polymorphism analyses, a C-to-G change was identified in intron K for the Asian-associated major phenotype FXIII-B*3. A transcript containing the novel exon XII' was detected by reverse transcription PCR using hepatocyte cell lines with this allele. The exclusive existence of a novel C-terminal peptide in a homozygote of FXIII-B*3 was also detected by matrix-assisted laser-desorption ionization time of flight mass spectrometry. The FXIII-B*3 isoform had a C-terminus 15 residues longer than the other isoforms, containing two additional basic amino acids and one extra acidic amino acid. Accordingly, the C-to-G nucleotide substitution created an efficient splice acceptor AG dinucleotide, which resulted in allele-specific alternative splicing in intron K. When compared with FXIII-B*1, the third major phenotype, FXIII-B*2, had an A-to-G change in exon III, converting His95 to Arg, and a rare phenotype, FXIII-B*4, had an A-to-T change in exon VII, converting Glu368 to Val. Conclusions: We found an extremely rare event of complete allele-specific alternative splicing for FXIII-B. The FXIII-B*3 isoform had a distinct C-terminal peptide, while the FXIII-B*2 and FXIII-B*4 isoforms had His95 to Arg and Glu368 to Val substitutions, respectively, which led to differential isoelectric points of these isoforms. Such variations in the amino acid sequence of FXIII-B may have profound effects on its structure-function relationship, plasma FXIII levels, and disease susceptibility.
C1 [Iwata, H.; Ichinose, A.] Yamagata Univ, Sch Med, Dept Mol Pathobiochem, Yamagata 9909585, Japan.
   [Kitano, T.; Umetsu, K.; Yamazaki, K.] Yamagata Univ, Sch Med, Dept Expt & Forens Pathol, Yamagata 9909585, Japan.
   [Yuasa, I.] Tottori Univ, Sch Med, Dept Legal Med, Yonago, Tottori 683, Japan.
   [Kemkes-Matthes, B.] Univ Giessen Klinikum, Haemostasis Ctr, Giessen, Germany.
   [Kemkes-Matthes, B.] Marburg GmbH, Marburg, Germany.
C3 Yamagata University; Yamagata University; Tottori University; University
   Hospital of Giessen & Marburg; University Hospital of Giessen & Marburg
RP Ichinose, A (corresponding author), Yamagata Univ, Sch Med, Dept Mol Pathobiochem, 2-2-2 Iida Nishi, Yamagata 9909585, Japan.
EM aichinos@med.id.yamagata-u.ac.jp
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NR 42
TC 23
Z9 23
U1 0
U2 0
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1538-7933
EI 1538-7836
J9 J THROMB HAEMOST
JI J. Thromb. Haemost.
PD JUL
PY 2009
VL 7
IS 7
BP 1084
EP 1091
DI 10.1111/j.1538-7836.2009.03443.x
PG 8
WC Hematology; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology; Cardiovascular System & Cardiology
GA 463JA
UT WOS:000267427000007
PM 19422463
OA Bronze
DA 2025-04-10
ER

PT J
AU von der Mark, H
   Williams, I
   Wendler, O
   Sorokin, L
   von der Mark, L
   Pöschl, E
AF von der Mark, H
   Williams, I
   Wendler, O
   Sorokin, L
   von der Mark, L
   Pöschl, E
TI Alternative splice variants of α7β1 integrin
   selectively recognize different laminin isoforms
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID SKELETAL-MUSCLE; ALPHA-7-BETA-1 INTEGRIN; CYTOPLASMIC DOMAINS;
   ENDOTHELIAL-CELLS; ALPHA-5 CHAIN; EXPRESSION; RECEPTOR; BINDING; MOUSE;
   MYOBLASTS
AB The integrin a,p, occurs in several cytoplasmic (alpha(7A), alpha(7B)) and extracellular splice variants (alpha(7X1), alpha(7X2)), which are differentially expressed during development of skeletal and heart muscle. The extracellular variants result from the alternative splicing of exons X1 and X2, corresponding to a segment within the putative ligand binding domain. To study the specificity and affinity of the X1/X2 variants to different laminin isoforms, soluble alpha(7)beta(1) complexes were prepared by recombinant coexpression of the extracellular domains of the alpha- and beta-subunits. The binding of these complexes to purified ligands was measured by solid phase binding assays. Surprisingly, the alternative splice variants revealed different and specific affinities to different laminin isoforms. While the alpha(7X2) variant bound much more strongly to laminin-1 than the alpha(7X1) variant, the latter showed a high affinity binding to laminins-8 and -10/11. Laminin-2, the major laminin isoform in skeletal muscle, was recognized by both variants, whereas none of the two variants were able to interact with laminin-5. A specific blocking antibody inhibited the binding of both variants to all laminins tested, indicating the involvement of common epitopes in alpha(7X1)beta(1), and alpha(7X2)beta(1). Because laminin-8 and -10/11 as well as alpha(7X1) are expressed in developing skeletal and cardiac muscle, these findings suggest that alpha(7X1)beta(1) may represent a physiological receptor with novel specificities for laminin-8 and -10.
C1 Univ Erlangen Nurnberg, LS Expt Med, Nikolaus Fiebiger Zentrum Mol Med, D-91054 Erlangen, Germany.
   Dept Expt Med 1, D-91054 Erlangen, Germany.
   Interdisciplinary Ctr Clin Res, D-91054 Erlangen, Germany.
C3 University of Erlangen Nuremberg
EM epoeschl@molmed.uni-erlangen.de
RI Sorokin, Lev/C-2662-2014
OI Wendler, Olaf/0000-0002-5443-4889; Sorokin, Lydia/0000-0001-7704-7921
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NR 53
TC 76
Z9 86
U1 0
U2 0
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD FEB 22
PY 2002
VL 277
IS 8
BP 6012
EP 6016
DI 10.1074/jbc.M102188200
PG 5
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 524AF
UT WOS:000173989200042
PM 11744715
OA hybrid
DA 2025-04-10
ER

PT J
AU Nguyen, KV
AF Khue Vu Nguyen
TI Potential epigenomic co-management in rare diseases and epigenetic
   therapy
SO NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS
LA English
DT Article
DE Rare diseases; epigenetics; DNA methylation; histone modification; RNA
   transcripts; chromatin modification; alternative splicing; genomic
   rearrangement; antisense drugs
ID AMYLOID PRECURSOR-PROTEIN; BECKWITH-WIEDEMANN-SYNDROME; PRADER-WILLI;
   GENOMIC REARRANGEMENTS; HISTONE MODIFICATIONS; ALZHEIMER-DISEASE; DNA
   METHYLATION; HDAC INHIBITORS; GENE; MECHANISMS
AB The purpose of this review is to highlight the impact of the alternative splicing process on human disease. Epigenetic regulation determines not only what parts of the genome are expressed but also how they are spliced. The recent progress in the field of epigenetics has important implications for the study of rare diseases. The role of epigenetics in rare diseases is a key issue in molecular physiology and medicine because not only rare diseases can benefit from epigenetic research, but can also provide useful principles for other common and complex disorders such as cancer, cardiovascular, type 2 diabetes, obesity, and neurological diseases. Predominantly, epigenetic modifications include DNA methylation, histone modification, and RNA-associated silencing. These modifications in the genome regulate numerous cellular activities. Disruption of epigenetic regulation process can contribute to the etiology of numerous diseases during both prenatal and postnatal life. Here, I discuss current knowledge about this matter including some current epigenetic therapies and future directions in the field by emphasizing on the RNA-based therapy via antisense oligonucleotides to correct splicing defects.
C1 [Khue Vu Nguyen] Univ Calif San Diego, Dept Med Biochem Genet & Metab, Mitochondrial & Metab Dis Ctr, Sch Med, Bldg CTF,Room C-103,214 Dickinson St, San Diego, CA 92103 USA.
   [Khue Vu Nguyen] Univ Calif San Diego, Sch Med, Dept Pediat, La Jolla, CA USA.
C3 University of California System; University of California San Diego;
   University of California System; University of California San Diego
RP Nguyen, KV (corresponding author), Univ Calif San Diego, Dept Med Biochem Genet & Metab, Mitochondrial & Metab Dis Ctr, Sch Med, Bldg CTF,Room C-103,214 Dickinson St, San Diego, CA 92103 USA.
EM kvn006@ucsd.ed
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NR 126
TC 5
Z9 5
U1 2
U2 10
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1525-7770
EI 1532-2335
J9 NUCLEOS NUCLEOT NUCL
JI Nucleosides Nucleotides Nucleic Acids
PD OCT 3
PY 2019
VL 38
IS 10
BP 752
EP 780
DI 10.1080/15257770.2019.1594893
EA MAY 2019
PG 29
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA IN9ZB
UT WOS:000469604700001
PM 31079569
DA 2025-04-10
ER

PT J
AU Zhang, Y
   Zhang, H
   Yang, Z
   Zhang, XH
   Miao, Q
   Li, M
   Zhai, TY
   Zheng, B
   Wen, JK
AF Zhang, Yu
   Zhang, Hong
   Yang, Zhan
   Zhang, Xin-hua
   Miao, Qing
   Li, Min
   Zhai, Tian-ying
   Zheng, Bin
   Wen, Jin-kun
TI miR-155 down-regulation protects the heart from hypoxic damage by
   activating fructose metabolism in cardiac fibroblasts
SO JOURNAL OF ADVANCED RESEARCH
LA English
DT Article
DE MiR-155; Fructose metabolism; KHK-C; CircHIF1 ?; Alternative splicing
ID CELLS; INFLAMMATION; PROGRESSION; EXPRESSION; LOOP
AB Introduction: Hypoxia-inducible factor (HIF)1a has been shown to be activated and induces a glycolytic shift under hypoxic condition, however, little attention was paid to the role of HIF1a-actuated fructolysis in hypoxia-induced heart injury. Objectives: In this study, we aim to explore the molecular mechanisms of miR-155-mediated fructose metabolism in hypoxic cardiac fibroblasts (CFs). Methods: Immunostaining, western blot and quantitative real-time reverse transcription PCR (qRT-PCR) were performed to detect the expression of glucose transporter 5 (GLUT5), ketohexo kinase (KHK)-A and KHK-C in miR-155-/-and miR-155wt CFs under normoxia or hypoxia. A microarray analysis of circ RNAs was performed to identify circHIF1a. Then CoIP, RIP and mass spectrometry analysis were performed and identified SKIV2L2 (MTR4) and transformer 2 alpha (TRA2A), a member of the transformer 2 homolog family. pAd-SKIV2L2 was administrated after coronary artery ligation to investigate whether SKIV2L2 can provide a protective effect on the infarcted heart. Results: When both miR-155(-/-)and miR-155wtCFs were exposed to hypoxia for 24 h, these two cells exhibited an increased glycolysis and decreased glycogen synthesis, and the expression of KHK-A and KHK-C, the central fructose-metabolizing enzyme, was upregulated. Mechanistically, miR-155 deletion in CFs enhanced SKIV2L2 expression and its interaction with TRA2A, which suppresses the alternative splicing of HIF1apre-mRNA to form circHIF1a, and then decreased circHIF1acontributed to the activation of fructose metabolism through increasing the production of the KHK-C isoform. Finally, exogenous delivery of SKIV2L2 reduced myocardial damage in the infarcted heart. Conclusion: In this study, we demonstrated that miR-155 deletion facilitates the activation of fructose metabolism in hypoxic CFs through regulating alternative splicing of HIF1apre-mRNA and thuscircHIF1 formation. (C) 2022 The Authors. Published by Elsevier B.V. on behalf of Cairo University
C1 [Zhang, Yu; Zhang, Hong; Zhang, Xin-hua; Li, Min; Zhai, Tian-ying; Zheng, Bin; Wen, Jin-kun] Hebei Med Univ, Dept Biochem & Mol Biol, Key Lab Neural & Vasc Biol, Minist Educ, Shijiazhuang 050017, Peoples R China.
   [Zhang, Hong; Yang, Zhan] Hebei Med Univ, Dept Urol, Hosp 2, Shijiazhuang 050000, Peoples R China.
   [Miao, Qing] Hebei Med Univ, Dept Cardiovasc Med, Hosp 2, Shijiazhuang 050000, Peoples R China.
C3 Hebei Medical University; Hebei Medical University; Hebei Medical
   University
RP Zheng, B; Wen, JK (corresponding author), Hebei Med Univ, Dept Biochem & Mol Biol, Key Lab Neural & Vasc Biol, Minist Educ, Shijiazhuang 050017, Peoples R China.
EM doublezb@hebmu.edu.cn; wjk@hebmu.edu.cn
RI Zhang, Hewei/LJZ-4067-2024; Yang, Zhan/IZP-7294-2023
OI Yang, Zhan/0000-0001-7191-2910; zhang, yu/0000-0002-4296-6087
FU National Natural Science Foundation of China [81971328, 81770285,
   31871152]; Key R & D projects of Hebei Province [19277762D]; Key
   research projects of science and technology in universities of Hebei
   Province [ZD2019100]; Scientific research project of high level talents
   in universities of Hebei Province [GCC2014026]; Scientific and
   technology Research Foundation for Colleges and universities of Hebei
   Province [QN2017102]
FX This study was supported by the National Natural Science Foundation of
   China (No. 81971328; NO.81770285; NO.31871152) , Key R & D projects of
   Hebei Province (19277762D) , Key research pro jects of science and
   technology in universities of Hebei Province (ZD2019100) , Scientific
   research project of high level talents in universities of Hebei Province
   (GCC2014026) . Scientific and technology Research Foundation for
   Colleges and universities of Hebei Province (QN2017102) .
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   Zhang RN, 2014, AM J PHYSIOL-HEART C, V307, pH552, DOI 10.1152/ajpheart.00936.2013
   Zhang Y, 2017, CELL PROLIFERAT, V50, DOI 10.1111/cpr.12322
   Zhao X, 2019, INT J MOL SCI, V20, DOI 10.3390/ijms20163926
   Zhu Y, 2020, SCI ADV, V6
NR 42
TC 8
Z9 10
U1 0
U2 12
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 2090-1232
EI 2090-1224
J9 J ADV RES
JI J. Adv. Res.
PD JUL
PY 2022
VL 39
BP 103
EP 117
DI 10.1016/j.jare.2021.10.007
EA JUN 2022
PG 15
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA 2T7KD
UT WOS:000822647900006
PM 35777901
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Eisenreich, A
   Malz, R
   Pepke, W
   Ayral, Y
   Poller, W
   Schultheiss, HP
   Rauch, U
AF Eisenreich, Andreas
   Malz, Ronny
   Pepke, Wojciech
   Ayral, Yunus
   Poller, Wolfgang
   Schultheiss, Heinz-Peter
   Rauch, Ursula
TI Role of the Phosphatidylinositol 3-Kinase/Protein Kinase B Pathway in
   Regulating Alternative Splicing of Tissue Factor mRNA in Human
   Endothelial Cells
SO CIRCULATION JOURNAL
LA English
DT Article
DE Cytokines; Endothelial function; Inflammation; Kinase; Thrombosis
ID DNA TOPOISOMERASE-I; FACTOR EXPRESSION; SR PROTEINS; NUCLEAR;
   PROCOAGULABILITY; PHOSPHORYLATION; MICROPARTICLES; IRRADIATION;
   ACTIVATION; ASF/SF2
AB Background: Tissue factor (TF) is the primary initiator of blood coagulation. In response to tumor necrosis factor (TNF)-alpha human umbilical vein endothelial cells (HUVECs) express 2 TF isoforms: a soluble alternatively spliced isoform (asHTF) and membrane-bound "full length" (fl)TF. How the differential TF isoform expression is regulated is still unknown. This study compared the impact of PI3K/Akt pathway inhibition on alternative splicing of TF in HUVECs, to the influence of transcriptional regulation by inhibiting nuclear factor kappa B (NF kappa B).
   Methods and Results: The mRNA expression of TF isoforms was assessed by real-time PCR, the thrombogenic activity was measured by a chromogenic TF activity assay and the phosphorylation state of serine/arginine-rich (SR) proteins was analyzed by western blotting. Transfection of HUVECs was done 72h before the inhibition experiments were performed. PI3K/Akt pathway inhibition reduced the mRNA expression of asHTF but not flTF. Inhibition of NF kappa B reduced the expression of both isoforms. Moreover, the PI3K/Akt pathway inhibition, but not that of NF kappa B, modified the phosphorylation of the SR proteins SRp75, SRp55 and SF2/ASF. Additionally, overexpression of SF2/ASF and SRp75 influenced the differential TF-isoform expression in HUVECs.
   Conclusions: The PI3K/Akt pathway modulates alternative splicing of TF in HUVECs, distinct from transcriptional regulation. (Circ J 2009; 73: 1746-1752)
C1 [Eisenreich, Andreas; Malz, Ronny; Pepke, Wojciech; Ayral, Yunus; Poller, Wolfgang; Schultheiss, Heinz-Peter; Rauch, Ursula] Charite, Ctr Herz & Kreislaufmed, D-13353 Berlin, Germany.
C3 Berlin Institute of Health; Free University of Berlin; Humboldt
   University of Berlin; Charite Universitatsmedizin Berlin
RP Eisenreich, A (corresponding author), Charite, Ctr Herz & Kreislaufmed, Campus Benjamin Franklin, D-13353 Berlin, Germany.
EM andreas.eisenreich@charite.de
RI Schultheiss, Heinz-Peter/HMP-2467-2023; Poller, Wolfgang/AAB-2185-2021
OI Eisenreich, Andreas/0000-0001-7169-3615; Eisenreich,
   Andreas/0000-0002-0615-7901; Poller, Wolfgang/0000-0002-2805-6634
FU Deutsche Forschungsgemeinschaft (DFG) [GRK 865, SFB-TR19]
FX This work was supported by grants from the Deutsche
   Forschungsgemeinschaft (DFG) (GRK 865 to U.R. and W.P: SFB-TR19 to U.R.
   W.P. and H-P.S.).
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NR 37
TC 41
Z9 43
U1 0
U2 4
PU JAPANESE CIRCULATION SOC
PI TOYKO
PA 18TH FLOOR IMPERIAL HOTEL TOWER, 1-1-1 UCHISAIWAI-CHO CHIYODA-KU, TOYKO,
   100-0011, JAPAN
SN 1346-9843
EI 1347-4820
J9 CIRC J
JI Circ. J.
PD SEP
PY 2009
VL 73
IS 9
BP 1746
EP 1752
DI 10.1253/circj.CJ-99-0225
PG 7
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 488RA
UT WOS:000269366200031
PM 19597299
OA Bronze
DA 2025-04-10
ER

PT J
AU Zhu, CC
   Wu, JY
   Sun, H
   Briganti, F
   Meder, B
   Wei, W
   Steinmetz, LM
AF Zhu, Chenchen
   Wu, Jingyan
   Sun, Han
   Briganti, Francesca
   Meder, Benjamin
   Wei, Wu
   Steinmetz, Lars M.
TI Single-molecule, full-length transcript isoform sequencing reveals
   disease-associated RNA isoforms in cardiomyocytes
SO NATURE COMMUNICATIONS
LA English
DT Article
ID GENE; RBM20; CARDIOMYOPATHY; LANDSCAPE; EXONS
AB Alternative splicing generates differing RNA isoforms that govern phenotypic complexity of eukaryotes. Its malfunction underlies many diseases, including cancer and cardiovascular diseases. Comparative analysis of RNA isoforms at the genome-wide scale has been difficult. Here, we establish an experimental and computational pipeline that performs de novo transcript annotation and accurately quantifies transcript isoforms from cDNA sequences with a full-length isoform detection accuracy of 97.6%. We generate a searchable, quantitative human transcriptome annotation with 31,025 known and 5,740 novel transcript isoforms (http://steinmetzlab.embl.de/iBrowser/). By analyzing the isoforms in the presence of RNA Binding Motif Protein 20 (RBM20) mutations associated with aggressive dilated cardiomyopathy (DCM), we identify 121 differentially expressed transcript isoforms in 107 cardiac genes. Our approach enables quantitative dissection of complex transcript architecture instead of mere identification of inclusion or exclusion of individual exons, as exemplified by the discovery of IMMT isoforms mis-spliced by RBM20 mutations. Thereby we achieve a path to direct differential expression testing independent of an existing annotation of transcript isoforms, providing more immediate biological interpretation and higher resolution transcriptome comparisons. Alternative splicing generates RNA isoforms that contribute to phenotypic diversity. Here the authors perform single-molecule full-length RNA sequencing to identify disease-associated variant transcript isoforms.
C1 [Zhu, Chenchen; Wu, Jingyan; Sun, Han; Meder, Benjamin; Steinmetz, Lars M.] Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA.
   [Briganti, Francesca; Steinmetz, Lars M.] European Mol Biol Lab EMBL, Genome Biol Unit, Heidelberg, Germany.
   [Briganti, Francesca; Steinmetz, Lars M.] Stanford Univ, Cardiovasc Inst, Stanford, CA 94305 USA.
   [Briganti, Francesca; Steinmetz, Lars M.] Stanford Univ, Dept Med, Stanford, CA 94305 USA.
   [Briganti, Francesca] Collaborat Joint PhD Degree EMBL & Heidelberg Uni, Fac Biosci, Heidelberg, Germany.
   [Meder, Benjamin] Heidelberg Univ, Heart Ctr Heidelberg, Inst Cardiomyopathies Heidelberg ICH, Heidelberg, Germany.
   [Meder, Benjamin] DZHK German Ctr Cardiovasc Res, Partner Site Heidelberg, Heidelberg, Germany.
   [Meder, Benjamin] Heidelberg Univ, Dept Med 3, Heidelberg, Germany.
   [Wei, Wu] Univ Chinese Acad Sci, Chinese Acad Sci, Shanghai Inst Nutr & Hlth, CAS Key Lab Computat Biol, Shanghai, Peoples R China.
   [Wei, Wu] Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Ctr Biomed Informat, Shanghai Engn Res Ctr Big Data Pediat Precis Med, Shanghai, Peoples R China.
   [Wei, Wu; Steinmetz, Lars M.] Stanford Univ, Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA.
   [Steinmetz, Lars M.] DZHK German Ctr Cardiovasc Res, Partner Site EMBL Heidelberg, Heidelberg, Germany.
C3 Stanford University; European Molecular Biology Laboratory (EMBL);
   Stanford University; Stanford University; Ruprecht Karls University
   Heidelberg; German Centre for Cardiovascular Research; Ruprecht Karls
   University Heidelberg; Chinese Academy of Sciences; University of
   Chinese Academy of Sciences, CAS; Shanghai Institute of Nutrition &
   Health, CAS; Shanghai Jiao Tong University; Stanford University; German
   Centre for Cardiovascular Research
RP Steinmetz, LM (corresponding author), Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA.; Steinmetz, LM (corresponding author), European Mol Biol Lab EMBL, Genome Biol Unit, Heidelberg, Germany.; Steinmetz, LM (corresponding author), Stanford Univ, Cardiovasc Inst, Stanford, CA 94305 USA.; Steinmetz, LM (corresponding author), Stanford Univ, Dept Med, Stanford, CA 94305 USA.; Wei, W (corresponding author), Univ Chinese Acad Sci, Chinese Acad Sci, Shanghai Inst Nutr & Hlth, CAS Key Lab Computat Biol, Shanghai, Peoples R China.; Wei, W (corresponding author), Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Ctr Biomed Informat, Shanghai Engn Res Ctr Big Data Pediat Precis Med, Shanghai, Peoples R China.; Wei, W; Steinmetz, LM (corresponding author), Stanford Univ, Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA.; Steinmetz, LM (corresponding author), DZHK German Ctr Cardiovasc Res, Partner Site EMBL Heidelberg, Heidelberg, Germany.
EM wuwei@picb.ac.cn; larsms@stanford.edu
RI Briganti, Francesca/KFS-7672-2024; Wei, Wu/AAC-8285-2020
OI Wei, Wu/0000-0001-5643-8739; Briganti, Francesca/0000-0001-5738-2642;
   Steinmetz, Lars/0000-0002-3962-2865; Sun, Han/0000-0002-3390-0027
FU National Natural Science Foundation of China [81870187]; National Key
   R&D Program of China [2017YFC0908405]; Chan Zuckerberg Foundation
   [2019-202666]; Steinmetz Cardiomyopathy Fund; Walter V. and Idun Berry
   Fellowship
FX We thank Lars Velten, Aaron Brooks, Markus Grosch, Benedikt Rauscher,
   Julia Kornienko, and Sibylle Vonesch for helpful discussion and critical
   comments on the manuscript. We thank Life Science Editors for their
   editorial assistance. This study was supported by the National Natural
   Science Foundation of China (Grant No: 81870187) and National Key R&D
   Program of China (2017YFC0908405) to W.W., the Chan Zuckerberg
   Foundation (2019-202666) to L.M.S., the Steinmetz Cardiomyopathy Fund to
   L.M.S., and the Walter V. and Idun Berry Fellowship to J.W.
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NR 46
TC 22
Z9 25
U1 1
U2 6
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
EI 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD JUL 9
PY 2021
VL 12
IS 1
AR 4203
DI 10.1038/s41467-021-24484-z
PG 9
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA TK9PO
UT WOS:000674487100002
PM 34244519
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Gao, C
   Gong, JL
   Cao, NY
   Wang, YB
   Steinberg, SF
AF Gao, Chen
   Gong, Jianli
   Cao, Nancy
   Wang, Yibin
   Steinberg, Susan F.
TI Lipid-independent activation of a muscle-specific PKCa splicing variant
SO AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
LA English
DT Article
DE alternative splicing; growth signaling; lipid-dependent activation;
   protein kinase c; protein synthesis
ID PROTEIN-KINASE-C; EXPRESSION
AB Protein kinase C -a (PKCa) plays a major role in a diverse range of cellular processes. Studies to date have defined the regulatory controls and function of PKCa entirely based upon the previously annotated ubiquitously expressed prototypical isoform. From RNA-seq-based transcriptome analysis in murine heart, we identified a previously unannotated PKCa variant produced by alter-native RNA splicing. This PKCa transcript variant, which we named PKCa-novel exon (PKCa-NE), contains an extra exon between exon 16 and exon 17, and is specifically detected in adult mouse cardiac and skeletal muscle, but not other tissues; it is also detected in human hearts. This transcript variant yields a PKCa isoform with additional 16 amino acids inserted in its COOH-terminal variable region. Although the canonical PKCa enzyme is a lipid-dependent kinase, in vitro kinase assays show that PKCa-NE displays a high level of basal lipid-independent catalytic activity. Our unbiased proteomic analysis identified a specific interaction between PKCa-NE and eukaryotic elongation factor-1a (eEF1A1). Studies in cardiomyocytes link PKCa-NE expression to an increase in eEF1A1 phosphorylation and elevated protein synthesis. In summary, we have identified a previously uncharacterized muscle-specific PKCa splicing variant, PKCa-NE, with distinct biochemical properties that plays a unique role in the control of the protein synthesis machin-ery in cardiomyocytes. NEW & NOTEWORTHY PKCa is an important signaling molecule extensively studied in many cellular processes. However, no isoforms have been reported for PKCa except one prototypic isoform. Alternative mRNA splicing of Prkca gene was detected for the first time in rodent and human cardiac tissue, which can produce a previously unknown PKCa-novel exon (NE) isoform. The biochemistry and molecular effects of PKCa-NE are markedly different from PKCa wild type, suggesting potential functional di-versity of PKCa signaling in muscle.
C1 [Gao, Chen] Univ Cincinnati, Dept Pharmacol & Syst Physiol, Cincinnati, OH 45221 USA.
   [Gong, Jianli; Steinberg, Susan F.] Columbia Univ Coll Phys & Surg, Dept Pharmacol, New York, NY 10032 USA.
   [Cao, Nancy] Univ Wisconsin, Sch Med & Publ Hlth, Madison, WI USA.
   [Wang, Yibin] Duke NUS Med Sch, Signature Res Program Cardiovasc & Metab Dis, Singapore, Singapore.
C3 University System of Ohio; University of Cincinnati; Columbia
   University; University of Wisconsin System; University of Wisconsin
   Madison; National University of Singapore
RP Gao, C (corresponding author), Univ Cincinnati, Dept Pharmacol & Syst Physiol, Cincinnati, OH 45221 USA.; Steinberg, SF (corresponding author), Columbia Univ Coll Phys & Surg, Dept Pharmacol, New York, NY 10032 USA.
EM gaoc3@ucmail.uc.edu; sfs1@cumc.columbia.edu
RI Wang, Yibin/KEZ-9645-2024; Gao, Chen/KZU-1046-2024; Wang,
   Yibin/AES-4559-2022
OI Wang, Yibin/0000-0003-0852-0767
FU National Heart, Lung, and Blood Institute [4R00HL141626]
FX This study was supported in part by National Heart, Lung, and Blood
   Institute Grant 4R00HL141626 (to C. Gao) .
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NR 20
TC 0
Z9 0
U1 0
U2 0
PU AMER PHYSIOLOGICAL SOC
PI Rockville
PA 6120 Executive Blvd, Suite 600, Rockville, MD, UNITED STATES
SN 0363-6135
EI 1522-1539
J9 AM J PHYSIOL-HEART C
JI Am. J. Physiol.-Heart Circul. Physiol.
PD OCT
PY 2022
VL 323
IS 4
BP H825
EP H832
DI 10.1152/ajpheart.00304.2022
PG 8
WC Cardiac & Cardiovascular Systems; Physiology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Physiology
GA 5M3FM
UT WOS:000870985600006
PM 36112502
OA Green Published
DA 2025-04-10
ER

PT J
AU Song, MM
   Hou, W
   Ul Mustafa, A
   Li, PP
   Lei, JZ
   Zhou, YY
   Ji, L
   Sun, Y
   Zhou, HM
   Xu, YY
   Wang, JJ
AF Song, Miaomiao
   Hou, Wei
   Ul Mustafa, Atta
   Li, Pengpeng
   Lei, Jianzhen
   Zhou, Yingying
   Ji, Li
   Sun, Yu
   Zhou, Hongmei
   Xu, Yinyan
   Wang, Juejin
TI Diminished Rbfox1 increases vascular constriction by dynamically
   regulating alternative splicing of CaV1.2 calcium channel in
   hypertension
SO CLINICAL SCIENCE
LA English
DT Article
ID VARIANT SPECIFIC MODULATION; SMOOTH-MUSCLE; MYOGENIC TONE; CA2+
   CHANNELS; EXON 33; HEART; HYPERTROPHY; EXPRESSION; ARTERIES; WINDOW
AB Calcium influx from depolarized Ca(V)1.2 calcium channels triggers the contraction of vascular smooth muscle cells (VSMCs), which is important for maintaining vascular myogenic tone and blood pressure. The function of Ca(V)1.2 channel can be subtly modulated by alternative splicing (AS), and its aberrant splicing involves in the pathogenesis of multiple cardiovascular diseases. The RNA-binding protein Rbfox1 is reported to regulate the AS events of Ca(V)1.2 channel in the neuronal development, but its potential roles in vascular Ca(V)1.2 channels and vasoconstriction remain undefined. Here, we detect Rbfox1 is expressed in rat vascular smooth muscles. Moreover, the protein level of Rbfox1 is dramatically decreased in the hypertensive small arteries from spontaneously hypertensive rats in comparison with normotensive ones from Wistar-Kyoto rats. In VSMCs, Rbfox1 could dynamically regulate the AS of Ca(V)1.2 exons 9* and 33. By whole-cell patch clamp, we identify knockdown of Rbfox1 induces the hyperpolarization of Ca(V)1.2 current-voltage relationship curve in VSMCs. Furthermore, siRNA-mediated knockdown of Rbfox1 increases the K+-induced constriction of rat mesenteric arteries. In summary, our results indicate Rbfox1 modulates vascular constriction by dynamically regulating Ca(V)1.2 alternative exons 9* and 33. Therefore, our work elucidates the underlying mechanisms for Ca(V)1.2 channels regulation and provides a potential therapeutic target for hypertension.
C1 [Song, Miaomiao; Hou, Wei; Ul Mustafa, Atta; Li, Pengpeng; Lei, Jianzhen; Zhou, Yingying; Ji, Li; Sun, Yu; Wang, Juejin] Nanjing Med Univ, Dept Physiol, Key Lab Cardiovasc Dis & Mol Intervent, Nanjing, Jiangsu, Peoples R China.
   [Zhou, Hongmei] Shanghai Jiao Tong Univ, Sch Med, Dept Cardiol, Renji Hosp, Shanghai, Peoples R China.
   [Xu, Yinyan] Nanjing Med Univ, Nanjing Matern & Child Hlth Care Hosp, Womens Hosp, Dept Pharm, Nanjing, Jiangsu, Peoples R China.
C3 Nanjing Medical University; Shanghai Jiao Tong University; Nanjing
   Medical University
RP Wang, JJ (corresponding author), Nanjing Med Univ, Dept Physiol, Key Lab Cardiovasc Dis & Mol Intervent, Nanjing, Jiangsu, Peoples R China.; Zhou, HM (corresponding author), Shanghai Jiao Tong Univ, Sch Med, Dept Cardiol, Renji Hosp, Shanghai, Peoples R China.; Xu, YY (corresponding author), Nanjing Med Univ, Nanjing Matern & Child Hlth Care Hosp, Womens Hosp, Dept Pharm, Nanjing, Jiangsu, Peoples R China.
EM 36207863@qq.com; xuyinyan937@126.com; juejinwang@njmu.edu.cn
RI Wang, Jun/A-7261-2013
OI , Juejin/0000-0003-4921-5451
FU National Natural Science Foundation of China [31871149, 81900373];
   Natural Science Foundation of Jiangsu Province [BK20171482]; Qing Lan
   Project of Jiangsu Province - Priority Academic Program Development of
   Jiangsu Higher Education Institutions (PAPD)
FX This work was supported by the National Natural Science Foundation of
   China [grant numbers 31871149 and 81900373]; the Natural Science
   Foundation of Jiangsu Province [grant number BK20171482]; Qing Lan
   Project of Jiangsu Province (to J.W.); and a project funded by the
   Priority Academic Program Development of Jiangsu Higher Education
   Institutions (PAPD).
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NR 43
TC 7
Z9 7
U1 13
U2 22
PU PORTLAND PRESS LTD
PI LONDON
PA 1ST FLR, 10 QUEEN STREET PLACE, LONDON, ENGLAND
SN 0143-5221
EI 1470-8736
J9 CLIN SCI
JI Clin. Sci.
PD JUN
PY 2022
VL 136
IS 11
BP 803
EP 817
DI 10.1042/CS20220226
PG 15
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA 7U8YF
UT WOS:000912411600001
PM 35543237
OA hybrid
DA 2025-04-10
ER

PT J
AU Cao, TX
   Akhter, S
   Jin, JP
AF Cao, Tianxin
   Akhter, Shirin
   Jin, J-P
TI Early Divergence of the C-Terminal Variable Region of Troponin T Via a
   Pair of Mutually Exclusive Alternatively Spliced Exons Followed by a
   Selective Fixation in Vertebrate Heart
SO JOURNAL OF MOLECULAR EVOLUTION
LA English
DT Article
DE C-terminal variable region of troponin T; Divergence of striated
   muscles; Molecular evolution; Selective fixation of alternative exons
ID CARDIAC TROPONIN; MONOCLONAL-ANTIBODIES; FUNCTIONAL ADAPTATION;
   ALPHA-TROPOMYOSIN; ISOFORM; EVOLUTION; MODULATION; TRANSITION;
   TRUNCATION; TOLERANCE
AB Troponin T (TnT) is the thin filament anchoring subunit of troponin complex and plays an organizer role in the Ca2+-regulation of striated muscle contraction. From an ancestral gene emerged similar to 700 million years ago in Bilateria, three homologous genes have evolved in vertebrates to encode muscle type-specific isoforms of TnT. Alternative splicing variants of TnT are present in vertebrate and invertebrate muscles to add functional diversity. While the C-terminal region of TnT is largely conserved, it contains an alternatively spliced segment emerged early in C. elegans, which has evolved into a pair of mutually exclusive exons in arthropods (10A and 10B of Drosophila TpnT gene) and vertebrates (16 and 17 of fast skeletal muscle Tnnt3 gene). The C-terminal alternatively spliced segment of TnT interfaces with the other two subunits of troponin with functional significance. The vertebrate cardiac TnT gene that emerged from duplication of the fast TnT gene has eliminated this alternative splicing by the fixation of an exon 17-like constitutive exon, indicating a functional value in slower and rhythmic contractions. The vertebrate slow skeletal muscle TnT gene that emerged from duplication of the cardiac TnT gene has the exon 17-like structure conserved, indicating its further function in sustained and fatigue resistant contractions. This functionality-based evolution is consistent with the finding that exon 10B-encoded segment of Drosophila TnT homologous to the exon 17-encoded segment of vertebrate fast TnT is selectively expressed in insect heart and leg muscles. The evolution of the C-terminal variable region of TnT demonstrates a submolecular mechanism in modifying striated muscle contractility and for the treatment of muscle and heart diseases.
C1 [Cao, Tianxin; Jin, J-P] Univ Illinois, Dept Physiol & Biophys, Coll Med, Chicago, IL 60612 USA.
   [Akhter, Shirin; Jin, J-P] Wayne State Univ, Dept Physiol, Sch Med, Detroit, MI 48201 USA.
C3 University of Illinois System; University of Illinois Chicago;
   University of Illinois Chicago Hospital; Wayne State University
RP Jin, JP (corresponding author), Univ Illinois, Dept Physiol & Biophys, Coll Med, Chicago, IL 60612 USA.; Jin, JP (corresponding author), Wayne State Univ, Dept Physiol, Sch Med, Detroit, MI 48201 USA.
EM jpjin@uic.edu
RI Cao, Tianxin/JSL-4586-2023; Jin, Jian-Ping/AAD-1149-2020
OI Jin, JP/0000-0001-9932-1063
FU National Institutes of Health [HL127691, HL138007]
FX Stephen Chong participated in this study when our research group was at
   the Evanston Northwestern Healthcare Research Institute. We thank Prof.
   Jim Lin at University of Iowa for the T12 and CH1 mAbs. This study was
   supported by grants from the National Institutes of Health (HL127691 and
   HL138007 to JPJ).
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NR 44
TC 0
Z9 1
U1 0
U2 3
PU SPRINGER
PI NEW YORK
PA ONE NEW YORK PLAZA, SUITE 4600, NEW YORK, NY, UNITED STATES
SN 0022-2844
EI 1432-1432
J9 J MOL EVOL
JI J. Mol. Evol.
PD DEC
PY 2022
VL 90
IS 6
BP 452
EP 467
DI 10.1007/s00239-022-10075-z
EA SEP 2022
PG 16
WC Biochemistry & Molecular Biology; Evolutionary Biology; Genetics &
   Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Evolutionary Biology; Genetics &
   Heredity
GA 6B5IX
UT WOS:000861124100001
PM 36171395
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Rosskopf, D
   Kielbik, M
   Manthey, I
   Bilmen, G
   Eisenhardt, A
   Siffert, W
AF Rosskopf, D
   Kielbik, M
   Manthey, I
   Bilmen, G
   Eisenhardt, A
   Siffert, W
TI Characterization of the splice variant Gβ3v of the human G-protein Gβ
   subunit
SO BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
LA English
DT Article
DE G-protein; genetic polymorphism; splice variant; signal transduction;
   pharmacogenetics
ID 825T ALLELE; GENE GNB3; C825T POLYMORPHISM; WD REPEAT; ETHNIC
   DISTRIBUTION; 3RD FORM; ASSOCIATION; HYPERTENSION; GAMMA; RISK
AB A polymorphism (C825T) in the gene of the G-protein Gbeta3 (GNB3) has been the subject of numerous studies which have shown that the 825T-allele is associated with several cardiovascular and metabolic disorders. Furthermore, the T-allele is associated with the occurrence of the splice variant Gbeta3s which has been implicated in the pathogenesis of these disorders. Here, we characterise a novel splice variant of GNB3, termed Gbeta3v, which is generated by alternative splicing of parts from intron 9 as a novel exon 10a. G proteins belong to the superfamily of propeller proteins composed of seven regular WD-domains. In Gbeta3v, four of these WD-domains are retained but the protein has a novel C terminus. Gbeta3v forms dimers with Ggamma3 and Ggamma12 but these Gbetagamma complexes do not stimulate phospholipase C-beta2. Thus, a physiological role of Gbeta3v remains to be established.
   Gbeta3v transcripts are detectable in a wide variety of cells and tissues including fibroblasts, B lymphoblasts, retinoblastoma cells, retina, brain, umbilical cord and colon. However, there is no association with an allele of the GNB3 C825T polymorphism, which suggests that Gbeta3v does not contribute to the complex phenotype observed in association with the 825T-allele. (C) 2003 Elsevier Science B.V. All rights reserved.
C1 Univ Essen Gesamthsch Klinikum, Inst Pharmakol, D-45147 Essen, Germany.
C3 University of Duisburg Essen
RP Univ Essen Gesamthsch Klinikum, Inst Pharmakol, Hufelandstr 55, D-45147 Essen, Germany.
EM dieter.rosskopf@uni-essen.de
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NR 46
TC 8
Z9 10
U1 0
U2 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0167-4781
J9 BBA-GENE STRUCT EXPR
JI Biochim. Biophys. Acta-Gene Struct. Expression
PD APR 15
PY 2003
VL 1626
IS 1-3
BP 33
EP 42
DI 10.1016/S0167-4781(03)00035-6
PG 10
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 670PY
UT WOS:000182418600005
PM 12697327
DA 2025-04-10
ER

PT J
AU Coady, TH
   Lorson, CL
AF Coady, Tristan H.
   Lorson, Christian L.
TI Trans-Splicing-Mediated Improvement in a Severe Mouse Model of
   Spinal Muscular Atrophy
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID SURVIVAL-MOTOR-NEURON; SMN2 GENE; BIFUNCTIONAL RNAS; EXPRESSION; MICE;
   MODULATION; DELIVERY; ENHANCER; DISEASE; EXON
AB Spinal muscular atrophy is a leading genetic cause of infantile death and occurs in similar to 1/6000 live births. SMA is caused by the loss of Survival Motor Neuron-1 (SMN1), however, all patients retain at least one copy of a nearly identical gene called SMN2. While SMN2 and SMN1 are comprised of identical coding sequences, the majority of SMN2 transcripts are alternatively spliced, encoding a truncated protein that is unstable and nonfunctional. Considerable effort has focused upon modulating the SMN2 alternative splicing event since this would produce more wild-type protein. Recently we reported the development of an optimized trans-splicing system that involved the coexpression of a SMN2 trans-splicing RNA and an antisense RNA that blocks a downstream splice site in SMN2 pre-mRNA. Here, we demonstrate that in vivo delivery of the optimized trans-splicing vector increases an important SMN-dependent activity, snRNP assembly, in disease-relevant tissue in the SMA mouse model. A single injection of the vector into the intracerebral-ventricular space in SMA neonates also lessens the severity of the SMA phenotype in a severe SMA mouse model, extending survival similar to 70%. Collectively, these results provide the first in vivo demonstration that SMN2 trans-splicing leads to a lessening of the severity of the SMA phenotype and provide evidence for the power of this strategy for reprogramming genetic diseases at the pre-mRNA level.
C1 [Coady, Tristan H.; Lorson, Christian L.] Univ Missouri, Dept Vet Pathobiol, Bond Life Sci Ctr, Columbia, MO 65211 USA.
C3 University of Missouri System; University of Missouri Columbia
RP Lorson, CL (corresponding author), Univ Missouri, Dept Vet Pathobiol, Life Sci Ctr, Room 471G, Columbia, MO 65211 USA.
EM lorsonc@missouri.edu
FU National Institutes of Health [R01 HD054413, R01 HS41584]
FX This work was supported by grants from the National Institutes of Health
   (R01 HD054413; R01 HS41584). We thank John Marston for expert technical
   assistance.
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NR 38
TC 78
Z9 110
U1 0
U2 4
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD JAN 6
PY 2010
VL 30
IS 1
BP 126
EP 130
DI 10.1523/JNEUROSCI.4489-09.2010
PG 5
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 540PN
UT WOS:000273347300014
PM 20053895
OA Green Accepted, Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Zhang, YH
   Cui, Y
   Zhang, XL
   Wang, YM
   Gao, JY
   Yu, T
   Lv, XY
   Pan, CY
AF Zhang, Yanghai
   Cui, Yang
   Zhang, Xuelian
   Wang, Yimin
   Gao, Jiayang
   Yu, Ting
   Lv, Xiaoyan
   Pan, Chuanying
TI Pig StAR: mRNA expression and alternative splicing in testis and Leydig
   cells, and association analyses with testicular morphology traits
SO THERIOGENOLOGY
LA English
DT Article
DE Pig; Steroidogenic acute regulatory protein (StAR); Alternative
   splicing; Genetic variants; Reproductive traits
ID LITTER SIZE; INSERTION/DELETION INDEL; PERITUBULAR CELLS;
   MALE-INFERTILITY; GROWTH TRAITS; GENE; IDENTIFICATION; POLYMORPHISM;
   GOAT; EXON
AB Steroidogenic acute regulatory protein (StAR), primarily expressed in Leydig cells (LCs) in the mammalian testes, is essential for testosterone biosynthesis and male fertility. However, no previous reports have explored the expression profiles, alternative splicing and genetic variations of StAR gene in pig. The aim of current study was to explore the expression profiles in different tissues and different types of testicular cells (LCs; spermatogonial stem cells, SSCs; Sertoli cells, SCs), to identify different splice variants and their expression levels, as well as to detect the indel polymorphism in pig StAR gene. Expression analysis results revealed that StAR was widely expressed in all tested tissues and the expression level in testis was significantly higher than that in other tissues (P < 0.01); among different types of testicular cells, the StAR mRNA expression level was significantly higher in LCs than others (P < 0.05). Furthermore, three splice variants, StAR-a, StAR-b and StAR-c, were first found in pig. Further study showed StAR-a was highly expressed in both testis and LCs when compared with other variants (P < 0.01), suggesting StAR-a was the primary variant at StAR gene post-transcription and may facilitate the combination and transportation of cholesterol with StAR. In addition, a 5-bp duplicated deletion (NC_010457.5:g.5524-5528 deIACTTG) was verified in the porcine StAR gene, which was closely related to male testicular morphology traits (P < 0.05), and we speculated that the allele "D" of StAR gene might be a positive allele. Briefly, the current findings suggest that StAR and StAR-a play imperative roles in male fertility and the 5-bp indel can be a potential DNA marker for the marker-assisted selection in boar. (C) 2018 Elsevier Inc. All rights reserved.
C1 [Zhang, Yanghai; Cui, Yang; Zhang, Xuelian; Wang, Yimin; Gao, Jiayang; Yu, Ting; Pan, Chuanying] Northwest A&F Univ, Coll Anim Sci & Technol, Yangling 712100, Shaanxi, Peoples R China.
   [Lv, Xiaoyan] Natl Swine Fdn Seed Farm Ankang Yangchen Modern A, Ankang 725000, Shaanxi, Peoples R China.
C3 Northwest A&F University - China
RP Pan, CY (corresponding author), Northwest A&F Univ, Coll Anim Sci & Technol, Yangling 712100, Shaanxi, Peoples R China.
EM panyu1980@126.com
RI pan, chuanying/AAM-7092-2021; Zhang, Xuelian/KFA-9179-2024
FU Provincial Key Projects of Shaanxi [2017NY-064]; Northwest A&F
   University Student's Innovation and Entrepreneurship Training Program
   [1201610712021]
FX This work was supported by the Provincial Key Projects of Shaanxi
   (2017NY-064) and Northwest A&F University Student's Innovation and
   Entrepreneurship Training Program (1201610712021).
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NR 62
TC 12
Z9 17
U1 0
U2 22
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0093-691X
EI 1879-3231
J9 THERIOGENOLOGY
JI Theriogenology
PD SEP 15
PY 2018
VL 118
BP 46
EP 56
DI 10.1016/j.theriogenology.2018.05.031
PG 11
WC Reproductive Biology; Veterinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Reproductive Biology; Veterinary Sciences
GA GS3PI
UT WOS:000443531600008
PM 29883844
DA 2025-04-10
ER

PT J
AU Hale, MA
   Richardson, JI
   Day, RC
   McConnell, OL
   Arboleda, J
   Wang, ET
   Berglund, JA
AF Hale, Melissa A.
   Richardson, Jared I.
   Day, Ryan C.
   McConnell, Ona L.
   Arboleda, Juan
   Wang, Eric T.
   Berglund, J. Andrew
TI An engineered RNA binding protein with improved splicing regulation
SO NUCLEIC ACIDS RESEARCH
LA English
DT Article
ID PRE-MESSENGER-RNA; EXPANDED-REPEAT TRANSCRIPTS; MYOTONIC-DYSTROPHY
   TYPE-1; CARDIAC TROPONIN-T; MUSCLEBLIND PROTEINS; MBNL PROTEINS; ZINC
   FINGERS; NUCLEAR FOCI; IN-VIVO; DISEASE
AB The muscleblind-like (MBNL) family of proteins are key developmental regulators of alternative splicing. Sequestration of MBNL proteins by expanded CUG/CCUG repeat RNA transcripts is a major pathogenic mechanism in the neuromuscular disorder myotonic dystrophy (DM). MBNL1 contains four zinc finger (ZF) motifs that form two tandem RNA binding domains (ZF1-2 and ZF3-4) which each bind YGCY RNA motifs. In an effort to determine the differences in function between these domains, we designed and characterized synthetic MBNL proteins with duplicate ZF1-2 or ZF3-4 domains, referred to as MBNL-AA and MBNL-BB, respectively. Analysis of splicing regulation revealed that MBNL-AA had up to 5-fold increased splicing activity while MBNL-BB had 4-fold decreased activity compared to a MBNL protein with the canonical arrangement of zinc finger domains. RNA binding analysis revealed that the variations in splicing activity are due to differences in RNA binding specificities between the two ZF domains rather than binding affinity. Our findings indicate that ZF1-2 drives splicing regulation via recognition of YGCY RNA motifs while ZF3-4 acts as a general RNA binding domain. Our studies suggest that synthetic MBNL proteins with improved or altered splicing activity have the potential to be used as both tools for investigating splicing regulation and protein therapeutics for DM and other microsatellite diseases.
C1 [Hale, Melissa A.; Richardson, Jared I.; Day, Ryan C.; Berglund, J. Andrew] Univ Florida, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA.
   [Hale, Melissa A.; Richardson, Jared I.; Day, Ryan C.; McConnell, Ona L.; Arboleda, Juan; Wang, Eric T.; Berglund, J. Andrew] Univ Florida, Ctr NeuroGenet, Gainesville, FL 32610 USA.
   [McConnell, Ona L.; Arboleda, Juan; Wang, Eric T.] Univ Florida, Dept Mol Genet & Microbiol, Gainesville, FL 32610 USA.
C3 State University System of Florida; University of Florida; State
   University System of Florida; University of Florida; State University
   System of Florida; University of Florida
RP Berglund, JA (corresponding author), Univ Florida, Dept Biochem & Mol Biol, Gainesville, FL 32610 USA.; Berglund, JA (corresponding author), Univ Florida, Ctr NeuroGenet, Gainesville, FL 32610 USA.
EM aberglund@ufl.edu
RI Berglund, Andrew/AAS-1065-2021; wang, eric/LKM-0410-2024
OI Wang, Eric/0000-0003-2655-5525; Arboleda, Juan/0000-0003-2454-9607; ,
   Melissa A Hale/0009-0001-5850-3095
FU University of Florida (UF); National Institutes of Health [GM121862,
   OD017865]; Rosaria Haugland Graduate Research Fellowship; Promise to
   Kate Graduate Research Fellowship; UF startup funds
FX University of Florida (UF) [to J.A.B. and E.T.W.]; National Institutes
   of Health [GM121862 to J.A.B., OD017865 to E.T.W.]; Rosaria Haugland
   Graduate Research Fellowship [to M.A.H.]; Promise to Kate Graduate
   Research Fellowship [to M.A.H.]. Funding for open access charge: UF
   startup funds.
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NR 61
TC 15
Z9 19
U1 0
U2 5
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0305-1048
EI 1362-4962
J9 NUCLEIC ACIDS RES
JI Nucleic Acids Res.
PD APR 6
PY 2018
VL 46
IS 6
BP 3152
EP 3168
DI 10.1093/nar/gkx1304
PG 17
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA GB4DA
UT WOS:000429009500038
PM 29309648
OA Green Published, gold, Green Submitted
DA 2025-04-10
ER

PT J
AU Li, F
   Xiong, YY
   Yang, M
   Chen, PL
   Zhang, JK
   Wang, Q
   Xu, M
   Wang, YM
   He, ZY
   Zhao, X
   Huang, JY
   Gu, XQ
   Zhang, L
   Sun, R
   Sun, XS
   Li, JY
   Ou, JX
   Xu, T
   Huang, XY
   Cao, YG
   Xu, XHR
   Karakas, D
   Li, JN
   Ni, HY
   Zhang, Q
AF Li, Fei
   Xiong, Yuanyan
   Yang, Mo
   Chen, Peiling
   Zhang, Jingkai
   Wang, Qiong
   Xu, Miao
   Wang, Yiming
   He, Zuyong
   Zhao, Xin
   Huang, Junyu
   Gu, Xiaoqiong
   Zhang, Li
   Sun, Rui
   Sun, Xunsha
   Li, Jingyao
   Ou, Jinxin
   Xu, Ting
   Huang, Xueying
   Cao, Yange
   Xu, Xiaohong Ruby
   Karakas, Danielle
   Li, June
   Ni, Heyu
   Zhang, Qing
TI c-Mpl-del, a c-Mpl alternative splicing isoform, promotes AMKL
   progression and chemoresistance
SO CELL DEATH & DISEASE
LA English
DT Article
ID ACUTE MEGAKARYOCYTIC LEUKEMIA; ACUTE MYELOID-LEUKEMIA; ACUTE
   MEGAKARYOBLASTIC LEUKEMIA; HEMATOPOIETIC STEM-CELLS; ERYTHROPOIETIN
   RECEPTOR; THROMBOPOIETIN RECEPTOR; IDENTIFICATION; MUTATIONS; OUTCOMES;
   VARIANT
AB Acute megakaryocytic leukemia (AMKL) is a clinically heterogeneous subtype of acute myeloid leukemia characterized by unrestricted megakaryoblast proliferation and poor prognosis. Thrombopoietin receptor c-Mpl is a primary regulator of megakaryopoeisis and a potent mitogenic receptor. Aberrant c-Mpl signaling has been implicated in a myriad of myeloid proliferative disorders, some of which can lead to AMKL, however, the role of c-Mpl in AMKL progression remains largely unexplored. Here, we identified increased expression of a c-Mpl alternative splicing isoform, c-Mpl-del, in AMKL patients. We found that c-Mpl-del expression was associated with enhanced AMKL cell proliferation and chemoresistance, and decreased survival in xenografted mice, while c-Mpl-del knockdown attenuated proliferation and restored apoptosis. Interestingly, we observed that c-Mpl-del exhibits preferential utilization of phosphorylated c-Mpl-del C-terminus Y607 and biased activation of PI3K/AKT pathway, which culminated in upregulation of GATA1 and downregulation of DDIT3-related apoptotic responses conducive to AMKL chemoresistance and proliferation. Thus, this study elucidates the critical roles of c-Mpl alternative splicing in AMKL progression and drug resistance, which may have important diagnostic and therapeutic implications for leukemia accelerated by c-Mpl-del overexpression.
C1 [Li, Fei; Xiong, Yuanyan; Chen, Peiling; Zhang, Jingkai; Wang, Qiong; He, Zuyong; Zhao, Xin; Huang, Junyu; Li, Jingyao; Ou, Jinxin; Xu, Ting; Huang, Xueying; Cao, Yange; Zhang, Qing] Sun Yat Sen Univ, Sch Life Sci, State Key Lab Biocontrol, Guangzhou, Peoples R China.
   [Yang, Mo] Sun Yat Sen Univ, Affiliated Hosp 7, Shenzhen, Peoples R China.
   [Wang, Qiong; Zhang, Qing] Inst Sun Yat Sen Univ Shenzhen, Shenzhen, Peoples R China.
   [Xu, Miao; Wang, Yiming; Xu, Xiaohong Ruby; Karakas, Danielle; Li, June; Ni, Heyu] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada.
   [Xu, Miao; Wang, Yiming; Xu, Xiaohong Ruby; Karakas, Danielle; Li, June; Ni, Heyu] Univ Toronto, Keenan Res Ctr Biomed Sci, Dept Lab Med, St Michaels Hosp, Toronto, ON, Canada.
   [Xu, Miao; Wang, Yiming; Xu, Xiaohong Ruby; Karakas, Danielle; Li, June; Ni, Heyu] Univ Toronto, Toronto Platelet Immunobiol Grp, Toronto, ON, Canada.
   [Wang, Yiming; Li, June; Ni, Heyu] Canadian Blood Serv Ctr Innovat, Toronto, ON, Canada.
   [Gu, Xiaoqiong; Zhang, Li] Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou Inst Pediat, Dept Blood Transfus Clin Biol Resource Bank & Cli, Guangzhou, Peoples R China.
   [Sun, Rui] Sun Yat Sen Univ, State Key Lab Oncol South China, Canc Ctr, Guangzhou, Peoples R China.
   [Sun, Xunsha] Sun Yat Sen Univ, Affiliated Hosp 1, Natl Key Clin Dept, Guangzhou, Peoples R China.
   [Sun, Xunsha] Sun Yat Sen Univ, Affiliated Hosp 1, Key Discipline Neurol, Guangzhou, Peoples R China.
   [Ni, Heyu] Univ Toronto, Dept Physiol, Toronto, ON, Canada.
C3 Sun Yat Sen University; Sun Yat Sen University; University of Toronto;
   University of Toronto; Saint Michaels Hospital Toronto; University of
   Toronto; Canadian Blood Services; Guangzhou Medical University; Sun Yat
   Sen University; State Key Lab Oncology South China; Sun Yat Sen
   University; Sun Yat Sen University; University of Toronto
RP Zhang, Q (corresponding author), Sun Yat Sen Univ, Sch Life Sci, State Key Lab Biocontrol, Guangzhou, Peoples R China.; Zhang, Q (corresponding author), Inst Sun Yat Sen Univ Shenzhen, Shenzhen, Peoples R China.
EM lsszq@mail.sysu.edu.cn
RI Li, June/JEF-1173-2023; Zhang, Jingkai/MBG-7900-2025; Zhao,
   Xinguo/T-1846-2019; He, Zuyong/AAU-9430-2021
OI Li, Fei/0000-0002-8472-8191; Li, Fei/0009-0004-7499-7197
FU National Natural Science Foundation of China [81601004, 31771273,
   82273467]; Guangdong Province of China [2021A1515011209]; Research Funds
   for the Shenzhen of China [JCYJ20210324120812035]; Canadian Institutes
   of Health Research [389035, 119540]
FX We appreciate the contributions of Guangheng Zhu (technical assistance)
   at the University of Toronto, and Tianming Li (critical review) at Sun
   Yat-sen University. This work was supported by National Natural Science
   Foundation of China (No. 31771273 and 82273467), Guangdong Province of
   China grant (No. 2021A1515011209), and Research Funds for the Shenzhen
   of China (No. JCYJ20210324120812035). Dr. Xunsha Sun was funded by
   National Natural Science Foundation of China (No. 81601004). Dr. Heyu Ni
   was funded by Canadian Institutes of Health Research (Project grant MOP#
   119540) and the Canadian Institutes of Health Research (foundation grant
   MOP# 389035).
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NR 56
TC 4
Z9 4
U1 3
U2 27
PU SPRINGERNATURE
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON, N1 9XW, ENGLAND
SN 2041-4889
J9 CELL DEATH DIS
JI Cell Death Dis.
PD OCT 13
PY 2022
VL 13
IS 10
AR 869
DI 10.1038/s41419-022-05315-5
PG 12
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 5H5BN
UT WOS:000867694100003
PM 36229456
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Larsson, L
   Wang, X
   Yu, F
   Höök, P
   Borg, K
   Chong, SM
   Jin, JP
AF Larsson, Lars
   Wang, Xin
   Yu, Fushun
   Hook, Peter
   Borg, Kristian
   Chong, Stephen M.
   Jin, J. -P.
TI Adaptation by alternative RNA splicing of slow troponin T isoforms in
   type 1 but not type 2 Charcot-Marie-Tooth disease
SO AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
LA English
DT Article
DE muscle adaptation; demyelination; force and velocity
ID NH2-TERMINAL VARIABLE REGION; SINGLE MUSCLE-FIBERS; COMPLETE
   NUCLEOTIDE-SEQUENCE; GLU(180) NONSENSE MUTATION; HUMAN CARDIAC TROPONIN;
   STRUCTURAL ORGANIZATION; DILATED CARDIOMYOPATHY; CONTRACTILE PROPERTIES;
   MONOCLONAL-ANTIBODIES; NEMALINE MYOPATHY
AB Slow troponin T (TnT) plays an indispensable role in skeletal muscle function. Alternative RNA splicing in the NH2-terminal region produces high-molecular-weight (HMW) and low-molecular-weight (LMW) isoforms of slow TnT. Normal adult slow muscle fibers express mainly HMW slow TnT. Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral polyneuropathies caused by various neuronal defects. We found in the present study that LMW slow TnT was significantly upregulated in demyelination form type 1 CMT (CMT1) but not axonal form type 2 CMT (CMT2) muscles. Contractility analysis showed an increased specific force in single fibers isolated from CMT1 but not CMT2 muscles compared with control muscles. However, an in vitro motility assay showed normal velocity of the myosin motor isolated from CMT1 and CMT2 muscle biopsies, consistent with their unchanged myosin isoform contents. Supporting a role of slow TnT isoform regulation in contractility change, LMW and HMW slow TnT isoforms showed differences in the molecular conformation in conserved central and COOH-terminal regions with changed binding affinity for troponin I and tropomyosin. In addition to providing a biochemical marker for the differential diagnosis of CMT, the upregulation of LMW slow TnT isoforms under the distinct pathophysiology of CMT1 demonstrates an adaptation of muscle function to neurological disorders by alternative splicing modification of myofilament proteins.
C1 [Wang, Xin; Chong, Stephen M.; Jin, J. -P.] Evanston Northwestern Healthcare, Sect Mol Cardiol, Evanston, IL 60201 USA.
   [Wang, Xin; Chong, Stephen M.; Jin, J. -P.] Northwestern Univ, Feinberg Sch Med, Evanston, IL 60201 USA.
   [Larsson, Lars; Yu, Fushun; Hook, Peter] Uppsala Univ, Dept Neurosci Clin Neurophysiol, Uppsala, Sweden.
   [Larsson, Lars; Yu, Fushun] Penn State Univ, Ctr Dev & Hlth Genet, University Pk, PA USA.
   [Borg, Kristian] Danderyd Hosp, Karolinska Inst, Dept Clin Sci, Div Rehabil Med, Stockholm, Sweden.
C3 NorthShore University Health System; Northwestern University; Feinberg
   School of Medicine; Uppsala University; Pennsylvania Commonwealth System
   of Higher Education (PCSHE); Pennsylvania State University; Pennsylvania
   State University - University Park; Penn State Behrend; Danderyds
   Hospital; Karolinska Institutet
RP Jin, JP (corresponding author), Evanston Northwestern Healthcare, Sect Mol Cardiol, Evanston, IL 60201 USA.
EM jpjin@northwestern.edu
RI Larsson, Lars/AAY-1347-2021; Jin, Jian-Ping/AAD-1149-2020
OI Larsson, Lars/0000-0003-3722-035X; Jin, JP/0000-0001-9932-1063
FU National Institutes of Health [AR-048816, HD-044824, AR-45627, AR-47318]
FX This work was supported in part by National Institutes of Health Grants
   AR-048816 and HD-044824 (to J.- P. Jin) and AR-45627 and AR-47318 (to L.
   Larsson).
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NR 53
TC 15
Z9 16
U1 0
U2 2
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6143
EI 1522-1563
J9 AM J PHYSIOL-CELL PH
JI Am. J. Physiol.-Cell Physiol.
PD SEP
PY 2008
VL 295
IS 3
BP C722
EP C731
DI 10.1152/ajpcell.00110.2008
PG 10
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA 345KJ
UT WOS:000258995000016
PM 18579801
OA Green Published
DA 2025-04-10
ER

PT J
AU Wielowieyski, PA
   Wigle, JT
   Salih, M
   Hum, P
   Tuana, BS
AF Wielowieyski, PA
   Wigle, JT
   Salih, M
   Hum, P
   Tuana, BS
TI Alternative splicing in intracellular loop connecting domains II and III
   of the α1 subunit of Cav1.2 Ca<SUP>2+</SUP>
   channels predicts two-domain polypeptides with unique C-terminal tails
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID MUSCLE DIHYDROPYRIDINE RECEPTOR; PRESYNAPTIC CALCIUM-CHANNELS;
   PROTEIN-INTERACTION SITE; SKELETAL-MUSCLE; T-TYPE; IMMUNOCHEMICAL
   IDENTIFICATION; DIFFERENTIAL PHOSPHORYLATION; MOLECULAR
   CHARACTERIZATION; RELEASE CHANNEL; EXONS 40-42
AB Novel splice variants of the Lu, subunit of the Ca(v)1.2 voltage-gated Ca2+ channel were identified that predicted two truncated forms of the or, subunit comprising domains I and II generated by alternative splicing in the intracellular loop region linking domains II and III. In rabbit heart splice variant 1 (RH-1), exon 19 was deleted, which resulted in a reading frameshift of exon 20 with a premature termination codon and a novel 19-amino acid carboxyl-terminal tail. In the RH-2 variant, exons 17 and 18 were deleted, leading to a reading frameshift of exons 19 and 20 with a premature stop codon and a novel 62-amino acid carboxyl-terminal tail. RNase protection assays with RH-1 and RH-2 cRNA probes confirmed the expression in cardiac and neuronal tissue but not skeletal muscle. The deduced amino acid sequence from full-length cDNAs encoding the two variants predicted polypeptides of 99.0 and 99.2 kDa, which constituted domains I and II of the alpha (1), subunit of the Ca(v)1.2 channel. Antipeptide antibodies directed to sequences in the second intracellular loop between domains II and III identified the 240-kDa Ca(v)1.2 subunit in sarcolemmal and heavy sarcoplasmic reticulum (HSR) membranes and a 99-kDa polypeptide in the HSR, An antipeptide antibody raised against unique sequences in the RH-2 variant also identified a 99-kDa polypeptide in the HSR. These data reveal the expression of additional Ca2+ channel structural units generated by alternative splicing of the Ca(v)1.2 gene.
C1 Univ Ottawa, Dept Cellular & Mol Med, Ottawa, ON K1H 8M5, Canada.
C3 University of Ottawa
RP Univ Ottawa, Dept Cellular & Mol Med, 451 Smyth Rd, Ottawa, ON K1H 8H5, Canada.
RI Wigle, Jeffrey/G-2005-2014
OI Wigle, Jeffrey/0000-0002-4985-7684
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NR 70
TC 27
Z9 30
U1 0
U2 1
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI ROCKVILLE
PA 11200 ROCKVILLE PIKE, SUITE 302, ROCKVILLE, MD, UNITED STATES
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD JAN 12
PY 2001
VL 276
IS 2
BP 1398
EP 1406
DI 10.1074/jbc.M006868200
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 392UL
UT WOS:000166430900073
PM 11010971
OA hybrid
DA 2025-04-10
ER

PT J
AU Martens, MD
   Field, JT
   Seshadri, N
   Day, C
   Chapman, D
   Keijzer, R
   Doucette, CA
   Hatch, GM
   West, AR
   Ivanco, TL
   Gordon, JW
AF Martens, Matthew D.
   Field, Jared T.
   Seshadri, Nivedita
   Day, Chelsea
   Chapman, Donald
   Keijzer, Richard
   Doucette, Christine A.
   Hatch, Grant M.
   West, Adrian R.
   Ivanco, Tammy L.
   Gordon, Joseph W.
TI Misoprostol attenuates neonatal cardiomyocyte proliferation through
   Bnip3, perinuclear calcium signaling, and inhibition of glycolysis
SO JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
LA English
DT Article
DE Hypoxia; Bnip3; Proliferation; Calcium signaling; Glycolysis;
   Cardiomyocyte
ID CELL-DEATH; CARDIAC MORPHOGENESIS; CA2+ INDICATORS; CALCINEURIN;
   MITOCHONDRIA; CYCLE; MEF2; EXPRESSION; APOPTOSIS; GROWTH
AB Systemic hypoxia resulting from preterm birth, altered lung development, and cyanotic congenital heart disease is known to impede the regulatory and developmental pathways in the neonatal heart. While the molecular mechanisms are still unknown, hypoxia induces aberrant cardiomyocyte proliferation, which may be initially adaptive, but can ultimately program the heart to fail in early life. Recent evidence suggests that the prostaglandin E1 analogue, misoprostol, is cytoprotective in the hypoxia-exposed neonatal heart by impacting alternative splicing of the Bcl-2 family member Bnip3, resulting in the generation of a variant lacking the third exon (Bnip3 Delta Exon3 or small Nip; sNip). Using a rodent model of neonatal hypoxia, in combination with rat primary neonatal cardiomyocytes (PVNCs) and H9c2 cells, we sought to determine if misoprostol can prevent cardiomyocyte proliferation and what the key molecular mechanisms might be in this pathway. In PVNCs, exposure to 10% oxygen induced myocyte proliferation concurrent with molecular markers of cell-cycle progression, such as Cyclin-D1, which were prevented by misoprostol treatment. Furthermore, we describe a critical role for sNip in opposing cardiomyocyte proliferation through several mechanisms, including reduced expression of the proliferative MEF2C-myocardin-BMP10 pathway, accumulation of nuclear calcium leading to NFATc3 activation, and increased expression of the cardiac maturation factor BMP2. Intriguingly, misoprostol and sNip inhibited hypoxia-induced glycolytic flux, which directly influenced myocyte proliferation. These observations were further supported by knockdown studies, where hypoxia-induced cardiomyocyte proliferation is restored in misoprostol-treated cells by an siRNA targeting sNip. Finally, in postnatal day (PND)-10 rat pups exposed to hypoxia, we observed histological evidence of increased nuclei number and increased PPH3 staining, which were completely attenuated by misoprostol treatment. Collectively, this data demonstrates how neonatal cardiomyocyte proliferation can be pharmacologically modulated by misoprostol treatment, which may have important implications for both neonatal and regenerative medicine.
C1 [Martens, Matthew D.; Field, Jared T.; Gordon, Joseph W.] Univ Manitoba, Dept Human Anat & Cell Sci, Winnipeg, MB, Canada.
   [Seshadri, Nivedita; Day, Chelsea; Keijzer, Richard; Doucette, Christine A.; West, Adrian R.] Univ Manitoba, Dept Physiol & Pathophysiol, Winnipeg, MB, Canada.
   [Keijzer, Richard] Univ Manitoba, Dept Surg, Winnipeg, MB, Canada.
   [Keijzer, Richard] Univ Manitoba, Dept Pediat & Child Hlth, Winnipeg, MB, Canada.
   [Hatch, Grant M.] Univ Manitoba, Dept Pharmacol & Therapeut, Winnipeg, MB, Canada.
   [Gordon, Joseph W.] Univ Manitoba, Rady Fac Hlth Sci, Coll Nursing, Winnipeg, MB, Canada.
   [Ivanco, Tammy L.] Univ Manitoba, Dept Psychol, Fac Arts, Winnipeg, MB, Canada.
   [Martens, Matthew D.; Field, Jared T.; Seshadri, Nivedita; Chapman, Donald; Doucette, Christine A.; Hatch, Grant M.; Gordon, Joseph W.] Univ Manitoba, Diabet Res Envisioned & Accomplished Manitoba DRE, Winnipeg, MB, Canada.
   [Day, Chelsea; Keijzer, Richard; West, Adrian R.] Univ Manitoba, Biol Breathing BoB Theme, Childrens Hosp Res Inst Manitoba, Winnipeg, MB, Canada.
C3 University of Manitoba; University of Manitoba; University of Manitoba;
   University of Manitoba; University of Manitoba; University of Manitoba;
   University of Manitoba; University of Manitoba; University of Manitoba;
   Children's Hospital Research Institute of Manitoba
RP Gordon, JW (corresponding author), Univ Manitoba, Childrens Hosp Res Inst Manitoba, Dept Human Anat & Cell Sci, Rady Fac Hlth Sci,Coll Nursing, 715 McDermot Ave, Winnipeg, MB, Canada.
EM joseph.gordon@umanitoba.ca
RI Martens, Matthew/AAV-6185-2020; Keijzer, Richard/AAA-9598-2020
OI West, Adrian/0000-0001-8079-6915; Martens, Matthew/0000-0001-9251-6693;
   Doucette, Christine/0000-0002-5070-2639
FU Natural Sciences and Engineering Research Council (NSERC) Canada
   Discovery Grant; Heart and Stroke Foundation of Canada (HSFC);
   University of Manitoba; HSFC; Children's Hospital Foundation of Manitoba
   and Research Manitoba; DEVOTION research cluster
FX This work was supported by a Natural Sciences and Engineering Research
   Council (NSERC) Canada Discovery Grant and a Heart and Stroke Foundation
   of Canada (HSFC) Grant-in-Aid to J.W.G. T.L.I. is funded through the
   SFRG and UCRP programs from the University of Manitoba. G.M.H is
   supported by a HSFC grant. G.M.H is a Canada Research Chair in
   Cardiolipin Metabolism. J.W.G., G.M.H, R.K., and A.R.W. are members of
   the DEVOTION Research Cluster. M.D.M., J.T.F., N.S. and C.D. are
   supported by studentships from the Children's Hospital Foundation of
   Manitoba and Research Manitoba, M.D.M. received support from the
   DEVOTION research cluster. This work was conducted at the Children's
   Hospital Research Institute of Manitoba.
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NR 51
TC 10
Z9 10
U1 0
U2 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0022-2828
EI 1095-8584
J9 J MOL CELL CARDIOL
JI J. Mol. Cell. Cardiol.
PD SEP
PY 2020
VL 146
BP 19
EP 31
DI 10.1016/j.yjmcc.2020.06.010
PG 13
WC Cardiac & Cardiovascular Systems; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Cell Biology
GA NR3MD
UT WOS:000571466000003
PM 32640283
OA hybrid
DA 2025-04-10
ER

PT J
AU Chen, XR
   Yang, HR
   Zhang, SR
   Wang, Z
   Ye, F
   Liang, CZ
   Wang, HZ
   Fang, ZY
AF Chen, Xueran
   Yang, Haoran
   Zhang, Shangrong
   Wang, Zhen
   Ye, Fang
   Liang, Chaozhao
   Wang, Hongzhi
   Fang, Zhiyou
TI A novel splice variant of supervillin, SV5, promotes carcinoma cell
   proliferation and cell migration
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE Supervillin; Alternative splicing; Cell proliferation; Cell migration
ID MYOSIN-II ACTIVATION; F-ACTIN; ISOFORM; BINDING; PROTEIN; CANCER;
   CONTRACTILITY; CYTOSKELETON; CYTOKINESIS; ARCHVILLIN
AB Supervillin is an actin-associated protein that regulates actin dynamics by interacting with Myosin II, F-actin, and Cortactin to promote cell contractility and cell motility. Two splicing variants of human Supervillin (SV1 and SV4) have been reported in non-muscle cells; SV1 lacks 3 exons present in the larger isoform SV4. SV2, also called archvillin, is present in striated muscle; SV3, also called smooth muscle archvillin or SmAV, was cloned from smooth muscle. In the present study, we identify a novel splicing variant of Supervillin (SV5). SV5 contains a new splicing pattern. In the mouse tissues and cell lines examined, SV5 was predominantly expressed in skeletal and cardiac muscles and in proliferating cells, but was virtually undetectable in most normal tissues. Using RNAi and rescue experiments, we show here that SV5 displays altered functional properties in cancer cells, and regulates cell proliferation and cell migration. (C) 2016 Elsevier Inc. All rights reserved.
C1 [Chen, Xueran; Zhang, Shangrong; Wang, Zhen; Liang, Chaozhao; Wang, Hongzhi; Fang, Zhiyou] Chinese Acad Sci, Hefei Inst Phys Sci, Ctr Med Phys & Technol, 350 Shushan Hu Rd, Hefei 230031, Anhui, Peoples R China.
   [Chen, Xueran; Yang, Haoran; Ye, Fang; Wang, Hongzhi; Fang, Zhiyou] Chinese Acad Sci, Canc Hosp, 350 Shushan Hu Rd, Hefei 230031, Anhui, Peoples R China.
C3 Chinese Academy of Sciences; Hefei Institutes of Physical Science, CAS;
   Chinese Academy of Sciences
RP Fang, ZY (corresponding author), Chinese Acad Sci, Hefei Inst Phys Sci, Ctr Med Phys & Technol, 350 Shushan Hu Rd, Hefei 230031, Anhui, Peoples R China.
EM z.fang@cmpt.ac.cn
RI Chen, Xueran/AAC-2599-2019; Fang, Zhiyou/GQY-6875-2022
FU National Natural Science Foundation of China [31571433, 31501171]; Anhui
   Provincial Natural Science Foundation [1508085SMC214, 1608085MH180];
   Visiting Professorships Foundation of Hefei Institutes of Physical
   Science [Y3BZOH3058]
FX This research was supported by the National Natural Science Foundation
   of China (No. 31571433 and No. 31501171), and Anhui Provincial Natural
   Science Foundation (No. 1508085SMC214 and No. 1608085MH180), and
   partially supported by Visiting Professorships Foundation of Hefei
   Institutes of Physical Science (No. Y3BZOH3058). We thank Dr. Elizabeth
   Luna for manuscript reading and helpful discussions.
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NR 31
TC 13
Z9 14
U1 1
U2 12
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD JAN 1
PY 2017
VL 482
IS 1
BP 43
EP 49
DI 10.1016/j.bbrc.2016.11.013
PG 7
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA EI4KD
UT WOS:000392461600007
PM 27825967
DA 2025-04-10
ER

PT J
AU Gaertner, A
   Klauke, B
   Felski, E
   Kassner, A
   Brodehl, A
   Gerdes, D
   Stanasiuk, C
   Ebbinghaus, H
   Schulz, U
   Dubowy, KO
   Tiesmeier, J
   Laser, KT
   Bante, H
   Bergau, L
   Sommer, P
   Fox, H
   Morshuis, M
   Gummert, J
   Milting, H
AF Gaertner, Anna
   Klauke, Baerbel
   Felski, Elina
   Kassner, Astrid
   Brodehl, Andreas
   Gerdes, Desiree
   Stanasiuk, Caroline
   Ebbinghaus, Hans
   Schulz, Uwe
   Dubowy, Karl-Otto
   Tiesmeier, Jens
   Laser, Kai-Thorsten
   Bante, Hendrik
   Bergau, Leonard
   Sommer, Philipp
   Fox, Henrik
   Morshuis, Michiel
   Gummert, Jan
   Milting, Hendrik
TI Cardiomyopathy-associated mutations in the RS domain affect nuclear
   localization of RBM20
SO HUMAN MUTATION
LA English
DT Article
DE cardiomyopathy; mutation; pathomechanisms; RBM20; splicing
ID HEART-TRANSPLANTATION REPORT-2018; DILATED CARDIOMYOPATHY; ESC
   GUIDELINES; HYPERTROPHIC CARDIOMYOPATHY; INTERNATIONAL SOCIETY; LUNG
   TRANSPLANTATION; PROTEIN-KINASES; GENE; TITIN; PHOSPHORYLATION
AB Mutations inRBM20encoding the RNA-binding motif protein 20 (RBM20) are associated with an early onset and clinically severe forms of cardiomyopathies. Transcriptome analyses revealed RBM20 as an important regulator of cardiac alternative splicing.RBM20mutations are especially localized in exons 9 and 11 including the highly conserved arginine and serine-rich domain (RS domain). Here, we investigated in several cardiomyopathy patients, the previously described RBM20-mutation p.Pro638Leu localized within the RS domain. In addition, we identified in a patient the novel mutation p.Val914Ala localized in the (glutamate-rich) Glu-rich domain of RBM20 encoded by exon 11. Its impact on the disease was investigated with a novelTTN- andRYR2-splicing assay based on the patients' cardiac messenger RNA. Furthermore, we showed in cell culture and in human cardiac tissue that mutantRBM20-p.Pro638Leu is not localized in the nuclei but causes an abnormal cytoplasmic localization of the protein. In contrast the splicing deficientRBM20-p.Val914Ala has no influence on the intracellular localization. These results indicate that disease-associated variants inRBM20lead to aberrant splicing through different pathomechanisms dependent on the localization of the mutation. This might have an impact on the future development of therapeutic strategies for the treatment of RBM20-induced cardiomyopathies.
C1 [Gaertner, Anna; Klauke, Baerbel; Felski, Elina; Kassner, Astrid; Brodehl, Andreas; Gerdes, Desiree; Stanasiuk, Caroline; Ebbinghaus, Hans; Schulz, Uwe; Dubowy, Karl-Otto; Tiesmeier, Jens; Laser, Kai-Thorsten; Bante, Hendrik; Bergau, Leonard; Sommer, Philipp; Fox, Henrik; Morshuis, Michiel; Gummert, Jan; Milting, Hendrik] Univ Bochum, Univ Klinikum Ruhr, Herz & Diabeteszentrum NRW, Bad Oeynhausen, Germany.
   [Gaertner, Anna; Klauke, Baerbel; Felski, Elina; Kassner, Astrid; Brodehl, Andreas; Gerdes, Desiree; Stanasiuk, Caroline; Ebbinghaus, Hans; Schulz, Uwe; Tiesmeier, Jens; Fox, Henrik; Morshuis, Michiel; Gummert, Jan; Milting, Hendrik] Erich & Hanna Klessmann Inst Kardiovaskulare Fors, Klin Thorax & Kardiovaskularchirurg, Bad Oeynhausen, Germany.
   [Dubowy, Karl-Otto; Laser, Kai-Thorsten] Kinderherzzentrum & Zentrum Angeborene Herzfehler, Bad Oeynhausen, Germany.
   [Bante, Hendrik; Bergau, Leonard; Sommer, Philipp] Klin Elektrophysiol Rhythmol, Bad Oeynhausen, Germany.
C3 Ruhr University Bochum; Ruhr University Bochum
RP Gaertner, A; Milting, H (corresponding author), Ruhr Univ Bochum, Erich & Hanna Klessmann Inst, Herz & Diabeteszentrum NRW, Georgstr 11, D-32545 Bad Oeynhausen, Germany.
EM agaertner@hdz-nrw.de; hmilting@hdz-nrw.de
RI Laser, Kai/B-8698-2015; Fox, Henrik/AAG-9968-2019; Gärtner,
   Anna/X-6863-2019; Brodehl, Andreas/C-6450-2013; Bergau,
   Leonard/LRT-4028-2024
OI Gummert, Jan/0000-0002-6956-9110; Gaertner, Anna/0000-0001-6899-7693;
   Brodehl, Andreas/0000-0001-9202-2343; Bergau,
   Leonard/0000-0001-7025-9315
FU FoRUM, Ruhr-University Bochum [F842R-2015]; Erich-und Hanna Klessmann
   Stiftung; Deutsche Forschungsgemeinschaft [MI-1146/2-2]
FX FoRUM, Ruhr-University Bochum, Grant/Award Number: F842R-2015; Erich-und
   Hanna Klessmann Stiftung; Deutsche Forschungsgemeinschaft, Grant/Award
   Number: MI-1146/2-2
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NR 46
TC 25
Z9 28
U1 0
U2 6
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1059-7794
EI 1098-1004
J9 HUM MUTAT
JI Hum. Mutat.
PD NOV
PY 2020
VL 41
IS 11
BP 1931
EP 1943
DI 10.1002/humu.24096
EA SEP 2020
PG 13
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA OM2MF
UT WOS:000567414100001
PM 32840935
OA gold
DA 2025-04-10
ER

PT J
AU Coulter, LR
   Landree, MA
   Cooper, TA
AF Coulter, LR
   Landree, MA
   Cooper, TA
TI Identification of a new class of exonic splicing enhancers by in vivo
   selection
SO MOLECULAR AND CELLULAR BIOLOGY
LA English
DT Article
ID PRE-MESSENGER-RNA; IMMUNODEFICIENCY-VIRUS TYPE-1; PREMESSENGER RNA; SITE
   SELECTION; SR-PROTEINS; REGULATORY ELEMENTS; ALTERNATIVE INTRON;
   SEQUENCE ELEMENTS; GENE; BINDING
AB In vitro selection strategies have typically been used to identify a preferred ligand, usually an RNA, for an identified protein. Ideally, one would like to know RNA consensus sequences preferred in vivo for as-yet-unidentified factors. The ability to select RNA-processing signals would be particularly beneficial in the analysis of exon enhancer sequences that function in exon recognition during pre-mRNA splicing. Exon enhancers represent a class of potentially ubiquitous RNA-processing signals whose actual prevalence is unknown. To establish an approach for in vivo selection, we developed an iterative scheme to select for exon sequences that enhance exon inclusion. This approach is modeled on the in vitro SELEX procedure and uses transient transfection in an iterative procedure to enrich RNA-processing signals in cultured vertebrate cells. Two predominant sequence motifs were enriched after three rounds of selection: a purine-rich motif that resembles previously identified splicing enhancers and a class of A/C-rich splicing enhancers (ACEs). Individual selected ACEs enhanced splicing in vivo and in vitro. ACE splicing activity was competed by RNAs containing the purine-rich splicing enhancer from cardiac troponin T exon 5. Thus, ACE activity is likely to require a subset of the SR splicing factors previously shown to mediate activity of this purine-rich enhancer. ACE motifs are found in two vertebrate exons previously demonstrated to contain splicing enhancer activity as well as in the well-characterized Drosophila doublesex (dsx) splicing enhancer. We demonstrate that one copy of the dsx repeat enhances splicing of a vertebrate exon in vertebrate cells and that this enhancer activity requires the ACE motif. We suggest the possibility that the dsx enhancer is a member of a previously unrecognized family of ACEs.
C1 BAYLOR COLL MED,DEPT PATHOL,HOUSTON,TX 77030.
   BAYLOR COLL MED,CELL & MOL BIOL PROGRAM,HOUSTON,TX 77030.
C3 Baylor College of Medicine; Baylor College of Medicine
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NR 51
TC 200
Z9 242
U1 0
U2 12
PU AMER SOC MICROBIOLOGY
PI WASHINGTON
PA 1325 MASSACHUSETTS AVENUE, NW, WASHINGTON, DC 20005-4171
SN 0270-7306
J9 MOL CELL BIOL
JI Mol. Cell. Biol.
PD APR
PY 1997
VL 17
IS 4
BP 2143
EP 2150
DI 10.1128/MCB.17.4.2143
PG 8
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA WN906
UT WOS:A1997WN90600041
PM 9121463
OA Green Published
DA 2025-04-10
ER

PT J
AU Grammatikakis, I
   Goo, YH
   Echeverria, GV
   Cooper, TA
AF Grammatikakis, Ioannis
   Goo, Young-Hwa
   Echeverria, Gloria V.
   Cooper, Thomas A.
TI Identification of MBNL1 and MBNL3 domains required for splicing
   activation and repression
SO NUCLEIC ACIDS RESEARCH
LA English
DT Article
ID PRE-MESSENGER-RNA; MYOTONIC-DYSTROPHY; IN-VIVO; MUSCLEBLIND PROTEINS;
   NUCLEAR FOCI; BINDING; EXPRESSION; MODEL; EXPANSION; VARIANTS
AB Muscleblind-like 1 (MBNL1) is a splicing regulator that controls developmentally regulated alternative splicing of a large number of exons including exon 11 of the Insulin Receptor (IR) gene and exon 5 of the cardiac Troponin T (cTNT) gene. There are three paralogs of MBNL in humans, all of which promote IR exon 11 inclusion and cTNT exon 5 skipping. Here, we identify a cluster of three binding sequences located downstream of IR exon 11 that constitute the MBNL1 response element and a weaker response element in the upstream intron. In addition, we used sequential deletions to define the functional domains of MBNL1 and MBNL3. We demonstrate that the regions required for splicing regulation are separate from the two pairs of zinc-finger RNA-binding domains. MBNL1 and MBNL3 contain core regulatory regions for both activation and repression located within an 80-amino-acid segment located downstream of the N-terminal zinc-finger pair. Deletions of these regions abolished regulation without preventing RNA binding. These domains have common features with the CUG-BP and ETR3-like Factor (CELF) family of splicing regulators. These results have identified protein domains required for splicing repression and activation and provide insight into the mechanism of splicing regulation by MBNL proteins.
C1 [Grammatikakis, Ioannis; Echeverria, Gloria V.; Cooper, Thomas A.] Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA.
   [Grammatikakis, Ioannis; Cooper, Thomas A.] Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA.
   [Goo, Young-Hwa] Albany Med Coll, Ctr Cardiovasc Sci, Albany, NY 12208 USA.
   [Echeverria, Gloria V.] Baylor Coll Med, Interdept Program Cell & Mol Biol, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine; Albany Medical
   College; Baylor College of Medicine
RP Cooper, TA (corresponding author), Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA.
EM tcooper@bcm.edu
OI Echeverria, Gloria/0000-0002-3772-9298
FU National Institutes of Health [HL045565]; American Heart Association
   [0625119Y]; American Heart Association (AHA) [0625119Y] Funding Source:
   American Heart Association (AHA)
FX The National Institutes of Health (HL045565 to T. C.); and an American
   Heart Association postdoctoral fellowship (Texas Affiliate) (0625119Y to
   Y.-H.G.). Funding for open access charge: NIH HL045565.
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NR 40
TC 40
Z9 49
U1 0
U2 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0305-1048
J9 NUCLEIC ACIDS RES
JI Nucleic Acids Res.
PD APR
PY 2011
VL 39
IS 7
BP 2769
EP 2780
DI 10.1093/nar/gkq1155
PG 12
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 751OW
UT WOS:000289628400033
PM 21109529
OA Green Submitted, gold, Green Published
DA 2025-04-10
ER

PT J
AU Field, JT
   Martens, MD
   Mughal, W
   Hai, Y
   Chapman, D
   Hatch, GM
   Iyanco, TL
   Diehl-Jones, W
   Gordon, JW
AF Field, Jared T.
   Martens, Matthew D.
   Mughal, Wajihah
   Hai, Yan
   Chapman, Donald
   Hatch, Grant M.
   Iyanco, Tammy L.
   Diehl-Jones, William
   Gordon, Joseph W.
TI Misoprostol regulates Bnip3 repression and alternative splicing to
   control cellular calcium homeostasis during hypoxic stress
SO CELL DEATH DISCOVERY
LA English
DT Article
ID NF-KAPPA-B; MITOCHONDRIAL PERMEABILITY TRANSITION; TRANSCRIPTIONAL
   ACTIVITY; ENDOPLASMIC-RETICULUM; CARDIAC-HYPERTROPHY; CA2+ INDICATORS;
   PROTEIN; DEATH; APOPTOSIS; PHOSPHORYLATION
AB The cellular response to hypoxia involves the activation of a conserved pathway for gene expression regulated by the transcription factor complex called hypoxia-inducible factor (HIF). This pathway has been implicated in both the adaptive response to hypoxia and in several hypoxic-ischemic-related pathologies. Perinatal hypoxic injury, often associated with prematurity, leads to multi-organ dysfunction resulting in significant morbidity and mortality. Using a rodent model of neonatal hypoxia and several representative cell lines, we observed HIF1 alpha activation and down-stream induction of the cell death gene Bnip3 in brain, large intestine, and heart which was mitigated by administration of the prostaglandin E1 analog misoprostol. Mechanistically, we determined that misoprostol inhibits full-length Bnip3 (Bnip3-FL) expression through PKA-mediated NE-kappa B (P65) nuclear retention, and the induction of prosurvival splice variants. We observed that the dominant small pro-survival variant of Bnip3 in mouse cells lacks the third exon (Bnip3 Delta Exon3), whereas human cells produce a pro-survival BNIP3 variant lacking exon 2 (BNIP3 Delta Exon2). In addition, these small Bnip3 splice variants prevent mitochondrial dysfunction, permeability transition, and necrosis triggered by Bnip3-FL by blocking calcium transfer from the sarco/endoplasmic reticulum to the mitochondria. Furthermore, misoprostol and Bnip3 Delta Exon3 promote nuclear calcium accumulation, resulting in HDAC5 nuclear export, NFAT activation, and adaptive changes in cell morphology and gene expression. Collectively, our data suggests that misoprostol can mitigate the potential damaging effects of hypoxia on multiple cell types by activating adaptive cell survival pathways through Bnip3 repression and alternative splicing.
C1 [Field, Jared T.; Martens, Matthew D.; Mughal, Wajihah; Gordon, Joseph W.] Univ Manitoba, Dept Human Anat & Cell Sci, Winnipeg, MB, Canada.
   [Field, Jared T.; Martens, Matthew D.; Mughal, Wajihah; Hai, Yan; Chapman, Donald; Hatch, Grant M.; Iyanco, Tammy L.; Diehl-Jones, William; Gordon, Joseph W.] Res Inst Manitoba, Childrens Hosp, Winnipeg, MB, Canada.
   [Hatch, Grant M.] Univ Manitoba, Dept Pharmacol & Therapeut, Winnipeg, MB, Canada.
   [Hatch, Grant M.; Gordon, Joseph W.] Res Inst Manitoba, Childrens Hosp, Diabet Res Envisioned & Accomplished Manitoba DRE, Winnipeg, MB, Canada.
   [Iyanco, Tammy L.] Univ Manitoba, Dept Psychol, Winnipeg, MB, Canada.
   [Diehl-Jones, William] Univ Manitoba, Dept Biol Sci, Winnipeg, MB, Canada.
   [Diehl-Jones, William] Athabasca Univ, Fac Hlth Disciplines, Edmonton, AB, Canada.
   [Gordon, Joseph W.] Univ Manitoba, Coll Nursing, Winnipeg, MB, Canada.
C3 University of Manitoba; University of Manitoba; Children's Hospital
   Research Institute of Manitoba; University of Manitoba; University of
   Manitoba; Children's Hospital Research Institute of Manitoba; University
   of Manitoba; University of Manitoba; Athabasca University; University of
   Manitoba
RP Gordon, JW (corresponding author), Univ Manitoba, Dept Human Anat & Cell Sci, Winnipeg, MB, Canada.; Gordon, JW (corresponding author), Res Inst Manitoba, Childrens Hosp, Winnipeg, MB, Canada.; Gordon, JW (corresponding author), Res Inst Manitoba, Childrens Hosp, Diabet Res Envisioned & Accomplished Manitoba DRE, Winnipeg, MB, Canada.; Gordon, JW (corresponding author), Univ Manitoba, Coll Nursing, Winnipeg, MB, Canada.
EM joseph.gordon@umanitoba.ca
RI Martens, Matthew/AAV-6185-2020
OI Martens, Matthew/0000-0001-9251-6693; Gordon, Joseph/0000-0002-0061-2168
FU Natural Sciences and Engineering Research Council (NSERC) Canada;
   Children's Hospital Foundation of Manitoba; RIG grant from Athabasca
   University; SFRG program from the University of Manitoba; UCRP program
   from the University of Manitoba; Heart and Stroke Foundation of Canada;
   Research Manitoba; DEVOTION research cluster
FX This work was supported by the Natural Sciences and Engineering Research
   Council (NSERC) Canada, through a Discovery Grant to J.W.G. and a
   studentship to J.T.F. Seed funding was provided by the Children's
   Hospital Foundation of Manitoba. W.D.J. is funded by a RIG grant from
   Athabasca University and T.L.I. is funded through the SFRG and UCRP
   programs from the University of Manitoba. G.M.H. and J.W.G. are
   supported by the Heart and Stroke Foundation of Canada and are members
   of the DEVOTION Research Cluster. G.M.H. is a Canada Research Chair in
   Molecular Cardiolipin Metabolism. W.M., J.T.F., and M.D.M. are supported
   by studentships from the Children's Hospital Foundation of Manitoba and
   Research Manitoba, M.D.M. received support from the DEVOTION research
   cluster. We wish to thank Dr. Tetsuaki Miyake for the NFAT-YFP plasmid
   and Caitlin Blaney for assistance with the neonatal hypoxia model and
   misoprostol injections.
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NR 59
TC 25
Z9 25
U1 0
U2 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
EI 2058-7716
J9 CELL DEATH DISCOV
JI Cell Death Discov.
PD SEP 21
PY 2018
VL 4
AR 98
DI 10.1038/s41420-018-0104-z
PG 20
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA HR5XX
UT WOS:000463221900001
PM 30275982
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Otani-Takei, N
   Masuda, T
   Akimoto, T
   Honma, S
   Watanabe, Y
   Shiizaki, K
   Miki, T
   Kusano, E
   Asano, Y
   Kuro-o, M
   Nagata, D
AF Otani-Takei, Naoko
   Masuda, Takahiro
   Akimoto, Tetsu
   Honma, Sumiko
   Watanabe, Yuko
   Shiizaki, Kazuhiro
   Miki, Takuya
   Kusano, Eiji
   Asano, Yasushi
   Kuro-o, Makoto
   Nagata, Daisuke
TI Association between Serum Soluble Klotho Levels and Mortality in Chronic
   Hemodialysis Patients
SO INTERNATIONAL JOURNAL OF ENDOCRINOLOGY
LA English
DT Article
ID FIBROBLAST GROWTH FACTOR-23; HEALTH-CARE PROFESSIONALS; CARDIOVASCULAR
   EVENTS; PLASMA KLOTHO; OXIDATIVE STRESS; SECRETED KLOTHO; HEART-FAILURE;
   ALPHA-KLOTHO; KIDNEY; PROTEIN
AB Klotho is a single-pass transmembrane protein predominantly expressed in the kidney. The extracellular domain of Klotho is subject to ectodomain shedding and is released into the circulation as a soluble form. Soluble Klotho is also generated from alternative splicing of the Klotho gene. In mice, defects in Klotho expression lead to complex phenotypes resembling those observed in dialysis patients. However, the relationship between the level of serum soluble Klotho and overall survival in hemodialysis patients, who exhibit a state of Klotho deficiency, remains to be delineated. Here we prospectively followed a cohort of 63 patients with a mean duration of chronic hemodialysis of 6.7 +/- 5.4 years for a median of 65 months. Serum soluble Klotho was detectable in all patients (median 371 pg/mL, interquartile range 309-449). Patients with serum soluble Klotho levels below the lower quartile (<309 pg/mL) had significantly higher cardiovascular and all-cause mortality rates. Furthermore, the higher all-cause mortality persisted even after adjustment for confounders (hazard ratio 4.14, confidence interval 1.29-13.48). We conclude that there may be a threshold for the serum soluble Klotho level associated with a higher risk of mortality.
C1 [Otani-Takei, Naoko; Masuda, Takahiro; Akimoto, Tetsu; Watanabe, Yuko; Miki, Takuya; Kusano, Eiji; Nagata, Daisuke] Jichi Med Univ, Dept Internal Med, Div Nephrol, Shimotsuke, Tochigi 3290498, Japan.
   [Honma, Sumiko; Asano, Yasushi] Japanese Red Cross Koga Hosp, Dept Nephrol, Koga, Ibaraki, Japan.
   [Shiizaki, Kazuhiro; Kuro-o, Makoto] Jichi Med Univ, Ctr Mol Med, Div Antiaging Med, Shimotsuke, Tochigi 3290498, Japan.
C3 Jichi Medical University; Jichi Medical University
RP Masuda, T (corresponding author), Jichi Med Univ, Dept Internal Med, Div Nephrol, Shimotsuke, Tochigi 3290498, Japan.
EM takam@jichi.ac.jp
RI Masuda, Takahiro/GQQ-4751-2022
OI Masuda, Takahiro/0000-0002-6893-7188
FU Japan Agency for Medical Research and Development; AMED; Japan Dialysis
   Outcome Research [2006-013]; Grants-in-Aid for Scientific Research
   [15K09269] Funding Source: KAKEN
FX This study was supported in part by a Grant-in-Aid for Research on
   Advanced Chronic Kidney Disease, Practical Research Project for Renal
   Diseases from Japan Agency for Medical Research and Development, AMED,
   and the Japan Dialysis Outcome Research (2006-013). The authors thank
   Gary Baley for academic editing of the paper. The authors also thank the
   dialysis center staff in the Japanese Red Cross Koga Hospital for their
   excellent technical assistance.
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NR 53
TC 38
Z9 42
U1 0
U2 0
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1687-8337
EI 1687-8345
J9 INT J ENDOCRINOL
JI Int. J. Endocrinol.
PY 2015
VL 2015
AR 406269
DI 10.1155/2015/406269
PG 10
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA CW0UR
UT WOS:000364705600001
PM 26604925
OA gold, Green Submitted, Green Published
DA 2025-04-10
ER

PT J
AU Hwang, EM
   Kim, DG
   Lee, BJ
   Choi, J
   Kim, E
   Park, N
   Kang, D
   Han, J
   Choi, WS
   Hong, SG
   Park, JY
AF Hwang, Eun Mi
   Kim, Dong-Gyu
   Lee, Byung Ju
   Choi, Jungil
   Kim, Eunju
   Park, Nammi
   Kang, Dawon
   Han, Jaehee
   Choi, Wan Sung
   Hong, Seong-Geun
   Park, Jae-Yong
TI Alternative splicing generates a novel non-secretable cytosolic isoform
   of NELL2
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE NELL2; cytosolic NELL2; alternative splicing; signal peptide
ID FACTOR-LIKE DOMAIN; EGF-LIKE REPEATS; GENE-EXPRESSION; RAT-BRAIN;
   PROTEIN; GROWTH; THROMBOSPONDIN-1; DIFFERENTIATION; CELLS
AB NELL2 is as a neuron-specific secreted glycoprotein. The present study provides evidence of an alternatively spliced variant of the rat NELL2 gene that yields cytosolic NELL2 (cNELL2). cNELL2 was initially detected in the thymus and subsequently found to be ubiquitously expressed in many other tissues. The absence of the sequences corresponding to the third exon, which contains the terminal portion of the signal peptide, accounts for the uniform distribution of cNELL2 throughout the cytoplasm. This is in contrast to NELL2, which is preferentially located at distinct subcellular structures involved in the secretary process, such as endoplasmic reticulum and Golgi apparatus. Western blot analysis showed that cNELL2 was not present in the medium but only in lysates, while NELL2 was detected as a glycosylated larger form in both lysates and media. Immunoprecipitation analysis revealed that cNELL2 interacts with PKC beta 1. These results suggest that cNELL2 is involved in PKC beta 1-mediated intracellular signaling. (c) 2006 Elsevier Inc. All rights reserved.
C1 Gyeongsang Natl Univ, Coll Med, Inst Hlth Sci, Dept Neurobiol, Jinju 660751, South Korea.
   Gyeongsang Natl Univ, Coll Med, Med Res Ctr Neural Dysfunct, Jinju 660751, South Korea.
   Univ Ulsan, Dept Biol Sci, Ulsan 680749, South Korea.
C3 Gyeongsang National University; Gyeongsang National University;
   University of Ulsan
RP Hong, SG (corresponding author), Gyeongsang Natl Univ, Coll Med, Inst Hlth Sci, Dept Neurobiol, 90 Chilam Dong, Jinju 660751, South Korea.
EM hong149@gnu.ac.kr; jaeyong@gnu.ac.kr
RI Kim, Yun-Gon/HLP-9951-2023; Hwang, Eun Mi/HHN-3030-2022
OI Park, Jae-Yong/0000-0001-7698-7890
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NR 19
TC 23
Z9 26
U1 0
U2 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD FEB 16
PY 2007
VL 353
IS 3
BP 805
EP 811
DI 10.1016/j.bbrc.2006.12.115
PG 7
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 127FF
UT WOS:000243570000046
PM 17196548
DA 2025-04-10
ER

PT J
AU Mayr, JA
   Zimmermann, FA
   Horváth, R
   Schneider, HC
   Schoser, B
   Holinski-Feder, E
   Czermin, B
   Freisinger, P
   Sperl, W
AF Mayr, Johannes A.
   Zimmermann, Franz A.
   Horvath, Rita
   Schneider, Hans-Christian
   Schoser, Benedikt
   Holinski-Feder, Elke
   Czermin, Birgit
   Freisinger, Peter
   Sperl, Wolfgang
TI Deficiency of the mitochondrial phosphate carrier presenting as myopathy
   and cardiomyopathy in a family with three affected children
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE Mitochondrial energy metabolism; ATP synthesis; Mutually exclusive
   alternative splicing; Cardiomyopathy; Muscular hypotonia
ID ADENINE-NUCLEOTIDE TRANSLOCATOR; ATP SYNTHASE DEFICIENCY; TISSUE
   DISTRIBUTION; MUTATION; GENE
AB In a family three children presented with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia. One child died in infancy, two survived a clinically severe neonatal period. At an age of 9 and 17 years, respectively, they present with exercise intolerance, proximal muscle weakness, non-progressive hypertrophic cardiomyopathy and normal mental development. In a muscle biopsy normal activity of respiratory chain enzymes was found; however the amount of the mitochondrial phosphate carrier was decreased. This protein is expressed in two tissue-specific isoforms generated by mutually exclusive alternative splicing of the SLC25A3 gene transcript. We identified a homozygous mutation c.158-9A>G located in the 5'-intron next to exon 3A specific for heart and skeletal muscle. This creates a novel splice site resulting in a more than 95% decrease of the wild type allele. (C) 2011 Elsevier B.V. All rights reserved.
C1 [Mayr, Johannes A.; Zimmermann, Franz A.; Sperl, Wolfgang] Paracelsus Med Univ, Dept Paediat, A-5020 Salzburg, Austria.
   [Horvath, Rita; Holinski-Feder, Elke; Czermin, Birgit] Ctr Med Genet, Munich, Germany.
   [Horvath, Rita] Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
   [Schneider, Hans-Christian; Freisinger, Peter] Community Hosp Reutlingen, Dept Paediat, Reutlingen, Germany.
   [Schoser, Benedikt] Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany.
   [Freisinger, Peter] Tech Univ, Metab Dept, Childrens Hosp, Munich, Germany.
C3 Paracelsus Private Medical University; Newcastle University - UK;
   University of Munich; University of Munich; Technical University of
   Munich
RP Mayr, JA (corresponding author), Paracelsus Med Univ, Dept Paediat, Mullner Hauptstr 48, A-5020 Salzburg, Austria.
EM h.mayr@salk.at
RI Horvath, Rita/AAY-7042-2020; Inerbaev, Talgat/AAB-7633-2020; Schneider,
   Hans/B-9450-2009
OI Horvath, Rita/0000-0002-9841-170X; Schoser,
   Benedikt/0000-0002-2757-8131; Mayr, Johannes/0000-0001-6970-336X
FU Oesterreichische Nationalbank-Jubilaumsfonds [12568]; Vereinigung zur
   Padiatrischen Forschung und Fortbildung Salzburg; MRC [G1000848] Funding
   Source: UKRI
FX We thank Prof. Ferdinando Palmieri for critical reading of the
   manuscript and Daniel Miner for editorial assistance. Funded by the
   Oesterreichische Nationalbank-Jubilaumsfonds Grant No. 12568 and the
   Vereinigung zur Padiatrischen Forschung und Fortbildung Salzburg.
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NR 19
TC 57
Z9 63
U1 0
U2 7
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
EI 1873-2364
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD NOV
PY 2011
VL 21
IS 11
BP 803
EP 808
DI 10.1016/j.nmd.2011.06.005
PG 6
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 853BX
UT WOS:000297402300006
PM 21763135
DA 2025-04-10
ER

PT J
AU Palhais, B
   Dembic, M
   Sabaratnam, R
   Nielsen, KS
   Doktor, TK
   Bruun, GH
   Andresen, BS
AF Palhais, Bruno
   Dembic, Maja
   Sabaratnam, Rugivan
   Nielsen, Kira S.
   Doktor, Thomas Koed
   Bruun, Gitte Hoffmann
   Andresen, Brage Storstein
TI The prevalent deep intronic c. 639+919 G&gt;A GLA mutation causes
   pseudoexon activation and Fabry disease by abolishing the binding of
   hnRNPA1 and hnRNP A2/B1 to a splicing silencer
SO MOLECULAR GENETICS AND METABOLISM
LA English
DT Article
DE Pseudoexon; Fabry disease; GLA; hnRNP A1 hnRNP A2/B1; hnRNP F/H; Splice
   switching oligonucleotide (SSO); ESE; ESS
ID MESSENGER-RNA DECAY; ALPHA-GALACTOSIDASE; SEQUENCE MOTIFS; GENE;
   NONSENSE; THERAPY; VARIANT; IDENTIFICATION; THERAPEUTICS; ENHANCER
AB Fabry disease is an X-linked recessive inborn disorder of the glycosphingolipid metabolism, caused by total or partial deficiency of the lysosomal alpha-galactosidase A enzyme due to mutations in the GLA gene. The prevalent c.639 + 919 G>A mutation in GM leads to pathogenic insertion of a 57 bp pseudoexon sequence from intron 4, which is responsible for the cardiac variant phenotype. In this study we investigate the splicing regulatory mechanism leading to CIA pseudoexon activation. Splicing analysis of GLA minigenes revealed that pseudoexon activation is influenced by cell-type. We demonstrate that the wild-type sequence harbors an hnRNP A1 and hnRNP A2/B1-binding exonic splicing silencer (ESS) overlapping the 5'splice site (5'ss) that prevents pseudoexon inclusion. The c.639 + 919 G>A mutation disrupts this ESS allowing U1 snRNP recognition of the 5'ss. We show that the wild-type GLA 5'ss motif with the ESS is also able to inhibit inclusion of an unrelated pseudoexon in the FGB gene, and that also in the FGB context inactivation of the ESS by the c.639 + 919 G>A mutation causes pseudoexon activation, underscoring the universal nature of the ESS.
   Finally, we demonstrate that splice switching oligonucleotide (SSO) mediated blocking of the pseudoexon 3'ss and 5'ss effectively restores normal GM splicing. This indicates that SSO based splicing correction may be a therapeutic alternative in the treatment of Fabry disease. (C) 2016 Elsevier Inc. All rights reserved.
C1 [Palhais, Bruno; Dembic, Maja; Sabaratnam, Rugivan; Nielsen, Kira S.; Doktor, Thomas Koed; Bruun, Gitte Hoffmann; Andresen, Brage Storstein] Univ Southern Denmark, Dept Biochem & Mol Biol, Villum Ctr Bioanalyt Sci, Odense M, Denmark.
C3 University of Southern Denmark
RP Andresen, BS (corresponding author), Univ Southern Denmark, Dept Biochem & Mol Biol, Villum Ctr Bioanalyt Sci, Odense M, Denmark.
EM bragea@bmb.sdu.dk
RI Sabaratnam, Rugivan/ABC-5668-2021; Andresen, Brage
   Storstein/D-2515-2012; Doktor, Thomas/G-9923-2014
OI Andresen, Brage Storstein/0000-0001-7488-3035; Palhais,
   Bruno/0000-0003-3733-6256; Dembic, Maja/0000-0003-2505-6863; Doktor,
   Thomas/0000-0002-5315-8325; Sabaratnam, Rugivan/0000-0002-4085-1083
FU Natur og Univers; Det Frie Forskningsrad [4181-00515]; Novo Nordisk
   Fonden (DK) [61310-0128, 15430]
FX This work was supported by grants from Natur og Univers, Det Frie
   Forskningsrad (4181-00515) and Novo Nordisk Fonden (DK) (61310-0128 and
   15430) to Brage S. Andresen. The funders had no role in study design,
   data collection and analysis, decision to publish, or preparation of the
   manuscript.
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NR 54
TC 26
Z9 28
U1 0
U2 6
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1096-7192
EI 1096-7206
J9 MOL GENET METAB
JI Mol. Genet. Metab.
PD NOV
PY 2016
VL 119
IS 3
BP 258
EP 269
DI 10.1016/j.ymgme.2016.08.007
PG 12
WC Endocrinology & Metabolism; Genetics & Heredity; Medicine, Research &
   Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism; Genetics & Heredity; Research & Experimental
   Medicine
GA EA9TH
UT WOS:000386987100008
PM 27595546
DA 2025-04-10
ER

PT J
AU Barresi, S
   Tomaselli, S
   Athanasiadis, A
   Galeano, F
   Locatelli, F
   Bertini, E
   Zanni, G
   Gallo, A
AF Barresi, Sabina
   Tomaselli, Sara
   Athanasiadis, Alekos
   Galeano, Federica
   Locatelli, Franco
   Bertini, Enrico
   Zanni, Ginevra
   Gallo, Angela
TI Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked
   Intellectual Disability, Undergoes RNA Editing and Alternative Splicing
   during Human Brain Development
SO PLOS ONE
LA English
DT Article
ID MENTAL-RETARDATION; MESSENGER-RNA; VENTRICULAR ENLARGEMENT; CEREBELLAR
   HYPOPLASIA; BAR DOMAIN; RECEPTOR; PROTEIN; INOSINE; DROSOPHILA;
   MUTATIONS
AB Oligophrenin-1 (OPHN1) encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. Mutations in this gene have been identified in patients with X-linked intellectual disability associated with cerebellar hypoplasia. ADAR enzymes are responsible for A-to-I RNA editing, an essential post-transcriptional RNA modification contributing to transcriptome and proteome diversification. Specifically, ADAR2 activity is essential for brain development and function. Herein, we show that the OPHN1 transcript undergoes post-transcriptional modifications such as A-to-I RNA editing and alternative splicing in human brain and other tissues. We found that OPHN1 editing is detectable already at the 18th week of gestation in human brain with a boost of editing at weeks 20 to 33, concomitantly with OPHN1 expression increase and the appearance of a novel OPHN1 splicing isoform. Our results demonstrate that multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development.
C1 [Barresi, Sabina; Bertini, Enrico; Zanni, Ginevra] Bambino Gesu Childrens Hosp IRCCS, Mol Med Lab, Dept Neurosci, Rome, Italy.
   [Tomaselli, Sara; Galeano, Federica; Locatelli, Franco; Gallo, Angela] Bambino Gesu Childrens Hosp IRCCS, Oncohaematol Dept, RNA Editing Lab, Rome, Italy.
   [Athanasiadis, Alekos] Inst Gulbenkian Ciencias, Oeiras, Portugal.
   [Locatelli, Franco] Univ Pavia, I-27100 Pavia, Italy.
C3 IRCCS Bambino Gesu; IRCCS Bambino Gesu; Instituto Gulbenkian de Ciencia;
   University of Pavia
RP Zanni, G (corresponding author), Bambino Gesu Childrens Hosp IRCCS, Mol Med Lab, Dept Neurosci, Rome, Italy.
EM ginevra.zanni@opbg.net; angela.gallo@opbg.net
RI Locatelli, Franco/K-6734-2016; Athanasiadis, Alekos/F-2038-2011; Zanni,
   Ginevra/L-2869-2015; Gallo, Angela/E-7837-2011; Bertini,
   Enrico/A-2284-2014
OI BARRESI, SABINA/0000-0002-7307-388X; Athanasiadis,
   Alekos/0000-0003-1526-0000; Zanni, Ginevra/0000-0002-6367-1843; Gallo,
   Angela/0000-0003-0297-1807; Tomaselli, Sara/0009-0008-1002-6198;
   Bertini, Enrico/0000-0001-9276-4590
FU IG grant from AIRC (Associazione Italiana Ricerca sul cancro) [13202];
   special project 5x1000 AIRC
FX This work was supported by an IG grant (n. 13202) to A. G. from AIRC
   (Associazione Italiana Ricerca sul cancro) and by the special project
   5x1000 AIRC to F. L. The funders had no role in study design, data
   collection and analysis, decision to publish, or preparation of the
   manuscript.
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NR 67
TC 12
Z9 14
U1 0
U2 8
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 17
PY 2014
VL 9
IS 3
AR e91351
DI 10.1371/journal.pone.0091351
PG 12
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA AD4XD
UT WOS:000333254100029
PM 24637888
OA Green Submitted, Green Published, gold
DA 2025-04-10
ER

PT J
AU Li, YA
   Guo, XJ
   Xue, GH
   Wang, H
   Wang, YL
   Wang, WL
   Yang, SF
   Ni, QH
   Chen, JQ
   Lv, L
   Zhao, YP
   Ye, M
   Zhang, L
AF Li, Yinan
   Guo, Xiangjiang
   Xue, Guanhua
   Wang, Han
   Wang, Yuli
   Wang, Weilun
   Yang, Shuofei
   Ni, Qihong
   Chen, Jiaquan
   Lv, Lei
   Zhao, Yiping
   Ye, Meng
   Zhang, Lan
TI RNA Splicing of the Abi1 Gene by MBNL1 contributes to macrophage-like
   phenotype modulation of vascular smooth muscle cell during atherogenesis
SO CELL PROLIFERATION
LA English
DT Article
DE Abi1; alternative splicing; macrophage&#8208; like vascular smooth
   muscle cells; MBNL1
ID PROTEIN; TRANSDIFFERENTIATION; ACTIVATION; BINDING
AB Background Vascular smooth muscle cells (VSMC) switch to macrophage-like cells after cholesterol loading, and this change may play an important role in atherogenesis. Muscleblind-like splicing regulator 1 (MBNL1) is a well-known splicing factor that has been implicated in many cellular processes. However, the role of MBNL1 in VSMC macrophage-like transdifferentiation is largely unknown. In this study, we aim to characterize the role of MBNL1-induced gene splicing during atherogenesis.
   Methods The expression of MBNL1 and Abelson interactor 1 (Abi1) splice variants (Abi1-e10 and Abi1-Delta e10) was compared between artery tissues from healthy donors and atherosclerosis patients. Regulatory mechanisms of MBNL1-induced Abi1 gene splicing were studied, and the signal pathways mediated by Abi1 splice variants were investigated in VSMC.
   Results Loss of MBNL1 was found in the macrophage-like VSMC (VSMC-M) in artery wall from atherosclerosis patients. In vitro and in vivo evidence confirmed that Abi1 is one of the MBNL1 target genes. Loss of MBNL1 significantly induces the Abi1-Delta e10 isoform expression. Compared to the known actin organization activities of the Abi1 gene, we discovered a novel action of Abi1-Delta e10, whereby Abi1-Delta e10 activates Rac1 independent of upstream stimulation and triggers the Rac1-NOX1-ROS pathway, which results in increased expression of transcription factor Kruppel-like factor 4 (KLF4). While Abi1-Delta e10 inhibits contractile VSMC biomarkers expression and cell contraction, it stimulates VSMC proliferation, migration and macrophage-like transdifferentiation.
   Conclusion Loss-of-function of MBNL1 activates VSMC-M transdifferentiation to promote atherogenesis through regulating Abi1 RNA splicing.
C1 [Li, Yinan; Guo, Xiangjiang; Xue, Guanhua; Wang, Han; Wang, Yuli; Wang, Weilun; Yang, Shuofei; Ni, Qihong; Chen, Jiaquan; Lv, Lei; Zhao, Yiping; Ye, Meng; Zhang, Lan] Shanghai Jiao Tong Univ, Sch Med, Renji Hosp, Dept Vasc Surg, Shanghai 200127, Peoples R China.
C3 Shanghai Jiao Tong University
RP Ye, M; Zhang, L (corresponding author), Shanghai Jiao Tong Univ, Sch Med, Renji Hosp, Dept Vasc Surg, Shanghai 200127, Peoples R China.
EM 13817145123@163.com; rjzhanglan@sjtu.edu.cn
RI Yang, Shuofei/Y-1578-2018
OI Wang, Han/0000-0002-9406-5387
FU National Nature Science Foundation of China [81670442, 81800415,
   82000447]; 'Star of Jiaotong University' Medical-Industry
   Interdisciplinary Research Fund [02.101004.282.022]
FX This work is supported by the National Nature Science Foundation of
   China (81670442 to Zhang L, 81800415 to Li Y and 82000447 to Ni Q) and
   `Star of Jiaotong University' Medical-Industry Interdisciplinary
   Research Fund (02.101004.282.022 to Zhang L).
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NR 25
TC 16
Z9 16
U1 0
U2 17
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0960-7722
EI 1365-2184
J9 CELL PROLIFERAT
JI Cell Prolif.
PD MAY
PY 2021
VL 54
IS 5
AR e13023
DI 10.1111/cpr.13023
EA MAR 2021
PG 10
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA RV6SG
UT WOS:000631713300001
PM 33759281
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Gao, F
   Ihn, HE
   Medina, MW
   Krauss, RM
AF Gao, Feng
   Ihn, Hansel E.
   Medina, Marisa W.
   Krauss, Ronald M.
TI A common polymorphism in the LDL receptor gene has multiple effects on
   LDL receptor function
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID DENSITY-LIPOPROTEIN RECEPTOR; CORONARY-ARTERY-DISEASE; NONSENSE-MEDIATED
   DECAY; MESSENGER-RNA; SPLICING EFFICIENCY; LIGAND-BINDING; CODON USAGE;
   CHOLESTEROL; ASSOCIATION; ANTIBODY
AB A common synonymous single nucleotide polymorphism in exon 12 of the low-density lipoprotein receptor (LDLR) gene, rs688, has been associated with increased plasma total and LDL cholesterol in several populations. Using immortalized lymphoblastoid cell lines from a healthy study population, we confirmed an earlier report that the minor allele of rs688 is associated with increased exon 12 alternative splicing (P 0.05) and showed that this triggered nonsense-mediated decay (NMD) of the alternatively spliced LDLR mRNA. However, since synonymous single nucleotide polymorphisms may influence structure and function of the encoded proteins by co-translational effects, we sought to test whether rs688 was also functional in the full-length mRNA. In HepG2 cells expressing LDLR cDNA constructs engineered to contain the major or minor allele of rs688, the latter was associated with a smaller amount of LDLR protein at the cell surface (21.8 0.6, P 0.012), a higher amount in the lysosome fraction (25.7 0.3, P 0.037) and reduced uptake of fluorescently labeled LDL (24.3 0.7, P 0.01). Moreover, in the presence of exogenous proprotein convertase subtilisin/kexin type 9 (PCSK9), a protein that reduces cellular LDL uptake by promoting lysosomal degradation of LDLR, the minor allele resulted in reduced capacity of a PCSK9 monoclonal antibody to increase LDL uptake. These findings are consistent with the hypothesis that rs688, which is located in the -propeller region of LDLR, has effects on LDLR activity beyond its role in alternative splicing due to impairment of LDLR endosomal recycling and/or PCSK9 binding, processes in which the -propeller is critically involved.
C1 [Gao, Feng; Ihn, Hansel E.; Medina, Marisa W.; Krauss, Ronald M.] Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA.
C3 University of California System; University of California San Francisco;
   UCSF Medical Center; UCSF Benioff Children's Hospital Oakland;
   Children's Hospital Oakland Research Institute
RP Krauss, RM (corresponding author), Childrens Hosp Oakland, Res Inst, 5700 Martin Luther King Jr Way, Oakland, CA 94609 USA.
EM rkrauss@chori.org
RI Krauss, Ronald M./LTD-4078-2024; Ihn, Hansel/I-7901-2015
OI Ihn, Hansel/0000-0003-1262-8535
FU Merck; NIH [HL069757, HL104133-01]; National Institute of Diabetes and
   Digestive and Kidney Diseases [P30DK026743] Funding Source: NIH RePORTER
FX This project was supported by an investigator initiated grant from
   Merck, and NIH grants HL069757 and HL104133-01.
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NR 36
TC 31
Z9 33
U1 0
U2 14
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD APR 1
PY 2013
VL 22
IS 7
BP 1424
EP 1431
DI 10.1093/hmg/dds559
PG 8
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 108MH
UT WOS:000316297000014
PM 23297366
OA Bronze, Green Published
DA 2025-04-10
ER

PT J
AU Hambrock, A
   Preisig-Müller, R
   Russ, U
   Piehl, A
   Hanley, PJ
   Ray, J
   Daut, J
   Quast, U
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AF Hambrock, A
   Preisig-Müller, R
   Russ, U
   Piehl, A
   Hanley, PJ
   Ray, J
   Daut, J
   Quast, U
   Derst, C
TI Four novel splice variants of sulfonylurea receptor 1
SO AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
LA English
DT Article
DE ATP-sensitive potassium channel; mitochondria; glibenclamide;
   meglitinide
ID K-ATP CHANNEL; SENSITIVE POTASSIUM CHANNELS; RAT ISOLATED AORTA;
   BETA-CELL LINE; HIGH-AFFINITY; GLIBENCLAMIDE BINDING; SUBUNIT; OPENERS;
   STOICHIOMETRY; EXPRESSION
AB ATP-sensitive K+ (K-ATP) channels are composed of pore-forming Kir6.x subunits and regulatory sulfonylurea receptor (SUR) subunits. SURs are ATP-binding cassette proteins with two nucleotide-binding folds (NBFs) and binding sites for sulfonylureas, like glibenclamide, and for channel openers. Here we report the identification and functional characterization of four novel splice forms of guinea pig SUR1. Three splice forms originate from alternative splicing of the region coding for NBF1 and lack exons 17 (SUR1Delta17), 19 (SUR1Delta19), or both (SUR1Delta17Delta19). The fourth (SUR1C) is a COOH-terminal SUR1-fragment formed by exons 31-39 containing the last two transmembrane segments and the COOH terminus of SUR1. RT-PCR analysis showed that these splice forms are expressed in several tissues with strong expression of SUR1C in cardiomyocytes. Confocal microscopy using enhanced green fluorescent protein-tagged SUR or Kir6.x did not provide any evidence for involvement of these splice forms in the mitochondrial KATP channel. Only SUR1 and SUR1Delta17 showed high-affinity binding of glibenclamide (K-d approximate to 2 nM in the presence of 1 mM ATP) and formed functional K-ATP channels upon coexpression with Kir6.2.
C1 Univ Marburg, Inst Physiol, D-35037 Marburg, Germany.
   Univ Tubingen, Inst Pharmacol, D-72074 Tubingen, Germany.
C3 Philipps University Marburg; Eberhard Karls University of Tubingen
RP Daut, J (corresponding author), Univ Marburg, Inst Physiol, Deutschhausstr 2, D-35037 Marburg, Germany.
RI Derst, Christian/KFS-6380-2024; Hanley, Peter/H-4915-2017
OI Derst, Christian/0000-0003-0852-4549
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NR 48
TC 26
Z9 37
U1 0
U2 2
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6143
J9 AM J PHYSIOL-CELL PH
JI Am. J. Physiol.-Cell Physiol.
PD AUG
PY 2002
VL 283
IS 2
BP C587
EP C598
DI 10.1152/ajpcell.00083.2002
PG 12
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA 571FD
UT WOS:000176704900024
PM 12107069
DA 2025-04-10
ER

PT J
AU Aherrahrou, Z
   Doehring, LC
   Ehlers, EM
   Liptau, H
   Depping, R
   Linsel-Nitschke, P
   Kaczmarek, PM
   Erdmann, J
   Schunkert, H
AF Aherrahrou, Zouhair
   Doehring, Lars C.
   Ehlers, Eva-Maria
   Liptau, Henrike
   Depping, Reinhard
   Linsel-Nitschke, Patrick
   Kaczmarek, Piotr M.
   Erdmann, Jeanette
   Schunkert, Heribert
TI An alternative splice variant in Abcc6, the gene causing
   dystrophic calcification, leads to protein deficiency in C3H/He mice
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID MYOCARDIAL-CELL NECROSIS; PSEUDOXANTHOMA ELASTICUM; CARDIAC CALCINOSIS;
   CHROMOSOME 16P13.1; DBA/2 MICE; LOCUS; HYDROCORTISONE; TRANSPORTER;
   MUTATIONS; TISSUES
AB Dystrophic cardiac calcification (DCC) is an autosomal recessive trait characterized by calcium phosphate deposits in myocardial tissue. The Abcc6 gene locus was recently found to mediate DCC; however, at the molecular level the causative variants remain to be determined. Examining the sequences of Abcc6 cDNA in DCC-resistant C57BL/6 and DCC-susceptible C3H/He mice, we identified a missense mutation (Cys to Thr at codon 619, rs32756904) at the 3'-border of exon 14 that creates an additional donor splice site (GT). Accordingly, an alternative transcript variant was detected, lacking the last 5 bp of exon 14 (-AGG(C/T) GCTgtga-) in DCC-susceptible C3H/He mice that carry the Thr allele. The 5-bp deletion was found to result in premature termination at codon 684, in turn leading to protein deficiency in DCC-susceptible mouse tissue as well as in cells transfected with Abcc6c DNA lacking the last 5 bp of exon 14. All mouse strains that were found to carry the Thr allele, including C3H/He, DBA/2J, and 129S1/SvJ, were also found to be positive for DCC. In summary, we identified a splice variant leading to a 5-bp deletion in the Abcc6 transcript that gives rise to protein deficiency both in vivo and in vitro. The fact that all mouse strains that carry the deletion also develop dystrophic calcifications further suggests that the underlying splice variant affects the biological function of MRP6 protein and is a cause of DCC in mice.
C1 [Aherrahrou, Zouhair; Doehring, Lars C.; Ehlers, Eva-Maria; Liptau, Henrike; Linsel-Nitschke, Patrick; Kaczmarek, Piotr M.; Erdmann, Jeanette; Schunkert, Heribert] Med Univ Lubeck, Med Klin 2, Dept Med 2, D-23538 Lubeck, Germany.
   [Depping, Reinhard] Med Univ Lubeck, Inst Physiol, D-23538 Lubeck, Germany.
C3 University of Lubeck; University of Lubeck
RP Aherrahrou, Z (corresponding author), Med Univ Lubeck, Med Klin 2, Dept Med 2, Ratzeburger Allee 160, D-23538 Lubeck, Germany.
EM Zouhair.Aherrahrou@uk-sh.de
RI Depping, Reinhard/B-6880-2018; Schunkert, Heribert/IUN-5308-2023;
   Erdmann, Jeanette/P-7513-2014
OI Aherrahrou, Zouhair/0000-0002-1241-8733; Depping,
   Reinhard/0000-0002-4860-6058; Erdmann, Jeanette/0000-0002-4486-6231
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NR 26
TC 55
Z9 62
U1 0
U2 3
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD MAR 21
PY 2008
VL 283
IS 12
BP 7608
EP 7615
DI 10.1074/jbc.M708290200
PG 8
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 274JP
UT WOS:000253997900036
PM 18201967
DA 2025-04-10
ER

PT J
AU He, X
   Zhang, JN
   Guo, YS
   Yang, XW
   Huang, YF
   Hao, DJ
AF He, Xin
   Zhang, Jianan
   Guo, Yunshan
   Yang, Xiaowei
   Huang, Yunfei
   Hao, Dingjun
TI LncRNA MIAT Promotes Spinal Cord Injury Recovery in Rats by Regulating
   RBFOX2-Mediated Alternative Splicing of MCL-1
SO MOLECULAR NEUROBIOLOGY
LA English
DT Article
DE LncRNA MIAT; RBFOX2; MCL-1; Alternative splicing; Spinal cord injury
ID APOPTOSIS; AUTOPHAGY; CANCER; RBFOX2
AB LncRNA myocardial infarction-associated transcript (MIAT) alleviates acute spinal cord injury (ASCI)-induced neuronal cell apoptosis, but the specific mechanism of it involved in regulating SCI progression needs further exploration. Here, a SCI rat model was established, followed by administration with adenovirus-mediated MIAT overexpression vector (Ad-MIAT) alone or together with Ad-RBFOX2 (RNA binding fox-1 homolog 2). The data indicated that MIAT overexpression promoted motor function recovery, improved morphology of injured tissues, and restrained neuron loss and cell apoptosis in SCI rats. Then, PC-12 cells were treated with H2O2 to induce cell injury. And highly expressed MIAT suppressed H2O2-caused decrease in cell viability and increase in cell apoptosis. MIAT stabilized RBFOX2 protein expression by binding to RBFOX2, thereby promoting RBFOX2-induced upregulation of anti-apoptotic MCL-1L (myeloid cell leukemia sequence 1) and reduction of pro-apoptotic MCL-1S. And silencing RBFOX2 in vitro blocked the inhibitory effect of MIAT on cell apoptosis. Moreover, MCL-1-specific steric-blocking oligonucleotides (SBOs) were used to transfer the MCL-1 pre-mRNA splicing pattern from MCL-1L to MCL-1S. SBOs reversed the protection effect of RBFOX2 overexpression on H2O2-induced cell injury. Furthermore, overexpression of MCL-1L instead of MCL-1S facilitated autophagy activation in H2O2-stimulated cells. Interestingly, co-overexpression of MIAT and RBFOX2 had a better promoting effect on SCI recovery. In conclusion, MIAT mitigated SCI by promoting RBFOX2-mediated alternative splicing of MCL-1. Our findings might provide a promising therapeutic target for SCI.
C1 [He, Xin; Zhang, Jianan; Guo, Yunshan; Yang, Xiaowei; Huang, Yunfei; Hao, Dingjun] Xi An Jiao Tong Univ, Hlth Sci Ctr, Hong Hui Hosp, Dept Spine Surg, 555 Youyi East Rd, Xian 710054, Peoples R China.
C3 Xi'an Jiaotong University
RP Hao, DJ (corresponding author), Xi An Jiao Tong Univ, Hlth Sci Ctr, Hong Hui Hosp, Dept Spine Surg, 555 Youyi East Rd, Xian 710054, Peoples R China.
EM mixirenren61245@163.com
RI huang, yunfei/HCH-7746-2022; He, Xin/JYQ-1624-2024
OI Hao, Dingjun/0000-0001-6135-5372
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NR 43
TC 11
Z9 13
U1 0
U2 11
PU SPRINGER
PI NEW YORK
PA ONE NEW YORK PLAZA, SUITE 4600, NEW YORK, NY, UNITED STATES
SN 0893-7648
EI 1559-1182
J9 MOL NEUROBIOL
JI Mol. Neurobiol.
PD AUG
PY 2022
VL 59
IS 8
BP 4854
EP 4868
DI 10.1007/s12035-022-02896-2
EA MAY 2022
PG 15
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 3W4UB
UT WOS:000803858300003
PM 35641779
OA Green Submitted
DA 2025-04-10
ER

PT J
AU Bellincampi, L
   Simone, ML
   Motti, C
   Cortese, C
   Bernardini, S
   Bertolini, S
   Calandra, S
AF Bellincampi, L
   Simone, ML
   Motti, C
   Cortese, C
   Bernardini, S
   Bertolini, S
   Calandra, S
TI Identification of an alternative transcript of ABCA1 gene in different
   human cell types
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE ABCA1 gene; alternative splicing; exon skipping; posttranscriptional
   regulation
ID CONDUCTANCE REGULATOR GENE; MESSENGER-RNA TRANSCRIPTS; CASSETTE
   TRANSPORTER 1; TANGIER-DISEASE; CODING SEQUENCES; BINDING; CHOLESTEROL;
   EFFLUX; PROPORTION; MUTATIONS
AB We have observed two ABCA1 gene transcripts in human skin fibroblasts, The RT-PCR amplification of the exon 3-exon 8 region generated a normal fragment (740 bp) and an abnormal fragment (600 bp) in a ratio ranging from 3:1 to 8/9:1. These two transcripts were present in other cells such as leukemia T-cells, endothelial and smooth muscle cells as well human hepatoma cells (HepG2). Restriction enzyme analysis and sequencing indicated that in the abnormal fragment exon 3 was followed by exon 5. The complete skipping of exon 4 leads to a premature stop and a predicted translation product of 74 amino acids. The ratio between the normal and alternative transcript is not affected by variation in ABCA1 gene expression induced by incubating cells in serum-free medium and in the presence of cholesterol. It is possible that this alternative splicing represents as mechanism that regulates the ABCA1 content in tissues. (C) 2001 Academic Press.
C1 Univ Modena & Reggio Emilia, Dipartimento Sci Biomed, I-41100 Modena, Italy.
   Univ Roma Tor Vergata, Dept Med Interna, Rome, Italy.
   Univ Teramo, Dipartimento Sci Vet & Agroalimentari, Teramo, Italy.
   Univ Genoa, Dipartimento Med Interna, Genoa, Italy.
C3 Universita di Modena e Reggio Emilia; University of Rome Tor Vergata;
   University of Teramo; University of Genoa
RP Univ Modena & Reggio Emilia, Dipartimento Sci Biomed, Via Campi 287, I-41100 Modena, Italy.
EM sebcal@unimo.it
RI Bertolini, Stefano/V-4899-2019
OI Calandra, Sebastiano/0000-0001-6386-9174
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NR 33
TC 12
Z9 13
U1 0
U2 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD MAY 11
PY 2001
VL 283
IS 3
BP 590
EP 597
DI 10.1006/bbrc.2001.4823
PG 8
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 436GF
UT WOS:000168927600009
PM 11341765
DA 2025-04-10
ER

PT J
AU Dhananjaya, D
   Hung, KY
   Tarn, WY
AF Dhananjaya, D.
   Hung, Kuan-Yang
   Tarn, Woan-Yuh
TI RBM4 Modulates Radial Migration via Alternative Splicing of Dab1 during
   Cortex Development
SO MOLECULAR AND CELLULAR BIOLOGY
LA English
DT Article
DE alternative splicing; cortex development; neuronal migration; Dab1
ID MESSENGER-RNA; NEURONAL MIGRATION; BRAIN; DISABLED-1; SYSTEM;
   DIFFERENTIATION
AB The RNA-binding motif 4 (RBM4) protein participates in cell differentiation via its role in regulating the expression of tissue-specific or developmentally regulated mRNA splice isoforms. RBM4 is expressed in embryonic brain during development; it is initially enriched in the ventricular zone/subventricular zone and subsequently distributed throughout the cerebral cortex. Rbm4a knockout brain exhibited delayed migration of late-born neurons. Using in utero electroporation, we confirmed that knockdown of RBM4 impaired cortical neuronal migration. RNA immunoprecipitation with high-throughput sequencing identified Disabled-1 (Dab1), which encodes a critical reelin signaling adaptor, as a potential target of RBM4. Rbm4a knockout embryonic brain showed altered Dab1 isoform ratios. Overexpression of RBM4 promoted the inclusion of Dab1 exons 7 and 8 (7/8), whereas its antagonist polypyrimidine tract-binding protein 1 (PTBP1) acted in an opposite manner. RBM4 directly counteracted the effect of PTBP1 on exon 7/8 selection. Finally, we showed that the full-length Dab1, but not exon 7/8-truncated Dab1, rescued neuronal migration defects in RBM4-depleted neurons, indicating that RBM4 plays a role in neuronal migration via modulating the expression of Dab1 splice isoforms. Our findings imply that RBM4 is necessary during brain development and that its deficiency may lead to developmental brain abnormality.
C1 [Dhananjaya, D.; Tarn, Woan-Yuh] Natl Yang Ming Univ, Taiwan Int Grad Program Mol Med, Taipei, Taiwan.
   [Dhananjaya, D.; Tarn, Woan-Yuh] Acad Sinica, Taipei, Taiwan.
   [Dhananjaya, D.; Hung, Kuan-Yang; Tarn, Woan-Yuh] Acad Sinica, Inst Biomed Sci, Taipei, Taiwan.
C3 National Yang Ming Chiao Tung University; Academia Sinica - Taiwan;
   Academia Sinica - Taiwan
RP Tarn, WY (corresponding author), Natl Yang Ming Univ, Taiwan Int Grad Program Mol Med, Taipei, Taiwan.; Tarn, WY (corresponding author), Acad Sinica, Taipei, Taiwan.; Tarn, WY (corresponding author), Acad Sinica, Inst Biomed Sci, Taipei, Taiwan.
EM wtarn@bms.sinica.edu.tw
RI Tarn, Woan-Yuh/N-8464-2018
FU Ministry of Science and Technology [106-2311-B-001-015]
FX This work was supported by Ministry of Science and Technology grant
   106-2311-B-001-015.
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NR 31
TC 14
Z9 15
U1 1
U2 5
PU AMER SOC MICROBIOLOGY
PI WASHINGTON
PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA
SN 0270-7306
EI 1098-5549
J9 MOL CELL BIOL
JI Mol. Cell. Biol.
PD JUN
PY 2018
VL 38
IS 12
AR e00007-18
DI 10.1128/MCB.00007-18
PG 13
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA GH4YC
UT WOS:000433419600003
PM 29581187
OA Bronze, Green Published
DA 2025-04-10
ER

PT J
AU Wheway, G
   Lord, J
   Baralle, D
AF Wheway, Gabrielle
   Lord, Jenny
   Baralle, Diana
TI Splicing in the pathogenesis, diagnosis and treatment of ciliopathies
SO BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
LA English
DT Review
ID PRIMARY CILIARY DYSKINESIA; BARDET-BIEDL SYNDROME; SYNDROME TYPE-II;
   MESSENGER-RNA; RETINITIS-PIGMENTOSA; JOUBERT SYNDROME; USHER-SYNDROME;
   MECKEL-GRUBER; CENTROSOMAL PROTEIN; USH2A GENE
AB Primary cilia are essential signalling organelles found on the apical surface of epithelial cells, where they coordinate chemosensation, mechanosensation and light sensation. Motile cilia play a central role in establishing fluid flow in the respiratory tract, reproductive tract, brain ventricles and ear. Genetic defects affecting the structure or function of cilia can lead to a broad range of developmental and degenerative diseases known as ciliopathies.
   Splicing contributes to the pathogenesis, diagnosis and treatment of ciliopathies. Tissue-specific alternative splicing contributes to the tissue-specific manifestation of ciliopathy phenotypes, for example the retinal-specific effects of some genetic defects, due to specific transcript expression in the highly specialised ciliated cells of the retina, the photoreceptor cells. Ciliopathies can arise both as a result of genetic variants in spliceosomal proteins, or as a result of variants affecting splicing of specific cilia genes. Here we discuss the opportunities and challenges in diagnosing ciliopathies using RNA sequence analysis and the potential for treating ciliopathies in a relatively mutation-neutral way by targeting splicing. This article is part of a Special Issue entitled: RNA structure and splicing regulation edited by Francisco Baralle, Ravindra Singh and Stefan Stamm.
C1 [Wheway, Gabrielle; Lord, Jenny; Baralle, Diana] Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.
   [Wheway, Gabrielle; Lord, Jenny; Baralle, Diana] Univ Hosp Southampton NHS Fdn Trust, Southampton, Hants, England.
C3 University of Southampton; University of Southampton; University
   Hospital Southampton NHS Foundation Trust
RP Baralle, D (corresponding author), Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.
EM d.baralle@soton.ac.uk
RI Lord, Jenny/GYJ-1039-2022
OI Wheway, Gabrielle/0000-0002-0494-0783; Lord, Jenny/0000-0002-0539-9343
FU Wellcome Trust Seed Award in Science [204378/Z/16/Z]; NIHR
   [RP-2016-07-011]; National Institutes of Health Research (NIHR)
   [RP-2016-07-011] Funding Source: National Institutes of Health Research
   (NIHR); Wellcome Trust [204378/Z/16/Z] Funding Source: Wellcome Trust
FX GW is supported by a Wellcome Trust Seed Award in Science 204378/Z/16/Z
   DB and JL are supported by an NIHR Research Professorship
   RP-2016-07-011.
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NR 174
TC 19
Z9 19
U1 0
U2 9
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 1874-9399
EI 1876-4320
J9 BBA-GENE REGUL MECH
JI Biochim. Biophys. Acta-Gene Regul. Mech.
PD NOV-DEC
PY 2019
VL 1862
IS 11-12
AR 194433
DI 10.1016/j.bbagrm.2019.194433
PG 29
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA JU3YZ
UT WOS:000501615900014
PM 31698098
OA Green Accepted
DA 2025-04-10
ER

PT J
AU McGrory, J
   Cole, WG
AF McGrory, J
   Cole, WG
TI Alternative splicing of exon 37 of FBN1 deletes part of an
   'eight-cysteine' domain resulting in the Marfan syndrome
SO CLINICAL GENETICS
LA English
DT Article
DE extracellular matrix; protein module
ID FIBRILLIN-1 FBN1; MUTATIONS; GENE; FIBROBLASTS; SEQUENCE; CALCIUM
AB A child and his father had the skeletal and cardiovascular manifestations of Marfan syndrome due to a heterozygous G(+5) --> T transversion in intron 37 of the FBN1 gene. Cultured dermal fibroblasts preferentially used an alternative splice site in exon 37 that resulted in the loss of the 3' 48 nucleotides of this exon. The translational reading frame was maintained with deletion of lysine 1568 to threonine 1582 and splitting of the codons for glycine 1567 and serine 1583 to yield GCC for alanine. The deletion removed two cysteine residues as well as a potential N-linked oligosaccharide attachment site from the '8-cysteine' domain encoded by exons 37 and 38.
C1 Hosp Sick Children, Res Inst, Div Genet & Genom Biol, Toronto, ON M5G 1X8, Canada.
C3 University of Toronto; Hospital for Sick Children (SickKids)
RP Cole, WG (corresponding author), Hosp Sick Children, Div Orthopaed, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
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NR 19
TC 12
Z9 13
U1 0
U2 2
PU MUNKSGAARD INT PUBL LTD
PI COPENHAGEN
PA 35 NORRE SOGADE, PO BOX 2148, DK-1016 COPENHAGEN, DENMARK
SN 0009-9163
J9 CLIN GENET
JI Clin. Genet.
PD FEB
PY 1999
VL 55
IS 2
BP 118
EP 121
DI 10.1034/j.1399-0004.1999.550208.x
PG 4
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 175BW
UT WOS:000079072900011
PM 10189089
DA 2025-04-10
ER

PT J
AU Robyns, T
   Willems, R
   Van Cleemput, J
   Jhangiani, S
   Muzny, D
   Gibbs, R
   Lupski, JR
   Breckpot, J
   Devriendt, K
   Corveleyn, A
AF Robyns, Tomas
   Willems, Rik
   Van Cleemput, Johan
   Jhangiani, Shalini
   Muzny, Donna
   Gibbs, Richard
   Lupski, James R.
   Breckpot, Jeroen
   Devriendt, Koenraad
   Corveleyn, Anniek
TI Whole exome sequencing in a large pedigree with DCM identifies a novel
   mutation in RBM20
SO ACTA CARDIOLOGICA
LA English
DT Article
DE RBM20; whole exome sequencing; dilated cardiomyopathy; genetic testing;
   next generation sequencing; arrhythmogenic cardiomyopathy
ID DILATED CARDIOMYOPATHY; GENETIC-VARIATION; CARRIERS
AB Background: Familial dilated cardiomyopathy (DCM) is genetically heterogeneous and is associated with mutations in at least 40 different genes. Apart from TTN encoding the giant protein Titin, none of these genes have an expected diagnostic yield of more than 5% complicating genetic diagnosis. Whole exome sequencing (WES) is a powerful alternative for the identification of the causal gene, however variant interpretation remains challenging. We report on WES in a large family with autosomal dominant DCM complicated by end stage heart failure and non-sustained ventricular arrhythmias in whom no causative mutation was identified using a targeted gene panel including 28 genes. Methods and results: WES was applied on 2 affected cousins. Stringent filtering of the identified genetic variants was performed including population variant frequencies, in silico analysis, orthologous and paralogous conservation. Subsequently Sanger sequencing was performed for 10 potential disease causing variants in order to confirm the presence of the variant and to evaluate co-segregation. Only one variant in exon 9 of the RBM20 gene (c.2714T?>?A, p.Met950Lys, NM_001334363) showed full co-segregation in the 7 affected family members resulting in a maximum 2-point LOD score of 2.1 and suggesting this as the pathogenic mutation responsible for the phenotype. Recently mutations in RBM20 have been linked to arrhythmogenic dilated cardiomyopathy caused by defective splicing of the giant sarcomere protein titin and abnormal calcium handling. Conclusions: We report the identification of a novel mutation in RBM20 by WES in a large pedigree with DCM.
C1 [Robyns, Tomas; Willems, Rik; Van Cleemput, Johan] Univ Hosp Leuven, Dept Cardiovasc Dis, Herestr 49, B-3000 Leuven, Belgium.
   [Robyns, Tomas; Willems, Rik; Van Cleemput, Johan] Univ Leuven, Dept Cardiovasc Sci, Leuven, Belgium.
   [Jhangiani, Shalini; Muzny, Donna; Gibbs, Richard; Lupski, James R.; Corveleyn, Anniek] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
   [Breckpot, Jeroen; Devriendt, Koenraad] Univ Hosp Leuven, Dept Human Genet, Leuven, Belgium.
C3 KU Leuven; University Hospital Leuven; KU Leuven; Baylor College of
   Medicine; KU Leuven; University Hospital Leuven
RP Robyns, T (corresponding author), Univ Hosp Leuven, Dept Cardiovasc Dis, Herestr 49, B-3000 Leuven, Belgium.
EM Tomas.Robyns@uzleuven.be
RI Scolyer, Richard/AAE-8511-2019; Willems, Rik/AAM-2392-2020
OI Breckpot, Jeroen/0000-0002-0734-5154; Robyns, Tomas/0000-0002-8676-4874;
   Willems, Rik/0000-0002-5469-9609; Lupski, James R./0000-0001-9907-9246;
   devriendt, koenraad/0000-0002-3651-2548; Matthijs,
   Gert/0000-0001-6710-1912
FU National Institutes of Health; National Human Genome Research Institute
   (NHGRI) [UM1 HG006542]; National Heart, Lung, and Blood Institute
   (NHLBI) [UM1 HG006542]
FX This work was supported in part by the National Institutes of Health,
   and a jointly funded National Human Genome Research Institute (NHGRI),
   and National Heart, Lung, and Blood Institute (NHLBI) grant to the
   Baylor-Hopkins Centre for Mendelian Genomics [UM1 HG006542].
CR Altshuler DM, 2015, NATURE, V526, P68, DOI 10.1038/nature15393
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   Baylor College of Medicine, BCM HGSC PROT SEQ LI
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NR 25
TC 6
Z9 6
U1 0
U2 2
PU TAYLOR & FRANCIS LTD
PI ABINGDON
PA 2-4 PARK SQUARE, MILTON PARK, ABINGDON OR14 4RN, OXON, ENGLAND
SN 0001-5385
EI 1784-973X
J9 ACTA CARDIOL
JI Acta Cardiol.
PD DEC 1
PY 2020
VL 75
IS 8
BP 748
EP 753
DI 10.1080/00015385.2019.1674490
EA OCT 2019
PG 6
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA PN8IF
UT WOS:000489468700001
PM 31583969
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Wang, J
   Li, XQ
   Liu, Z
   Lin, XY
   Zhong, F
   Li, SH
   Tang, XR
   Zhang, Y
   Li, LL
AF Wang, Jing
   Li, Xiaoqing
   Liu, Zheng
   Lin, Xinyi
   Zhong, Fan
   Li, Shuhao
   Tang, Xinru
   Zhang, Yang
   Li, Liliang
TI Second-generation antipsychotics induce cardiotoxicity by disrupting
   spliceosome signaling: Implications from proteomic and transcriptomic
   analyses
SO PHARMACOLOGICAL RESEARCH
LA English
DT Article
DE Antipsychotics; Spliceosome; Cardiotoxicity; Proteome; Transcriptome
ID CLOZAPINE-INDUCED MYOCARDITIS; NECROSIS-FACTOR-ALPHA; OXIDATIVE STRESS;
   IN-VITRO; OLANZAPINE; CELLS; CARDIOMYOPATHY; CARDIOMYOCYTES;
   ADOLESCENTS; INHIBITION
AB Second-generation antipsychotics (SGAs) are first-line drugs that are prescribed for mental disorders in clinic. Severe cardiotoxicity has been widely reported and thus limits their clinical application. This study aimed to identify the common mechanism underlying SGAs-induced cardiotoxicity using dual-omics analyses. Balb/C mice were intraperitoneally injected with two representative SGAs, olanzapine (2.5 mg/kg) and clozapine (25 mg/kg), at clinically comparable doses for 0, 7, 14 and 21 days. Our results showed that both SGAs induced cardiomyocyte degeneration, inflammation infiltration, and cardiac fibrosis, all of which worsened with time. Proteomic analysis revelaed that 22 differentially expressed (DE) proteins overlapped in olanzapine and clozapine-treated hearts. These proteins were significantly enriched in muscle contraction, amino acid metabolism and spliceosomal assembly by GO term analysis and spliceosome signaling was among the top enriched pathways by KEGG analysis. Among the 22 DE proteins, three spliceosome signal proteins were validated in a dynamic detection, and their expression significantly correlated with the extent of SGAs-induced cardiac fibrosis. Following the spliceosome signaling dysregulation, RNA sequencing revealed that alternative splicing events in the mouse hearts were markedly enhanced by SGAs treatments, and the production of vast transcript variants resulted in dysregulation of multiple pathways that are critical for cardiomyocytes adaptation and cardiac remodeling. Pladienolide B, a specific inhibitor of mRNA splicing, successfully corrected SGAs-induced alternative splicing and significantly attenuated the secretion of pro-inflammatory factors and cell deaths induced by SGAs exposure. Our study concluded that the spliceosome signaling was a common pathway driving SGAs cardiotoxicity. Pharmacological inhibition of the spliceosome signaling represents a novel therapeutic strategy against SGAs cardiotoxicity.
C1 [Wang, Jing; Li, Xiaoqing; Liu, Zheng; Lin, Xinyi; Li, Shuhao; Tang, Xinru; Li, Liliang] Fudan Univ, Sch Basic Med Sci, Dept Forens Med, 131 Dongan Rd, Shanghai 200032, Peoples R China.
   [Zhong, Fan] Fudan Univ, Shanghai Med Coll, Dept Syst Biol Med, Shanghai 200032, Peoples R China.
   [Zhong, Fan; Zhang, Yang] Fudan Univ, Inst Biomed Sci, Shanghai 200032, Peoples R China.
C3 Fudan University; Fudan University; Fudan University
RP Li, LL (corresponding author), Fudan Univ, Sch Basic Med Sci, Dept Forens Med, 131 Dongan Rd, Shanghai 200032, Peoples R China.
EM wangj16@fudan.edu.cn; lixq15@fudan.edu.cn; liuz18@fudan.edu.cn;
   linxy16@fudan.edu.cn; zonefan@163.com; shli15@fudan.edu.cn;
   xrtang18@fudan.edu.cn; zhangyang@fudan.edu.cn; liliangli11@fudan.edu.cn
RI wang, jing/JKI-4209-2023; Li, Liliang/GQH-4362-2022
OI Li, Liliang/0000-0002-1933-134X; Wang, Jing/0000-0002-5479-6441
FU National Key Research and Development Program of China [2018YFC0910700,
   2016YFB0201702]; National Natural Science Foundation of China [81701861,
   81871527, 82070285]; Shanghai Health Committee Research Foundation
   [20194Y0066]; Wang-Dao Research Program of Fudan University [20017];
   Qing-Feng Scholar Foundation of Shanghai Medical College, Fudan
   University [QF2007]; Zhengyi Scholar Foundation of School of Basic
   Medical Sciences, Fudan University [S24-4]
FX This work was financially supported by the National Key Research and
   Development Program of China (No. 2018YFC0910700 and 2016YFB0201702),
   the National Natural Science Foundation of China (No. 81701861,
   81871527, and 82070285), the Shanghai Health Committee Research
   Foundation (20194Y0066), the Wang-Dao Research Program of Fudan
   University (No. 20017), The Qing-Feng Scholar Foundation of Shanghai
   Medical College, Fudan University (No. QF2007), the Zhengyi Scholar
   Foundation of School of Basic Medical Sciences, Fudan University (No.
   S24-4).
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NR 55
TC 15
Z9 16
U1 6
U2 36
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 1043-6618
EI 1096-1186
J9 PHARMACOL RES
JI Pharmacol. Res.
PD AUG
PY 2021
VL 170
AR 105714
DI 10.1016/j.phrs.2021.105714
EA JUN 2021
PG 18
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED); Social Science Citation Index (SSCI)
SC Pharmacology & Pharmacy
GA TT0IJ
UT WOS:000680035100002
PM 34098070
DA 2025-04-10
ER

PT J
AU Dery, KJ
   Wong, ZR
   Wei, MG
   Kupiec-Weglinski, JW
AF Dery, Kenneth J.
   Wong, Zeriel
   Wei, Megan
   Kupiec-Weglinski, Jerzy W.
TI Mechanistic Insights into Alternative Gene Splicing in Oxidative Stress
   and Tissue Injury
SO ANTIOXIDANTS & REDOX SIGNALING
LA English
DT Article
DE alternative splicing; CEACAM1; exons; ischemia/reperfusion injury;
   RNA-binding proteins; spliceosome
ID ANTISENSE MORPHOLINO OLIGONUCLEOTIDES; MESSENGER-RNA; ALU REPEATS;
   EXPRESSION; RECEPTOR; INFLAMMATION; SPLICEOSOME; PROTEINS;
   TRANSPLANTATION; IDENTIFICATION
AB Significance: Oxidative stress (OS) and inflammation are inducers of tissue injury. Alternative splicing (AS) is an essential regulatory step for diversifying the eukaryotic proteome. Human diseases link AS to OS; however, the underlying mechanisms must be better understood.Recent Advances: Genome-wide profiling studies identify new differentially expressed genes induced by OS-dependent ischemia/reperfusion injury. Overexpression of RNA-binding protein RBFOX1 protects against inflammation. Hypoxia-inducible factor-1 alpha directs polypyrimidine tract binding protein 1 to regulate mouse carcinoembryonic antigen-related cell adhesion molecule 1 (Ceacam1) AS under OS conditions. Heterogeneous nuclear ribonucleoprotein L variant 1 contains an RGG/RG motif that coordinates with transcription factors to influence human CEACAM1 AS. Hypoxia intervention involving short interfering RNAs directed to long-noncoding RNA 260 polarizes M2 macrophages toward an anti-inflammatory phenotype and alleviates OS by inhibiting IL-28RA gene AS.Critical Issues: Protective mechanisms that eliminate reactive oxygen species (ROS) are important for resolving imbalances that lead to chronic inflammation. Defects in AS can cause ROS generation, cell death regulation, and the activation of innate and adaptive immune factors. We propose that AS pathways link redox regulation to the activation or suppression of the inflammatory response during cellular stress.Future Directions: Emergent studies using molecule-mediated RNA splicing are being conducted to exploit the immunogenicity of AS protein products. Deciphering the mechanisms that connect misspliced OS and pathologies should remain a priority. Controlled release of RNA directly into cells with clinical applications is needed as the demand for innovative nucleic acid delivery systems continues to be demonstrated.
C1 [Dery, Kenneth J.; Wong, Zeriel; Wei, Megan; Kupiec-Weglinski, Jerzy W.] UCLA, Dumont UCLA Transplantat Ctr, David Geffen Sch Med, Dept Surg,Div Liver & Pancreas Transplantat, Los Angeles, CA USA.
   [Dery, Kenneth J.] UCLA, Dumont UCLA Transplantat Ctr, David Geffen Sch Med, Dept Surg,Div Liver & Pancreas Transplantat, 630 Charles East Young Dr South, Los Angeles, CA 90095 USA.
C3 University of California System; University of California Los Angeles;
   University of California Los Angeles Medical Center; David Geffen School
   of Medicine at UCLA; University of California System; University of
   California Los Angeles; University of California Los Angeles Medical
   Center; David Geffen School of Medicine at UCLA
RP Dery, KJ (corresponding author), UCLA, Dumont UCLA Transplantat Ctr, David Geffen Sch Med, Dept Surg,Div Liver & Pancreas Transplantat, 630 Charles East Young Dr South, Los Angeles, CA 90095 USA.
EM kdery@mednet.ucla.edu
OI Dery, Kenneth/0000-0003-4238-4092
FU NIH [P01 AI120944, R01 DK062357, R01 DK107533, R01 DK102110]
FX This work was supported by NIH grants P01 AI120944, R01 DK062357, R01
   DK107533, and R01 DK102110 ( JerzyW. Kupiec-Weglinski).
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NR 169
TC 5
Z9 5
U1 2
U2 7
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1523-0864
EI 1557-7716
J9 ANTIOXID REDOX SIGN
JI Antioxid. Redox Signal.
PD NOV 1
PY 2024
VL 41
IS 13-15
BP 890
EP 909
DI 10.1089/ars.2023.0437
EA NOV 2023
PG 20
WC Biochemistry & Molecular Biology; Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Endocrinology & Metabolism
GA N1R0J
UT WOS:001140180400001
PM 37776178
DA 2025-04-10
ER

PT J
AU Kornienko, J
   Rodríguez-Martínez, M
   Fenzl, K
   Hinze, F
   Schraivogel, D
   Grosch, M
   Tunaj, B
   Lindenhofer, D
   Schraft, L
   Kueblbeck, M
   Smith, E
   Mao, CD
   Brown, E
   Owens, A
   Saguner, AM
   Meder, B
   Parikh, V
   Gotthardt, M
   Steinmetz, LM
AF Kornienko, Julia
   Rodriguez-Martinez, Marta
   Fenzl, Kai
   Hinze, Florian
   Schraivogel, Daniel
   Grosch, Markus
   Tunaj, Brigit
   Lindenhofer, Dominik
   Schraft, Laura
   Kueblbeck, Moritz
   Smith, Eric
   Mao, Chad
   Brown, Emily
   Owens, Anjali
   Saguner, Ardan M. M.
   Meder, Benjamin
   Parikh, Victoria
   Gotthardt, Michael
   Steinmetz, Lars M. M.
TI Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy
   is caused by loss-of-interaction with Transportin-3
SO NATURE COMMUNICATIONS
LA English
DT Article
ID NUCLEAR-IMPORT; PROTEIN; MUTATIONS; GENE; PHOSPHORYLATION; DATABASE
AB The authors show that loss-of-interaction with the nuclear importer, TNPO3, causes cytoplasmic mislocalization of RBM20 variants linked to severe cases of dilated cardiomyopathy. Restoring their nuclear localization alleviates the disease phenotype.
   Severe forms of dilated cardiomyopathy (DCM) are associated with point mutations in the alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich domain (RS-domain). Such mutations can cause defective splicing and cytoplasmic mislocalization, which leads to the formation of detrimental cytoplasmic granules. Successful development of personalized therapies requires identifying the direct mechanisms of pathogenic RBM20 variants. Here, we decipher the molecular mechanism of RBM20 mislocalization and its specific role in DCM pathogenesis. We demonstrate that mislocalized RBM20 RS-domain variants retain their splice regulatory activity, which reveals that aberrant cellular localization is the main driver of their pathological phenotype. A genome-wide CRISPR knockout screen combined with image-enabled cell sorting identified Transportin-3 (TNPO3) as the main nuclear importer of RBM20. We show that the direct RBM20-TNPO3 interaction involves the RS-domain, and is disrupted by pathogenic variants. Relocalization of pathogenic RBM20 variants to the nucleus restores alternative splicing and dissolves cytoplasmic granules in cell culture and animal models. These findings provide proof-of-principle for developing therapeutic strategies to restore RBM20's nuclear localization in RBM20-DCM patients.
C1 [Kornienko, Julia; Rodriguez-Martinez, Marta; Fenzl, Kai; Schraivogel, Daniel; Grosch, Markus; Tunaj, Brigit; Lindenhofer, Dominik; Schraft, Laura; Kueblbeck, Moritz; Steinmetz, Lars M. M.] European Mol Biol Lab EMBL, Genome Biol Unit, Heidelberg, Germany.
   [Kornienko, Julia] Heidelberg Univ, Fac Biosci, Heidelberg, Germany.
   [Kornienko, Julia; Fenzl, Kai; Grosch, Markus; Steinmetz, Lars M. M.] DZHK, German Ctr Cardiovasc Res, Partner site Heidelberg Mannheim, Heidelberg, Germany.
   [Hinze, Florian; Gotthardt, Michael] Mol Med Helmholtz Assoc, Max Delbruck Ctr, Berlin, Germany.
   [Hinze, Florian; Gotthardt, Michael] German Ctr Cardiovasc Res DZHK, Partner Site Berlin, Berlin, Germany.
   [Hinze, Florian; Gotthardt, Michael] Charite Univ Med Berlin, Berlin, Germany.
   [Grosch, Markus; Steinmetz, Lars M. M.] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA.
   [Smith, Eric] Univ Michigan, Ann Arbor, MI USA.
   [Mao, Chad] Childrens Healthcare Atlanta, Atlanta, GA USA.
   [Mao, Chad] Emory Univ, Atlanta, GA USA.
   [Brown, Emily] Johns Hopkins Univ Hosp, Baltimore, MD USA.
   [Owens, Anjali] Univ Penn, Philadelphia, PA USA.
   [Saguner, Ardan M. M.] Univ Heart Ctr Zurich, Univ Hosp Zurich, Dept Cardiol, Zurich, Switzerland.
   [Meder, Benjamin] Univ Hosp Heidelberg, Cardiogenet Ctr Heidelberg, Dept Cardiol Angiol & Pulmol, Heidelberg, Germany.
   [Parikh, Victoria] Stanford Univ, Stanford Ctr Inherited Cardiovasc Dis, Dept Med, Div Cardiovasc Med,Sch Med, Stanford, CA USA.
   [Steinmetz, Lars M. M.] Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA.
C3 European Molecular Biology Laboratory (EMBL); Ruprecht Karls University
   Heidelberg; German Centre for Cardiovascular Research; Helmholtz
   Association; Max Delbruck Center for Molecular Medicine; German Centre
   for Cardiovascular Research; Berlin Institute of Health; Free University
   of Berlin; Humboldt University of Berlin; Charite Universitatsmedizin
   Berlin; Stanford University; University of Michigan System; University
   of Michigan; Children's Healthcare of Atlanta (CHOA); Emory University;
   Johns Hopkins University; Johns Hopkins Medicine; University of
   Pennsylvania; University of Zurich; University Zurich Hospital; Ruprecht
   Karls University Heidelberg; Stanford University; Stanford University
RP Steinmetz, LM (corresponding author), European Mol Biol Lab EMBL, Genome Biol Unit, Heidelberg, Germany.; Steinmetz, LM (corresponding author), DZHK, German Ctr Cardiovasc Res, Partner site Heidelberg Mannheim, Heidelberg, Germany.; Steinmetz, LM (corresponding author), Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA.; Steinmetz, LM (corresponding author), Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA.
EM Lars.Steinmetz@stanford.edu
RI Schraivogel, Daniel/B-2967-2013; Gotthardt, Michael/ABE-8274-2021;
   Saguner, Ardan Muammer/JJD-2742-2023; Fenzl, Kai/KCJ-6274-2024;
   Kornienko, Julia/V-9857-2018
OI Steinmetz, Lars/0000-0002-3962-2865; Grosch, Markus/0000-0001-9016-8920;
   Lindenhofer, Dominik/0000-0001-8838-7163; Fenzl,
   Kai/0000-0001-8097-7740; Saguner, Ardan Muammer/0000-0003-1896-0803;
   Kornienko, Julia/0000-0002-7876-230X; Gotthardt,
   Michael/0000-0003-1788-3172; Smith, Eric/0000-0002-5915-9492
FU EMBL Proteomics Core Facility (PCF); BMBF [DZHK 81Z0500401]; DFG [SFB
   1550/1, SFB 1470/1]; Leducq Fondation; CASTT; German Centre for
   Cardiovascular Research (DZHK); EMBL Interdisciplinary Postdoc (EIPOD)
   Programme under Marie Curie Cofund Actions MSCA-COFUND-FP research
   fellowship [847543]; Human Frontier Science Program Long-Term Fellowship
   [HFSP-LT0023/2022-L]; NIH [T32-HL007853]; Georg und Bertha
   Schwyzer-Winiker Foundation; Baugarten Foundation; USZ Foundation; Swiss
   Heart Foundation [FF17019, FF21073]; NHLBI K08 [HL143185]; Jon Taylor
   Babbitt Foundation; National Heart Lung and Blood Institute
   [T32HL007853] Funding Source: NIH RePORTER
FX We thank S. Clauder-Muenster, B. Goldbrich, J. Froehlich for technical
   support; A. Grozhik and S. Clauder-Muenster for their work on
   engineering the RBM20 mouse lines; B. Rauscher for providing scripts and
   guidance for CRISPR-screen data analysis and interpretation; F. Briganti
   for providing iPSC lines; P. Blainey for providing Tet::Cas9 HeLa cell
   line; M. Mall, M. Azodi for generating and providing plasmid constructs;
   D. Moonen, M. Krause for experimental support; T. Seeger for advising on
   iPSC-CM differentiation; G. Chojnowski for advice and help with
   structural modeling; EMBL Proteomics Core Facility (PCF) for support, P.
   Haberkant and F. Stein for performing mass-spectrometry experiments and
   processing the data; EMBL Genetic and Viral Engineering Facility for
   services, A. Castillo and J. Sawitzke for engineering and titrating the
   AAV9 virus; EMBL Genomics Core Facility for next-generation sequencing
   services, V. Benes, L. Villacorta, F. Jung for advice; EMBL Flow
   Cytometry Core Facility for support, advice, instrument maintenance, and
   sorting services; EMBL Advanced Light Microscopy Facility for support,
   A. Khan for computational help with quantifying in vivo RBM20 granules;
   EMBL Laboratory Animal Resources (LAR) for maintenance and support, F.
   Diego Montoya Castillo for performing mouse injections, organ
   harvesting, and support. BMBF-DZHK 81Z0500401 (to L.M.S.); DFG-SFB
   1550/1 (to L.M.S. and B.M.). DFG-SFB 1470/1 (to M.Go.). Leducq
   Fondation, CASTT (to V.P., B.M., M.Go., and L.M.S.); the German Centre
   for Cardiovascular Research (DZHK) (to B.M.); the EMBL Interdisciplinary
   Postdoc (EIPOD) Programme under Marie Curie Cofund Actions
   MSCA-COFUND-FP research fellowship (grant agreement number 847543, to
   K.F.); the Human Frontier Science Program Long-Term Fellowship
   (HFSP-LT0023/2022-L, to D.L.); NIH T32-HL007853 (to E.S.); The Zurich
   ACM Program is supported by the Georg und Bertha Schwyzer-Winiker
   Foundation, Baugarten Foundation, USZ Foundation (Dr. Wild Grant), and
   Swiss Heart Foundation grant no. FF17019 and FF21073 (to A.M.S.); NHLBI
   K08 (HL143185) and support from the Jon Taylor Babbitt Foundation (to
   V.N.P.).
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NR 71
TC 11
Z9 12
U1 0
U2 7
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
EI 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD JUL 18
PY 2023
VL 14
IS 1
DI 10.1038/s41467-023-39965-6
PG 20
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA N5HN9
UT WOS:001037322100039
PM 37463913
OA gold, Green Accepted, Green Published
DA 2025-04-10
ER

PT J
AU Miller, M
   Zeller, K
AF Miller, M
   Zeller, K
TI Alternative splicing in lecithin:cholesterol acyltransferase mRNA: An
   evolutionary paradigm in humans and great apes
SO GENE
LA English
DT Article
DE LCAT; Alu sequence; molecular evolution
ID MEDIATED INSERTION; MESSENGER-RNA; ALU SEQUENCE; GENE; CDNA; EXPRESSION;
   PROTEINS; ALLELES; FAMILY
AB Lecithin:cholesterol acyltransferase (LCAT), an important enzyme affecting reverse cholesterol transport, is expressed in liver and cultured fibroblasts. Sequencing of LCAT cDNA clones demonstrated the coexistence of two mRNA products. In addition to the normal transcript, we identified an alternate message with a splice-mediated insertion of a 95 bp Alu cassette at the junction of exons 5 and 6. In humans, the alternate transcript represents 5-20% of the complete LCAT message in cultured fibroblasts and liver. It is present in humans and the great apes but not in lesser apes (gibbon, siamang) or lower-order primates (e.g., old or new world monkeys). Sequencing of intron 5 of the LCAT locus in several primates revealed a G-->A transition at the splice donor recognition site in the Alu repeat of the gibbon and a G-->A substitution in the last position of the 95 bp Alu sequence of the rhesus monkey, an old world monkey. Both substitutions have been associated with exon skipping in other genes. These results demonstrate that alternative splicing of LCAT mRNA is variant among primates and suggest a potential role of Alu elements in the evolutionary diversity of proteins. (C) 1997 Elsevier Science B.V.
C1 UNIV MARYLAND,MED CTR,BALTIMORE,MD 21201.
C3 University System of Maryland; University of Maryland Baltimore
RP Miller, M (corresponding author), VET AFFAIRS MED CTR,DEPT MED,DIV CARDIOL,BALTIMORE,MD 21201, USA.
RI Miller, Michael/AGX-6773-2022
OI MILLER, MICHAEL/0000-0002-1679-2095
FU NHLBI NIH HHS [R29HL52663] Funding Source: Medline
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NR 18
TC 8
Z9 8
U1 0
U2 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD MAY 6
PY 1997
VL 190
IS 2
BP 309
EP 313
DI 10.1016/S0378-1119(97)00022-X
PG 5
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA XC854
UT WOS:A1997XC85400012
PM 9197549
DA 2025-04-10
ER

PT J
AU Zerbini, G
   Maestroni, A
   Breviario, D
   Mangili, R
   Casari, G
AF Zerbini, G
   Maestroni, A
   Breviario, D
   Mangili, R
   Casari, G
TI Alternative splicing of NHE-1 mediates Na-Li countertransport and
   associates with activity rate
SO DIABETES
LA English
DT Article
ID SODIUM-LITHIUM COUNTERTRANSPORT; NA+/H+ ANTIPORT ACTIVITY; RED-CELLS;
   IMMORTALIZED LYMPHOBLASTS; HYDROGEN EXCHANGE; HYPERTENSION; TRANSPORT;
   GROWTH; ERYTHROCYTES; FIBROBLASTS
AB Sodium-lithium countertransport (SLC) is an ouabain-insensitive exchange of Na for Li found in the erythrocyte membrane of several mammalian species. Although increased SLC activity is presently the most consistent intermediate phenotype of essential hypertension and diabetic nephropathy in humans, the gene responsible for this membrane transport has not been identified. Because of functional similarities, SLC was suggested to represent an in vitro mode of operation of the Na-H exchanger (NHE). This hypothesis, however, has been long hampered by the total insensitivity of SLC to amiloride, which is an intrinsic inhibitor of the first isoform of NHE, the only NHE isoform detected in human erythrocytes. We describe here the identification in human reticulocytes and erythrocytes of an alternative splicing of NHE lacking the amiloride binding site. Transfection experiments with this spliced variant restore amiloride-insensitive, phloretin-sensitive SLC activity. Expression of both regular and spliced transcripts of NHE is increased in subjects with high SLC activity. Altogether, these findings, by extending to NHE the characteristics of inheritance and predictivity previously attributed to SLC, eventually restore the candidacy of NHE isoform 1 as a gene involved in the pathogenesis of essential hypertension and diabetic nephropathy. Diabetes 52:1511-1518, 2003.
C1 Ist Sci San Raffaele, Div Med, Renal Pathophysiol Lab, I-20132 Milan, Italy.
   CNR, Ist Biosintesi Vegetali, I-20133 Milan, Italy.
   Ist Sci San Raffaele, Dibit, Human Mol Genet Unit, I-20132 Milan, Italy.
C3 Vita-Salute San Raffaele University; IRCCS Ospedale San Raffaele;
   Consiglio Nazionale delle Ricerche (CNR); Vita-Salute San Raffaele
   University; IRCCS Ospedale San Raffaele
RP Ist Sci San Raffaele, Div Med 1, Via Olgerrina 60, I-20132 Milan, Italy.
EM g.zerbini@hsr.it
RI Zerbini, Gianpaolo/K-6723-2016; Breviario, Diego/AAX-6378-2020; CASARI,
   Giorgio/J-3070-2018
OI Breviario, Diego/0000-0002-3062-7598; CASARI,
   Giorgio/0000-0002-0115-8980
FU Telethon [E.0816] Funding Source: Medline
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NR 39
TC 20
Z9 25
U1 0
U2 2
PU AMER DIABETES ASSOC
PI ALEXANDRIA
PA 1701 N BEAUREGARD ST, ALEXANDRIA, VA 22311-1717 USA
SN 0012-1797
EI 1939-327X
J9 DIABETES
JI Diabetes
PD JUN
PY 2003
VL 52
IS 6
BP 1511
EP 1518
DI 10.2337/diabetes.52.6.1511
PG 8
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA 683UD
UT WOS:000183167600027
PM 12765964
OA Bronze
DA 2025-04-10
ER

PT J
AU Romberger, DJ
AF Romberger, DJ
TI Fibronectin
SO INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
LA English
DT Article
DE extracellular matrix; fibronectin; cell-cell interactions; mRNA splicing
ID INTEGRIN RECEPTOR; ADHESION; MATRIX; EXPRESSION; ARTHRITIS
AB Fibronectin is a glycoprotein consisting of repeating units of amino acids, which form domains that enable the molecule to interact with a variety of cells through both integrin and non-integrin receptors. It is encoded by a single gene, but alternative splicing of pre-mRNA allows formation of multiple isoforms that have critical roles in cell adhesion, migration and proliferation. The essential nature of fibronectin in development has clearly been demonstrated in a ''knock-out'' mouse model in which early lethality occurs. Fibronectin influences diverse processes including inflammation, wound repair, malignant metastasis, microorganism attachment and thrombosis. Researchers are currently developing tools, including synthetic peptides based on specific fibronectin regions. These molecules have been shown to alter processes such as lymphocyte binding in synovial tissue of rheumatoid arthritis, coronary arteriopathy in animal models of cardiac transplantation, and platelet aggregation in patients, and are thus providing important new therapeutic possibilities.
RP Romberger, DJ (corresponding author), DEPT INTERNAL MED, PULM & CRIT CARE MED SECT, 600 S 42ND ST, OMAHA, NE 68198 USA.
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Z9 159
U1 1
U2 10
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 1357-2725
J9 INT J BIOCHEM CELL B
JI Int. J. Biochem. Cell Biol.
PD JUL
PY 1997
VL 29
IS 7
BP 939
EP 943
DI 10.1016/S1357-2725(96)00172-0
PG 5
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA YG137
UT WOS:A1997YG13700003
PM 9375374
DA 2025-04-10
ER

PT J
AU Gong, QM
   Stump, MR
   Zhou, ZF
AF Gong, Qiuming
   Stump, Matthew R.
   Zhou, Zhengfeng
TI Upregulation of functional Kv11.1 isoform expression by inhibition of
   intronic polyadenylation with antisense morpholino oligonucleotides
SO JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
LA English
DT Article
DE Potassium channels; hERG; Alternative polyadenylation; Morpholino; Long
   QT syndrome
ID LONG-QT SYNDROME; POTASSIUM CHANNEL; ALTERNATIVE CLEAVAGE;
   CARDIAC-ARRHYTHMIA; HERG MUTATIONS; MECHANISM; IDENTIFICATION;
   RECTIFIER; RESCUES; FAMILY
AB The KCNH2 gene encodes the Kv11.1 potassium channel that conducts the rapidly activating delayed rectifier current in the heart. KCNH2 pre-mRNA undergoes alternative processing; intron 9 splicing leads to the formation of a functional, full-length Kv11.1a isoform, while polyadenylation within intron 9 generates a non-functional, C-terminally truncated Kv11.1a-USO isoform. The relative expression of Kv11.1 isoforms plays an important role in the regulation of Kv11.1 channel function and the pathogenesis of long QT syndrome. In this study, we identified cis-acting elements that are required for KCNH2 intron 9 poly(A) signal activity. Mutation of these elements decreased Kv11.1a-USO expression and increased the expression of Kv11.1a mRNA, protein and channel current. More importantly, blocking these elements by antisense morpholino oligonucleotides shifted the alternative processing of KCNH2 intron 9 from the polyadenylation to the splicing pathway, leading to the predominant production of Kv11.1a and a significant increase in Kv11.1 current. Our findings indicate that the expression of the Kv1.1a isoform can be upregulated by an antisense approach. Antisense inhibition of KCNH2 intronic polyadenylation represents a novel approach to increase Kv11.1 channel function. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Gong, Qiuming; Stump, Matthew R.; Zhou, Zhengfeng] Oregon Hlth & Sci Univ, Knight Cardiovasc Inst, Portland, OR 97239 USA.
C3 Oregon Health & Science University
RP Zhou, ZF (corresponding author), Oregon Hlth & Sci Univ, Knight Cardiovasc Inst, Portland, OR 97239 USA.
EM zhouzh@ohsu.edu
FU NIH [HL68854, T32HL094294]
FX This study was supported by the NIH grant HL68854 (ZZ). Dr. Stump is
   supported by the NIH training grant T32HL094294.
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Z9 10
U1 0
U2 3
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0022-2828
EI 1095-8584
J9 J MOL CELL CARDIOL
JI J. Mol. Cell. Cardiol.
PD NOV
PY 2014
VL 76
BP 26
EP 32
DI 10.1016/j.yjmcc.2014.08.007
PG 7
WC Cardiac & Cardiovascular Systems; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Cell Biology
GA AS3UF
UT WOS:000344202800004
PM 25128783
OA Green Published, Green Accepted
DA 2025-04-10
ER

PT J
AU Bolotin, E
   Armendariz, A
   Kim, K
   Heo, SJ
   Boffelli, D
   Tantisira, K
   Rotter, JI
   Krauss, RM
   Medina, MW
AF Bolotin, Eugene
   Armendariz, Angela
   Kim, Kyungpil
   Heo, Seok-Jin
   Boffelli, Dario
   Tantisira, Kelan
   Rotter, Jerome I.
   Krauss, Ronald M.
   Medina, Marisa W.
TI Statin-induced changes in gene expression in EBV-transformed and native
   B-cells
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID EPSTEIN-BARR-VIRUS; GENOME-WIDE ANALYSIS; C-MYC EXPRESSION;
   LYMPHOBLASTOID-CELLS; ASSOCIATION; REDUCTASE; SITES
AB Human lymphoblastoid cell lines (LCLs), generated through Epstein-Barr Virus (EBV) transformation of B-lymphocytes (B-cells), are a commonly used model system for identifying genetic influences on human diseases and on drug responses. We have previously used LCLs to examine the cellular effects of genetic variants that modulate the efficacy of statins, the most prescribed class of cholesterol-lowering drugs used for the prevention and treatment of cardiovascular disease. However, statin-induced gene expression differences observed in LCLs may be influenced by their transformation, and thus differ from those observed in native B-cells. To assess this possibility, we prepared LCLs and purified B-cells from the same donors, and compared mRNA profiles after 24 h incubation with simvastatin (2 mu M) or sham buffer. Genes involved in cholesterol metabolism were similarly regulated between the two cell types under both the statin and sham-treated conditions, and the statin-induced changes were significantly correlated. Genes whose expression differed between the native and transformed cells were primarily implicated in cell cycle, apoptosis and alternative splicing. We found that ChIP-seq signals for MYC and EBNA2 (an EBV transcriptional co-activator) were significantly enriched in the promoters of genes up-regulated in the LCLs compared with the B-cells, and could be involved in the regulation of cell cycle and alternative splicing. Taken together, the results support the use of LCLs for the study of statin effects on cholesterol metabolism, but suggest that drug effects on cell cycle, apoptosis and alternative splicing may be affected by EBV transformation.
   This dataset is now uploaded to GEO at the accession number GSE51444
C1 [Bolotin, Eugene; Armendariz, Angela; Kim, Kyungpil; Heo, Seok-Jin; Boffelli, Dario; Krauss, Ronald M.; Medina, Marisa W.] Childrens Hosp Oakland Res Inst, Oakland, CA 94609 USA.
   [Tantisira, Kelan] Brigham & Womens Hosp, Channing Div Network Med, Boston, MA 02115 USA.
   [Kim, Kyungpil] Univ Calif Berkeley, Dept Stat, Berkeley, CA 94720 USA.
   [Rotter, Jerome I.] Harbor UCLA Med Ctr, Los Angeles Biomed Res Inst, Torrance, CA 90502 USA.
C3 University of California System; University of California San Francisco;
   UCSF Medical Center; UCSF Benioff Children's Hospital Oakland;
   Children's Hospital Oakland Research Institute; Harvard University;
   Harvard University Medical Affiliates; Brigham & Women's Hospital;
   University of California System; University of California Berkeley;
   University of California System; University of California Los Angeles;
   University of California Los Angeles Medical Center; Lundquist Institute
RP Medina, MW (corresponding author), Childrens Hosp Oakland Res Inst, 5700 Martin Luther King Jr Way, Oakland, CA 94609 USA.
EM mwmedina@chori.org
RI Boffelli, Dario/K-3959-2014; Krauss, Ronald M./LTD-4078-2024; Rotter,
   Jerome/AAY-6598-2021
OI Tantisira, Kelan/0000-0003-2950-3384; Heo, Seok-Jin/0009-0004-4830-8319
FU National Institute of Health [1T32 HL 098057-01, U19 HL069757, R01 HL
   1041 33, U01 HL 065899, R01 HL 092197, R01 NR 013391]; Dairy Research
   Institute (DMI) [1052]; National Institute of Diabetes and Digestive and
   Kidney Diseases [P30DK026743] Funding Source: NIH RePORTER
FX We thank Elizabeth Theusch for helpful discussions. This work was
   supported by National Institute of Health (1T32 HL 098057-01, U19
   HL069757, R. M. K. and E. B.), (R01 HL 1041 33 M. W. M.), (U01 HL
   065899, R01 HL 092197, R01 NR 013391 K. T.) and Dairy Research Institute
   (DMI# 1052, R.M.K.).
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NR 51
TC 14
Z9 16
U1 0
U2 7
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD MAR 1
PY 2014
VL 23
IS 5
BP 1202
EP 1210
DI 10.1093/hmg/ddt512
PG 9
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AB5FT
UT WOS:000331815000007
PM 24179175
OA Green Published
DA 2025-04-10
ER

PT J
AU Frisso, G
   Detta, N
   Coppola, P
   Mazzaccara, C
   Pricolo, MR
   D'Onofrio, A
   Limongelli, G
   Calabro, R
   Salvatore, F
AF Frisso, Giulia
   Detta, Nicola
   Coppola, Pamela
   Mazzaccara, Cristina
   Pricolo, Maria Rosaria
   D'Onofrio, Antonio
   Limongelli, Giuseppe
   Calabro, Raffaele
   Salvatore, Francesco
TI Functional Studies and In Silico Analyses to Evaluate Non-Coding
   Variants in Inherited Cardiomyopathies
SO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
LA English
DT Article
DE minigene; splicing analysis; inherited cardiomyopathies; non-coding
   variations; intronic mutations; SCN5A; MYBPC3; ACTC1
ID SPLICING MUTATIONS; RNA; PREDICTION; PROTEIN; BRCA1
AB Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic variants can reveal their impact on the splicing process, but the consequence of a given substitution is generally not predictable. The aim of this study was to functionally test five intronic variants (MYBPC3-c.506-2A>C, MYBPC3-c.906-7G>T, MYBPC3-c.2308+3G>C, SCN5A-c.393-5C>A, and ACTC1-c.617-7T>C) found in five patients affected by inherited cardiomyopathies in the attempt to verify their pathogenic role. Analysis of the MYBPC3-c.506-2A>C mutation in mRNA from the peripheral blood of one of the patients affected by hypertrophic cardiac myopathy revealed the loss of the canonical splice site and the use of an alternative splicing site, which caused the loss of the first seven nucleotides of exon 5 (MYBPC3-G169AfsX14). In the other four patients, we generated minigene constructs and transfected them in HEK-293 cells. This minigene approach showed that MYBPC3-c.2308+3G>C and SCN5A-c.393-5C>A altered pre-mRNA processing, thus resulting in the skipping of one exon. No alterations were found in either MYBPC3-c.906-7G>T or ACTC1-c.617-7T>C. In conclusion, functional in vitro analysis of the effects of potential splicing mutations can confirm or otherwise the putative pathogenicity of non-coding mutations, and thus help to guide the patient's clinical management and improve genetic counseling in affected families.
C1 [Frisso, Giulia; Detta, Nicola; Coppola, Pamela; Mazzaccara, Cristina; Salvatore, Francesco] CEINGE Biotecnol Avanzate Scarl, I-80145 Naples, Italy.
   [Frisso, Giulia; Coppola, Pamela; Mazzaccara, Cristina; Pricolo, Maria Rosaria] Univ Napoli Federico II, Dipartimento Med Mol & Biotecnol Med, I-80131 Naples, Italy.
   [D'Onofrio, Antonio; Limongelli, Giuseppe; Calabro, Raffaele] Seconda Univ Napoli, Dipartimento Cardiol, AO Monaldi, Azienda Colli, I-80131 Naples, Italy.
   [Salvatore, Francesco] IRCCS Fdn SDN, I-80143 Naples, Italy.
C3 CEINGE Biotecnologie Avanzate; University of Naples Federico II;
   Universita della Campania Vanvitelli; IRCCS Istituto di Ricerca
   Diagnostica e Nucleare (SDN)
RP Salvatore, F (corresponding author), CEINGE Biotecnol Avanzate Scarl, I-80145 Naples, Italy.; Salvatore, F (corresponding author), IRCCS Fdn SDN, I-80143 Naples, Italy.
EM gfrisso@unina.it; detta@ceinge.unina.it; coppolap@ceinge.unina.it;
   cristina.mazzaccara@unina.it; mariarosaria.pricolo@unina.it;
   donofrioant@iol.it; limongelligiuseppe@libero.it;
   raffaele.calabro@unina2.it; salvator@unina.it
RI D'Onofrio, Antonio/AAL-7993-2020; Frisso, Giulia/A-5675-2014;
   Mazzaccara, Cristina/AAC-5361-2022; Salvatore, Francesco/A-1966-2011;
   Pricolo, Maria Rosaria/T-9200-2019; LImongelli, Giuseppe/K-4885-2018
OI Salvatore, Francesco/0000-0002-2346-3564; Pricolo, Maria
   Rosaria/0000-0002-6362-780X; LImongelli, Giuseppe/0000-0002-8291-9517;
   D'Onofrio, Antonio/0000-0002-8739-5572; FRISSO,
   Giulia/0000-0003-3487-7743; Detta, Nicola/0009-0007-0877-9839;
   Mazzaccara, Cristina/0000-0001-7774-2799
FU Italian Ministry of University and Research [PON03PE_00060_2,
   PON03PE_00060_7]
FX This work was supported by Grant PON03PE_00060_2 and PON03PE_00060_7
   (Campania-Bioscience) from the Italian Ministry of University and
   Research (to Francesco Salvatore). The authors thank Jean Ann Gilder
   (Scientific Communication srl., Naples, Italy) for editing the text, and
   Vittorio Lucignano, CEINGE-BiotecnologieAvanzate, for technical
   assistance.
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   World Med Assoc, 2013, JAMA-J AM MED ASSOC, V310, P2191, DOI 10.1001/jama.2013.281053
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NR 30
TC 26
Z9 28
U1 0
U2 4
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 1422-0067
J9 INT J MOL SCI
JI Int. J. Mol. Sci.
PD NOV
PY 2016
VL 17
IS 11
AR 1883
DI 10.3390/ijms17111883
PG 13
WC Biochemistry & Molecular Biology; Chemistry, Multidisciplinary
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Chemistry
GA ED4HV
UT WOS:000388809600116
PM 27834932
OA Green Published, gold, Green Submitted
DA 2025-04-10
ER

PT J
AU Dircksen, H
AF Dircksen, Heinrich
TI Insect ion transport peptides are derived from alternatively spliced
   genes and differentially expressed in the central and peripheral nervous
   system
SO JOURNAL OF EXPERIMENTAL BIOLOGY
LA English
DT Review
DE Carausius morosus; Schistocerca gregaria; Locusta migratoria; Bombyx
   mori; Manduca sexta; Drosophila melanogaster; Carcinus maenas; locust;
   hindgut; ion transport peptide; antidiuretic hormones; alternative
   splicing; neurosecretory cells; perisympathetic organs; corpus
   cardiacum; corpus allatum; homeostasis; reabsorption; water uptake
ID CRUSTACEAN-HYPERGLYCEMIC-HORMONE; AMINO-ACID-SEQUENCE; MALPIGHIAN
   TUBULES; CHLORIDE TRANSPORT; CORPORA CARDIACA; CORPUS CARDIACUM;
   CARCINUS-MAENAS; FLUID TRANSPORT; LOCUST RECTUM; SHORE CRAB
AB Insect ionic and fluid homeostasis relies upon the Malpighian tubules (MT) and different hindgut compartments. Primary urine formed in MTs is finally modified by ion, solute and water reabsorptive processes primarily in the hindgut under the control of several large peptide hormones. One of these, the ion transport peptide (ITP), is a chloride transport-stimulating and acid secretion-inhibiting hormone similar to crustacean hyperglycaemic hormones (CHHs). In locusts, moths and fruit flies, ITP together with the slightly longer ITPL isoforms, inactive in hindgut bioassays, arise by alternative splicing from very similar itp genes. ITP and ITPL are differentially distributed in (1) pars lateralis/retrocerebral complex neurosecretory cells (NSCs) containing both splice forms, (2) interneurons with either one of the splice forms, (3) hindgut-innervating abdominal ITP neurons (in Drosophila only), and (4) intrinsic, putative sensory NSCs in peripheral neurohaemal perisympathetic/perivisceral organs or transverse nerves (usually containing ITPL). Both splice forms occur as hormones released into the haemolymph in response to feeding or stress stimuli. ITPL mainly released from the peripheral NSCs is discussed as a competitive inhibitor (as established in vitro) of ITP action on yet to be identified hindgut ITP receptors. Furthermore, some evidence has been provided for possible ecdysis-related functions of ITP and/or ITPL in moths. The comparative data on the highly similar gene, precursor and primary structures and similar differential distributions in insect and crustacean NSCs suggest that CHH/ITP and ITPL neuropeptide-producing cells and their gene products share common phylogenetic ancestry.
C1 Stockholm Univ, Dept Zool, S-10691 Stockholm, Sweden.
C3 Stockholm University
RP Dircksen, H (corresponding author), Stockholm Univ, Dept Zool, Svante Arrhenius Vag 14, S-10691 Stockholm, Sweden.
EM dircksen@zoologi.su.se
RI Dircksen, Heinrich/C-7704-2013
OI Dircksen, Heinrich/0000-0001-7815-4868
FU Carl Tryggers Foundation, Stockholm, Sweden
FX wish to thank Dr Dick R. Nassel, Stockholm, Sweden, and an anonymous
   reviewer for helpful comments on the manuscript and its English style.
   This work has been partially supported by the Carl Tryggers Foundation,
   Stockholm, Sweden.
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NR 93
TC 58
Z9 60
U1 1
U2 15
PU COMPANY BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING, STATION RD, HISTON, CAMBRIDGE CB24 9LF, ENGLAND
SN 0022-0949
EI 1477-9145
J9 J EXP BIOL
JI J. Exp. Biol.
PD FEB 1
PY 2009
VL 212
IS 3
BP 401
EP 412
DI 10.1242/jeb.026112
PG 12
WC Biology; Zoology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Life Sciences & Biomedicine - Other Topics; Zoology
GA 396HD
UT WOS:000262581900016
PM 19151215
OA Green Submitted
DA 2025-04-10
ER

PT J
AU Münch, C
   Zhu, BG
   Leven, A
   Stamm, S
   Einkörn, H
   Schwalenstöcker, B
   Ludolph, AC
   Riepe, MW
   Meyer, T
AF Münch, C
   Zhu, BG
   Leven, A
   Stamm, S
   Einkörn, H
   Schwalenstöcker, B
   Ludolph, AC
   Riepe, MW
   Meyer, T
TI Differential regulation of 5′ splice variants of the glutamate
   transporter EAAT2 in an in vivo model of chemical hypoxia induced by
   3-nitropropionic acid
SO JOURNAL OF NEUROSCIENCE RESEARCH
LA English
DT Article
DE glutamate; EAAT2; alternative splicing; hypoxia; 3-nitropropionic acid
ID AMYOTROPHIC-LATERAL-SCLEROSIS; RAT HIPPOCAMPAL SLICES; IN-VITRO;
   EXPRESSION; ISCHEMIA; BRAIN; INHIBITION; RECEPTOR; INCREASE; RELEASE
AB Defective glutamate uptake has been implicated as a pathogenic event of neuronal damage related to cerebral ischemia and hypoxia. In several models of ischemia-hypoxia, a reduced immunoreactivity and altered RNA expression of excitatory amino acid transporter 2 (EAAT2), the major excitatory amino acid transporter, have been reported. However, the gene regulation of EAAT2 under these conditions is incompletely understood. In this study, we investigated alternative splicing of EAAT2 in an in vivo mouse model of chemical hypoxia as induced by 3-nitropropionic acid (3-NP). The neurotoxin 3-NP is an inhibitor of mitochondrial energy production. Furthermore, it is known to inhibit glutamate reuptake directly, representing at least one of the mechanisms responsible for 3-NP-induced neurodegeneration. Here we report an expression analysis of five known (mEAAT2/5UT1-5) and two novel (mEAAT2/5UT6, -7) 5' splice variants of EAAT2 using semiquantitative PCR. The RNA expression was studied at 2, 12, 24, 48, and 72 hr and 7 days after 3-NP administration. mEAAT2/5UT4 and mEAAT2/5UT5 were up-regulated in the frontal cortex and down-regulated in the hippocampus 12-72 hr after chemical hypoxia. In the cerebellum, there was an increased expression of mEAAT2/5UT4 and a down-regulation of mEAAT2/5UT5. mEAAT2/5UT3 show a different regional expression pattern, being regulated in the cerebellum only. mEAAT2/5UT1-7 encoded distinct 5' regulatory sequences, including conserved elements of translational control. It is easily conceivable that expression alterations of 5' splice variants of EAAT2 are related to glutamate transporter malfunction after chemical hypoxia. Our findings contribute to the hypothesis that RNA splicing events can serve as a molecular mechanism of posthypoxic gene regulation. (C) 2003 Wiley-Liss, Inc.
C1 Univ Ulm, Dept Neurol, D-7900 Ulm, Germany.
   Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany.
   Humboldt Univ, Charite Hosp, Dept Neurol, Berlin, Germany.
C3 Ulm University; University of Erlangen Nuremberg; Berlin Institute of
   Health; Free University of Berlin; Humboldt University of Berlin;
   Charite Universitatsmedizin Berlin
RP Free Univ Berlin, Klinikum Charite, Neurol Klin, Augustenburger Pl 1, D-13353 Berlin, Germany.
EM thomas.meyer@charite.de
OI Meyer, Thomas/0000-0002-2736-7350
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NR 32
TC 24
Z9 27
U1 0
U2 0
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0360-4012
EI 1097-4547
J9 J NEUROSCI RES
JI J. Neurosci. Res.
PD MAR 15
PY 2003
VL 71
IS 6
BP 819
EP 825
DI 10.1002/jnr.10536
PG 7
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 651PA
UT WOS:000181327400009
PM 12605408
DA 2025-04-10
ER

PT J
AU Nezu, Y
   Kino, Y
   Sasagawa, N
   Nishino, I
   Ishiura, S
AF Nezu, Yuriko
   Kino, Yoshihiro
   Sasagawa, Noboru
   Nishino, Ichizo
   Ishiura, Shoichi
TI Expression of MBNL and CELF mRNA transcripts in muscles with myotonic
   dystrophy
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE alternative splicing; CUG-BP- and ETR-3-like family; muscleblind;
   myotonic dystrophy
ID REPEAT-BINDING-PROTEIN; CTG REPEAT; IN-VIVO; EXPANSION; CUGBP1; FAMILY;
   REGION; FOCI
AB Myotonic dystrophy type 1 (DM1) is an amosomal dominant disorder that causes muscle wasting, myotonia, cardiac conduction abnormalities, and other multi-systemic symptoms. Current evidence supports a pathogenic mechanism involving aberrantly expanded CTG repeats in the 3'-untranslated region of the DM protein kinase (DMPK) gene. The repeats are thought to recruit various RNA-binding proteins such as muscleblind-like (MBNL) proteins into foci in the nuclei of DM cells, resulting in loss of function. However, aberrant regulation of transcription or subsequent RNA processing of MBNL-family mRNAs might also be part of the pathogenic mechanism of DM. We used real-time RT-PCR analysis to examine the possibility that MBNL mRNA expression is altered in DM1 patients. We also examined mRNA expression for members of the CUG-BP and ETR-3-like factor (CELF) family of RNA-binding proteins given that CELF proteins regulate alternative splicing and are also implicated in DM. We found that DM1 muscles displayed aberrant regulation of alternative splicing as reported previously; however, the levels of MBNL and CELF mRNA expression did not show any significant changes. Our results suggest that the expression and stability of the mRNA for these RNA-binding proteins are unaffected in DM1. (c) 2007 Elsevier B.V. All rights reserved.
C1 Univ Tokyo, Grad Sch Arts & Sci, Dept Life Sci, Tokyo, Japan.
   RIKEN Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama, Japan.
   NCNP, Natl Inst Neurosci, Tokyo, Japan.
C3 University of Tokyo; RIKEN; National Center for Neurology & Psychiatry -
   Japan
RP Ishiura, S (corresponding author), Univ Tokyo, Grad Sch Arts & Sci, Dept Life Sci, Tokyo, Japan.
EM cishiura@mail.ecc.u-tokyo.ac.jp
RI Nishino, Ichizo/G-2676-2010
OI Nishino, Ichizo/0000-0001-9452-112X
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NR 32
TC 20
Z9 22
U1 0
U2 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
EI 1873-2364
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD APR
PY 2007
VL 17
IS 4
BP 306
EP 312
DI 10.1016/j.nmd.2007.01.002
PG 7
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 167ZM
UT WOS:000246491400006
PM 17331722
DA 2025-04-10
ER

PT J
AU Storbeck, M
   Hupperich, K
   Gaspar, JA
   Meganathan, K
   Carrera, LM
   Wirth, R
   Sachinidis, A
   Wirth, B
AF Storbeck, Markus
   Hupperich, Kristina
   Gaspar, John Antonydas
   Meganathan, Kesavan
   Carrera, Lilian Martinez
   Wirth, Radu
   Sachinidis, Agapios
   Wirth, Brunhilde
TI Neuronal-Specific Deficiency of the Splicing Factor Tra2b Causes
   Apoptosis in Neurogenic Areas of the Developing Mouse Brain
SO PLOS ONE
LA English
DT Article
ID VALPROIC ACID; EXON 10; HISTONE CHAPERONE; SEX DETERMINATION;
   RNA-RECOGNITION; TAU GENE; PROTEIN; EXPRESSION; TRA2-BETA; CELLS
AB Alternative splicing (AS) increases the informational content of the genome and is more prevalent in the brain than in any other tissue. The splicing factor Tra2b (Sfrs10) can modulate splicing inclusion of exons by specifically detecting GAA-rich binding motifs and its absence causes early embryonic lethality in mice. TRA2B has been shown to be involved in splicing processes of Nasp (nuclear autoantigenic sperm protein), MAPT (microtubule associated protein tau) and SMN (survival motor neuron), and is therefore implicated in spermatogenesis and neurological diseases like Alzheimer's disease, dementia, Parkinson's disease and spinal muscular atrophy. Here we generated a neuronal-specific Tra2b knock-out mouse that lacks Tra2b expression in neuronal and glial precursor cells by using the Nestin-Cre. Neuronal-specific Tra2b knock-out mice die immediately after birth and show severe abnormalities in cortical development, which are caused by massive apoptotic events in the ventricular layers of the cortex, demonstrating a pivotal role of Tra2b for the developing central nervous system. Using whole brain RNA on exon arrays we identified differentially expressed alternative exons of Tubulind1 and Shugoshin-like2 as in vivo targets of Tra2b. Most interestingly, we found increased expression of the cyclin dependent kinase inhibitor 1a (p21) which we could functionally link to neuronal precursor cells in the affected brain regions. We provide further evidence that the absence of Tra2b causes p21 upregulation and ultimately cell death in NSC34 neuronal-like cells. These findings demonstrate that Tra2b regulates splicing events essential for maintaining neuronal viability during development. Apoptotic events triggered via p21 might not be restricted to the developing brain but could possibly be generalized to the whole organism and explain early embryonic lethality in Tra2b-depleted mice.
C1 [Storbeck, Markus; Hupperich, Kristina; Carrera, Lilian Martinez; Wirth, Radu; Wirth, Brunhilde] Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany.
   [Storbeck, Markus; Hupperich, Kristina; Carrera, Lilian Martinez; Wirth, Brunhilde] Univ Cologne, Inst Genet, Cologne, Germany.
   [Storbeck, Markus; Hupperich, Kristina; Carrera, Lilian Martinez; Wirth, Brunhilde] Univ Cologne, Ctr Mol Med, D-50931 Cologne, Germany.
   [Gaspar, John Antonydas; Meganathan, Kesavan; Sachinidis, Agapios] Univ Cologne, Insitute Neurophysiol, D-50931 Cologne, Germany.
C3 University of Cologne; University of Cologne; University of Cologne;
   University of Cologne
RP Wirth, B (corresponding author), Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany.
EM brunhilde.wirth@uk-koeln.de
RI Wirth, Brunhilde/H-3192-2019; Sachinidis, Agapios/AAM-7988-2020
OI Wirth, Brunhilde/0000-0003-4051-5191
FU Center for Molecular Medicine Cologne [D5]; EU [2012-305121]; Deutsche
   Forschungsgemeinschaft [Wi945-14/1]
FX The research leading to these results has received funding from the
   Center for Molecular Medicine Cologne (grant no. D5)
   (http://www.zmmk.unikoeln.de/), from the EU Program FP7 Program under
   grant agreement no. 2012-305121 (Project acronym NeurOmics) and the
   Deutsche Forschungsgemeinschaft Wi945-14/1 to BW (http://www.dfg.de/).
   The funders had no role in study design, data collection and analysis,
   decision to publish, or preparation of the manuscript.
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NR 82
TC 18
Z9 21
U1 1
U2 15
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD FEB 19
PY 2014
VL 9
IS 2
AR e89020
DI 10.1371/journal.pone.0089020
PG 16
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA AB3TA
UT WOS:000331711900070
PM 24586484
OA gold, Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Cardoso, CC
   Cabrini, DA
   May, M
   Bhagat, CS
   Eleno, N
   Cayla, C
   Walther, T
   Bader, M
AF Cardoso, Cibele C.
   Cabrini, Daniela A.
   May, Markus
   Bhagat, Claudia S.
   Eleno, Nelida
   Cayla, Cecile
   Walther, Thomas
   Bader, Michael
TI Functional expression of angiotensinogen depends on splicing enhancers
   in exon 2
SO MOLECULAR AND CELLULAR ENDOCRINOLOGY
LA English
DT Article
DE Angiotensinogen; Exonic splicing enhancer; Alternative splicing
ID TRANSGENIC RATS; SYSTEM
AB Angiotensinogen belongs to the family of serpins and is the only precursor of the potent cardiovascular peptide, angiotensin II, the main effector of the renin-angiotensin system. The gene coding for this protein carries an internal exon (exon 2), the length of which (859 bp) by far exceeds the mean length of internal exons in vertebrates (<300 bp). Here, we show that this essential exon is skipped in about 20% of all transcripts in liver, brain, and kidney of rats and mice. Deletion mutants of exon 2 revealed a 62 bp region located at its 5'-end which is important for its inclusion in the mature angiotensinogen mRNA in transfected COS7 cells. Using an artificial minigene, we defined sequences inside this region as exonic splicing enhancers. These data reveal a novel molecular mechanism important for the renin-angiotensin system with implications in the basic understanding and the therapeutical assessment of cardiovascular diseases. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
C1 [Cardoso, Cibele C.; May, Markus; Bhagat, Claudia S.; Cayla, Cecile; Bader, Michael] Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany.
   [Cabrini, Daniela A.] Univ Fed Parana, Dept Pharmacol, Polytech Ctr, BR-81530900 Curitiba, Parana, Brazil.
   [Eleno, Nelida] Univ Salamanca, Dept Physiol & Pharmacol, Salamanca 37007, Spain.
   [Walther, Thomas] Univ Giessen, Dept Expt Cardiol, Giessen, Germany.
   [Walther, Thomas] Univ Hull, Ctr Biomed Res, Hull York Med Sch, Kingston Upon Hull HU6 7RX, N Humberside, England.
C3 Helmholtz Association; Max Delbruck Center for Molecular Medicine;
   Universidade Federal do Parana; University of Salamanca; Justus Liebig
   University Giessen; University of York - UK; University of Hull
RP Bader, M (corresponding author), Max Delbruck Ctr Mol Med, Robert Rossle Str 10, D-13125 Berlin, Germany.
EM mbader@mdc-berlin.de
RI Bader, Michael/K-2124-2013; Walther, Thomas/C-6212-2016; Eleno,
   Nélida/A-5281-2016; Almeida Cabrini, Daniela/I-4652-2014
OI Almeida Cabrini, Daniela/0000-0002-7323-6933; Campos Cardoos,
   Cibele/0000-0002-6276-7923; Bader, Michael/0000-0003-4780-4164
FU Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)
FX D.A. Cabrini thanks Conselho Nacional de Desenvolvimento Cientifico e
   Tecnologico (CNPq) for fellowship support.
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NR 25
TC 1
Z9 1
U1 1
U2 4
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
   IRELAND
SN 0303-7207
J9 MOL CELL ENDOCRINOL
JI Mol. Cell. Endocrinol.
PD JAN 30
PY 2011
VL 332
IS 1-2
BP 228
EP 233
DI 10.1016/j.mce.2010.10.016
PG 6
WC Cell Biology; Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Endocrinology & Metabolism
GA 716FX
UT WOS:000286955600025
PM 21055442
OA Green Submitted
DA 2025-04-10
ER

PT J
AU Stormo, C
   Kringen, MK
   Lyle, R
   Olstad, OK
   Sachse, D
   Berg, JP
   Piehler, AP
AF Stormo, Camilla
   Kringen, Marianne K.
   Lyle, Robert
   Olstad, Ole Kristoffer
   Sachse, Daniel
   Berg, Jens P.
   Piehler, Armin P.
TI RNA-Sequencing Analysis of HepG2 Cells Treated with Atorvastatin
SO PLOS ONE
LA English
DT Article
ID RANDOMIZED CONTROLLED TRIAL; STATIN-INDUCED MYOPATHY; GENE-EXPRESSION;
   DIFFERENTIAL GENE; C2C12 MYOTUBES; SEQ; CHOLESTEROL; SIMVASTATIN;
   MICROARRAY; QUANTIFICATION
AB The cholesterol-lowering drug atorvastatin is among the most prescribed drug in the world. Alternative splicing in a number of genes has been reported to be associated with variable statin response. RNA-seq has proven to be a powerful technique for genome-wide splice variant analysis. In the present study, we sought to investigate atorvastatin responsive splice variants in HepG2 cells using RNA-seq analysis to identify novel candidate genes implicated in cholesterol homeostasis and in the statin response. HepG2 cells were treated with 10 mu M atorvastatin for 24 hours. RNA-seq and exon array analyses were performed. The validation of selected genes was performed using Taqman gene expression assays. RNA-seq analysis identified 121 genes and 98 specific splice variants, of which four were minor splice variants to be differentially expressed, 11 were genes with potential changes in their splicing patterns (SYCP3, ZNF195, ZNF674, MYD88, WHSC1, KIF16B, ZNF92, AGER, FCHO1, SLC6A12 and AKAP9), and one was a gene (RAP1GAP) with differential promoter usage. The IL21R transcript was detected to be differentially expressed via RNA-seq and RT-qPCR, but not in the exon array. In conclusion, several novel candidate genes that are affected by atorvastatin treatment were identified in this study. Further studies are needed to determine the biological significance of the atorvastatin responsive splice variants that have been uniquely identified using RNA-seq.
C1 [Stormo, Camilla; Olstad, Ole Kristoffer; Berg, Jens P.] Oslo Univ Hosp, Dept Med Biochem, Oslo, Norway.
   [Kringen, Marianne K.] Oslo Univ Hosp, Dept Pharmacol, Oslo, Norway.
   [Lyle, Robert] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway.
   [Lyle, Robert] Univ Oslo, Oslo, Norway.
   [Sachse, Daniel; Berg, Jens P.] Univ Oslo, Fac Med, Inst Clin Med, Oslo, Norway.
   [Piehler, Armin P.] Furst Med Lab, Oslo, Norway.
C3 University of Oslo; University of Oslo; University of Oslo; University
   of Oslo; University of Oslo
RP Stormo, C (corresponding author), Oslo Univ Hosp, Dept Med Biochem, Oslo, Norway.
EM camilla.stormo@medisin.uio.no
RI Berg, Jens/IZQ-0634-2023
OI Sachse, Daniel/0000-0002-3121-1236; Berg, Jens P/0000-0003-0157-5888
FU Division of Diagnostics and Intervention, Oslo University Hospital,
   Norway; Blix Family Foundation; Sigrid Wolmar Fund for Heart and Lung
   Diseases; Research Council of Norway; Southeastern Regional Health
   Authorities
FX This work was funded by the Division of Diagnostics and Intervention,
   Oslo University Hospital, Norway and by grants from The Blix Family
   Foundation and Sigrid Wolmar Fund for Heart and Lung Diseases. The
   sequencing service was provided by the Norwegian Sequencing Centre
   (www.sequencing.uio.no) a national technology platform supported by the
   Research Council of Norway and the Southeastern Regional Health
   Authorities. The funders had no role in study design, data collection
   and analysis, decision to publish, or preparation of the manuscript.
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NR 41
TC 14
Z9 17
U1 0
U2 19
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 25
PY 2014
VL 9
IS 8
AR e105836
DI 10.1371/journal.pone.0105836
PG 9
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA AN9TR
UT WOS:000340952200085
PM 25153832
OA Green Published, Green Submitted, gold
DA 2025-04-10
ER

PT J
AU Dessí, M
   Motti, C
   Cortese, C
   Leonardis, E
   Giovannini, C
   Federici, G
   Piemonte, F
AF Dessí, M
   Motti, C
   Cortese, C
   Leonardis, E
   Giovannini, C
   Federici, G
   Piemonte, F
TI Alternative splicing of human plasma cholesteryl ester transfer protein
   mRNA in Caco-2 cells and its modulation by oleic acid
SO MOLECULAR AND CELLULAR BIOCHEMISTRY
LA English
DT Article
DE cholesteryl ester; CETP; Caco-2; polymerase chain reaction; gene
   expression; mRNA; alternative splicing
ID POLYMERASE CHAIN-REACTION; MESSENGER-RNA; SECRETION; INHIBITION; HEPG2;
   LINE
AB Cholesteryl ester transfer protein (CETP) is a plasma protein involved in the reverse cholesterol transport and expressed in several human tissues and cell lines. We studied CETP expression in Caco-2 cell line, a model of the human enterocyte epithelium. By reverse-transcriptase polymerase chain reaction, we could demonstrate that in basal condition Caco-2 cells have a low rate of expression of active CETP mRNA. Furthermore, we found that even in this cell Line CETP mRNA alternative splicing occurs with deletion of exon 9 sequence. Densitometric analysis of the in vitro amplified fragments showed that under basal conditions about 60% of reverse transcribed CETP cDNA corresponds to exon 9-deleted transcripts. After challenge with 50 mu M sodium oleate, there is a similar to 2 fold increase in the transcription rate of the full-length CETP cDNA, as measured by competitive PCR, which is accompanied to an increased activity measured in the cell-conditioned medium. On the contrary, no significant change is seen in the amount of exon 9-deleted cDNA. Consequently, an inversion in the ratio of full-length and exon 9-deleted CETP cDNA is evident, suggesting that sodium oleate selectively enhances the expression of full-length CETP mRNA.
C1 Univ Roma Tor Vergata, Dipartimento Med Interna, Clin Biochem Grp, I-00133 Rome, Italy.
   ISS, Dept Metab & Pathol Biochem, Rome, Italy.
   IRCCS, Osp Pediat Bambino Gesu, Lab Anal, Rome, Italy.
C3 University of Rome Tor Vergata; Istituto Superiore di Sanita (ISS);
   IRCCS Bambino Gesu
RP Dessí, M (corresponding author), Univ Roma Tor Vergata, Dipartimento Med Interna, Clin Biochem Grp, Via Tor Vergata 135, I-00133 Rome, Italy.
RI Giovannini, Claudio/A-9168-2013; Piemonte, Fiorella/A-2809-2014
OI Giovannini, Claudio/0000-0002-4228-1264; Piemonte,
   Fiorella/0000-0003-1825-9347
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PU KLUWER ACADEMIC PUBL
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PA SPUIBOULEVARD 50, PO BOX 17, 3300 AA DORDRECHT, NETHERLANDS
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J9 MOL CELL BIOCHEM
JI Mol. Cell. Biochem.
PD DEC
PY 1997
VL 177
IS 1-2
BP 107
EP 112
DI 10.1023/A:1006823601032
PG 6
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA YP132
UT WOS:000071245900014
PM 9450651
DA 2025-04-10
ER

PT J
AU Cheng, XY
   Pachuau, J
   Blaskova, E
   Asuncion-Chin, M
   Liu, JX
   Dopico, AM
   Jaggar, JH
AF Cheng, Xiaoyang
   Pachuau, Judith
   Blaskova, Eva
   Asuncion-Chin, Maria
   Liu, Jianxi
   Dopico, Alejandro M.
   Jaggar, Jonathan H.
TI Alternative splicing of Cav1.2 channel exons in smooth muscle
   cells of resistance-size arteries generates currents with unique
   electrophysiological properties
SO AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
LA English
DT Article
DE voltage-dependent calcium channel; myogenic artery; cloning; ribonucleic
   acid splicing
ID GATED CALCIUM-CHANNEL; SPONTANEOUSLY HYPERTENSIVE-RATS; CA2+ CHANNEL;
   INTRAVASCULAR PRESSURE; AUXILIARY SUBUNITS; ALPHA(1) SUBUNIT;
   BLOOD-PRESSURE; GENE; SENSITIVITY; RECEPTOR
AB Cheng X, Pachuau J, Blaskova E, Asuncion-Chin M, Liu J, Dopico AM, Jaggar JH. Alternative splicing of Ca(v)1.2 channel exons in smooth muscle cells of resistance-size arteries generates currents with unique electrophysiological properties. Am J Physiol Heart Circ Physiol 297: H680-H688, 2009. First published June 5, 2009; doi:10.1152/ajpheart.00109.2009.-Voltage-dependent calcium (Ca2+, Ca(V)1.2) channels are the primary Ca2+ entry pathway in smooth muscle cells of resistance-size (myogenic) arteries, but their molecular identity remains unclear. Here we identified and quantified Ca(V)1.2 alpha(1)-subunit splice variation in myocytes of rat resistance-size (100-200 mu m diameter) cerebral arteries. Full-length clones containing either exon 1b or the recently identified exon 1c exhibited additional primary splice variation at exons 9*, 21/22, 31/32, and +/- 33. Real-time PCR confirmed the findings from full-length clones and indicated that the major Ca(V)1.2 variant contained exons 1c, 8, 21, and 32 + 33, with similar to 57% containing 9*. Exon 9* was more prevalent in clones containing 1c (72%) than in those containing 1b (33%), suggesting exon-selective combinatorial splicing. To examine the functional significance of this splicing profile, membrane currents produced by each of the four exon 1b/c/ +/- 9* variants were characterized following transfection in HEK293 cells. Exon 1c and 9* caused similar hyperpolarizing shifts in both current-voltage relationships and voltage-dependent activation of currents. Furthermore, exon 9* induced a hyperpolarizing shift only in the voltage-dependent activation of channels containing exon 1b, but not in those containing exon 1c. In contrast, exon 1b, 1c, or +9* did not alter voltagede-pendent inactivation. In summary, we have identified the Ca(V)1.2 alpha(1)-subunit splice variant population that is expressed in myocytes of resistance-size arteries and the unique electrophysiological properties of recombinant channels formed by exon 1 and 9* variation. The predominance of exon 1c and 9* in smooth muscle cell Ca(V)1.2 channels causes a hyperpolarizing shift in the voltage sensitivity of currents toward the physiological arterial voltage range.
C1 [Cheng, Xiaoyang; Pachuau, Judith; Blaskova, Eva; Jaggar, Jonathan H.] Univ Tennessee, Hlth Sci Ctr, Dept Physiol, Memphis, TN 38163 USA.
   [Asuncion-Chin, Maria; Liu, Jianxi; Dopico, Alejandro M.] Univ Tennessee, Hlth Sci Ctr, Dept Pharmacol, Memphis, TN 38163 USA.
C3 University of Tennessee System; University of Tennessee Health Science
   Center; University of Tennessee System; University of Tennessee Health
   Science Center
RP Jaggar, JH (corresponding author), Univ Tennessee, Hlth Sci Ctr, Dept Physiol, Memphis, TN 38163 USA.
EM jjaggar@physio1.utmem.edu
RI Cheng, Xiaoyang/M-1257-2017
OI Cheng, Xiaoyang/0000-0003-1446-2815
FU National Institutes of Health [HL-67061, HL-77678, HL-94378, AA-11560,
   HL-77424]; American Heart Association National Center
FX This study was supported by grants from the National Institutes of
   Health to J. H. Jaggar (HL-67061, HL-77678, and HL-94378) and A. M.
   Dopico (AA-11560 and HL-77424) and the American Heart Association
   National Center to J. H. Jaggar. X. Cheng and J. Liu are recipients of
   predoctoral and postdoctoral fellowships, respectively, from the
   Southeast Affiliate of the American Heart Association.
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NR 39
TC 35
Z9 42
U1 0
U2 2
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6135
EI 1522-1539
J9 AM J PHYSIOL-HEART C
JI Am. J. Physiol.-Heart Circul. Physiol.
PD AUG
PY 2009
VL 297
IS 2
BP H680
EP H688
DI 10.1152/ajpheart.00109.2009
PG 9
WC Cardiac & Cardiovascular Systems; Physiology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Physiology
GA 475HC
UT WOS:000268348200024
PM 19502562
OA Green Published, Green Accepted
DA 2025-04-10
ER

PT J
AU Greco, S
   Cardinali, B
   Falcone, G
   Martelli, F
AF Greco, Simona
   Cardinali, Beatrice
   Falcone, Germana
   Martelli, Fabio
TI Circular RNAs in Muscle Function and Disease
SO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
LA English
DT Review
DE circular RNAs; skeletal muscle; cardiac muscle; muscle disease
ID GENOME-WIDE ANALYSIS; CARDIAC DIFFERENTIATION; SKELETAL-MUSCLE;
   EXPRESSION; REVEALS; LANDSCAPE; ABUNDANT; HEART; CARDIOMYOPATHY;
   TRANSLATION
AB Circular RNAs (circRNAs) are a class of RNA produced during pre-mRNA splicing that are emerging as new members of the gene regulatory network. In addition to being spliced in a linear fashion, exons of pre-mRNAs can be circularized by use of the 3 acceptor splice site of upstream exons, leading to the formation of circular RNA species. In this way, genetic information can be re-organized, increasing gene expression potential. Expression of circRNAs is developmentally regulated, tissue and cell-type specific, and shared across eukaryotes. The importance of circRNAs in gene regulation is now beginning to be recognized and some putative functions have been assigned to them, such as the sequestration of microRNAs or proteins, the modulation of transcription, the interference with splicing, and translation of small proteins. In accordance with an important role in normal cell biology, circRNA deregulation has been reported to be associated with diseases. Recent evidence demonstrated that circRNAs are highly expressed in striated muscle tissue, both skeletal and cardiac, that is also one of the body tissue showing the highest levels of alternative splicing. Moreover, initial studies revealed altered circRNA expression in diseases involving striated muscle, suggesting important functions of these molecules in the pathogenetic mechanisms of both heart and skeletal muscle diseases. The recent findings in this field will be described and discussed.
C1 [Greco, Simona; Martelli, Fabio] IRCCS Policlin San Donato, Mol Cardiol Lab, I-20097 Milan, Italy.
   [Cardinali, Beatrice; Falcone, Germana] CNR, Inst Cell Biol & Neurobiol, I-00015 Rome, Italy.
C3 IRCCS Policlinico San Donato; Consiglio Nazionale delle Ricerche (CNR);
   Istituto di Biologia Cellulare e Neurobiologia (IBCN-CNR)
RP Martelli, F (corresponding author), IRCCS Policlin San Donato, Mol Cardiol Lab, I-20097 Milan, Italy.; Falcone, G (corresponding author), CNR, Inst Cell Biol & Neurobiol, I-00015 Rome, Italy.
EM simona.greco@grupposandonato.it; beatrice.cardinali@cnr.it;
   germana.falcone@cnr.it; fabio.martelli@grupposandonato.it
RI Falcone, Germana/A-3735-2016; greco, simona/AAD-3211-2021; Cardinali,
   Beatrice/M-8862-2015; Martelli, Fabio/AAL-3788-2020; greco,
   simona/J-5374-2016
OI Cardinali, Beatrice/0000-0002-3333-3384; Martelli,
   Fabio/0000-0002-8624-7738; Falcone, Germana/0000-0002-3508-7623; greco,
   simona/0000-0002-0275-7221
FU Ministero della Salute (Ricerca Corrente, 5X1000) [RF-2011-02347907,
   PE-2011-02348537]; InterOmics Flagship Project, Consiglio Nazionale
   delle Ricerche
FX F.M. and S.G. are supported by Ministero della Salute (Ricerca Corrente,
   5X1000, RF-2011-02347907 and PE-2011-02348537). G.F. and B.C. are
   supported by InterOmics Flagship Project, Consiglio Nazionale delle
   Ricerche (2nd call, 2017).
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NR 95
TC 68
Z9 71
U1 0
U2 14
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 1422-0067
J9 INT J MOL SCI
JI Int. J. Mol. Sci.
PD NOV
PY 2018
VL 19
IS 11
AR 3454
DI 10.3390/ijms19113454
PG 18
WC Biochemistry & Molecular Biology; Chemistry, Multidisciplinary
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Chemistry
GA HC0ZM
UT WOS:000451528500170
PM 30400273
OA Green Submitted, Green Published, gold
DA 2025-04-10
ER

PT J
AU Wan, XJ
   Zhao, HC
   Zhang, P
   Huo, B
   Shen, BR
   Yan, ZQ
   Qi, YX
   Jiang, ZL
AF Wan, Xue-Jiao
   Zhao, Hu-Cheng
   Zhang, Ping
   Huo, Bo
   Shen, Bao-Rong
   Yan, Zhi-Qiang
   Qi, Ying-Xin
   Jiang, Zong-Lai
TI Involvement of BK channel in differentiation of vascular smooth muscle
   cells induced by mechanical stretch
SO INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
LA English
DT Article
DE Vascular smooth muscle cells; Differentiation; Mechanical stretch; BK
   channel; Endoplasmic reticulum stress
ID ENDOPLASMIC-RETICULUM STRESS; ALTERED EXPRESSION; K+ CHANNELS;
   CONDUCTANCE; CA2+; BETA(1)-SUBUNIT; TRAFFICKING; ACTIVATION; PHENOTYPE;
   TISSUES
AB The differentiation of vascular smooth muscle cells (VSMCs), which are exposed to mechanical stretch in vivo, plays an important role in vascular remodeling during hypertension. Here, we demonstrated the mechanobiological roles of large conductance calcium and voltage-activated potassium (BK) channels in this process. In comparison with 5% stretch (physiological), 15% stretch (pathological) induced the de-differentiation of VSMCs, resulting in significantly decreased expressions of VSMC markers, i.e., a-actin, calponin and SM22. The activity of BK channels, assessed by patch clamp recording, was significantly increased by 15% stretch and was accompanied by an increased alternative splicing of BK channel a-subunit at the stress axis-regulated exons (STREX). Furthermore, transfection of whole BK or STREX-deleted BK plasmids revealed that STREX was important for BK channels to sense mechanical stretch. Using thapsigargin (TG) which induces endoplasmic reticulum (ER) stress, and xbp1-targeted siRNA transfection which blocks ER stress, the results revealed that ER stress was contribute to stretch-induced alternative splicing of STREX. Our results suggested that during hypertension, pathological stretch may induce the ER stress in VSMCs, which affects the alternative splicing and activity of BK channels, and subsequently modulates VSMC differentiation. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wan, Xue-Jiao; Zhang, Ping; Shen, Bao-Rong; Yan, Zhi-Qiang; Qi, Ying-Xin; Jiang, Zong-Lai] Shanghai Jiao Tong Univ, Sch Life Sci & Biotechnol, Inst Mechanobiol & Med Engn, Shanghai 200240, Peoples R China.
   [Zhao, Hu-Cheng] Tsinghua Univ, Dept Engn Mech, Lab Biomech, Beijing 100084, Peoples R China.
   [Huo, Bo] Beijing Inst Technol, Sch Aerosp Engn, Beijing 100081, Peoples R China.
C3 Shanghai Jiao Tong University; Tsinghua University; Beijing Institute of
   Technology
RP Qi, YX (corresponding author), Shanghai Jiao Tong Univ, Sch Life Sci & Biotechnol, Inst Mechanobiol & Med Engn, POB 888,800 Dong Chuan Rd, Shanghai 200240, Peoples R China.
EM qiyx@sjtu.edu.cn
RI Yan, Zhiqiang/GQB-3687-2022; Huo, Bo/AAA-1331-2020
FU National Natural Science Foundation of China [11232010, 11229202,
   11222223, 10732070]
FX This research was supported by grants from the National Natural Science
   Foundation of China, Nos. 11232010, 11229202, 11222223 and 10732070. We
   thank Dr. Zhi Qi at Xia Men University, China for the gift of GFP,
   HEK-Slo, and HEK-STREX delete plasmids.
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NR 42
TC 25
Z9 32
U1 1
U2 30
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 1357-2725
EI 1878-5875
J9 INT J BIOCHEM CELL B
JI Int. J. Biochem. Cell Biol.
PD FEB
PY 2015
VL 59
BP 21
EP 29
DI 10.1016/j.biocel.2014.11.011
PG 9
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA CB1YV
UT WOS:000349424800003
PM 25481230
DA 2025-04-10
ER

PT J
AU Oehler, D
   Spychala, A
   Gödecke, A
   Lang, A
   Gerdes, N
   Ruas, J
   Kelm, M
   Szendroedi, J
   Westenfeld, R
AF Oehler, Daniel
   Spychala, Andre
   Godecke, Axel
   Lang, Alexander
   Gerdes, Norbert
   Ruas, Jorge
   Kelm, Malte
   Szendroedi, Julia
   Westenfeld, Ralf
TI Full-length transcriptomic analysis in murine and human heart reveals
   diversity of PGC-1α promoters and isoforms regulated distinctly in
   myocardial ischemia and obesity
SO BMC BIOLOGY
LA English
DT Article
DE Ischemia/reperfusion; Long-read sequencing; PGC-1 alpha; Diet-induced
   obesity
ID PGC-1 COACTIVATORS; MUSCLE; EXPRESSION; DOMAIN; ANGIOGENESIS;
   ACTIVATION; COORDINATE; PROTEINS; TARGET; VEGF
AB Background: Peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1 alpha) acts as a transcriptional coactivator and regulates mitochondrial function. Various isoforms are generated by alternative splicing and differentially regulated promoters. In the heart, total PGC-1 alpha deficiency knockout leads to dilatative cardiomyopathy, but knowledge on the complexity of cardiac isoform expression of PGC-1 alpha remains sparse. Thus, this study aims to generate a reliable dataset on cardiac isoform expression pattern by long-read mRNA sequencing, followed by investigation of differential regulation of PGC-1 alpha isoforms under metabolic and ischemic stress, using high-fat-high-sucrosediet-induced obesity and a murine model of myocardial infarction.
   Results: Murine (C57B1/6J) or human heart tissue (obtained during LVAD-surgery) was used for long-read mRNA sequencing, resulting in full-length transcriptomes including 58,000 mRNA isoforms with 99% sequence accuracy. Automatic bioinformatic analysis as well as manual similarity search against exonic sequences leads to identification of putative coding PGC-1 alpha isoforms, validated by PCR and Sanger sequencing. Thereby, 12 novel transcripts generated by hitherto unknown splicing events were detected. In addition, we postulate a novel promoter with homologous and strongly conserved sequence in human heart. High-fat diet as well as ischemia/reperfusion (I/R) injury transiently reduced cardiac expression of PGC-1 alpha isoforms, with the most pronounced effect in the infarcted area. Recovery of PGC-1 alpha-isoform expression was even more decelerated when I/R was performed in diet-induced obese mice.
   Conclusions: We deciphered for the first time a complete full-length transcriptome of the murine and human heart, identifying novel putative PGC-1 alpha coding transcripts including a novel promoter. These transcripts are differentially regulated in I/R and obesity suggesting transcriptional regulation and alternative splicing that may modulate PGC-1 alpha function in the injured and metabolically challenged heart.
C1 [Oehler, Daniel; Lang, Alexander; Gerdes, Norbert; Kelm, Malte; Westenfeld, Ralf] Heinrich Heine Univ, Div Cardiol Pulmonol & Vasc Med, Med Fac, Moorenstr 5, D-40225 Dusseldorf, Germany.
   [Oehler, Daniel; Godecke, Axel; Lang, Alexander; Gerdes, Norbert; Kelm, Malte; Westenfeld, Ralf] Heinrich Heine Univ, Med Fac, Cardiovasc Res Inst Dusseldorf CARID, Dusseldorf, Germany.
   [Spychala, Andre; Godecke, Axel] Heinrich Heine Univ Dusseldorf, Dept Cardiovasc Physiol, Dusseldorf, Germany.
   [Ruas, Jorge] Karolinska Inst, Dept Physiol & Pharmacol, Mol & Cellular Exercise Physiol, SE-17177 Stockholm, Sweden.
   [Szendroedi, Julia] Heidelberg Univ Hosp, Internal Med, Joint Heidelberg IDC Translat Diabet Program, Heidelberg, Germany.
   [Szendroedi, Julia] German Ctr Diabet Res, Neuherberg, Germany.
C3 Heinrich Heine University Dusseldorf; Heinrich Heine University
   Dusseldorf; Heinrich Heine University Dusseldorf; Karolinska Institutet;
   Ruprecht Karls University Heidelberg
RP Oehler, D; Westenfeld, R (corresponding author), Heinrich Heine Univ, Div Cardiol Pulmonol & Vasc Med, Med Fac, Moorenstr 5, D-40225 Dusseldorf, Germany.; Oehler, D; Westenfeld, R (corresponding author), Heinrich Heine Univ, Med Fac, Cardiovasc Res Inst Dusseldorf CARID, Dusseldorf, Germany.
EM Daniel.Oehler@med.uni-duesseldorf.de;
   Ralf.Westenfeld@med.uni-duesseldorf.de
RI Gerdes, Norbert/E-2787-2010; Ruas, Jorge/T-3040-2017
OI Ruas, Jorge/0000-0002-1110-2606; Spychala, Andre/0000-0002-5731-9923;
   Oehler, Daniel/0000-0002-0435-4119
FU Projekt DEAL; Deutsche Forschungsgemeinschaft (DFG, German Research
   Foundation), Collaborative Research centre (CRC) 1116 [236177352SFB
   1116]
FX Open Access funding enabled and organized by Projekt DEAL. This work was
   funded by the Deutsche Forschungsgemeinschaft (DFG, German Research
   Foundation), Collaborative Research centre (CRC) 1116, Grant No.
   236177352SFB 1116, TP B05.
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NR 54
TC 9
Z9 10
U1 1
U2 6
PU BMC
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
EI 1741-7007
J9 BMC BIOL
JI BMC Biol.
PD JUL 30
PY 2022
VL 20
IS 1
AR 169
DI 10.1186/s12915-022-01360-w
PG 20
WC Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Life Sciences & Biomedicine - Other Topics
GA 3J6OI
UT WOS:000833512500002
PM 35907957
OA Green Submitted, Green Published, gold
DA 2025-04-10
ER

PT J
AU Iqbal, SM
   Andavan, GSB
   Lemmens-Gruber, R
AF Iqbal, Shahid M.
   Andavan, Gowri S. B.
   Lemmens-Gruber, Rosa
TI Differential Modulation of Fast Inactivation in Cardiac Sodium Channel
   Splice Variants by Fyn Tyrosine Kinase
SO CELLULAR PHYSIOLOGY AND BIOCHEMISTRY
LA English
DT Article
DE Na(v)1.5 channel splice variants; Fyn kinase; Phosphorylation
ID VENTRICULAR MYOCYTES; ADHERENS JUNCTIONS; NA(V)1.2 CHANNELS; SRC FAMILY;
   PROTEIN; EXPRESSION; HEART; PHOSPHORYLATION; Q1077
AB Background/Aims: Post-translational modifications such as phosphorylation and dephosphorylation can finely tune the function of ion channels. Na(v)1.5 is the main sodium channel in human hearts and alternative splicing of the transcript generates two major splice variants, characterized by the presence (Q-pre) or absence (Q-del) of glutamine at position 1077. In the heart, both the Na(v)1.5 channel and Fyn tyrosine kinase are colocalized at adherens junctions. This study aimed to investigate the modulation of the aforementioned splice variants by Fyn tyrosine kinase. Methods and Results: Q-del and Q-pre were transiently expressed alone, with catalytically active Fyn kinase (FynKa) or with a catalytically dead Fyn kinase (FynKd). Co-expression of Na(v)1.5 channel splice variants and Fyn kinase was confirmed by Western blotting and their Interaction was established by co-immunoprecipitation experiments. The enzymatic activity of Fyn kinase and phosphorylation of Na(v)1.5 channel were ascertained by immunoprecipitation and anti-phosphotyrosine immunoblotting. Wholecell ionic currents were recorded in patch clamp experiments to examine the modulation of Na(v)1.5 channel variants by Fyn kinase, which indicated a hyperpolarizing shift of 9.68 mV in fast inactivation of Q-del. In contrast, a depolarizing shift of 8.77 mV in fast inactivation was observed in the case of Q-pre, while activation curves remained unaltered for both splice variants. This differential modulation in fast inactivation was further assessed by mutating tyrosine 1495 to phenylalanine in the inactivation loop, which completely removed the modulatory effect of Fyn kinase in Q-pre splice variant, while in Q-del variant hyperpolarizing shift in fast inactivation was reduced to 4.74 mV. Finally, the modulatory effect of Fyn kinase was compensated at a mid-value of 94.63 +/- 0.34, when both splice variants were co-expressed at a normal physiological ratio. Conclusion: Q-del and Q-pre were differentially modulated by Fyn kinase, and this fine modification resulted in smooth electrical activity in the heart. Copyright (C) 2015 S. Karger AG, Basel
C1 [Iqbal, Shahid M.; Andavan, Gowri S. B.; Lemmens-Gruber, Rosa] Univ Vienna, Dept Pharmacol & Toxicol, A-1090 Vienna, Austria.
   [Andavan, Gowri S. B.] Bannari Amman Inst Technol, Dept Biotechnol, Madras, Tamil Nadu, India.
C3 University of Vienna; Bannari Amman Institute of Technology
RP Iqbal, SM (corresponding author), Univ Vienna, Dept Pharmacol & Toxicol, Althanstr 14,2D 245, A-1090 Vienna, Austria.
EM shahid.pharmd@gmail.com
FU Higher Education Commission of Pakistan in collaboration with OeAD-GmBH;
   Open Access Publishing Fund of the University of Vienna
FX The authors disclose no conflict of interest. This work was supported by
   Higher Education Commission of Pakistan in collaboration with OeAD-GmBH,
   and by Open Access Publishing Fund of the University of Vienna.
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NR 24
TC 8
Z9 10
U1 0
U2 3
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1015-8987
EI 1421-9778
J9 CELL PHYSIOL BIOCHEM
JI Cell. Physiol. Biochem.
PD SEP
PY 2015
VL 37
IS 3
BP 825
EP 837
DI 10.1159/000430211
PG 13
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA CT0YT
UT WOS:000362524800001
PM 26382759
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Margariti, A
   Xiao, QZ
   Zampetaki, A
   Zhang, ZY
   Li, HL
   Martin, D
   Hu, YH
   Zeng, LF
   Xu, QB
AF Margariti, Andriana
   Xiao, Qingzhong
   Zampetaki, Anna
   Zhang, Zhongyi
   Li, Hongling
   Martin, Daniel
   Hu, Yanhua
   Zeng, Lingfang
   Xu, Qingbo
TI Splicing of HDAC7 modulates the SRF-myocardin complex during stem-cell
   differentiation towards smooth muscle cells
SO JOURNAL OF CELL SCIENCE
LA English
DT Article
DE Embryonic stem cells; Histone deacetylase 7; Smooth muscle cell
   differentiation
ID II HISTONE DEACETYLASES; APOE-DEFICIENT MICE; GENE-EXPRESSION;
   PROGENITOR CELLS; VASCULAR DEVELOPMENT; TRANSCRIPTION FACTOR;
   ENDOTHELIAL-CELLS; PDGF-B; ATHEROSCLEROSIS; ASSOCIATION
AB Histone deacetylases (HDACs) have a central role in the regulation of gene expression. Here we investigated whether HDAC7 has an impact on embryonic stem (ES) cell differentiation into smooth muscle cells (SMCs). ES cells were seeded on collagen-IV-coated flasks and cultured in the absence of leukemia inhibitory factor in differentiation medium to induce SMC differentiation. Western blots and double-immunofluorescence staining demonstrated that HDAC7 has a parallel expression pattern with SMC marker genes. In ex vivo culture of embryonic cells from SM22-LacZ transgenic mice, overexpression of HDAC7 significantly increased beta-galactosidase-positive cell numbers and enzyme activity, indicating its crucial role in SMC differentiation during embryonic development. We found that HDAC7 undergoes alternative splicing during ES cell differentiation. Platelet-derived growth factor enhanced ES cell differentiation into SMCs through upregulation of HDAC7 splicing. Further experiments revealed that HDAC7 splicing induced SMC differentiation through modulation of the SRF-myocardin complex. These findings suggest that HDAC7 splicing is important for SMC differentiation and vessel formation in embryonic development.
C1 [Margariti, Andriana; Xiao, Qingzhong; Zampetaki, Anna; Zhang, Zhongyi; Li, Hongling; Martin, Daniel; Hu, Yanhua; Zeng, Lingfang; Xu, Qingbo] Kings Coll London, BHF Ctr, Div Cardiovasc, London SE5 9NU, England.
C3 University of London; King's College London
RP Zeng, LF (corresponding author), Kings Coll London, BHF Ctr, Div Cardiovasc, London SE5 9NU, England.
EM Lingfang.zeng@kcl.ac.uk
RI Margariti, Andriana/AAH-5318-2019; Xiao, Qingzhong/JZD-2033-2024
OI Zampetaki, Anna/0000-0002-7257-8624; Zeng, Lingfang/0000-0002-0390-4561
FU British Heart Foundation; Oak Foundation
FX We thank John Paul Kirton for critical reading of the manuscript. This
   work was supported by Grants from British Heart Foundation and Oak
   Foundation.
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NR 47
TC 68
Z9 77
U1 0
U2 4
PU COMPANY BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING, STATION RD, HISTON, CAMBRIDGE CB24 9LF, ENGLAND
SN 0021-9533
EI 1477-9137
J9 J CELL SCI
JI J. Cell Sci.
PD FEB 15
PY 2009
VL 122
IS 4
BP 460
EP 470
DI 10.1242/jcs.034850
PG 11
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 403GS
UT WOS:000263071700004
PM 19174469
DA 2025-04-10
ER

PT J
AU Hamming, KSC
   Riedel, MJ
   Soliman, D
   Matemisz, LC
   Webster, NJ
   Searle, GJ
   MacDonald, PE
   Light, PE
AF Hamming, Kevin S. C.
   Riedel, Michael J.
   Soliman, Daniel
   Matemisz, Laura C.
   Webster, Nicola J.
   Searle, Gavin J.
   MacDonald, Patrick E.
   Light, Peter E.
TI Splice variant-dependent regulation of β-cell sodium-calcium exchange by
   acyl-coenzyme As
SO MOLECULAR ENDOCRINOLOGY
LA English
DT Article
ID CARDIAC NA+-CA2+ EXCHANGER; PANCREATIC B-CELLS; FREE FATTY-ACID;
   NA+/CA2+ EXCHANGER; NA/CA EXCHANGER; INSULIN-SECRETION; XIP REGION; COA
   ESTERS; CA2+; ISOFORMS
AB The sodium-calcium exchanger isoform 1 (NCX1) is intimately involved in the regulation of calcium (Ca2+) homeostasis in many tissues including excitation-secretion coupling in pancreatic beta-cells. Our group has previously found that intracellular long-chain acyl-coenzyme As (acyl CoAs) are potent regulators of the cardiac NCX1.1 splice variant. Despite this, little is known about the biophysical properties of beta-cell NCX1 splice variants and the effects of intracellular modulators on their important physiological function in health and disease. Here, we show that the forward-mode activity of beta-cell NCX1 splice variants is differentially modulated by acyl-CoAs and is dependent both upon the intrinsic biophysical properties of the particular NCX1 splice variant as well as the side chain length and degree of saturation of the acyl-CoA moiety. Notably, saturated long-chain acyl-CoAs increased both peak and total NCX1 activity, whereas polyunsaturated long-chain acyl-CoAs did not show this effect. Furthermore, we have identified the exon within the alternative splicing region that bestows sensitivity to acyl-CoAs. We conclude that the physiologically relevant forwardmode activity of NCX1 splice variants expressed in the pancreatic beta-cell are sensitive to acyl-CoAs of different saturation and alterations in intracellular acyl-CoA levels may ultimately lead to defects in Ca2+-mediated exocytosis and insulin secretion.
C1 [Hamming, Kevin S. C.; Soliman, Daniel; Matemisz, Laura C.; Webster, Nicola J.; Searle, Gavin J.; MacDonald, Patrick E.; Light, Peter E.] Univ Alberta, Dept Pharmacol, Edmonton, AB T6G 2H7, Canada.
   [Riedel, Michael J.] Univ British Columbia, Dept Cellular & Physiol Sci, Vancouver, BC V6T 1Z3, Canada.
C3 University of Alberta; University of British Columbia
RP Light, PE (corresponding author), Univ Alberta, Dept Pharmacol, Edmonton, AB T6G 2H7, Canada.
EM peter.light@ualberta.ca
RI MacDonald, Patrick/A-4154-2008
OI MacDonald, Patrick/0000-0002-5439-6288
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NR 43
TC 19
Z9 20
U1 0
U2 0
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 0888-8809
EI 1944-9917
J9 MOL ENDOCRINOL
JI Mol. Endocrinol.
PD OCT
PY 2008
VL 22
IS 10
BP 2293
EP 2306
DI 10.1210/me.2008-0053
PG 14
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA 353RK
UT WOS:000259585700009
PM 18635667
OA Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Qi, Y
   Li, Y
   Cui, SC
   Zhao, JJ
   Liu, XY
   Ji, CX
   Sun, FY
   Xu, P
   Chen, XH
AF Qi, Yao
   Li, Ya
   Cui, Shi-Chao
   Zhao, Jing-Jing
   Liu, Xiao-Yan
   Ji, Chun-Xia
   Sun, Feng-Yan
   Xu, Ping
   Chen, Xian-Hua
TI Splicing Factor NSSR1 Reduces Neuronal Injury After Mouse Transient
   Global Cerebral Ischemia
SO GLIA
LA English
DT Article
DE expression; astrocytes; alternative splicing; NCAM-L1; CREB
ID ELEMENT-BINDING PROTEIN; ADHESION MOLECULE L1; IN-VITRO; TRANSCRIPTION
   FACTORS; NEURITE OUTGROWTH; SIGNALING PATHWAY; PHOSPHORYLATION; BRAIN;
   CREB; EXPRESSION
AB This study focuses on the function of NSSR1, a splicing factor, in neuronal injury in the ischemic mouse brain using the transient global cerebral ischemic mouse model and the cultured cells treated with oxygen-glucose deprivation (OGD). The results showed that the cerebral ischemia triggers the expression of NSSR1 in hippocampal astrocytes, predominantly the dephosphorylated NSSR1 proteins, and the Exon3 inclusive NCAM-L1 variant and the Exon4 inclusive CREB variant. While in the hippocampus of astrocyte-specific NSSR1 conditional knockdown (cKD) mice, where cerebral ischemia no longer triggers NSSR1 expression in astrocytes, the expression of Exon3 inclusive NCAM-L1 variant and Exon4 inclusive CREB variant were no longer triggered as well. In addition, the injury of hippocampal neurons was more severe in astrocyte-specific NSSR1 cKD mice compared with in wild-type mice after brain ischemia. Of note, the culture media harvested from the astrocytes with overexpression of NSSR1 or the Exon3 inclusive NCAM-L1 variant, or Exon4 inclusive CREB variant were all able to reduce the neuronal injury induced by OGD. The results provide the evidence demonstrating that: (1) Splicing factor NSSR1 is a new factor involved in reducing ischemic injury. (2) Ischemia induces NSSR1 expression in astrocytes, not in neurons. (3) NSSR1-mediated pathway in astrocytes is required for reducing ischemic neuronal injury. (4) NCAM-L1 and CREB are probably mediators in NSSR1-mediated pathway. In conclusion, our results suggest for the first time that NSSR1 may provide a novel mechanism for reducing neuronal injury after ischemia, probably through regulation on alternative splicing of NCAM-L1 and CREB in astrocytes. GLIA 2015;63:826-845
C1 [Qi, Yao; Li, Ya; Cui, Shi-Chao; Zhao, Jing-Jing; Liu, Xiao-Yan; Ji, Chun-Xia; Xu, Ping; Chen, Xian-Hua] Fudan Univ, State Key Lab Med Neurobiol, Shanghai 200032, Peoples R China.
   [Qi, Yao; Li, Ya; Cui, Shi-Chao; Zhao, Jing-Jing; Liu, Xiao-Yan; Ji, Chun-Xia; Xu, Ping; Chen, Xian-Hua] Fudan Univ, Lab Genom Physiol, Shanghai Med Coll, Dept Neurobiol,Sch Basic Med Sci,Inst Brain Sci, Shanghai 200032, Peoples R China.
   [Sun, Feng-Yan] Fudan Univ, Dept Neurobiol, Shanghai 200032, Peoples R China.
   [Sun, Feng-Yan] Fudan Univ, State Key Lab Med Neurobiol, Sch Basic Med Sci, Shanghai Med Coll, Shanghai 200032, Peoples R China.
C3 Fudan University; Fudan University; Fudan University; Fudan University
RP Chen, XH (corresponding author), Fudan Univ, Lab Genom Physiol, 138 Yixueyuan Rd, Shanghai 200032, Peoples R China.
EM xhchen@fudan.edu.cn
RI Chen, Xianhua/HLW-2251-2023; Liu, XiaoYan/GQA-7216-2022
OI Chen, Xianhua/0000-0002-6394-8726
FU National Foundation of Natural Sciences of China [31370788, 30770661,
   30971464, 81030020]; Shanghai Leading Academic Discipline Project [B111]
FX Grant sponsor: National Foundation of Natural Sciences of China; Grant
   numbers: 31370788; 30770661; 30971464; 81030020; Grant sponsor: Shanghai
   Leading Academic Discipline Project; Grant number: B111
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NR 40
TC 7
Z9 7
U1 0
U2 21
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0894-1491
EI 1098-1136
J9 GLIA
JI Glia
PD MAY
PY 2015
VL 63
IS 5
BP 826
EP 845
DI 10.1002/glia.22787
PG 20
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA CE2DB
UT WOS:000351622600008
PM 25627895
DA 2025-04-10
ER

PT J
AU Bogdanov, VY
   Balasubramanian, V
   Hathcock, J
   Vele, O
   Lieb, M
   Nemerson, Y
AF Bogdanov, VY
   Balasubramanian, V
   Hathcock, J
   Vele, O
   Lieb, M
   Nemerson, Y
TI Alternatively spliced human tissue factor: a circulating, soluble,
   thrombogenic protein
SO NATURE MEDICINE
LA English
DT Article
ID HUMAN ATHEROSCLEROTIC PLAQUES; SHED MEMBRANE MICROPARTICLES; FACTOR
   PATHWAY; FACTOR-VIIA; BLOOD; THROMBOSIS; LOCALIZATION; COAGULATION;
   ANTIBODIES; ACTIVATION
AB Tissue factor (TF) is an essential enzyme activator that forms a catalytic complex with FVIIa and initiates coagulation by activating FIX and FX, ultimately resulting in thrombin formation(1). TF is found in adventitia of blood vessels(2) and the lipid core of atherosclerotic plaques(3). In unstable coronary syndromes, plaque rupture initiates coagulation by exposing TF to blood(4,5). Biologically active TF has been detected in vessel walls and circulating blood(6). Elevated intravascular TF has been reported in diverse pro-thrombotic syndromes such as myocardial infarction, sepsis, anti-phospholipid syndrome and sickle-cell disease(7-10). It is unclear how TF circulates, although it may be present in pro-coagulant microparticles(11,12). We now report identification of a form of human TF generated by alternative splicing. Our studies indicate that alternatively spliced human tissue factor (asHTF) contains most of the extracellular domain of TF but lacks a transmembrane domain and terminates with a unique peptide sequence. asHTF is soluble, circulates in blood, exhibits pro-coagulant activity when exposed to phospholipids, and is incorporated into thrombi. We propose that binding of asHTF to the edge of thrombi contributes to thrombus growth by creating a surface that both initiates and propagates coagulation.
C1 CUNY Mt Sinai Sch Med, Dept Med, Div Thrombosis Res, New York, NY 10029 USA.
   CUNY Mt Sinai Sch Med, Cardiovasc Inst, New York, NY 10029 USA.
C3 City University of New York (CUNY) System; Icahn School of Medicine at
   Mount Sinai; City University of New York (CUNY) System; Icahn School of
   Medicine at Mount Sinai
RP Nemerson, Y (corresponding author), CUNY Mt Sinai Sch Med, Dept Med, Div Thrombosis Res, New York, NY 10029 USA.
OI Vele, Oana/0000-0002-4132-4832; Bogdanov, Vladimir/0000-0003-4968-1129
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NR 25
TC 389
Z9 425
U1 0
U2 7
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA
SN 1078-8956
J9 NAT MED
JI Nat. Med.
PD APR
PY 2003
VL 9
IS 4
BP 458
EP 462
DI 10.1038/nm841
PG 5
WC Biochemistry & Molecular Biology; Cell Biology; Medicine, Research &
   Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology; Research & Experimental
   Medicine
GA 663CD
UT WOS:000181987400037
PM 12652293
DA 2025-04-10
ER

PT J
AU Fan, J
   Fan, WY
   Lei, JZ
   Zhou, YY
   Xu, HF
   Kapoor, I
   Zhu, GQ
   Wang, JJ
AF Fan, Jia
   Fan, Wenyong
   Lei, Jianzhen
   Zhou, Yingying
   Xu, Hongfei
   Kapoor, Isha
   Zhu, Guoqing
   Wang, Juejin
TI Galectin-1 attenuates cardiomyocyte hypertrophy through splice -variant
   specific modulation of Cav1.2 calcium channel
SO BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
LA English
DT Article
DE Galectin-1; Ca(v)1.2 calcium channel; Alternative splicing;
   Cardiomyocyte hypertrophy
ID VASCULAR MYOGENIC TONE; CALMODULIN KINASE-II; BETA-SUBUNITS; HUMAN
   HEART; PROTEIN; PHOSPHORYLATION; IDENTIFICATION; FACILITATION;
   EXPRESSION; RECEPTOR
AB Pressure overload-induced cardiac hypertrophy occurs in response to chronic blood pressure increase, and dysfunction of Ca(v)1.2 calcium channel involves in cardiac hypertrophic processes by perturbing intracellular calcium concentration ([Ca-2(+)](i)) and calcium-dependent signaling. As a carbohydrate-binding protein, galectin-1 (Gal-1) is found to bind with Ca(v)1.2 channel, which regulates vascular Ca(v)1.2 channel functions and blood pressure. However, the potential roles of Gal-1 in cardiac Ca(v)1.2 channel (Ca(v)1.2(CM)) and cardiomyocyte hypertrophy remain elusive. By whole-cell patch clamp, we find Gal-1 decreases the I-Ca,I-L with or without isoproterenol (ISO) application by reducing the channel membrane expression in neonatal rat ventricular myocytes (NRVMs). Moreover, Gal-1 could inhibit the current densities of Ca(v)1.2(CM) by an alternative exon 9*-dependent manner in heterologously expressed HEK293 cells. Of significance, overexpression of Gal-1 diminishes ISO or KC1-induced [Ca-2(+)](i) elevation and attenuates ISO-induced hypertrophy in NRVMs. Mechanistically, Gal-1 decreases the ISO or Bay K8644-induced phosphorylation of intracellular calcium-dependent signaling proteins delta CaMKII and HDAC4, and inhibits ISO-triggered translocation of HDAC4 in NRVMs. Pathologically, we observe that the expressions of Gal-1 and Ca(v)1.2(E9 star) channels are synchronously increased in rat hypertrophic cardiomyocytes and hearts. Taken together, our study indicates that Gal-1 reduces the channel membrane expression to inhibit the currents of Ca(v)1.2(CM) in a splice-variant specific manner, which diminishes [Ca-2(+)](i) elevation, and attenuates cardiomyocyte hypertrophy by inhibiting the phosphorylation of delta CaMKII and HDAC4. Furthermore, our work suggests that dysregulated Gal-1 and Ca(v)1.2 alternative exon 9* might be attributed to the pathological processes of cardiac hypertrophy, and provides a potential anti-hypertrophic target in the heart.
C1 [Fan, Jia; Fan, Wenyong; Lei, Jianzhen; Zhou, Yingying; Zhu, Guoqing; Wang, Juejin] Nanjing Med Univ, Dept Physiol, Key Lab Cardiovasc Dis & Mol Intervent, Nanjing 211166, Jiangsu, Peoples R China.
   [Xu, Hongfei] Nanjing Med Univ, Dept Physiol, Nanjing 211166, Jiangsu, Peoples R China.
   [Kapoor, Isha] Cleveland Clin, Lerner Res Inst, Dept Canc Biol, Cleveland, OH 44195 USA.
   [Wang, Juejin] Nanjing Med Univ, Key Lab Human Funct Genom Jiangsu Prov, Nanjing 211166, Jiangsu, Peoples R China.
C3 Nanjing Medical University; Nanjing Medical University; Cleveland Clinic
   Foundation; Nanjing Medical University
RP Wang, JJ (corresponding author), Nanjing Med Univ, Dept Physiol, 101 Longmian Ave, Nanjing 211166, Jiangsu, Peoples R China.
EM juejinwang@njmu.edu.cn
RI Juejin, Wang/JAX-4081-2023; Xu, Hongfei/LTF-7428-2024; Fan,
   Wenyong/MFH-2376-2025
OI Fan, Wenyong/0009-0007-3990-3134; Zhu, Guo-Qing/0000-0002-3132-9592; Xu,
   Hongfei/0000-0003-1381-2123
FU National Natural Science Foundation of China [31371157, 81300193];
   Natural Science Foundation of Jiangsu Province [BK20171482]; Natural
   Science Foundation for Young Scholars of Jiangsu Province [BK20130887];
   Priority Academic Program Development of Jiangsu Higher Education
   Institutions (PAPD)
FX This work was supported by the National Natural Science Foundation of
   China (31371157, 81300193), the Natural Science Foundation of Jiangsu
   Province (BK20171482), the Natural Science Foundation for Young Scholars
   of Jiangsu Province (BK20130887), and a project funded by the Priority
   Academic Program Development of Jiangsu Higher Education Institutions
   (PAPD).
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NR 56
TC 15
Z9 16
U1 8
U2 25
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0925-4439
EI 0006-3002
J9 BBA-MOL BASIS DIS
JI Biochim. Biophys. Acta-Mol. Basis Dis.
PD JAN
PY 2019
VL 1865
IS 1
BP 218
EP 229
DI 10.1016/j.bbadis.2018.08.016
PG 12
WC Biochemistry & Molecular Biology; Biophysics; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics; Cell Biology
GA HC0MM
UT WOS:000451492500020
PM 30463690
OA Bronze, Green Published
DA 2025-04-10
ER

PT J
AU Sato, N
   Kawakami, T
   Nakayama, A
   Suzuki, H
   Kasahara, H
   Obinata, T
AF Sato, N
   Kawakami, T
   Nakayama, A
   Suzuki, H
   Kasahara, H
   Obinata, T
TI A novel variant of cardiac myosin-binding protein-C that is unable to
   assemble into sarcomeres is expressed in the aged mouse atrium
SO MOLECULAR BIOLOGY OF THE CELL
LA English
DT Article
ID FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; CHICKEN SKELETAL-MUSCLE; MYBP-C;
   STRIATED-MUSCLE; IMMUNOGLOBULIN SUPERFAMILY; DIFFERENTIAL EXPRESSION;
   CLINICAL MANIFESTATIONS; ISOFORM TRANSITIONS; SITE MUTATION; GENE
AB Cardiac myosin-binding protein-C (MyBP-C), also known as C-protein, is one of the major myosin-binding proteins localizing at A-bands. MyBP-C has three isoforms encoded by three distinct genes: fast-skeletal, slow-skeletal, and cardiac type. Herein, we are reporting a novel alternative spliced form of cardiac MyBP-C, MyBP-C(+), which includes an extra 30 nucleotides, encoding 10 amino acids in the carboxyl-terminal connectin/titin binding region. This alternative spliced form of MyBP-C(+) has a markedly decreased binding affinity to myosin filaments and connectin/titin in vitro and does not localize to A-bands in cardiac myocytes. When MyBP-C(+) was expressed in chicken cardiac myocytes, sarcomere structure was markedly disorganized, suggesting it has possible dominant negative effects on sarcomere organization. Expression of MyBP-C(+) is hardly detected in ventricles through cardiac development, but its expression gradually increases in atria and becomes the dominant form after 6 mo of age. The present study demonstrates an age-induced new isoform of cardiac MyBP-C harboring possible dominant negative effects on sarcomere assembly.
C1 Chiba Univ, Fac Sci, Dept Biol, Inage Ku, Chiba 2638522, Japan.
   Univ Florida, Coll Med, Dept Physiol & Funct Genom, Gainesville, FL 32610 USA.
   Chiba Univ, Grad Sch Sci & Technol, Inage Ku, Chiba 2638522, Japan.
C3 Chiba University; State University System of Florida; University of
   Florida; Chiba University
RP Chiba Univ, Fac Sci, Dept Biol, Inage Ku, Chiba 2638522, Japan.
EM sato@bio.s.chiba-u.ac.jp
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NR 66
TC 21
Z9 22
U1 0
U2 2
PU AMER SOC CELL BIOLOGY
PI BETHESDA
PA 8120 WOODMONT AVE, STE 750, BETHESDA, MD 20814-2755 USA
SN 1059-1524
EI 1939-4586
J9 MOL BIOL CELL
JI Mol. Biol. Cell
PD AUG
PY 2003
VL 14
IS 8
BP 3180
EP 3191
DI 10.1091/mbc.e02-10-0685
PG 12
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 713UY
UT WOS:000184877400010
PM 12925755
OA Green Published
DA 2025-04-10
ER

PT J
AU Chung, DW
   Volk, DW
   Arion, D
   Zhang, Y
   Sampson, AR
   Lewis, DA
AF Chung, Daniel W.
   Volk, David W.
   Arion, Dominique
   Zhang, Yun
   Sampson, Allan R.
   Lewis, David A.
TI Dysregulated ErbB4 Splicing in Schizophrenia: Selective Effects on
   Parvalbumin Expression
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID DORSOLATERAL PREFRONTAL CORTEX; CALCIUM-BINDING PROTEINS; RECEPTOR
   TYROSINE KINASE; GENE-EXPRESSION; GABAERGIC INTERNEURONS; NEURONS;
   DEFICITS; CLEAVAGE; TRANSCRIPTOME; INHIBITION
AB Objective: Alternative splicing of ErbB4 transcripts is dysregulated in the dorsolateral prefrontal cortex in schizophrenia. ErbB4 regulates the activity of parvalbumin interneurons, and therefore dysregulated ErbB4 splicing could contribute to lower parvatbumin interneuron activity and consequently lower parvalbumin levels in schizophrenia. However, ErbB4 is also present in calretinin interneurons, which are not affected in schizophrenia. Therefore, the authors hypothesized that dysregulated ErbB4 splicing occurs selectively in parvalbumin interneurons and is associated with lower parvatbumin levels in schizophrenia.
   Method: Tissue samples enriched in calretinin and parvatbumin interneurons were laser microdissected from dorsolateral prefrontal cortex layers 2 and 4, respectively, from matched pairs of schizophrenia and comparison subjects. Transcript levels for pan-ErbB4, four ErbB4 splicing variants (3M-a, JM-b, CYT-1, CYT-2), parvalbumin, and catretinin were quantified by quantitative polymerase chain reaction (qPCR) in each layer. Transcript levels for myocardial infarction associated transcript (MIAT), which regulates ErbB4 splicing, were quantified in gray matter by qPCR and in parvalbumin interneurons by microarray.
   Results: Catretinin and parvalbumin mRNAs were preferentially expressed in layers 2 and 4, respectively. In schizophrenia subjects, lower parvalbumin levels, higher CYT-1 and 3M-a levels, and tower CYT-2 and 3M-b levels were detected selectively in layer 4. In layer 4, the 3M-a/JM-b ratio was inversely correlated with parvalbumin levels in schizophrenia subjects. MIAT levels were preferentially higher in parvalbumin interneurons in schizophrenia subjects.
   Conclusions: These findings suggest that elevated MIAT expression alters ErbB4 splicing selectively in parvalbumin interneurons in schizophrenia. Dysregulated ErbB4 splicing in schizophrenia may contribute to lower activity of parvalbumin interneurons and an activity-dependent down-regulation of parvalbumin expression.
C1 [Lewis, David A.] Univ Pittsburgh, Sch Med, Dept Psychiat, Translat Neurosci Program, Pittsburgh, PA 15260 USA.
   Univ Pittsburgh, Sch Med, Med Scientist Training Program, Pittsburgh, PA USA.
   Univ Pittsburgh, Dept Stat, Pittsburgh, PA USA.
C3 Pennsylvania Commonwealth System of Higher Education (PCSHE); University
   of Pittsburgh; Pennsylvania Commonwealth System of Higher Education
   (PCSHE); University of Pittsburgh; Pennsylvania Commonwealth System of
   Higher Education (PCSHE); University of Pittsburgh
RP Lewis, DA (corresponding author), Univ Pittsburgh, Sch Med, Dept Psychiat, Translat Neurosci Program, Pittsburgh, PA 15260 USA.
EM lewisda@upmc.edu
RI Volk, David/G-4567-2014; Lewis, David/G-4053-2014
OI Lewis, David/0000-0002-3225-6778
FU NIMH [MH-043784, MH-103204]; Pfizer; University of Pittsburgh
FX Supported by NIMH grants MH-043784 to Dr. Lewis and MH-103204 to Dr.
   Lewis.Dr. Lewis currently receives investigator-initiated research
   support from Pfizer and in 2012-2014 served as a consultant in the areas
   of target identification and validation and new compound development to
   Autifony, Bristol-Myers Squibb, Concert Pharmaceuticals, and Sunovion.
   Ms. Zhang is currently a part-time employee of Janssen Pharmaceutical
   Research and Development under the auspices of the University of
   Pittsburgh's Curricular Practical Training during her Ph.D. degree
   program. Dr. Sampson is a statistical consultant to Janssen
   Pharmaceutical Research and Development. All other authors report no
   financial relationships with commercial interests.
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NR 40
TC 68
Z9 72
U1 0
U2 9
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 0002-953X
EI 1535-7228
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD JAN
PY 2016
VL 173
IS 1
BP 60
EP 68
DI 10.1176/appi.ajp.2015.15020150
PG 9
WC Psychiatry
WE Science Citation Index Expanded (SCI-EXPANDED); Social Science Citation Index (SSCI)
SC Psychiatry
GA DA2QK
UT WOS:000367640700013
PM 26337038
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Ciccotosto, GD
   Hand, TA
   Mains, RE
   Eipper, BA
AF Ciccotosto, GD
   Hand, TA
   Mains, RE
   Eipper, BA
TI Breeding stock-specific variation in peptidylglycine α-amidating
   monooxygenase messenger ribonucleic acid splicing in rat pituitary
SO ENDOCRINOLOGY
LA English
DT Article
ID PEPTIDE-PROCESSING ENZYME; CARDIAC TROPONIN-T; SPRAGUE-DAWLEY RATS;
   PACAP RECEPTOR; HYDROXYLATING MONOOXYGENASE; FUNCTIONAL EXPRESSION;
   SIGNAL-TRANSDUCTION; SECRETORY GRANULES; ROUTING DOMAINS; LOCUS-CERULEUS
AB Peptidylglycine alpha-amidating monooxygenase (PAM) is a bifunctional enzyme that catalyzes the carboxyl-terminal amidation of glycine-extended peptides in a two-step reaction involving a monooxygenase and a lyase. Several forms of PAM messenger RNA result from alternative splicing of the single copy PAM gene. The presence of alternately spliced exon A between the two enzymatic domains allows endoproteolytic cleavage to occur in selected tissues, generating soluble monooxygenase and membrane lyase from integral membrane PAM. While using an exon A antiserum, we made the unexpected observation that Charles River Sprague Dawley rats expressed for rus of PAM containing exon A in their pituitaries, whereas Harlan Sprague Dawley rats did not. Forms of PAM containing exon A were expressed in the atrium and hypothalamus of both types of Sprague Dawley rat, although in different proportions. PAM transmembrane domain splicing also differed between rat breeders, and full-length PAM-1 was not prevalent in the anterior pituitary of either type of rat. Despite striking differences in PAM splicing, no differences in levels of monooxygenase or lyase activity were observed in tissue or serum samples. The splicing patterns of other alternatively spliced genes, pituitary adenylate cyclase-activating polypeptide receptor type 1 and cardiac troponin T, did not vary with rat breeder. Strain-specific variations in the splicing of transcripts such as PAM must be taken into account in analyzing the resultant proteins, and knowledge of these differences should identify variations with functional significance.
C1 Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA.
   Johns Hopkins Univ, Sch Med, Dept Physiol, Baltimore, MD 21205 USA.
C3 Johns Hopkins University; Johns Hopkins University
RP Eipper, BA (corresponding author), Johns Hopkins Univ, Sch Med, Dept Neurosci, WBSB 907,725 N Wolfe St, Baltimore, MD 21205 USA.
EM beipper@jhmi.edu
FU NIDDK NIH HHS [DK-32949] Funding Source: Medline
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NR 53
TC 7
Z9 10
U1 0
U2 0
PU ENDOCRINE SOC
PI CHEVY CHASE
PA 8401 CONNECTICUT AVE, SUITE 900, CHEVY CHASE, MD 20815-5817 USA
SN 0013-7227
EI 1945-7170
J9 ENDOCRINOLOGY
JI Endocrinology
PD FEB
PY 2000
VL 141
IS 2
BP 476
EP 486
DI 10.1210/en.141.2.476
PG 11
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA 276ET
UT WOS:000084863200002
PM 10650926
DA 2025-04-10
ER

PT J
AU Wu, HC
   Yamankurt, G
   Luo, JL
   Subramaniam, J
   Hashmi, SS
   Hu, HZ
   Cunha, SR
AF Wu, Henry C.
   Yamankurt, Gokay
   Luo, JiaLie
   Subramaniam, Janani
   Hashmi, Syed Shahrukh
   Hu, Hongzhen
   Cunha, Shane R.
TI Identification and characterization of two ankyrin-B isoforms in
   mammalian heart
SO CARDIOVASCULAR RESEARCH
LA English
DT Article
DE Ankyrin-B; Alternative splicing; Sodium-calcium exchanger; Obscurin;
   Cardiomyocytes
ID CARDIAC-ARRHYTHMIA; OBSCURIN; MUSCLE; ORGANIZATION; GENE; LOCALIZATION;
   DYSFUNCTION; EXPRESSION; DYSTROPHIN; STABILITY
AB Aims Excitation-contraction coupling in cardiomyocytes requires the proper targeting and retention of membrane proteins to unique domains by adaptor proteins like ankyrin-B. While ankyrin-B has been shown to interact with a variety of membrane and structural proteins located at different subcellular domains in cardiomyocytes, what regulates the specificity of ankyrin-B for particular interacting proteins remains elusive.
   Methods and results Here, we report the identification of two novel ankyrin-B isoforms AnkB-188 and AnkB-212 in human, rat, and mouse hearts. Novel cDNAs for both isoforms were isolated by long-range PCR of reverse-transcribed mRNA isolated from human ventricular tissue. The isoforms can be discriminated based on their function and subcellular distribution in cardiomyocytes. Heterologous overexpression of AnkB-188 increases sodium-calcium exchanger (NCX) membrane expression and current, while selective knockdown of AnkB-188 in cardiomyocytes reduces NCX expression and localization in addition to causing irregular contraction rhythms. Using an isoform-specific antibody, we demonstrate that the expression of AnkB-212 is restricted to striated muscles and is localized to the M-line of cardiomyocytes by interacting with obscurin. Selective knockdown of AnkB-212 significantly attenuates the expression of endogenous ankyrin-B at the M-line but does not disrupt NCX expression at transverse tubules in cardiomyocytes.
   Conclusion The identification and characterization of two functionally distinct ankyrin-B isoforms in heart provide compelling evidence that alternative splicing of the ANK2 gene regulates the fidelity of ankyrin-B interactions with proteins.
C1 [Wu, Henry C.; Subramaniam, Janani; Cunha, Shane R.] Univ Texas Houston, Sch Med, Dept Integrat Biol & Pharmacol, Houston, TX 77030 USA.
   [Yamankurt, Gokay] Northwestern Univ, Dept Chem, Evanston, IL 60208 USA.
   [Luo, JiaLie; Hu, Hongzhen] Washington Univ, Sch Med, Pain Ctr, Ctr Study Itch,Dept Anesthesiol, St Louis, MO 63110 USA.
   [Hashmi, Syed Shahrukh] Univ Texas Houston, Sch Med, Dept Pediat, Houston, TX 77030 USA.
C3 University of Texas System; University of Texas Health Science Center
   Houston; Northwestern University; Washington University (WUSTL);
   University of Texas System; University of Texas Health Science Center
   Houston
RP Cunha, SR (corresponding author), Univ Texas Houston, Sch Med, Dept Integrat Biol & Pharmacol, 6431 Fannin St,MSE R331, Houston, TX 77030 USA.
EM shane.r.cunha@uth.tmc.edu
RI Hashmi, S./H-6925-2019
OI Hu, Hongzhen/0000-0002-8967-7522; Subramaniam,
   Janani/0000-0002-0533-7687
FU National Institute of Health [HL092232, GM101218]
FX This work was supported by the National Institute of Health (grant
   numbers HL092232 to S.R.C.; GM101218 to H.H.).
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NR 33
TC 21
Z9 24
U1 0
U2 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0008-6363
EI 1755-3245
J9 CARDIOVASC RES
JI Cardiovasc. Res.
PD SEP 1
PY 2015
VL 107
IS 4
BP 466
EP 477
DI 10.1093/cvr/cvv184
PG 12
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA CT5LE
UT WOS:000362850800010
PM 26109584
OA Green Published, Green Submitted, Bronze
DA 2025-04-10
ER

PT J
AU Shankar, SS
   Brater, DC
AF Shankar, SS
   Brater, DC
TI Loop diuretics: from the Na-K-2Cl transporter to clinical use
SO AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
LA English
DT Review
DE edematous disorders; furosemide
ID CONGESTIVE-HEART-FAILURE; CHRONIC RENAL-INSUFFICIENCY; THICK ASCENDING
   LIMB; NONSTEROIDAL ANTIINFLAMMATORY DRUGS; HIGH-DOSE FUROSEMIDE;
   AQUAPORIN WATER CHANNELS; ANTI-INFLAMMATORY DRUGS; K-CL COTRANSPORTERS;
   NEPHROTIC SYNDROME; CONTINUOUS-INFUSION
AB The diuretic response to loop diuretics in various disease states has consistently been found to be subnormal. One of the key determinants of the degree of diuretic response is the functional integrity of the sodium-potassium-chloride transporter in the loop of Henle. Studies in animal models suggest that expression/activity of the transporter may be affected by factors such as altered natural splicing events of NKCC2 (the gene encoding for the renal transporter), renal prostanoids, vasopressin, and other autacoids. We have reviewed the pharmacokinetics and pharmacodynamics of loop diuretics in health and in edematous disorders for which they are used. On the basis of evidence reviewed in this paper, we propose that altered expression or activity of the sodium-potassium-chloride transporter in the loop of Henle, in conjunction with events occurring in other segments of the nephron, possibly accounts for the altered diuretic response to these agents. Thus the modulators of this altered expression/activity could serve as important therapeutic targets for alternative diuretic regimens in these conditions.
C1 Indiana Univ, Sch Med, Dept Med, Div Clin Pharmacol, Indianapolis, IN 46202 USA.
C3 Indiana University System; Indiana University Indianapolis
RP Indiana Univ, Sch Med, Dept Med, Div Clin Pharmacol, Fesler 302,1120 S Dr, Indianapolis, IN 46202 USA.
EM dbrater@iupui.edu
FU NCRR NIH HHS [M01-RR-00750] Funding Source: Medline; NIA NIH HHS
   [R01-AG-07631] Funding Source: Medline; NIDDK NIH HHS [R01-DK-37994]
   Funding Source: Medline
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NR 103
TC 116
Z9 126
U1 0
U2 15
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 1931-857X
EI 1522-1466
J9 AM J PHYSIOL-RENAL
JI Am. J. Physiol.-Renal Physiol.
PD JAN
PY 2003
VL 284
IS 1
BP F11
EP F21
DI 10.1152/ajprenal.00119.2002
PG 11
WC Physiology; Urology & Nephrology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology; Urology & Nephrology
GA 623NK
UT WOS:000179709600003
PM 12473535
DA 2025-04-10
ER

PT J
AU Yan, K
   Sun, YX
   Yang, YM
   Liu, B
   Dong, MY
AF Yan, Kai
   Sun, Yixi
   Yang, Yanmei
   Liu, Bei
   Dong, Minyue
TI Case Report: Identification Pathogenic Abnormal Splicing of BBS1
   Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation
SO FRONTIERS IN GENETICS
LA English
DT Article
DE Bardet-Biedl syndrome type I; BBS1; alternative splicing; whole-exome
   sequencing (WES); premature termination codon (PTC); nonsense-mediated
   decay (NMD)
ID GENETICS
AB Conventionally, protein features affected by missense mutation was attributed to destroy an important domain with amino acid alternation, and it was difficult to clearly specify the pathogenicity of a novel missense mutation. Nevertheless, the associations between missense mutations and abnormal splicing are nowadays increasingly reported. Rarely, some missense mutations, locating at the non-canonical splicing sites, are observed to damage the splicing process. In this study, a couple has three adverse pregnancy history that the affected fetus presented typical polydactyly, renal abnormalities, and cerebral ventriculomegaly. To identify its genetic etiology, whole-exome sequencing (WES) was performed and a missense mutation c.1339G > A was identified, which was located at the non-canonical splicing sites of the BBS1 gene. Then, reverse transcription polymerase chain reaction was carried out and demonstrated extra 115bp originating from intron 13 cut into cDNA, which generated a predicted premature termination codon (PTC) in the BBS1 protein. Further expression analysis by using real-time reverse-transcribed PCR confirmed the occurrence of nonsense-mediated decay (NMD). Therefore, the pathogenicity of the missense mutation c.1339G > A was explicit and our study helped to extend the spectrum of pathogenic mutations in Bardet-Biedl syndrome type I.
C1 [Yan, Kai; Sun, Yixi; Yang, Yanmei; Liu, Bei; Dong, Minyue] Zhejiang Univ, Womens Hosp, Sch Med, Dept Reprod Genet, Hangzhou, Peoples R China.
   [Yan, Kai; Sun, Yixi; Yang, Yanmei; Liu, Bei; Dong, Minyue] Zhejiang Univ, Key Lab Reprod Genet, Minist Educ, Hangzhou, Peoples R China.
C3 Zhejiang University; Zhejiang University
RP Dong, MY (corresponding author), Zhejiang Univ, Womens Hosp, Sch Med, Dept Reprod Genet, Hangzhou, Peoples R China.; Dong, MY (corresponding author), Zhejiang Univ, Key Lab Reprod Genet, Minist Educ, Hangzhou, Peoples R China.
EM dongmy@zju.edu.cn
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NR 22
TC 2
Z9 3
U1 0
U2 4
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
EI 1664-8021
J9 FRONT GENET
JI Front. Genet.
PD MAY 27
PY 2022
VL 13
AR 849562
DI 10.3389/fgene.2022.849562
PG 6
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 1Z1YA
UT WOS:000808627100001
PM 35692835
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Vassilakos, G
   Philippou, A
   Tsakiroglou, P
   Koutsilieris, M
AF Vassilakos, George
   Philippou, Anastassios
   Tsakiroglou, Panagiotis
   Koutsilieris, Michael
TI Biological activity of the e domain of the IGF-1Ec as addressed by
   synthetic peptides
SO HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
LA English
DT Review
DE E peptides; Human cells; IGF-1Ec
ID GROWTH-FACTOR-I; MGF E-PEPTIDE; IGF-I; SKELETAL-MUSCLE; MESSENGER-RNAS;
   SPLICE VARIANTS; GENE-EXPRESSION; MYOCARDIAL-INFARCTION; MECHANICAL
   OVERLOAD; ISOFORM EXPRESSION
AB Insulin-like growth factor-1 (IGF-1) is a multipotent growth factor involved in the growth, development and regulation of homeostasis in a tissue-specific manner. Alternative splicing, multiple transcription initiation sites and different polyadelynation signals give rise to diverse mRNA isoforms, such as IGF-1Ea, IGF-1Eb and IGF-1Ec transcripts. There is increasing interest in the expression of the IGF-1 isoforms and their potential distinct biological role. IGF-1Ec results from alternative splicing of exons 4-5-6 and its expression is upregulated in various conditions and pathologies. Recent studies have shown that IGF-1Ec is preferentially increased after injury in skeletal muscle during post-infarctal myocardium remodelling and in cancer tissues and cell lines. A synthetic analogue corresponding to the last 24 aa of the E domain of the IGF-1Ec isoform has been used to elucidate its potential biological role. The aim of the present review is to describe and discuss the putative bioactivity of the E domain of the IGF-1Ec isoform.
C1 [Vassilakos, George; Philippou, Anastassios; Tsakiroglou, Panagiotis; Koutsilieris, Michael] Univ Athens, Sch Med, Dept Expt Physiol, Goudi 11527, Greece.
C3 National & Kapodistrian University of Athens
RP Koutsilieris, M (corresponding author), Univ Athens, Sch Med, Dept Expt Physiol, 75 Micras Asias Str, Goudi 11527, Greece.
EM mkoutsil@med.uoa.gr
RI Koutsilieris, Michael/AAD-3648-2019; Philippou, Anastassios/H-2748-2019
OI Philippou, Anastassios/0000-0003-0047-3003; Tsakiroglou,
   Panagiotis/0000-0001-8823-9507
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NR 98
TC 15
Z9 17
U1 0
U2 1
PU SPRINGER INTERNATIONAL PUBLISHING AG
PI CHAM
PA GEWERBESTRASSE 11, CHAM, CH-6330, SWITZERLAND
SN 1109-3099
EI 2520-8721
J9 HORM-INT J ENDOCRINO
JI Horm.-Int. J. Endocrinol. Metab.
PD APR-JUN
PY 2014
VL 13
IS 2
BP 182
EP 196
DI 10.1007/BF03401333
PG 15
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA AQ2JH
UT WOS:000342611100002
PM 24776619
DA 2025-04-10
ER

PT J
AU Ikeda, Y
   Abe-Dohmae, S
   Munehira, Y
   Aoki, R
   Kawamoto, S
   Furuya, A
   Shitara, K
   Amachi, T
   Kioka, N
   Matsuo, M
   Yokoyama, S
   Ueda, K
AF Ikeda, Y
   Abe-Dohmae, S
   Munehira, Y
   Aoki, R
   Kawamoto, S
   Furuya, A
   Shitara, K
   Amachi, T
   Kioka, N
   Matsuo, M
   Yokoyama, S
   Ueda, K
TI Posttranscriptional regulation of human ABCA7 and its function for the
   apoA-I-dependent lipid release
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE ABCA1; ABCA7; ABC proteins; cholesterol; alternative splicing;
   post-transcriptional regulation; phospholipids; apoA-I
ID HIGH-DENSITY-LIPOPROTEIN; CASSETTE TRANSPORTER 1; TANGIER-DISEASE;
   EXTRACELLULAR DOMAIN; PLASMA-MEMBRANE; BINDING; MUTATIONS; GENE;
   CHOLESTEROL; CELLS
AB ABCA7 is expressed predominantly in myelo-lymphatic tissues or reticuloendothelial cells. Physiological role and function of this protein are not fully understood. We isolated the full-length cDNA (type I) and a splicing variant cDNA (type II) of human ABCA7, and developed monoclonal antibodies against extracellular domain (ECD)1 of ABCA7. RT-PCR experiments suggested that human ABCA7 gene produced the type II mRNA in a tissue-specific manner. Immunostaining revealed that the type I ABCA7, expressed in HEK293 cells, was localized to the plasma membrane and ECD I was exposed to the extracellular space as was the case for ABCA1. HEK293 cells expressing type I ABCA7 showed apoA-I-dependent cholesterol and phospholipid release. In contrast, type II ABCA7 appeared to be localized mainly in endoplasmic reticulum, and did not show apoA-I-dependent cholesterol and phospholipid release. Alternative splicing could be involved in the post-transcriptional regulation of the expression and function of human ABCA7. (C) 2003 Elsevier Inc. All rights reserved.
C1 Kyoto Univ, Grad Sch Agr, Div Appl Life Sci, Lab Cellular Biochem, Kyoto 6068502, Japan.
   Nagoya City Univ, Grad Sch Med Sci, Nagoya, Aichi 4678601, Japan.
   Kyowa Hakko Kogyo Co Ltd, Tokyo Res Labs, Tokyo 1948533, Japan.
C3 Kyoto University; Nagoya City University; Kyowa Kirin Ltd
RP Kyoto Univ, Grad Sch Agr, Div Appl Life Sci, Lab Cellular Biochem, Kyoto 6068502, Japan.
EM uedak@kais.kyoto-u.ac.jp
RI Ueda, Kazumitsu/KPY-2837-2024
OI Kioka, Noriyuki/0000-0002-2708-537X; Ueda, Kazumitsu/0000-0003-2980-6078
FU NCI NIH HHS [CA087678] Funding Source: Medline
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NR 24
TC 67
Z9 72
U1 0
U2 10
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD NOV 14
PY 2003
VL 311
IS 2
BP 313
EP 318
DI 10.1016/j.bbrc.2003.10.002
PG 6
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 743QB
UT WOS:000186584100011
PM 14592415
DA 2025-04-10
ER

PT J
AU Hitti, E
   Khabar, KSA
AF Hitti, Edward
   Khabar, Khalid S. A.
TI Sequence variations affecting AU-rich element function and disease
SO FRONTIERS IN BIOSCIENCE-LANDMARK
LA English
DT Article
DE AU-rich Elements; Post-Transcriptional; Mrna Stability; Translation;
   Alternative Splicing; Alternative Polyadenylation; Single Nucleotide
   Polymorphism; Deletion; Insertion; Diabetes; Cancer; Cardiovascular
   Disease; Inflammation; Osteoporosis; Mantle Cell Lymphoma; Colorectal
   Adenocarcinoma; Rheumatoid Arthritis; Hypercholesterolemia;
   Hirschsprung's Disease; Systemic Lupus Erythematosus
ID MESSENGER-RNA STABILITY; ENDOTHELIAL GROWTH-FACTOR; THROMBIN-ACTIVATABLE
   FIBRINOLYSIS; SINGLE NUCLEOTIDE POLYMORPHISMS; THYMIDYLATE-SYNTHASE
   GENE; ACUTE REGULATORY PROTEIN; PHOSDUCIN-LIKE PROTEIN; RECEPTOR
   BETA-ISOFORM; 3'-UNTRANSLATED REGION; CYCLIN D1
AB Adenylate-uridylate rich elements (AREs) in the 3'UTRs of many transiently expressed genes regulate mRNA instability and translation. Such ARE-genes are involved in vital biological processes like cellular growth, differentiation, and immunity. Defects in their expression contribute to a variety of disease conditions like cancer, autoimmune diseases, diabetes, and cardiovascular and chronic inflammatory diseases. Over the past two decades, considerable progress has been made in understanding the mode of regulation of AREs containing mRNAs by RNA-binding proteins, miRNAs, and signaling pathways. This review focuses on the less documented sequence variation affecting ARE functions and its relation to disease. We discuss reports describing genetic polymorphisms, alternative polyadenylation, and alternative splicing that can lead to the loss or gain of function of AREs, often with significant implications to disease.
C1 [Hitti, Edward; Khabar, Khalid S. A.] King Faisal Specialist Hosp & Res Ctr, BioMol Res Program, Riyadh 11211, Saudi Arabia.
C3 King Faisal Specialist Hospital & Research Center
RP Khabar, KSA (corresponding author), King Faisal Specialist Hosp & Res Ctr, BioMol Res Program, P3354,MBC-03,Takhasusi Rd, Riyadh 11211, Saudi Arabia.
EM khabar@kfshrc.edu.sa
RI Hitti, Edward/GVU-3983-2022; Khabar, Khalid/A-4772-2011
OI Hitti, Edward/0000-0003-1587-2824; Khabar, Khalid/0000-0003-1003-9788
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NR 147
TC 20
Z9 24
U1 0
U2 5
PU FRONTIERS IN BIOSCIENCE INC
PI IRVINE
PA 16471 SCIENTIFIC WAY, IRVINE, CA 92618 USA
SN 1093-9946
EI 1093-4715
J9 FRONT BIOSCI-LANDMRK
JI Front. Biosci.
PD JAN 1
PY 2012
VL 17
BP 1846
EP 1860
DI 10.2741/4023
PG 15
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 889DT
UT WOS:000300054400018
PM 22201840
OA Bronze
DA 2025-04-10
ER

PT J
AU Kim, Y
   Kong, M
   Lee, C
AF Kim, Younyoung
   Kong, Minyoung
   Lee, Chaeyoung
TI Association of intronic sequence variant in the gene encoding spleen
   tyrosine kinase with susceptibility to vascular dementia
SO WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Dementia; genetics; genome-wide association study; polymorphism; spleen
   tyrosine kinase
ID EXONIC SPLICING SILENCERS; GENOME-WIDE ASSOCIATION; ISCHEMIC-STROKE;
   RISK-FACTOR; POLYMORPHISMS; ELEMENTS; SET
AB Objectives. This study was aimed to identify a novel strong candidate gene for the susceptibility to vascular dementia (VaD) with comprehensive evidences. Methods. A preliminary genome-wide association study (GWAS) was conducted to identify nucleotide sequence variants susceptible to VaD. Literature-based analysis and network analysis were conducted to single out the best candidate gene, and its association was thoroughly examined over its whole sequences. Functions of the most probable variant were predicted by in silico alternative splicing analysis and evaluated by minigene assay. Results. The GWAS showed the most significant variant in spleen tyrosine kinase (SYK) gene. This concurred with the suggestions from both literature-based analysis and network analysis. Further association analysis over the whole SYK gene revealed that rs290227 in intron 8 was the most signifi cant (P = 7.38 x 10(-11)). The subsequent in silico analysis showed that the intronic variant played potential roles in alternative splicing by skipping exon 8 or by truncating exon 9. It was validated by in vivo minigene assay that the G allele of rs290227 induced the delayed splicing. Conclusions. We suggested a novel association of the VaD susceptibility with an intronic variant of rs290227 in the SYK gene. Its G allele could render mature transcripts inappropriately by intron retention and thus lead to a genetic risk for VaD.
C1 [Kim, Younyoung; Kong, Minyoung; Lee, Chaeyoung] Soongsil Univ, Dept Bioinformat & Life Sci, Seoul 156743, South Korea.
C3 Soongsil University
RP Lee, C (corresponding author), Soongsil Univ, Dept Bioinformat & Life Sci, 511 Sangdo Dong, Seoul 156743, South Korea.
EM clee@ssu.ac.kr
RI Lee, Chaeyoung/C-7929-2012
OI Lee, Chaeyoung/0000-0002-2940-1778
FU National Research Foundation of Korea (NRF); Ministry of Education,
   Science, and Technology [2009-0071063]
FX We would like to express our gratitude to three anonymous reviewers for
   valuable comments. We acknowledge DNA Link Inc. for providing us the
   control data utilized in our preliminary study. This study was supported
   by Basic Science Research Program through the National Research
   Foundation of Korea (NRF) funded by the Ministry of Education, Science,
   and Technology (2009-0071063).
CR [Anonymous], DIAGN STAT MEN MENT
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NR 30
TC 23
Z9 26
U1 0
U2 5
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1562-2975
J9 WORLD J BIOL PSYCHIA
JI World J. Biol. Psychiatry
PD APR
PY 2013
VL 14
IS 3
BP 220
EP 226
DI 10.3109/15622975.2011.559272
PG 7
WC Psychiatry
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Psychiatry
GA 109FL
UT WOS:000316351700003
PM 23480133
DA 2025-04-10
ER

PT J
AU Wei, CJ
   Niu, YF
   Chen, BJ
   Wang, YX
   Cai, HF
   Han, RL
   Tian, YD
   Liu, XJ
   Guo, W
   Kang, XT
   Li, ZJ
AF Wei, Chengjie
   Niu, Yufang
   Chen, Bingjie
   Wang, Yanxing
   Cai, Hanfang
   Han, Ruili
   Tian, Yadong
   Liu, Xiaojun
   Guo, Wei
   Kang, Xiangtao
   Li, Zhuanjian
TI Divergent Regulatory Roles of Transcriptional Variants of the Chicken
   LDB3 Gene in Muscle Shaping
SO JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
LA English
DT Article
DE LDB3; Alternative splicing; Myoblasts differentiation; Myoblasts
   regeneration; IGF2BP1; MYHC
ID CONTAINING PROTEIN; SEVERE FORM; RNA; CYPHER; PDZ; CARDIOMYOPATHY;
   ABLATION; FAMILY; BINDS; MOTIF
AB LIM domain binding 3 (LDB3) serves as a striated muscle-specific Z-band alternatively spliced protein that plays an important role in mammalian skeletal muscle development, but its regulatory role and molecular mechanism in avian muscle development are still unclear. In this study, we reanalyzed RNA sequencing data sets of 1415 samples from 21 chicken tissues published in the NCBI GEO database. First, three variants (LDB3-X, LDB3-XN1, and LDB3-XN2) generated by alternative splicing of the LDB3 gene were identified in chicken skeletal muscle, among which LDB3-XN1 and LDB3-XN2 are novel variants. LDB3-X and LDB3-XN1 are derived from exon skipping in chicken skeletal muscle at the E18-D7 stage and share three LIM domains, but LDB3-XN2 lacks a LIM domain. Our results preliminarily suggest that the formation of three variants of LDB3 is regulated by RBM20. The three splice isomers have divergent functions in skeletal muscle according to in vitro and in vivo assays. Finally, we identified the mechanism by which different variants play different roles through interactions with IGF2BP1 and MYHC, which promote the proliferation and differentiation of chicken myoblasts, in turn regulating chicken myogenesis. In conclusion, this study revealed the divergent roles of three LDB3 variants in chicken myogenesis and muscle remodeling and demonstrated their regulatory mechanism through protein-protein interactions.
C1 [Wei, Chengjie; Niu, Yufang; Chen, Bingjie; Wang, Yanxing; Cai, Hanfang; Han, Ruili; Tian, Yadong; Liu, Xiaojun; Kang, Xiangtao; Li, Zhuanjian] Henan Agr Univ, Coll Anim Sci & Technol, Zhengzhou 450046, Peoples R China.
   [Han, Ruili; Tian, Yadong; Liu, Xiaojun; Kang, Xiangtao; Li, Zhuanjian] Henan Key Lab Innovat & Utilizat Chicken Germplasm, Zhengzhou 450046, Peoples R China.
   [Guo, Wei] Univ Wisconsin, Dept Anim & Dairy Sci, Madison, WI 53706 USA.
C3 Henan Agricultural University; University of Wisconsin System;
   University of Wisconsin Madison
RP Kang, XT; Li, ZJ (corresponding author), Henan Agr Univ, Coll Anim Sci & Technol, Zhengzhou 450046, Peoples R China.; Kang, XT; Li, ZJ (corresponding author), Henan Key Lab Innovat & Utilizat Chicken Germplasm, Zhengzhou 450046, Peoples R China.; Guo, W (corresponding author), Univ Wisconsin, Dept Anim & Dairy Sci, Madison, WI 53706 USA.
EM wguo2@wisc.edu; xtkang2001@263.net; lizhuanjian@henau.edu.cn
RI Yang, Guoqing/Q-7238-2017; guo, wei/E-8906-2012; Huang,
   Shu-cheng/KTH-9549-2024; Li, Yuchen/HJI-4026-2023
OI guo, wei/0000-0002-9158-8107
FU National Natural Science Foundation of China [32372873]; Program for
   Science& Technology Innovation Talents in Universities of Henan Province
   [22HASTIT038]; Zhongyuan Youth Talent Support Program [ZYYCYU202012156]
FX This work was supported by grants from the National Natural Science
   Foundation of China (32372873), the Program for Science& Technology
   Innovation Talents in Universities of Henan Province (22HASTIT038), and
   the Zhongyuan Youth Talent Support Program (ZYYCYU202012156).
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NR 42
TC 1
Z9 1
U1 1
U2 32
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0021-8561
EI 1520-5118
J9 J AGR FOOD CHEM
JI J. Agric. Food Chem.
PD MAY 20
PY 2024
VL 72
IS 21
BP 12240
EP 12250
DI 10.1021/acs.jafc.4c00520
EA MAY 2024
PG 11
WC Agriculture, Multidisciplinary; Chemistry, Applied; Food Science &
   Technology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Agriculture; Chemistry; Food Science & Technology
GA SL3P4
UT WOS:001228030800001
PM 38764183
DA 2025-04-10
ER

PT J
AU Yazdani, HO
   Geller, DA
   Tohme, S
AF Yazdani, Hamza O.
   Geller, David A.
   Tohme, Samer
TI Spliced CEACAM1: A Potential Novel Biomarker and Target for Ameliorating
   Liver Ischemia-reperfusion Injury
SO TRANSPLANTATION
LA English
DT Article
AB Hepatic ischemia-reperfusion injury remains a significant challenge in liver transplantation potentially leading to delayed graft function, primary nonfunction, and sometimes rejection. Understanding the underlying mechanisms and implementing mitigation strategies are essential for improving transplant outcomes and patient survival. A recent study published by Dery et al shows that alternative splicing of carcinoembryonic antigen-related cell adhesion molecule 1 regulated by hypoxia inducible factor 1 alpha under stress enhances hepatic ischemia tolerance in mice and humans. The authors identified a direct binding of hypoxia inducible factor 1 alpha to the promoter region of polypyrimidine tract-binding protein 1 splicing enzyme, resulting in carcinoembryonic antigen-related cell adhesion molecule 1-short induction and improved posttransplant outcomes. This study has notably elucidated a potential biomarker pertaining to the quality of liver transplant donor grafts.
C1 [Yazdani, Hamza O.; Geller, David A.; Tohme, Samer] Univ Pittsburgh, Med Ctr, Dept Surg, Pittsburgh, PA 15213 USA.
   [Tohme, Samer] Univ Pittsburgh, Med Ctr, UPMC Montefiore, Dept Surg, 3459 Fifth Ave,7 South, Pittsburgh, PA 15213 USA.
C3 Pennsylvania Commonwealth System of Higher Education (PCSHE); University
   of Pittsburgh; Pennsylvania Commonwealth System of Higher Education
   (PCSHE); University of Pittsburgh; UPMC Presbyterian
RP Tohme, S (corresponding author), Univ Pittsburgh, Med Ctr, UPMC Montefiore, Dept Surg, 3459 Fifth Ave,7 South, Pittsburgh, PA 15213 USA.
EM tohmest@upmc.edu
RI Tohme, Samer/AAC-7349-2021; Geller, David/AAV-8082-2020
OI Yazdani, Hamza/0000-0002-3437-0339
CR Baralle FE, 2017, NAT REV MOL CELL BIO, V18, P437, DOI 10.1038/nrm.2017.27
   Dery KJ, 2023, SCI TRANSL MED, V15, DOI 10.1126/scitranslmed.adf2059
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NR 10
TC 3
Z9 3
U1 2
U2 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0041-1337
EI 1534-6080
J9 TRANSPLANTATION
JI Transplantation
PD MAR
PY 2024
VL 108
IS 3
BP 585
EP 587
DI 10.1097/TP.0000000000004886
PG 3
WC Immunology; Surgery; Transplantation
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Immunology; Surgery; Transplantation
GA IU5F2
UT WOS:001168856300005
PM 38385338
OA Bronze
DA 2025-04-10
ER

PT J
AU Stark, JM
   Bazett-Joness, DP
   Herfort, M
   Roth, MB
AF Stark, JM
   Bazett-Joness, DP
   Herfort, M
   Roth, MB
TI SR proteins are sufficient for exon bridging across an intron
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
   AMERICA
LA English
DT Article
ID PRE-MESSENGER-RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN; SPLICING ENHANCER
   COMPLEX; T ALTERNATIVE EXON; DISTINCT FUNCTIONS; HUMAN FIBRONECTIN;
   PREMESSENGER RNA; SITE SELECTION; GENE; RECOGNITION
AB We have developed a defined system to characterize the role of SR proteins and exonic enhancers in directly promoting splice-site interactions across an intron, Using RNA affinity chromatography, we find that SR proteins alone are sufficient to promote the specific association of the enhancer-containing exon 5 with the adjoining exon 6 from avian cardiac troponin-T. Direct visualization of this exon/exon association by electron spectroscopic imaging shows it to be highly specific, Furthermore, using in vivo characterized mutants of exon 5, we also show that this exon/exon association depends on the splicing enhancer within exon 5. These results suggest a model by which SR proteins may function through exonic enhancers to directly promote exon bridging.
C1 Fred Hutchinson Canc Res Ctr, Div Basic Sci, Seattle, WA 98104 USA.
   Fred Hutchinson Canc Res Ctr, Mol & Cellular Biol Program, Seattle, WA 98104 USA.
   Univ Calgary, Dept Anat, Calgary, AB T2N 4N1, Canada.
   Univ Calgary, Dept Med Biochem, Calgary, AB T2N 4N1, Canada.
C3 Fred Hutchinson Cancer Center; Fred Hutchinson Cancer Center; University
   of Calgary; University of Calgary
RP Roth, MB (corresponding author), Fred Hutchinson Canc Res Ctr, Div Basic Sci, 1124 Columbia St, Seattle, WA 98104 USA.
EM mroth@fred.fhcrc.org
FU NIGMS NIH HHS [T32 GM07270, R01 GM048435, T32 GM007270, GM48435-01A2]
   Funding Source: Medline
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NR 44
TC 32
Z9 34
U1 0
U2 0
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD MAR 3
PY 1998
VL 95
IS 5
BP 2163
EP 2168
DI 10.1073/pnas.95.5.2163
PG 6
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA ZA471
UT WOS:000072366600042
PM 9482856
OA Green Published
DA 2025-04-10
ER

PT J
AU Kalinina, M
   Skvortsov, D
   Kalmykova, S
   Ivanov, T
   Dontsova, O
   Pervouchine, DD
AF Kalinina, Marina
   Skvortsov, Dmitry
   Kalmykova, Svetlana
   Ivanov, Timofei
   Dontsova, Olga
   Pervouchine, Dmitri D.
TI Multiple competing RNA structures dynamically control alternative
   splicing in the human ATE1 gene
SO NUCLEIC ACIDS RESEARCH
LA English
DT Article
ID N-TERMINAL ARGINYLATION; SECONDARY STRUCTURE; TRANSCRIPTION ELONGATION;
   PROTEIN TRANSFERASE; BRAIN PROTEINS; ARGINYLTRANSFERASE; EXPRESSION;
   ARRHYTHMIA; LANDSCAPE; PHENOTYPE
AB The mammalian Ate1 gene encodes an arginyl transferase enzyme with tumor suppressor function that depends on the inclusion of one of the two mutually exclusive exons (MXE), exons 7a and 7b. We report that the molecular mechanism underlying MXE splicing in Ate1 involves five conserved regulatory intronic elements R1-R5, of which R1 and R4 compete for base pairing with R3, while R2 and R5 form an ultra-long-range RNA structure spanning 30 Kb. In minigenes, single and double mutations that disrupt base pairings in R1R3 and R3R4 lead to the loss of MXE splicing, while compensatory triple mutations that restore RNA structure revert splicing to that of the wild type. In the endogenous Ate1 pre-mRNA, blocking the competing base pairings by LNA/DNA mixmers complementary to R3 leads to the loss of MXE splicing, while the disruption of R2R5 interaction changes the ratio of MXE. That is, Ate1 splicing is controlled by two independent, dynamically interacting, and functionally distinct RNA structure modules. Exon 7a becomes more included in response to RNA Pol II slowdown, however it fails to do so when the ultra-long-range R2R5 interaction is disrupted, indicating that exon 7a/7b ratio depends on co-transcriptional RNA folding. In sum, these results demonstrate that splicing is coordinated both in time and in space over very long distances, and that the interaction of these components is mediated by RNA structure.
C1 [Kalinina, Marina; Kalmykova, Svetlana; Ivanov, Timofei; Dontsova, Olga; Pervouchine, Dmitri D.] Skolkovo Inst Sci & Technol, Ctr Life Sci, Moscow 143026, Russia.
   [Skvortsov, Dmitry; Dontsova, Olga] Moscow MV Lomonosov State Univ, Fac Chem, Moscow 119991, Russia.
C3 Skolkovo Institute of Science & Technology; Lomonosov Moscow State
   University
RP Pervouchine, DD (corresponding author), Skolkovo Inst Sci & Technol, Ctr Life Sci, Moscow 143026, Russia.
EM d.pervouchine@skoltech.ru
RI Skvortsov, Dmitry/D-3738-2015; Pervouchine, Dmitri/AAU-5399-2021;
   Pervouchine, Dmitri/H-5252-2015
OI Pervouchine, Dmitri/0000-0003-0543-9760; Kalinina,
   Marina/0000-0001-6325-3054
FU Russian Foundation for Basic Research [18-29-13020-MK, 19-34-90174];
   Skolkovo Institute of Science and Technology Research Grant
   [RF-0000000653]; CREI Center of Life Sciences; Skolkovo Institute of
   Science and Technology
FX M.K. and D.S. were supported by Russian Foundation for Basic Research
   [18-29-13020-MK]; T.I. was supported by Russian Foundation for Basic
   Research [19-34-90174]; S.K.was supported by Russian Foundation for
   Basic Research [18-29-13020-MK] and Skolkovo Institute of Science and
   Technology Research Grant [RF-0000000653]. Funding for open access
   charge: CREI Center of Life Sciences, Skolkovo Institute of Science and
   Technology.
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NR 91
TC 21
Z9 21
U1 0
U2 8
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0305-1048
EI 1362-4962
J9 NUCLEIC ACIDS RES
JI Nucleic Acids Res.
PD JAN 11
PY 2021
VL 49
IS 1
BP 479
EP 490
DI 10.1093/nar/gkaa1208
PG 12
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA PW3CZ
UT WOS:000610552100039
PM 33330934
OA gold, Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Gong, QM
   Stump, MR
   Dunn, AR
   Deng, V
   Zhou, ZF
AF Gong, Qiuming
   Stump, Matthew R.
   Dunn, A. Russell
   Deng, Vivianne
   Zhou, Zhengfeng
TI Alternative Splicing and Polyadenylation Contribute to the Generation of
   hERG1 C-terminal Isoforms
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID MESSENGER-RNA POLYADENYLATION; LONG-QT SYNDROME; K+ CHANNEL; I-KR;
   CARDIAC-ARRHYTHMIA; POTASSIUM CHANNEL; TUMOR-CELLS; GENES; EXPRESSION;
   SITE
AB The human ether-a-go-go-related gene 1 (hERG1) encodes the pore-forming subunit of the rapidly activating delayed rectifier potassium channel. Several hERG1 isoforms with different N- and C-terminal ends have been identified. The hERG1a, hERG1b, and hERG1-3.1 isoforms contain the full-length C terminus, whereas the hERG1(USO) isoforms, hERG1a(USO) and hERG1b(USO), lack most of the C-terminal domain and contain a unique C-terminal end. The mechanisms underlying the generation of hERG1(USO) isoforms are not understood. We show that hERG1 isoforms with different C-terminal ends are generated by alternative splicing and polyadenylation of hERG1 pre-mRNA. We identified an intrinsically weak, noncanonical poly(A) signal, AGUAAA, within intron 9 of hERG1 that modulates the expression of hERG1a and hERG1a(USO). Replacing AGUAAA with the strong, canonical poly(A) signal AAUAAA resulted in the predominant production of hERG1a(USO) and a marked decrease in hERG1 current. In contrast, eliminating the intron 9 poly(A) signal or increasing the strength of 5' splice site led to the predominant production of hERG1a and a significant increase inhERG1 current. We found significant variation in the relative abundance of hERG1 C-terminal isoforms in different human tissues. Taken together, these findings suggest that post-transcriptional regulation of hERG1 pre-mRNA may represent a novel mechanism to modulate the expression and function of hERG1 channels.
C1 [Gong, Qiuming; Stump, Matthew R.; Dunn, A. Russell; Deng, Vivianne; Zhou, Zhengfeng] Oregon Hlth & Sci Univ, Dept Med, Div Cardiovasc Med, Portland, OR 97239 USA.
C3 Oregon Health & Science University
RP Zhou, ZF (corresponding author), 3181 SW Sam Jackson Pk Rd, Portland, OR 97239 USA.
EM zhouzh@ohsu.edu
FU National Institutes of Health [HL-68854]; Collins Trust; American Heart
   Association
FX This work was supported, in whole or in part, by National Institutes of
   Health Grant HL-68854 (to Z. Z.) and a Collins Trust Medical
   grant.Supported by an American Heart Association postdoctoral
   fellowship.
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NR 36
TC 18
Z9 19
U1 0
U2 2
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD OCT 15
PY 2010
VL 285
IS 42
BP 32233
EP 32241
DI 10.1074/jbc.M109.095695
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 660XZ
UT WOS:000282683000036
PM 20693282
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Chambers, S
   Rusanov, A
   Spotnitz, HM
   Silver, ES
   Liberman, L
AF Chambers, Sarah
   Rusanov, Alex
   Spotnitz, Henry M.
   Silver, Eric S.
   Liberman, Leonardo
TI Durability of repaired pacemaker leads in the pediatric population
SO JOURNAL OF INTERVENTIONAL CARDIAC ELECTROPHYSIOLOGY
LA English
DT Article
DE Pacemaker; Device; Repair; Lead
ID CONGENITAL HEART-DISEASE; EXPERIENCE; EXTRACTION; CHILDREN; PATIENT
AB Lead failure is a common complication of pacemaker placement in the pediatric population and is often due to insulation breaks or lead fracture. Usually these leads are replaced with new leads. This study describes the surgical technique of lead repair and investigates the longevity of such repairs.
   Retrospective review of lead repairs performed in the pediatric population (< 21 years old) between December 1995 and December 2008. Operative records, pre-operative interrogation data, and most recent follow-up data were reviewed.
   Twenty-one lead repairs were performed on 17 patients. Sixteen were ventricular leads and five were atrial leads. There were 14 insulation defect repairs, six new lead tip splicings, and one lead extender splicing. The repaired leads were followed for a mean time of 3.6 +/- 3.0 years (range, 0.3-10.6 years). The freedom from repaired lead failure by Kaplan-Meier survival analysis was 89% at 5 years and 22% at 10 years. One atrial lead and two ventricular leads have been replaced since the repairs. One atrial lead has had a repeat insulation break repair since the initial repair. One of the five atrial leads had an elevated threshold at follow-up. Five of 16 ventricular leads had elevated thresholds at follow-up. All leads had normal impedance at follow-up.
   The option of pacemaker lead repair, if surgically feasible, offers an alternative to lead replacement in the pediatric population and may extend the longevity of pacemaker leads in this population.
C1 [Chambers, Sarah] Childrens Hosp Montefiore, Dept Pediat, Div Pediat Cardiol, Bronx, NY 10467 USA.
   [Rusanov, Alex] Columbia Univ Coll Phys & Surg, Dept Anesthesia, New York, NY 10032 USA.
   [Spotnitz, Henry M.] Columbia Univ Coll Phys & Surg, Dept Surg, New York, NY 10032 USA.
   [Silver, Eric S.; Liberman, Leonardo] Columbia Univ Coll Phys & Surg, Dept Pediat, Div Pediat Cardiol, New York, NY 10032 USA.
C3 Montefiore Medical Center; Albert Einstein College of Medicine;
   Childrens Hospital at Montefiore; Columbia University; Columbia
   University; Columbia University
RP Chambers, S (corresponding author), Childrens Hosp Montefiore, Dept Pediat, Div Pediat Cardiol, 3415 Bainbridge Ave, Bronx, NY 10467 USA.
EM sarahann13@gmail.com
RI Quinn, Alex/AES-2123-2022; Liberman, Leonardo/JGD-5670-2023
OI , Alex/0000-0003-2239-981X
FU Department of Pediatrics; T32 training grant
FX This study is supported in part by an Internal Research Grant from the
   Department of Pediatrics and a T32 training grant to the Department of
   Anesthesiology, Columbia University College of Physicians and Surgeons.
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NR 15
TC 1
Z9 1
U1 0
U2 4
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1383-875X
J9 J INTERV CARD ELECTR
JI J. Interv. Card. Electrophysiol.
PD APR
PY 2011
VL 30
IS 3
BP 267
EP 271
DI 10.1007/s10840-011-9543-7
PG 5
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 747EE
UT WOS:000289302300009
PM 21327489
DA 2025-04-10
ER

PT J
AU Singh, P
   Leddy, JJ
   Chatzis, GJ
   Salih, M
   Tuana, BS
AF Singh, P
   Leddy, JJ
   Chatzis, GJ
   Salih, M
   Tuana, BS
TI Alternative splicing generates a CaM kinase IIß isoform in myocardium
   that targets the sarcoplasmic reticulum through a putative αKAP and
   regulates GAPDH
SO MOLECULAR AND CELLULAR BIOCHEMISTRY
LA English
DT Article
DE CaM kinase II; GAPDH; alpha-KAP; myocardium; NADH
ID SKELETAL-MUSCLE; GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; ANCHORING
   PROTEIN; GLYCOLYTIC-ENZYMES; CALCIUM-RELEASE; CALMODULIN; EXPRESSION;
   VESICLES; COMPLEX; BRAIN
AB We report the isolation of a full length cDNA from cardiac muscle that encodes a similar to 73 kDa calcium/calmodulin (CaM) dependent kinase II beta isoform ( CaMKII beta(C)) that was generated by alternative splicing of the CaMKII beta gene. Antipeptide antibodies raised to specific regions of the kinase identified a 73 kDa kinase polypeptide in cardiac SR. Anti-alpha kinase anchoring protein (alpha KAP) antibodies identified a 25 kDa polypeptide in cardiac SR and RT-PCR followed by sequence analysis confirmed the presence of a full length alpha KAP encoding transcript in myocardium. Protein interaction assays revealed that the 73 kDa CaMKII beta(C) binds GAPDH to modulate the production of NADH in a Ca2+/CaM dependent reaction. The presence of a CaMKII beta isoform that can target the SR presumably via its membrane anchor alpha KAP defines a previously unrecognized Ca2+/CaM regulatory system in myocardium.
C1 Univ Ottawa, Dept Cellular & Mol Med, Ottawa, ON K1H 8M5, Canada.
C3 University of Ottawa
RP Univ Ottawa, Dept Cellular & Mol Med, 451 Smyth Rd, Ottawa, ON K1H 8M5, Canada.
EM btuana@uottawa.ca
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NR 21
TC 9
Z9 12
U1 0
U2 4
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0300-8177
EI 1573-4919
J9 MOL CELL BIOCHEM
JI Mol. Cell. Biochem.
PD FEB
PY 2005
VL 270
IS 1-2
BP 215
EP 221
DI 10.1007/s11010-005-5234-y
PG 7
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 907RQ
UT WOS:000227736000023
PM 15792370
DA 2025-04-10
ER

PT J
AU Lee, SY
   Giladi, M
   Bohbot, H
   Hiller, R
   Chung, KY
   Khananshvili, D
AF Lee, Su Youn
   Giladi, Moshe
   Bohbot, Hilla
   Hiller, Reuben
   Chung, Ka Young
   Khananshvili, Daniel
TI Structure-dynamic basis of splicing-dependent regulation in
   tissue-specific variants of the sodium-calcium exchanger
SO FASEB JOURNAL
LA English
DT Article
DE alternative splicing; HDX-MS; intrinsically disordered proteins;
   conformational dynamics
ID CA2+ BINDING DOMAINS; NA+/CA2+ EXCHANGER; NA+-CA2+ EXCHANGER; DISORDERED
   REGIONS; CRYSTAL-STRUCTURE; NCX; DETERMINANTS; FEATURES; ENERGY; SENSOR
AB Tissue-specific splice variants of Na+/Ca2+ exchangers contain 2 Ca2+-binding regulatory domains (CBDs), CBD1 and CBD2. Ca2+ interaction with CBD1 activates sodium-calcium exchangers (NCXs), and Ca2+ binding to CBD2 alleviates Na+-dependent inactivation. A combination of mutually exclusive (A, B) and cassette (C-F) exons in CBD2 raises functionally diverse splice variants through unknown mechanisms. Here, the effect of exons on CBDs backbone dynamics were investigated in the 2-domain tandem (CBD12) of the brain, kidney, and cardiac splice variants by using hydrogen-deuterium exchange mass spectrometry and stopped-flow techniques. Mutually exclusive exons stabilize interdomain interactions in the apoprotein, which primarily predefines the extent of responses to Ca2+ binding. Deuterium uptake levels were up to 20% lower in the cardiac vs. the brain CBD12, reveling that elongation of the CBD2 FG loop by cassette exons rigidifies the interdomain Ca2+ salt bridge at the 2-domain interface, which secondarily modulates the Ca2+-bound states. In matching splice variants, the extent of Ca2+-induced rigidification correlates with decreased (up to 10-fold) Ca2+ off rates, where the cardiac CBD12 exhibits the slowest Ca2+ off rates. Collectively, structurally disordered/dynamic segments at mutually exclusive and cassette exons have local and distant effects on the folded structures nearby the Ca2+ binding sites, which may serve as a structure-dynamic basis for splicing-dependent regulation of NCX.
C1 [Lee, Su Youn; Chung, Ka Young] Sungkyunkwan Univ, Sch Pharm, Suwon 440746, South Korea.
   [Giladi, Moshe; Bohbot, Hilla; Hiller, Reuben; Khananshvili, Daniel] Tel Aviv Univ, Dept Physiol & Pharmacol, IL-69978 Tel Aviv, Israel.
C3 Sungkyunkwan University (SKKU); Tel Aviv University
RP Chung, KY (corresponding author), Sungkyunkwan Univ, Sch Pharm, Suwon 440746, South Korea.; Khananshvili, D (corresponding author), Tel Aviv Univ, Dept Physiol & Pharmacol, IL-69978 Tel Aviv, Israel.
EM kychung2@skku.edu; dhanan@post.tau.ac.il
RI Chung, Ka/AAO-7984-2020; Giladi, Moshe/LMO-8378-2024
OI Chung, Ka Young/0000-0001-9038-9571; Giladi, Moshe/0000-0002-8589-6920;
   Khananshvili, Daniel/0000-0002-4202-9966
FU USA-Israel Binational Foundation Research Grant [2009-334]; Israel
   Science Foundation [825/14]; National Research Foundation of Korea
   [NRF-2012R1A1A1039220, NRF-2012R1A5A2A28671860,
   NRF-2015R1A1A1A05027473]; Fields Estate foundation
FX This work was supported by USA-Israel Binational Foundation Research
   Grant 2009-334; Israel Science Foundation Grant 825/14 (to D.K.); and
   National Research Foundation of Korea Grants NRF-2012R1A1A1039220,
   NRF-2012R1A5A2A28671860, and NRF-2015R1A1A1A05027473 (to K-Y.C.). The
   support from the Fields Estate foundation to D.K. is highly appreciated.
   The authors declare no conflicts of interest.
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NR 43
TC 17
Z9 18
U1 0
U2 7
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
EI 1530-6860
J9 FASEB J
JI Faseb J.
PD MAR
PY 2016
VL 30
IS 3
BP 1356
EP 1366
DI 10.1096/fj.15-282251
PG 11
WC Biochemistry & Molecular Biology; Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
   Topics; Cell Biology
GA DE1LF
UT WOS:000370387800030
PM 26644350
DA 2025-04-10
ER

PT J
AU Sharina, IG
   Martin, E
AF Sharina, Iraida G.
   Martin, Emil
TI The Role of Reactive Oxygen and Nitrogen Species in the Expression and
   Splicing of Nitric Oxide Receptor
SO ANTIOXIDANTS & REDOX SIGNALING
LA English
DT Review
DE nitric oxide; soluble guanylyl cyclase; splicing; oxidative stress
ID SOLUBLE GUANYLYL CYCLASE; VASCULAR SMOOTH-MUSCLE; SPONTANEOUSLY
   HYPERTENSIVE-RATS; HEAT-SHOCK-PROTEIN; PULMONARY ARTERIAL RELAXATION;
   HEME-INDEPENDENT ACTIVATION; OXIDATIVE STRESS; HYDROGEN-PEROXIDE;
   DOWN-REGULATION; MESSENGER-RNA
AB Significance: Nitric oxide (NO)-dependent signaling is critical to many cellular functions and physiological processes. Soluble guanylyl cyclase (sGC) acts as an NO receptor and mediates the majority of NO functions. The signaling between NO and sGC is strongly altered by reactive oxygen and nitrogen species.
   Recent Advances: Besides NO scavenging, sGC is affected by oxidation/loss of sGC heme, oxidation, or nitrosation of cysteine residues and phosphorylation. Apo-sGC or sGC containing oxidized heme is targeted for degradation. sGC transcription and the stability of sGC mRNA are also affected by oxidative stress.
   Critical Issues: Studies cited in this review suggest the existence of compensatory processes that adapt cellular processes to diminished sGC function under conditions of short-term or moderate oxidative stress. Alternative splicing of sGC transcripts is discussed as a mechanism with the potential to both enhance and reduce sGC function. The expression of al isoform B, a functional and stable splice variant of human al sGC subunit, is proposed as one of such compensatory mechanisms. The expression of dysfunctional splice isoforms is discussed as a contributor to decreased sGC function in vascular disease.
   Future Directions: Targeting the process of sGC splicing may be an important approach to maintain the composition of sGC transcripts that are expressed in healthy tissues under normal conditions. Emerging new strategies that allow for targeted manipulations of RNA splicing offer opportunities to use this approach as a preventive measure and to control the composition of sGC splice isoforms. Rational management of expressed sGC splice forms may be a valuable complementary treatment strategy for existing sGC-directed therapies.
C1 [Sharina, Iraida G.; Martin, Emil] Univ Texas Hlth Sci Ctr Houston, Sch Med, Dept Internal Med, Div Cardiol, 1941 East Rd, Houston, TX 77054 USA.
   [Martin, Emil] Nazarbayev Univ, Sch Sci & Technol, Kabanbay Batyr 53, Astana 010000, Kazakhstan.
C3 University of Texas System; University of Texas Health Science Center
   Houston; Nazarbayev University
RP Sharina, IG (corresponding author), Univ Texas Hlth Sci Ctr Houston, Sch Med, Dept Internal Med, Div Cardiol, 1941 East Rd, Houston, TX 77054 USA.; Martin, E (corresponding author), Nazarbayev Univ, Sch Sci & Technol, Kabanbay Batyr 53, Astana 010000, Kazakhstan.
EM iraida.g.sharina@uth.tmc.edu; emil.martin@nu.edu.kz
RI Sharina, Iraida/C-9888-2014; Martin, Emil/HLX-8442-2023
OI Martin, Emil/0000-0002-9094-4165
FU University of Texas; American Heart Association [15GRNT25700101];
   American Heart Association (AHA) [15GRNT25700101] Funding Source:
   American Heart Association (AHA)
FX This work was supported by the University of Texas Bridge grant (I.G.S.)
   and the American Heart Association (grant 15GRNT25700101, E.S.M.). The
   authors would like to thank Filip Jelen, Elena Bogatenkova, Vladislav
   Sharin, Eva Golunski, Susan Laing, Anthony Estrera, Gilbert J. Cote, Wen
   Zhu, Anthony Thomas, Alexander Kots, Kalpana Mujoo, and Ferid Murad for
   their technical and intellectual contributions to the studies related to
   sGC splicing.
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NR 140
TC 17
Z9 18
U1 2
U2 24
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1523-0864
EI 1557-7716
J9 ANTIOXID REDOX SIGN
JI Antioxid. Redox Signal.
PD JAN 20
PY 2017
VL 26
IS 3
BP 122
EP 136
DI 10.1089/ars.2016.6687
PG 15
WC Biochemistry & Molecular Biology; Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Endocrinology & Metabolism
GA EH5OU
UT WOS:000391823400002
PM 26972233
OA Green Published
DA 2025-04-10
ER

PT J
AU Zimmer, T
   Bollensdorff, C
   Haufe, V
   Birch-Hirschfeld, E
   Benndorf, K
AF Zimmer, T
   Bollensdorff, C
   Haufe, V
   Birch-Hirschfeld, E
   Benndorf, K
TI Mouse heart Na<SUP>+</SUP> channels:: primary structure and function of
   two isoforms and alternatively spliced variants
SO AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
LA English
DT Article
DE cardiac electrophysiology; skeletal muscle Na+ channels
ID DEPENDENT SODIUM-CHANNEL; HUMAN SKELETAL-MUSCLE; MESSENGER-RNAS;
   MOLECULAR-CLONING; BETA(1) SUBUNIT; XENOPUS OOCYTES; PATCH-CLAMP;
   RAT-BRAIN; EXPRESSION; CELLS
AB We isolated two full-length cDNA clones from the adult murine heart that encode two different voltage-gated Na+ channels: mH1 and mH2. Sequence comparisons indicated that mH1 is highly homologous to rat SCN5A, whereas mH2 is highly homologous to SCN4A, expressed in rat skeletal muscle. Electrophysiological properties of mH1 channels strongly resembled the tetrodotoxin (TTX)-resistant Na+ current of mouse ventricular cells, whereas mH2 channels activated at more positive potentials and were highly sensitive to TTX [50% inhibitory constant (IC50) = 11 nM]. We found that mH2 is not expressed in cardiac cells of neonatal mice, but appears to be upregulated during the development. Besides these Na+ channel isoforms, we also detected two alternatively spliced mH1 variants that were characterized by deletions within the sequence coding for the intracellular loop between domains II and III. One of the shortened channels, mH1-2, developed Na+ currents indistinguishable from those of mH1. The other splice variant (mH1-3) did not form functional channels. Quantitative reverse transcriptase-polymerase chain reaction indicated that RNA preparations of the adult mouse heart contain 54% mH1, 25% mH1-2, 16% mH2, and 5% mH1-3. Conclusively, mH1 generates the main portion of the mouse cardiac TTX-resistant Na+ current and mH2 is a candidate for TTX-sensitive currents previously described in adult cardiomyocytes. Furthermore, the presence of mH1-2 and mH1-3 transcripts indicates that alternative splicing plays a role in the regulation of functional Na+ channels in cardiomyocytes.
C1 Univ Jena, Inst Physiol 2, D-07740 Jena, Germany.
   Univ Jena, Inst Virol, D-07745 Jena, Germany.
C3 Friedrich Schiller University of Jena; Friedrich Schiller University of
   Jena
RP Zimmer, T (corresponding author), Univ Jena, Inst Physiol 2, Teichgraben 8, D-07740 Jena, Germany.
RI Bollensdorff, Christian/HRE-3940-2023
OI Benndorf, Klaus/0000-0002-0707-4083; Bollensdorff,
   Christian/0000-0002-6333-4791
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NR 49
TC 60
Z9 71
U1 0
U2 4
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6135
J9 AM J PHYSIOL-HEART C
JI Am. J. Physiol.-Heart Circul. Physiol.
PD MAR
PY 2002
VL 282
IS 3
BP H1007
EP H1017
DI 10.1152/ajpheart.00644.2001
PG 11
WC Cardiac & Cardiovascular Systems; Physiology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Physiology
GA 520JT
UT WOS:000173779300029
PM 11834499
DA 2025-04-10
ER

PT J
AU Astro, V
   Ramirez-Calderon, G
   Pennucci, R
   Caroli, J
   Saera-Vila, A
   Cardona-Londoño, K
   Forastieri, C
   Fiacco, E
   Maksoud, F
   Alowaysi, M
   Sogne, E
   Falqui, A
   Gonzàlez, F
   Montserrat, N
   Battaglioli, E
   Mattevi, A
   Adamo, A
AF Astro, Veronica
   Ramirez-Calderon, Gustavo
   Pennucci, Roberta
   Caroli, Jonatan
   Saera-Vila, Alfonso
   Cardona-Londono, Kelly
   Forastieri, Chiara
   Fiacco, Elisabetta
   Maksoud, Fatima
   Alowaysi, Maryam
   Sogne, Elisa
   Falqui, Andrea
   Gonzalez, Federico
   Montserrat, Nuria
   Battaglioli, Elena
   Mattevi, Andrea
   Adamo, Antonio
TI Fine-tuned KDM1A alternative splicing regulates human cardiomyogenesis
   through an enzymatic-independent mechanism
SO ISCIENCE
LA English
DT Article
ID BHLH TRANSCRIPTION FACTOR; EMBRYONIC STEM-CELLS; SWIRM DOMAIN; LSD1;
   HEART; DNA; PHOSPHORYLATION; DIFFERENTIATION; RECOGNITION; CHROMATIN
AB The histone demethylase KDM1A is a multi- faceted regulator of vital developmental processes, including mesodermal and cardiac tube formation during gastrulation. However, it is unknown whether the fine-tuning of KDM1A splicing isoforms, already shown to regulate neuronal maturation, is crucial for the specification and maintenance of cell identity during cardiogenesis. Here, we discovered a temporal modulation of ubKDM1A and KDM1A+2a during human and mice fetal cardiac development and evaluated their impact on the regulation of cardiac differentiation. We revealed a severely impaired cardiac differentiation in KDM1A(-/-) hESCs that can be rescued by re-expressing ubKDM1A or catalytically impaired ubKDM1A-K661A, but not by KDM1A+2a or KDM1A+2a-K661A. Conversely, KDM1A+2a(-/-) hESCs give rise to functional cardiac cells, displaying increased beating amplitude and frequency and enhanced expression of critical cardiogenic markers. Our findings prove the existence of a divergent scaffolding role of KDM1A splice variants, independent of their enzymatic activity, during hESC differentiation into cardiac cells.
C1 [Astro, Veronica; Ramirez-Calderon, Gustavo; Pennucci, Roberta; Cardona-Londono, Kelly; Fiacco, Elisabetta; Maksoud, Fatima; Alowaysi, Maryam; Sogne, Elisa; Falqui, Andrea; Adamo, Antonio] King Abdullah Univ Sci & Technol, Biol & Environm Sci & Engn Div, Thuwal 239556900, Saudi Arabia.
   [Caroli, Jonatan; Mattevi, Andrea] Univ Pavia, Dept Biol & Biotechnol, I-27100 Pavia, Italy.
   [Saera-Vila, Alfonso] Sequentia Biotech SL, Barcelona 08005, Spain.
   [Forastieri, Chiara; Battaglioli, Elena] Univ Milan, Dept Med Biotechnol & Translat Med, Via Fratelli Cervi 93, I-20090 Milan, Italy.
   [Gonzalez, Federico; Montserrat, Nuria] Barcelona Inst Sci & Technol BIST, Inst Bioengn Catalonia IBEC, Pluripotency Organ Regenerat, Barcelona, Spain.
   [Montserrat, Nuria] Ctr Invest Biomed Red Bioingn Biomat & Nanomed, Barcelona, Spain.
   [Montserrat, Nuria] Inst Catalana Recerca & Estudis Avancats ICREA, Barcelona, Spain.
C3 King Abdullah University of Science & Technology; University of Pavia;
   University of Milan; University of Barcelona; Barcelona Institute of
   Science & Technology; Institut de Bioenginyeria de Catalunya; CIBER -
   Centro de Investigacion Biomedica en Red; CIBERBBN; ICREA
RP Adamo, A (corresponding author), King Abdullah Univ Sci & Technol, Biol & Environm Sci & Engn Div, Thuwal 239556900, Saudi Arabia.
EM antonio.adamo@kaust.edu.sa
RI Falqui, Andrea/ABC-2075-2020; mattevi, andrea/K-5464-2012; Saera-Vila,
   Alfonso/O-7438-2017; Adamo, Antonio/IVV-7879-2023; Sala,
   Carlo/A-2493-2009
OI Gonzalez Grassi, Federico/0000-0002-7147-2246; Adamo,
   Antonio/0000-0003-1080-3547; Astro, Veronica/0000-0001-7852-7046;
   Caroli, Jonatan/0000-0001-8954-8045; Falqui, Andrea/0000-0002-1476-7742;
   Sogne, Elisa/0000-0003-2097-4358; Forastieri, Chiara/0000-0001-7454-3807
FU Competitive Research Fund [CRG URF/1/4012];  [BAS 1077-01-01]
FX We thank Francesco Rusconi for performing the collection of the
   embryonal heart tissues. We thank Carol Buitrago-Lopez for her support
   with graphical abstract preparation. We thank the genomic unit of the
   KAUST BioCoreLab for technical support with RNA-Seq libraries
   preparation. We thank the KAUST imag- ing and characterization facility
   and ARCL animal facility for support with image acquisition and teratoma
   formation assays. We thank Sudharshan Elangovan for the generation of
   the pTP6-Flag-ubKDM1A, pTP6- Flag-KDM1A+2a, pTP6-Flag-ubKDM1A-K661A, and
   pTP6-Flag-KDM1A+2a-K661A constructs. The two KDM1A inhibitors GSK-090
   and MC2652 tranylcypromine were a kind gift of Prof. Antonello Mai,
   Universi- ty""La Sapienza, Rome"" This work was funded by baseline
   funding (BAS 1077-01-01) to A.A. and by Competitive Research Fund (CRG
   URF/1/4012) to A.A., A.M., and E.B.
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NR 83
TC 11
Z9 11
U1 0
U2 4
PU CELL PRESS
PI CAMBRIDGE
PA 50 HAMPSHIRE ST, FLOOR 5, CAMBRIDGE, MA 02139 USA
EI 2589-0042
J9 ISCIENCE
JI iScience
PD JUL 15
PY 2022
VL 25
IS 7
AR 104665
DI 10.1016/j.isci.2022.104665
EA JUL 2022
PG 33
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA 3A9SY
UT WOS:000827593200005
PM 35856020
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Zhang, YH
   Resneck, WG
   Lee, PC
   Randall, WR
   Bloch, RJ
   Ursitti, JA
AF Zhang, Yinghua
   Resneck, Wendy G.
   Lee, Pervis C.
   Randall, William R.
   Bloch, Robert J.
   Ursitti, Jeanine A.
TI Characterization and expression of a heart-selective alternatively
   spliced variant of αII-spectrin, cardi plus , during development in the
   rat
SO JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
LA English
DT Article
DE Spectrin; Fodrin; Cardiac muscle; Heart; alpha II Sigma 9-spectrin;
   alpha II Sigma 10-spectrin
ID SKELETAL-MUSCLE FIBERS; BETA-SPECTRIN; CYTOSKELETON; DOMAIN; LINKS;
   MYOFIBRILLOGENESIS; IDENTIFICATION; LOCALIZATION; LYMPHOCYTES;
   DYSTROPHIN
AB Spectrin is a large, flexible protein that stabilizes membranes and organizes proteins and lipids into microdomains in intracellular organelles and at the plasma membrane. Alternative splicing occurs in spectrins, but it is not yet clear if these small variations in structure alter spectrin's functions. Three alternative splice sites have been identified previously for all-spectrin. Here we describe a new alternative splice site, a 21-amino acid sequence in the 21st spectrin repeat that is only expressed in significant amounts in cardiac muscle (GenBank GQ502182). The insert, which we term alpha II-cardi+, results in an insertion within the high affinity nucleation site for binding of alpha-spectrins to beta-spectrins. To assess the developmental regulation of the alpha II-cardi+ isoform, we used qRT-PCR and quantitative immunoblotting methods to measure the levels of this form and the alpha II-cardi- form in the cardiac muscles of rats, from embryonic day 16 (E16) through adulthood. The alpha II-cardi+ isoform constituted similar to 26% of the total all-spectrin in E16 hearts but decreased to similar to 6% of the total after 3 weeks of age. We used long-range RT-PCR and Southern blot hybridization to examine possible linkage of the alpha II-cardi+ alternatively spliced sequence with alternatively spliced sequences of all-spectrin that had been previously reported. We identified two new isoforms of alpha II-spectrin containing the cardi+ insert. These were named alpha II Sigma 9 and alpha II Sigma 10 in accordance with the spectrin naming conventions. In vitro studies of recombinant all-spectrin polypeptides representing the two splice variants of alpha II-spectrin, alpha II-cardi+ and alpha II-cardi-, revealed that the alpha II-cardi+ subunit has lower affinity for the complementary site in repeats 1-4 of beta II-spectrin, with a K-D value of similar to 1 nM, as measured by surface plasmon resonance (SPR). In addition, the alpha II-cardi+ form showed 1.8-fold lower levels of binding to its site on beta II-spectrin than the alpha II-cardi- form, both by SPR and blot overlay. This suggests that the 21-amino acid insert prevented some of the alpha II-cardi+ form from interacting with beta II-spectrin. Fusion proteins expressing the alpha II-cardi+ sequence within the two terminal spectrin repeats of alpha II-spectrin were insoluble in solution and aggregated in neonatal myocytes, consistent with the possibility that this insert removes a significant portion of the protein from the population that can bind beta subunits. Neonatal rat cardiomyocytes infected with adenovirus encoding GFP-fusion proteins of repeats 18-21 of alpha II-spectrin with the cardi+ insert formed many new processes. These processes were only rarely seen in myocytes expressing the fusion protein lacking the insert or in controls expressing only GFP. Our results suggest that the embryonic mammalian heart expresses a significant amount of alpha II-spectrin with a reduced avidity for beta-spectrin and the ability to promote myocyte growth. (C) 2010 Elsevier Ltd. All rights reserved.
C1 [Zhang, Yinghua; Resneck, Wendy G.; Lee, Pervis C.; Bloch, Robert J.; Ursitti, Jeanine A.] Univ Maryland, Sch Med, Dept Physiol, Baltimore, MD 21201 USA.
   [Randall, William R.] Univ Maryland, Sch Med, Dept Pharmacol & Expt Therapeut, Baltimore, MD 21201 USA.
   [Ursitti, Jeanine A.] Univ Maryland, Inst Biotechnol, Baltimore, MD 21201 USA.
C3 University System of Maryland; University of Maryland Baltimore;
   University System of Maryland; University of Maryland Baltimore;
   University System of Maryland; University of Maryland Baltimore
RP Ursitti, JA (corresponding author), Univ Maryland, Sch Med, Dept Physiol, 655 W Baltimore St, Baltimore, MD 21201 USA.
EM jursitti@umaryland.edu
RI Zhang, Yinghua/E-7313-2016
OI Bloch, Robert/0000-0002-4933-3469
FU NIH [RO1 HL075106, PO1 HL HL70709, T32 HL 072751]; American Heart
   Association, Mid-Atlantic Affiliate
FX We thank Shirley Gaa and Aristide Chikando for sharing their
   preparations of neonatal cardiomyocytes, Dawn Catino for her help in
   surface plasmon resonance analysis, Diana Ford-Speelman for sharing her
   preparation of flexor digitorum brevis muscle fibers and John Strong for
   his help in confocal microscopy. Our research was supported by grants
   from NIH: RO1 HL075106 to R.J.B., PO1 HL HL70709 to R.J.B. (T. Rogers,
   P.I.) and T32 HL 072751 to Y.Z. (T. Pallone, P.I.) and a grant from the
   American Heart Association, Mid-Atlantic Affiliate, to J.A.U.
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NR 41
TC 14
Z9 15
U1 1
U2 5
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0022-2828
EI 1095-8584
J9 J MOL CELL CARDIOL
JI J. Mol. Cell. Cardiol.
PD JUN
PY 2010
VL 48
IS 6
BP 1050
EP 1059
DI 10.1016/j.yjmcc.2010.01.001
PG 10
WC Cardiac & Cardiovascular Systems; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Cell Biology
GA 599WM
UT WOS:000277944700007
PM 20114050
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Yu, Q
   Wu, TT
   Xu, WH
   Wei, JY
   Zhao, AQ
   Wang, MM
   Li, MY
   Chi, GF
AF Yu, Qi
   Wu, Tongtong
   Xu, Wenhong
   Wei, Junyuan
   Zhao, Anqi
   Wang, Miaomiao
   Li, Meiying
   Chi, Guangfan
TI PTBP1 as a potential regulator of disease
SO MOLECULAR AND CELLULAR BIOCHEMISTRY
LA English
DT Article
DE Polypyrimidine tract-binding protein 1 (PTBP1); Nervous system diseases;
   Cardiovascular diseases; Cancer; Metabolic disease; Alternative splicing
ID TRACT-BINDING-PROTEIN; PULMONARY ARTERIAL-HYPERTENSION; GENOME-WIDE
   ANALYSIS; COLORECTAL-CANCER; RNA INTERACTIONS; EXPRESSION; MICRORNA-124;
   PROLIFERATION; METASTASIS; MECHANISMS
AB Polypyrimidine tract-binding protein 1 (PTBP1) is a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family, which plays a key role in alternative splicing of precursor mRNA and RNA metabolism. PTBP1 is universally expressed in various tissues and binds to multiple downstream transcripts to interfere with physiological and pathological processes such as the tumor growth, body metabolism, cardiovascular homeostasis, and central nervous system damage, showing great prospects in many fields. The function of PTBP1 involves the regulation and interaction of various upstream molecules, including circular RNAs (circRNAs), microRNAs (miRNAs) and long non-coding RNAs (lncRNAs). These regulatory systems are inseparable from the development and treatment of diseases. Here, we review the latest knowledge regarding the structure and molecular functions of PTBP1 and summarize its functions and mechanisms of PTBP1 in various diseases, including controversial studies. Furthermore, we recommend future studies on PTBP1 and discuss the prospects of targeting PTBP1 in new clinical therapeutic approaches.
C1 [Yu, Qi; Wu, Tongtong; Xu, Wenhong; Wei, Junyuan; Zhao, Anqi; Wang, Miaomiao; Li, Meiying; Chi, Guangfan] Jilin Univ, Coll Basic Med Sci, Key Lab Pathobiol, Minist Educ, Changchun 130021, Jilin, Peoples R China.
C3 Jilin University
RP Li, MY; Chi, GF (corresponding author), Jilin Univ, Coll Basic Med Sci, Key Lab Pathobiol, Minist Educ, Changchun 130021, Jilin, Peoples R China.
EM limeiying@jlu.edu.cn; guangfan130@jlu.edu.cn
FU National Natural Science Foundation of China
FX We would like to thank Editage (www.editage.cn) for English language
   editing.
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NR 165
TC 9
Z9 10
U1 6
U2 20
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0300-8177
EI 1573-4919
J9 MOL CELL BIOCHEM
JI Mol. Cell. Biochem.
PD NOV
PY 2024
VL 479
IS 11
BP 2875
EP 2894
DI 10.1007/s11010-023-04905-x
EA DEC 2023
PG 20
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA I8E2B
UT WOS:001127200400001
PM 38129625
DA 2025-04-10
ER

PT J
AU Denz, CR
   Narshi, A
   Zajdel, RW
   Dube, DK
AF Denz, CR
   Narshi, A
   Zajdel, RW
   Dube, DK
TI Expression of a novel cardiac-specific tropomyosin isoform in humans
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE tropomyosin; alternative splicing; Mexican axolotl; GFP fusion protein;
   transfection; myofibrils; confocal microscopy
ID ALPHA-TROPOMYOSIN; HYPERTROPHIC CARDIOMYOPATHY; AMBYSTOMA-MEXICANUM;
   HEART
AB Tropomyosins are a family of actin binding proteins encoded by a group of highly conserved genes. Humans have four tropomyosin-encoding genes: TPM1, TPM2, TPM3, and TPM4, each of which is known to generate multiple isoforms by alternative splicing. promoters, and 3' end processing. TPM1 is the most versatile and encodes a variety of tissue specific isoforms. The TPM1 isoform specific to striated muscle, designated TPM1alpha, consists of 10 exons: 1a, 2b, 3, 4, 5 6b, 7, 8, and 9a/b. In this study, Using RT-PCR with adult and fetal human RNAs, we present evidence for the expression of a novel isoform of the TPM1 gene that is specifically expressed in cardiac tissues. The new isoform is designated TPM1kappa and contains exon 2a instead of 2b. Ectopic expression of human GFP.TPM1kappa fusion protein can promote myofibrillogenesis in cardiac mutant axolotl hearts that are lacking in tropomyosin. (C) 2004 Elsevier Inc. All rights reserved.
C1 SUNY Upstate Med Univ, Dept Cell & Dev Biol, Syracuse, NY 13210 USA.
   SUNY Upstate Med Univ, Dept Med, Syracuse, NY 13210 USA.
   Univ Birmingham, Sch Biosci, Birmingham B15 2TT, W Midlands, England.
C3 State University of New York (SUNY) System; State University of New York
   (SUNY) Upstate Medical Center; State University of New York (SUNY)
   System; State University of New York (SUNY) Upstate Medical Center;
   University of Birmingham
RP SUNY Upstate Med Univ, Dept Cell & Dev Biol, 750 E Adams St, Syracuse, NY 13210 USA.
EM dubed@upstate.edu
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NR 15
TC 56
Z9 63
U1 0
U2 4
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD AUG 6
PY 2004
VL 320
IS 4
BP 1291
EP 1297
DI 10.1016/j.bbrc.2004.06.084
PG 7
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 841IL
UT WOS:000222923400036
PM 15249230
DA 2025-04-10
ER

PT J
AU Ganaie, SS
   Chen, AY
   Huang, C
   Xu, P
   Kleiboeker, S
   Du, AF
   Qiu, JM
AF Ganaie, Safder S.
   Chen, Aaron Yun
   Huang, Chun
   Xu, Peng
   Kleiboeker, Steve
   Du, Aifang
   Qiu, Jianming
TI RNA Binding Protein RBM38 Regulates Expression of the 11-Kilodalton
   Protein of Parvovirus B19, Which Facilitates Viral DNA Replication
SO JOURNAL OF VIROLOGY
LA English
DT Article
DE B19; mRNA splicing; parvovirus
ID PRE-MESSENGER-RNA; CELL-CYCLE ARREST; PROGENITOR CELLS; INTERNAL
   POLYADENYLATION; ERYTHROID PROGENITORS; IN-VITRO; INFECTION; VIRUS;
   GENOME; FAMILY
AB Human parvovirus B19 (B19V) expresses a single precursor mRNA (pre-mRNA), which undergoes alternative splicing and alternative polyadenylation to generate 12 viral mRNA transcripts that encode two structural proteins (VP1 and VP2) and three nonstructural proteins (NS1, 7.5-kDa protein, and 11-kDa protein). Splicing at the second 5' donor site (D2 site) of the B19V pre-mRNA is essential for the expression of VP2 and the 11-kDa protein. We previously identified that cis-acting intronic splicing enhancer 2 (ISE2) that lies immediately after the D2 site facilitates the recognition of the D2 donor for its efficient splicing. In this study, we report that ISE2 is critical for the expression of the 11-kDa viral nonstructural protein. We found that ISE2 harbors a consensus RNA binding motif protein 38 (RBM38) binding sequence, 5'-UGUGUG-3'. RBM38 is expressed during the middle stage of erythropoiesis. We first confirmed that RBM38 binds specifically with the ISE2 element in vitro. The knockdown of RBM38 significantly decreases the level of spliced mRNA at D2 that encodes the 11-kDa protein but not that of the D2-spliced mRNA that encodes VP2. Importantly, we found that the 11-kDa protein enhances viral DNA replication and virion release. Accordingly, the knockdown of RBM38 decreases virus replication via downregulating 11-kDa protein expression. Taken together, these results suggest that the 11-kDa protein facilitates B19V DNA replication and that RBM38 is an essential host factor for B19V pre-mRNA splicing and for the expression of the 11-kDa protein.
   IMPORTANCE B19V is a human pathogen that can cause fifth disease, arthropathy, anemia in immunocompromised patients and sickle cell disease patients, myocarditis, and hydrops fetalis in pregnant women. Human erythroid progenitor cells (EPCs) are most susceptible to B19V infection and fully support viral DNA replication. The exclusive tropism of B19V for erythroid-lineage cells is dependent not only on the expression of viral receptors and coreceptors on the cell surface but also on the intracellular host factors that support B19V replication. Our present study shows that B19V uses a host factor, RNA binding motif protein 38 (RBM38), for the processing of its pre-mRNA during virus replication. Specifically, RBM38 interacts with the intronic splicing enhancer 2 (ISE2) element of B19V pre-mRNA and promotes 11-kDa protein expression, thereby regulating the 11-kDa protein-mediated augmentation of B19V replication. The identification of this novel host-pathogen interaction will provide mechanistic insights into B19V replication and aid in finding new targets for anti-B19V therapeutics.
C1 [Ganaie, Safder S.; Chen, Aaron Yun; Xu, Peng; Qiu, Jianming] Univ Kansas, Med Ctr, Dept Microbiol Mol Genet & Immunol, Kansas City, KS 66103 USA.
   [Huang, Chun; Du, Aifang] Zhejiang Univ, Coll Anim Sci, Zhejiang Prov Key Lab Prevent Vet Med, Inst Prevent Vet Med, Hangzhou, Zhejiang, Peoples R China.
   [Kleiboeker, Steve] Viracor Eurofins Labs, Dept Res & Dev, Lees Summit, MO USA.
C3 University of Kansas; University of Kansas Medical Center; Zhejiang
   University
RP Qiu, JM (corresponding author), Univ Kansas, Med Ctr, Dept Microbiol Mol Genet & Immunol, Kansas City, KS 66103 USA.
EM jqiu@kumc.edu
RI Ganaie, Safder/AAH-5010-2020
OI Qiu, Jianming/0000-0001-9850-1695
FU National Institute of Allergy and Infectious Diseases [R01 AI070723]
FX This study was supported in full by PHS grant R01 AI070723 from the
   National Institute of Allergy and Infectious Diseases to J.Q. The
   funders had no role in study design, data collection and interpretation,
   or the decision to submit the work for publication.
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NR 56
TC 19
Z9 21
U1 1
U2 6
PU AMER SOC MICROBIOLOGY
PI WASHINGTON
PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA
SN 0022-538X
EI 1098-5514
J9 J VIROL
JI J. Virol.
PD APR
PY 2018
VL 92
IS 8
AR e02050-17
DI 10.1128/JVI.02050-17
PG 17
WC Virology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Virology
GA GA7TD
UT WOS:000428538800019
PM 29437973
OA Green Published
DA 2025-04-10
ER

PT J
AU Santos-Ledo, A
   Washer, S
   Dhanaseelan, T
   Eley, L
   Alqatani, A
   Chrystal, PW
   Papoutsi, T
   Henderson, DJ
   Chaudhry, B
AF Santos-Ledo, Adrian
   Washer, Sam
   Dhanaseelan, Tamil
   Eley, Lorraine
   Alqatani, Ahlam
   Chrystal, Paul W.
   Papoutsi, Tania
   Henderson, Deborah J.
   Chaudhry, Bill
TI Alternative splicing of jnk1a in zebrafish determines first heart
   field ventricular cardiomyocyte numbers through modulation of hand2
   expression
SO PLOS GENETICS
LA English
DT Article
ID N-TERMINAL KINASE; DE-NOVO MUTATIONS; CELLS; DIFFERENTIATION;
   MORPHOGENESIS; PROGENITORS; REGULATOR; APOPTOSIS; PAXILLIN; DISEASE
AB Author summary
   The planar cell polarity pathway is a genetic cascade important for normal development of the heart. The jnk gene family is known to act within this pathway but its specific role in heart development has been difficult to establish using mouse mutants because genes within the family overlap in function and embryos mutant for more than one jnk gene die before the heart is fully formed. In these studies, we used zebrafish to determine the role of jnk1 in heart development and found that a specific gene transcript from zebrafish jnk1a is needed to produce the full complement of cardiomyocytes that form the first part of the ventricular heart chamber. We show that this happens because jnk1a is required for the normal expression of hand2, a gene required to make ventricular heart cells. Furthermore, we can fully reverse the abnormalities in jnk1a embryos by increasing hand2 gene activity. This part of the zebrafish ventricular chamber is equivalent to the left ventricle in humans and understanding how jnk genes work may help understand why some human heart malformations are associated with an underdeveloped left ventricle.
   The planar cell polarity pathway is required for heart development and whilst the functions of most pathway members are known, the roles of the jnk genes in cardiac morphogenesis remain unknown as mouse mutants exhibit functional redundancy, with early embryonic lethality of compound mutants. In this study zebrafish were used to overcome early embryonic lethality in mouse models and establish the requirement for Jnk in heart development. Whole mount in-situ hybridisation and RT-PCR demonstrated that evolutionarily conserved alternative spliced jnk1a and jnk1b transcripts were expressed in the early developing heart. Maternal zygotic null mutant zebrafish lines for jnk1a and jnk1b, generated using CRISPR-Cas9, revealed a requirement for jnk1a in formation of the proximal, first heart field (FHF)-derived portion of the cardiac ventricular chamber. Rescue of the jnk1a mutant cardiac phenotype was only possible by injection of the jnk1a EX7 Lg alternatively spliced transcript. Analysis of mutants indicated that there was a reduction in the size of the hand2 expression field in jnk1a mutants which led to a specific reduction in FHF ventricular cardiomyocytes within the anterior lateral plate mesoderm. Moreover, the jnk1a mutant ventricular defect could be rescued by injection of hand2 mRNA. This study reveals a novel and critical requirement for Jnk1 in heart development and highlights the importance of alternative splicing in vertebrate cardiac morphogenesis. Genetic pathways functioning through jnk1 may be important in human heart malformations with left ventricular hypoplasia.
C1 [Santos-Ledo, Adrian; Washer, Sam; Dhanaseelan, Tamil; Eley, Lorraine; Alqatani, Ahlam; Chrystal, Paul W.; Papoutsi, Tania; Henderson, Deborah J.; Chaudhry, Bill] Newcastle Univ, Fac Med, Biosci Inst, Int Ctr Life, Newcastle Upon Tyne, Tyne & Wear, England.
C3 Newcastle University - UK
RP Chaudhry, B (corresponding author), Newcastle Univ, Fac Med, Biosci Inst, Int Ctr Life, Newcastle Upon Tyne, Tyne & Wear, England.
EM bill.chaudhry@ncl.ac.uk
RI Papoutsi, Tania/F-2324-2016; Chrystal, Paul/AAK-4717-2021; Santos,
   Adrian/HLX-7021-2023
OI Henderson, Deborah/0000-0002-2705-5998; Eley,
   Lorraine/0000-0002-8094-2254; Chrystal, Paul/0000-0002-5371-1178;
   Santos-Ledo, Adrian/0000-0002-6814-0718; Alqahtani,
   Ahlam/0000-0003-1145-8474; Washer, Sam/0000-0003-4004-8984
FU British Heart Foundation [PG/15/58/31611]
FX This project was funded by the British Heart Foundation, grant number
   PG/15/58/31611 awarded to BC and DJH. The funders had no role in study
   design, data collection and analysis, decision to publish, or
   preparation of the manuscript.
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NR 65
TC 11
Z9 11
U1 1
U2 6
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD MAY
PY 2020
VL 16
IS 5
AR e1008782
DI 10.1371/journal.pgen.1008782
PG 27
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA LU9FL
UT WOS:000538052400034
PM 32421721
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Wu, HJ
   Villalobos, RG
   Yao, X
   Reilly, D
   Chen, T
   Rankin, M
   Myshkin, E
   Breyer, MD
   Humphreys, BD
AF Wu, Haojia
   Villalobos, Romer Gonzalez
   Yao, Xiang
   Reilly, Dermot
   Chen, Tao
   Rankin, Matthew
   Myshkin, Eugene
   Breyer, Matthew D.
   Humphreys, Benjamin D.
TI Mapping the single-cell transcriptomic response of murine diabetic
   kidney disease to therapies
SO CELL METABOLISM
LA English
DT Article
ID GLUCOSE COTRANSPORTER 2; RNA-SEQ; EXPRESSION; HYPERTENSION; OSTEOPONTIN;
   NEPHROPATHY; INTEGRATION; MECHANISM; PACKAGE
AB Diabetic kidney disease (DKD) occurs in similar to 40% of patients with diabetes and causes kidney failure, cardiovascular disease, and premature death. We analyzed the response of a murine DKD model to five treatment regimens using single-cell RNA sequencing (scRNA-seq). Our atlas of similar to 1 million cells revealed a heteroge-neous response of all kidney cell types both to DKD and its treatment. Both monotherapy and combination therapies targeted differing cell types and induced distinct and non-overlapping transcriptional changes. The early effects of sodium-glucose cotransporter-2 inhibitors (SGLT2i) on the S1 segment of the proximal tubule suggest that this drug class induces fasting mimicry and hypoxia responses. Diabetes downregulated the spliceosome regulator serine/arginine-rich splicing factor 7 (Srsf7) in proximal tubule that was specifically rescued by SGLT2i. In vitro proximal tubule knockdown of Srsf7 induced a pro-inflammatory phenotype, implicating alternative splicing as a driver of DKD and suggesting SGLT2i regulation of proximal tubule alter-native splicing as a potential mechanism of action for this drug class.
C1 [Wu, Haojia; Humphreys, Benjamin D.] Washington Univ, Div Nephrol, Dept Med, St Louis, MO 63110 USA.
   [Villalobos, Romer Gonzalez; Reilly, Dermot; Rankin, Matthew; Myshkin, Eugene; Breyer, Matthew D.] CVM Janssen Res & Dev, Boston, MA USA.
   [Yao, Xiang] Tox LJ Janssen Res & Dev, La Jolla, CA USA.
   [Chen, Tao] PSTS Janssen Res & Dev, Shanghai, Peoples R China.
   [Myshkin, Eugene; Humphreys, Benjamin D.] Washington Univ, Dept Dev Biol, St Louis, MO 63110 USA.
C3 Washington University (WUSTL); Washington University (WUSTL)
RP Humphreys, BD (corresponding author), Washington Univ, Div Nephrol, Dept Med, St Louis, MO 63110 USA.; Humphreys, BD (corresponding author), Washington Univ, Dept Dev Biol, St Louis, MO 63110 USA.
EM humphreysbd@wustl.edu
RI Breyer, Matthew/KMX-2559-2024; Wu, Haojia/AAL-1327-2020
OI Chen, Tao/0000-0003-0469-2123
FU Janssen Pharmaceuticals; Washington University Diabetes Research Center
   NIH [DK20579]; NIH [DK103740]
FX This study was supported by a sponsored research agreement from Janssen
   Pharmaceuticals, by the Washington University Diabetes Research Center
   NIH DK20579 and by NIH DK103740.
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NR 62
TC 116
Z9 121
U1 3
U2 36
PU CELL PRESS
PI CAMBRIDGE
PA 50 HAMPSHIRE ST, FLOOR 5, CAMBRIDGE, MA 02139 USA
SN 1550-4131
EI 1932-7420
J9 CELL METAB
JI Cell Metab.
PD JUL 5
PY 2022
VL 34
IS 7
BP 1064
EP +
DI 10.1016/j.cmet.2022.05.010
EA JUL 2022
PG 22
WC Cell Biology; Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Endocrinology & Metabolism
GA 2W5FL
UT WOS:000824549400001
PM 35709763
OA Green Accepted, hybrid
DA 2025-04-10
ER

PT J
AU Mehlferber, MM
   Jeffery, ED
   Saquing, J
   Jordan, BT
   Sheynkman, L
   Murali, M
   Genet, G
   Acharya, BR
   Hirschi, KK
   Sheynkman, GM
AF Mehlferber, Madison M.
   Jeffery, Erin D.
   Saquing, Jamie
   Jordan, Ben T.
   Sheynkman, Leon
   Murali, Mayank
   Genet, Gael
   Acharya, Bipul R.
   Hirschi, Karen K.
   Sheynkman, Gloria M.
TI Characterization of protein isoform diversity in human umbilical vein
   endothelial cells via long-read proteogenomics
SO RNA BIOLOGY
LA English
DT Article
DE Long-read RNA-seq; PacBio; isoforms; mass-spectrometry-based proteomics;
   proteogenomics; cardiovascular; endothelial cells; HUVECs; alternative
   splicing; protein isoforms; nextflow; MetaMorpheus; Orbitrap
ID RNA; PROTEOMICS; IDENTIFICATION; STRATEGY; INSIGHTS; MARKERS; DOMAIN;
   EGFL7
AB Endothelial cells (ECs) comprise the lumenal lining of all blood vessels and are critical for the functioning of the cardiovascular system. Their phenotypes can be modulated by alternative splicing of RNA to produce distinct protein isoforms. To characterize the RNA and protein isoform landscape within ECs, we applied a long read proteogenomics approach to analyse human umbilical vein endothelial cells (HUVECs). Transcripts delineated from PacBio sequencing serve as the basis for a sample-specific protein database used for downstream mass-spectrometry (MS) analysis to infer protein isoform expression. We detected 53,863 transcript isoforms from 10,426 genes, with 22,195 of those transcripts being novel. Furthermore, the predominant isoform in HUVECs does not correspond with the accepted "reference isoform " 25% of the time, with vascular pathway-related genes among this group. We found 2,597 protein isoforms supported through unique peptides, with an additional 2,280 isoforms nominated upon incorporation of long-read transcript evidence. We characterized a novel alternative acceptor for endothelial-related gene CDH5, suggesting potential changes in its associated signalling pathways. Finally, we identified novel protein isoforms arising from a diversity of RNA splicing mechanisms supported by uniquely mapped novel peptides. Our results represent a high-resolution atlas of known and novel isoforms of potential relevance to endothelial phenotypes and function.
   [GRAPHICS]
C1 [Mehlferber, Madison M.; Sheynkman, Gloria M.] Univ Virginia, Dept Biochem & Mol Genet, Charlottesville, VA USA.
   [Mehlferber, Madison M.; Jeffery, Erin D.; Saquing, Jamie; Jordan, Ben T.; Sheynkman, Leon; Murali, Mayank; Sheynkman, Gloria M.] Univ Virginia, Dept Mol Physiol & Biol Phys, Charlottesville, VA 22903 USA.
   [Genet, Gael; Acharya, Bipul R.; Hirschi, Karen K.] Univ Virginia, Dept Cell Biol, Sch Med, Charlottesville, VA USA.
   [Acharya, Bipul R.; Hirschi, Karen K.] Univ Virginia, Cardiovasc Res Ctr, Charlottesville, VA USA.
   [Acharya, Bipul R.] Univ Manchester, Fac Biol Med & Hlth, Wellcome Ctr Cell Matrix Res, Manchester, England.
   [Sheynkman, Gloria M.] Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA USA.
   [Sheynkman, Gloria M.] Univ Virginia, UVA Comprehens Canc Ctr, Charlottesville, VA USA.
C3 University of Virginia; University of Virginia; University of Virginia;
   University of Virginia; University of Manchester; University of
   Virginia; University of Virginia
RP Sheynkman, GM (corresponding author), Univ Virginia, Dept Mol Physiol & Biol Phys, Charlottesville, VA 22903 USA.
EM gs9yr@virginia.edu
RI Sheynkman, Gloria/AEA-8603-2022; Acharya, Bipul/HRA-2521-2023
OI Murali, Mayank/0000-0001-7118-2698; Mehlferber,
   Madison/0000-0001-9598-8100
FU National Heart, Lung, and Blood Institute (NHLBI) [HL146056,
   T32HL007284]; National institute of Diabetes and Digestive and Kidney
   Diseases [DK118728]; National Heart Lung and Blood Institute
   [R01HL136314] Funding Source: NIH RePORTER
FX This work was supported by the National Heart, Lung, and Blood Institute
   (NHLBI) [HL146056]; National institute of Diabetes and Digestive and
   Kidney Diseases [DK118728]; National Heart, Lung, and Blood Institute
   (NHLBI) [T32HL007284].
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NR 68
TC 5
Z9 5
U1 0
U2 3
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1547-6286
EI 1555-8584
J9 RNA BIOL
JI RNA Biol.
PD DEC 31
PY 2022
VL 19
IS 1
BP 1228
EP 1243
DI 10.1080/15476286.2022.2141938
PG 16
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 6T8II
UT WOS:000893917500001
PM 36457147
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Klockner, U
   Mikala, G
   Eisfeld, J
   Iles, DE
   Strobeck, M
   Mershon, JL
   Schwartz, A
   Varadi, G
AF Klockner, U
   Mikala, G
   Eisfeld, J
   Iles, DE
   Strobeck, M
   Mershon, JL
   Schwartz, A
   Varadi, G
TI Properties of three COOH-terminal splice variants of a human cardiac
   L-type Ca2+-channel alpha(1)-subunit
SO AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
LA English
DT Article
DE calcium channels; genomic structure; alternative splicing; oocyte
   expression; HEK-293 expression
ID CHANNEL BETA-SUBUNIT; SENSITIVE CALCIUM-CHANNEL; NORMAL HUMAN HEART;
   CA2+ CHANNEL; FUNCTIONAL EXPRESSION; SKELETAL-MUSCLE; XENOPUS-OOCYTES;
   MOLECULAR-BASIS; CLONING; PHOSPHORYLATION
AB There is growing evidence for diversity of cardiac-type (class C) voltage-dependent calcium-channel alpha(1)-subunits arising from the alternative splicing of a primary transcript. In this study, we show the existence of carboxy-terminal variability in the human cardiac alpha(1)-gene by genomic cloning. We found that the genomic DNA segment encoding the COOH-terminal tail of the protein is composed of nine invariable and two alternative exons. The alternative utilization of these latter two exons gives rise to the formation of three message variants for this region. Reverse transcription followed by polymerase chain reaction and radioanalytic quantitation of the reverse transcription-polymerase chain reaction products showed significant variations in the distribution of these isoforms (hHt alpha(1), rHt alpha(1), fHt alpha(1)) in distinct parts of the heart, the aorta, and fibroblasts. Expression of the three alpha(1)-isoforms in Xenopus oocytes or in HEK-293 cells and analysis of the kinetics and voltage dependence of the induced calcium-channel currents revealed only insignificant differences in the behavior of these isoforms. When the alpha(1)-isoforms were coexpressed with a human beta-subunit, no alpha(1)-specific divergences were observed, but the effects of beta-subunit coexpression on alpha(1)-isoform biophysical properties were confirmed. The differential abundance of the three isoforms and the influence of an accessory subunit are of potential physiological significance.
C1 UNIV CINCINNATI, COLL MED, INST MOL PHARMACOL & BIOPHYS, CINCINNATI, OH 45267 USA.
   UNIV COLOGNE, DEPT PHYSIOL, D-50931 COLOGNE, GERMANY.
   CATHOLIC UNIV NIJMEGEN, DEPT CELL BIOL & HISTOL, NL-6500 HB NIJMEGEN, NETHERLANDS.
C3 University System of Ohio; University of Cincinnati; University of
   Cologne; Radboud University Nijmegen
OI Varadi, Gyula/0000-0003-2975-2049
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NR 35
TC 38
Z9 38
U1 0
U2 0
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6135
EI 1522-1539
J9 AM J PHYSIOL-HEART C
JI Am. J. Physiol.-Heart Circul. Physiol.
PD MAR
PY 1997
VL 272
IS 3
BP H1372
EP H1381
DI 10.1152/ajpheart.1997.272.3.H1372
PG 10
WC Cardiac & Cardiovascular Systems; Physiology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Physiology
GA WP598
UT WOS:A1997WP59800039
DA 2025-04-10
ER

PT J
AU Perrin, A
   Van Goethem, C
   Thèze, C
   Puechberty, J
   Guignard, T
   Lecardonnel, B
   Lacourt, D
   Métay, C
   Isapof, A
   Whalen, S
   Ferreiro, A
   Arne-Bes, MC
   Quijano-Roy, S
   Nectoux, J
   Leturcq, F
   Richard, P
   Larrieux, M
   Bergougnoux, A
   Pellestor, F
   Koenig, M
   Cossée, M
AF Perrin, Aurelien
   Van Goethem, Charles
   Theze, Corinne
   Puechberty, Jacques
   Guignard, Thomas
   Lecardonnel, Berenice
   Lacourt, Delphine
   Metay, Corinne
   Isapof, Arnaud
   Whalen, Sandra
   Ferreiro, Ana
   Arne-Bes, Marie-Christine
   Quijano-Roy, Susana
   Nectoux, Juliette
   Leturcq, France
   Richard, Pascale
   Larrieux, Marion
   Bergougnoux, Anne
   Pellestor, Franck
   Koenig, Michel
   Cossee, Mireille
TI Long-Reads Sequencing Strategy to Localize Variants in TTN
   Repeated Domains
SO JOURNAL OF MOLECULAR DIAGNOSTICS
LA English
DT Article
ID IDENTIFICATION; GENE; MUTATION; NEBULIN; REGION
AB Titin protein is responsible for muscle elasticity. The TTN gene, composed of 364 exons, is subjected to extensive alternative splicing and leads to different isoforms expressed in skeletal and cardiac muscle. Variants in TTN are responsible for myopathies with a wide phenotypic spectrum and autosomal dominant or recessive transmission. The I-band coding domain, highly subject to alternative splicing, contains a three-zone block of repeated sequences with 99% homology. Sequencing and localization of variants in these areas are complex when using short-reads sequencing, a second-generation sequencing technique. We have implemented a protocol based on the third-generation sequencing technology (long-reads sequencing). This new method allows us to localize variants in these repeated areas to improve the diagnosis of TTN-related myopathies and offer the analysis of relatives in post-natal or in prenatal screening.
C1 [Perrin, Aurelien; Van Goethem, Charles; Theze, Corinne; Lacourt, Delphine; Larrieux, Marion; Koenig, Michel; Cossee, Mireille] Montpellier Univ Hosp, Mol Diagnost Lab, Montpellier, France.
   [Perrin, Aurelien; Bergougnoux, Anne; Koenig, Michel; Cossee, Mireille] Univ Montpellier, CNRS, INSERM, PhyMedExp, Montpellier, France.
   [Puechberty, Jacques] Arnaud de Villeneuve Hosp, Dept Med Genet, Montpellier, France.
   [Guignard, Thomas; Lecardonnel, Berenice; Pellestor, Franck] Univ Montpellier, CHU Montpellier, Plateforme ChromoStem, Lab Genet Chromosom, Montpellier, France.
   [Metay, Corinne; Richard, Pascale] Sorbonne Univ, UF Mol Cardiogenet & Myogenet, Assistance Publ Hop Paris AP HP, Paris, France.
   [Metay, Corinne; Richard, Pascale] Sorbonne Univ UPMC Paris 06, Inserm UMRS974, Res Ctr Myol, Pitie Salpetriere Hosp, Paris, France.
   [Isapof, Arnaud] Hop Trousseau, Serv Neuropediat, Ctr Reference Malad Neuromusculaires Nord Est Ile, Paris, France.
   [Whalen, Sandra] Pitie Salpetriere, AP HP, Genet & Cytogenet Dept, Ctr Reference Deficiences Intellectuelles Causes, Paris, France.
   [Ferreiro, Ana] GHU Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaires Nord Est Il, Inst Myol, Paris, France.
   [Ferreiro, Ana] Univ Paris BFA, UMR 8251, CNRS, Basic & Translat Myol Lab, Paris, France.
   [Arne-Bes, Marie-Christine] Purpan Univ Hosp, Dept Neurol, Toulouse, France.
   [Quijano-Roy, Susana] GH Univ Paris Saclay, Raymond Poincare Hosp, AP HP, Neuromuscular Ctr,Child Neurol & ICU Dept, Garches, France.
   [Quijano-Roy, Susana] Univ Versailles, U1179 INSERM UVSQ, Montigny, France.
   [Nectoux, Juliette] Ctr Univ Paris, Hop Cochin, AP HP, Serv Genet & Biol Mol,DMU BioPhyGen, Paris, France.
   [Leturcq, France] Cochin Hosp, AP HP, Dept Genet & Mol Biol, Paris, France.
C3 Universite de Montpellier; CHU de Montpellier; Centre National de la
   Recherche Scientifique (CNRS); Universite de Montpellier; Institut
   National de la Sante et de la Recherche Medicale (Inserm); Universite de
   Montpellier; CHU de Montpellier; Universite de Montpellier; CHU de
   Montpellier; Assistance Publique Hopitaux Paris (APHP); Sorbonne
   Universite; Sorbonne Universite; Assistance Publique Hopitaux Paris
   (APHP); Hopital Universitaire Pitie-Salpetriere - APHP; Institut
   National de la Sante et de la Recherche Medicale (Inserm); Assistance
   Publique Hopitaux Paris (APHP); Sorbonne Universite; Hopital
   Universitaire Armand-Trousseau - APHP; Sorbonne Universite; Assistance
   Publique Hopitaux Paris (APHP); Hopital Universitaire Pitie-Salpetriere
   - APHP; Assistance Publique Hopitaux Paris (APHP); Hopital Universitaire
   Pitie-Salpetriere - APHP; Sorbonne Universite; Centre National de la
   Recherche Scientifique (CNRS); CNRS - National Institute for Biology
   (INSB); Universite Paris Cite; CHU de Toulouse; Assistance Publique
   Hopitaux Paris (APHP); Hopital Universitaire Raymond-Poincare - APHP;
   Universite Paris Saclay; Assistance Publique Hopitaux Paris (APHP);
   Universite Paris Cite; Hopital Universitaire Cochin - APHP; Assistance
   Publique Hopitaux Paris (APHP); Universite Paris Cite; Hopital
   Universitaire Cochin - APHP
RP Cossée, M (corresponding author), CHU Montpellier, Lab Genet Mol, PhymedExp INSERM U1046, CNRS UMR9214 UM IURC,Inst Univ Rech Clin, 641 Ave Doyen Gaston Giraud, F-34093 Montpellier 5, France.
EM mireille.cossee@inserm.fr
RI Quijano-Roy, Susana/GRF-6829-2022; Ferreiro, Ana/F-5371-2011
OI Ferreiro, Ana/0000-0003-2806-5386; Bergougnoux,
   Anne/0000-0002-6215-8570; Perrin, Aurelien/0000-0001-5895-3064; Van
   Goethem, Charles/0000-0002-8769-5719
FU French Muscular Dystrophy Association (AFM-Telethon) [AFM 21384];
   Delegation a la Recherche Cliniqueet a lInnovation du Groupement de
   Cooperation Sanitaire de la Mission d'Enseignement, de Recherche, de
   Reference et d'Innovation de Mont-pellier-Nimes; esearch platform
   Chromostem
FX Supported by AFM 21384 grant [The French Muscular Dystrophy Association
   (AFM-Telethon)] (A.P.), the Delegation a la Recherche Cliniqueet a
   lInnovation du Groupement de Cooperation Sanitaire de la
   MissiondEnseignement, de Recherche, de Reference et dInnovation de
   Mont-pellier-Nimes (A.P.), and the research platform Chromostem.
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NR 20
TC 1
Z9 1
U1 0
U2 9
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA STE 800, 230 PARK AVE, NEW YORK, NY 10169 USA
SN 1525-1578
EI 1943-7811
J9 J MOL DIAGN
JI J. Mol. Diagn.
PD JUL
PY 2022
VL 24
IS 7
BP 719
EP 726
DI 10.1016/j.jmoldx.2022.04.006
EA JUL 2022
PG 8
WC Pathology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pathology
GA 3A8SF
UT WOS:000827523500002
PM 35580751
OA Bronze, Green Submitted
DA 2025-04-10
ER

PT J
AU Giménez, I
AF Gimenez, Ignacio
TI Molecular mechanisms and regulation of furosemide-sensitive Na-K-Cl
   cotransporters
SO CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
LA English
DT Review
DE blood pressure; furosemide; hypertension; Na-K-Cl cotransporters; renal
   sodium handling; WNK kinases
ID RICH STE20-RELATED KINASE; THICK ASCENDING LIMB; BLOOD-PRESSURE;
   NA+-K+-2CL(-) COTRANSPORTER; SURFACE EXPRESSION; ION-TRANSPORT; WNK1;
   PHOSPHORYLATION; SPAK; NA-K-2CL
AB Purpose of review
   Relevant advances towards understanding how furosemide-sensitive Na-K-Cl cotransporters; (NKCC) are regulated by alternative splicing, phosphorylation and membrane expression have been made, which are critical to comprehending the role of NKCCs in blood pressure homeostasis.
   Recent findings
   A major breakthrough has been the description of a macromolecular complex responsible for the regulatory phosphorylation of NKCCs, involving members of two families of novel serine-threonine kinases: WNK kinases and Ste-20-related kinases SPAK and OSR1. A new regulatory pathway has been defined, with WNK lying upstream of SPAK-OSR1 and the latter kinases directly phosphorylating NKCC. New evidence has arisen supporting regulation of NKCC membrane expression, I possibly through the same mechanisms regulating phosphorylation. Alternative splicing of kidney-specific NKCC2 also appears to be a regulated process. Renal roles for NKCC1 have been described, including an unexpected role in controlling renin secretion.
   Summary
   We now begin to understand the biochemical pathways mediating NKCC regulatory phosphorylation, which are governed by kinases that, like NKCCs, have been linked to the genesis of hypertension. Complementary long-term regulation of NKCC membrane expression, alternative splicing or gene transcription, however, should not be overlooked. Deciphering the relationships between these processes will enhance our understanding of the pathogenesis of hypertension.
C1 Univ Zaragoza, Fac Med Zaragoza, Dept Physiol & Pharmacol, E-50009 Zaragoza, Spain.
C3 University of Zaragoza
RP Giménez, I (corresponding author), Univ Zaragoza, Fac Med Zaragoza, Dept Physiol & Pharmacol, Domingo Miral S-N, E-50009 Zaragoza, Spain.
EM igimenez@unizar.es
RI Gimenez, Ignacio/B-6322-2013
OI Gimenez, Ignacio/0000-0002-6043-4869
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NR 51
TC 61
Z9 73
U1 0
U2 14
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 1062-4821
EI 1473-6543
J9 CURR OPIN NEPHROL HY
JI Curr. Opin. Nephrol. Hypertens.
PD SEP
PY 2006
VL 15
IS 5
BP 517
EP 523
DI 10.1097/01.mnh.0000242178.44576.b0
PG 7
WC Urology & Nephrology; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Urology & Nephrology; Cardiovascular System & Cardiology
GA 083VH
UT WOS:000240485800008
PM 16914965
DA 2025-04-10
ER

PT J
AU Waibler, Z
   Schäfer, A
   Starzinski-Powitz, A
AF Waibler, Z
   Schäfer, A
   Starzinski-Powitz, A
TI mARVCF cellular localisation and binding to cadherins is influenced by
   the cellular context but not by alternative splicing
SO JOURNAL OF CELL SCIENCE
LA English
DT Article
DE p120(ctn) subfamily; MOM recruitment assay; armadillo repeat protein
ID CARDIO-FACIAL SYNDROME; SEGMENT POLARITY GENE; ADHESION MOLECULE
   UVOMORULIN; N-CADHERIN; COMPLEX-FORMATION; BETA-CATENIN; PROTEIN
   INTERACTIONS; CARCINOMA-CELLS; ALPHA-CATENIN; ARMADILLO
AB ARVCF, a member of the catenin family, is thought to contribute to the morphoregulatory function of the cadherin-catenin complex. Recently, we reported the isolation and characterisation of murine ARVCF (mARVCF), particularly its interaction with M-cadherin. Here, we describe the identification of novel mARVCF isoforms that arise by alternative splicing. At the N-terminus, alternative splicing results in the inclusion or omission of a coiled-coil region probably important for protein-protein interactions. At the C-terminus, four isoforms also differ by domains potentially important for selective protein-protein interaction. The eight putative mARVCF isoforms were expressed as EGFP-fusion proteins in six different cell lines that exhibit a distinct pattern of cadherins. Apparently, binding of the mARVCF isoforms to M-, N-, or E-cadherin is generally unaffected by their altered N- and C-termini, as revealed by the MOM recruitment assay. However, mARVCF isoforms reproducibly exhibit differential localisation in distinct cellular environments. For example, mARVCF isoforms are unable to colocalise with N-cadherin in EJ28 carcinoma cells but do so in HeLa cells. Our results suggest that the subcellular localisation of mARVCF may be determined not only by the presence or absence of an appropriate interaction partner, in this case cadherins, but also by the cellular context.
C1 Univ Frankfurt, Inst Anthropol & Humangenet Biol, D-60054 Frankfurt, Germany.
C3 Goethe University Frankfurt
RP Starzinski-Powitz, A (corresponding author), Univ Frankfurt, Inst Anthropol & Humangenet Biol, Siesmayerstr 70, D-60054 Frankfurt, Germany.
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NR 54
TC 14
Z9 17
U1 0
U2 0
PU COMPANY OF BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL,
   CAMBS, ENGLAND
SN 0021-9533
J9 J CELL SCI
JI J. Cell Sci.
PD NOV
PY 2001
VL 114
IS 21
BP 3873
EP 3884
PG 12
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 496HZ
UT WOS:000172391300010
PM 11719554
DA 2025-04-10
ER

PT J
AU Danckwardt, S
   Kaufmann, I
   Gentzel, M
   Foerstner, KU
   Gantzert, AS
   Gehring, NH
   Neu-Yilik, G
   Bork, P
   Keller, W
   Wilm, M
   Hentze, MW
   Kulozik, AE
AF Danckwardt, Sven
   Kaufmann, Isabelle
   Gentzel, Marc
   Foerstner, Konrad U.
   Gantzert, Anne-Susan
   Gehring, Niels H.
   Neu-Yilik, Gabriele
   Bork, Peer
   Keller, Walter
   Wilm, Matthias
   Hentze, Matthias W.
   Kulozik, Andreas E.
TI Splicing factors stimulate polyadenylation via USEs at non-canonical 3′
   end formation signals
SO EMBO JOURNAL
LA English
DT Article
DE F2; mRNA processing; polyadenylation; splicing factor; upstream sequence
   element (USE)
ID MESSENGER-RNA POLYADENYLATION; UPSTREAM SEQUENCE ELEMENT; POLY(A) SITE
   RECOGNITION; GAIN-OF-FUNCTION; ALTERNATIVE POLYADENYLATION; FACTOR
   CPSF-73; U1 SNRNP; IN-VIVO; SPECIFICITY FACTOR; GENE-EXPRESSION
AB The prothrombin (F2) 3' end formation signal is highly susceptible to thrombophilia-associated gain-of-function mutations. In its unusual architecture, the F2 3' UTR contains an upstream sequence element (USE) that compensates for weak activities of the non-canonical cleavage site and the downstream U-rich element. Here, we address the mechanism of USE function. We show that the F2 USE contains a highly conserved nonameric core sequence, which promotes 30 end formation in a position-and sequence-dependent manner. We identify proteins that specifically interact with the USE, and demonstrate their function as trans-acting factors that promote 30 end formation. Interestingly, these include the splicing factors U2AF35, U2AF65 and hnRNPI. We show that these splicing factors not only modulate 30 end formation via the USEs contained in the F2 and the complement C2 mRNAs, but also in the biocomputationally identified BCL2L2, IVNS and ACTR mRNAs, suggesting a broader functional role. These data uncover a novel mechanism that functionally links the splicing and 30 end formation machineries of multiple cellular mRNAs in an USE-dependent manner.
C1 Univ Heidelberg, Dept Pediat Oncol Hematol & Immunol, D-69120 Heidelberg, Germany.
   EMBL, Mol Med Partnership Unit, Heidelberg, Germany.
   Univ Basel, Biozentrum, Basel, Switzerland.
   European Mol Biol Lab, Heidelberg, Germany.
C3 Ruprecht Karls University Heidelberg; European Molecular Biology
   Laboratory (EMBL); University of Basel; European Molecular Biology
   Laboratory (EMBL)
RP Hentze, MW (corresponding author), Univ Heidelberg, Dept Pediat Oncol Hematol & Immunol, Neuenheimer Feld 156, D-69120 Heidelberg, Germany.
EM Matthias.Hentze@embl.de; andreas.kulozik@med.uni-heidelberg.de
RI Förstner, Konrad/B-1531-2010; Kulozik, Andreas/AAO-2432-2020;
   Danckwardt, Sven/JRX-3763-2023; Bork, Peer/F-1813-2013; Hentze,
   Matthias/V-3980-2017
OI Gentzel, Marc/0000-0002-4482-6010; Bork, Peer/0000-0002-2627-833X; Wilm,
   Matthias/0000-0002-5461-6834; Forstner, Konrad U./0000-0002-1481-2996;
   Hentze, Matthias/0000-0002-4023-7876
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NR 52
TC 67
Z9 95
U1 0
U2 8
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK STREET, 9TH FLOOR, NEW YORK, NY 10013-1917 USA
SN 0261-4189
J9 EMBO J
JI Embo J.
PD JUN 6
PY 2007
VL 26
IS 11
BP 2658
EP 2669
DI 10.1038/sj.emboj.7601699
PG 12
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 176KO
UT WOS:000247084100005
PM 17464285
OA Green Published
DA 2025-04-10
ER

PT J
AU Ito, J
   Hashimoto, T
   Nakamura, S
   Aita, Y
   Yamazaki, T
   Schlegel, W
   Takimoto, K
   Maturana, AD
AF Ito, Jumpei
   Hashimoto, Taiki
   Nakamura, Sho
   Aita, Yusuke
   Yamazaki, Tomoko
   Schlegel, Werner
   Takimoto, Koichi
   Maturana, Andres D.
TI Splicing transitions of the anchoring protein ENH during striated muscle
   development
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE Scaffolding protein; Alternative splicing; C2C12; Heart
ID ENIGMA HOMOLOG; LIM DOMAINS; HEART
AB The ENH (PDLIM5) protein acts as a scaffold to tether various functional proteins at subcellular sites via PDZ and three LIM domains. Splicing of the ENH primary transcript generates various products with different repertories of protein interaction modules. Three LIM-containing ENH predominates in neonatal cardiac tissue, whereas LIM-less ENHs are abundant in adult hearts, as well as skeletal muscles. Here we examine the timing of splicing transitions of ENH gene products during postnatal heart development and C2C12 myoblast differentiation. Real-time PCR analysis shows that LIM-containing ENH1 mRNA is gradually decreased during postnatal heart development, whereas transcripts with the short exon 5 appear in the late postnatal period and continues to increase until at least one month after birth. The splicing transition from LIM-containing ENH1 to LIM-less ENHs is also observed during the early period of C2C12 differentiation. This transition correlates with the emergence of ENH transcripts with the short exon 5, as well as the expression of myogenin mRNA. In contrast, the shift from the short exon 5 to the exon 7 occurs in the late differentiation period. The timing of this late event corresponds to the appearance of mRNA for the skeletal myosin heavy chain MYH4. Thus, coordinated and stepwise splicing transitions result in the production of specific ENH transcripts in mature striated muscles. (C) 2012 Elsevier Inc. All rights reserved.
C1 [Ito, Jumpei; Hashimoto, Taiki; Nakamura, Sho; Takimoto, Koichi; Maturana, Andres D.] Nagaoka Univ Technol, Dept Bioengn, Nagaoka, Niigata 9402188, Japan.
   [Aita, Yusuke; Yamazaki, Tomoko; Maturana, Andres D.] Tokyo Inst Technol, Global Edge Inst, Tokyo 1528550, Japan.
   [Schlegel, Werner] Univ Geneva, Fac Med, Fdn Rech Med, CH-1211 Geneva, Switzerland.
C3 Nagaoka University of Technology; Institute of Science Tokyo; Tokyo
   Institute of Technology; University of Geneva
RP Maturana, AD (corresponding author), Nagaoka Univ Technol, Dept Bioengn, 1603-1 Kamitomioka, Nagaoka, Niigata 9402188, Japan.
EM maturana@vos.nagaokaut.ac.jp
OI Ito, Jumpei/0000-0001-5149-9962; Aita, Yusuke/0009-0006-5742-0710
CR Bland CS, 2010, NUCLEIC ACIDS RES, V38, P7651, DOI 10.1093/nar/gkq614
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   Lasorella A, 2006, P NATL ACAD SCI USA, V103, P4976, DOI 10.1073/pnas.0600168103
   Li FQ, 1996, J MOL CELL CARDIOL, V28, P1737, DOI 10.1006/jmcc.1996.0163
   Maturana AD, 2008, CARDIOVASC RES, V78, P458, DOI 10.1093/cvr/cvn052
   Nakagawa N, 2000, BIOCHEM BIOPH RES CO, V272, P505, DOI 10.1006/bbrc.2000.2787
   Niederländer N, 2004, BIOCHEM BIOPH RES CO, V325, P1304, DOI 10.1016/j.bbrc.2004.10.178
   Tomczak KK, 2004, FASEB J, V18, DOI 10.1096/fj.03-0568fje
   Velthuis A.J. Te, 2007, PLOS ONE, V2
   Yamazaki T, 2010, CARDIOVASC RES, V86, P374, DOI 10.1093/cvr/cvq023
NR 14
TC 12
Z9 13
U1 0
U2 12
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD MAY 4
PY 2012
VL 421
IS 2
BP 232
EP 238
DI 10.1016/j.bbrc.2012.03.142
PG 7
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 944QZ
UT WOS:000304220200013
PM 22497889
DA 2025-04-10
ER

PT J
AU Walchli, C
   Marcionelli, R
   Odermatt, BF
   Peltonen, J
   Vuorio, E
   Trueb, B
AF Walchli, C
   Marcionelli, R
   Odermatt, BF
   Peltonen, J
   Vuorio, E
   Trueb, B
TI Expression and distribution of two alternatively spliced transcripts
   from the chicken alpha 2(VI) collagen gene
SO JOURNAL OF CELLULAR BIOCHEMISTRY
LA English
DT Article
DE alternative splicing; collagen VI; extracellular matrix; in situ
   hybridization; tissue distribution
ID A-LIKE DOMAINS; VI-COLLAGEN; VONWILLEBRAND-FACTOR; GLOBULAR DOMAINS;
   MESSENGER-RNAS; EXTRACELLULAR-MATRIX; PROTEIN VARIANTS; MOSAIC
   STRUCTURE; CHAIN; LOCALIZATION
AB Two types of mRNA molecules with different 3' ends are transcribed from the chicken alpha 2(VI) collagen gene. The major splice variant encodes a polypeptide with a von Willebrand factor A domain at its carboxyl terminus. In the minor splice variant, this A domain is replaced by a novel motif which reveals some similarity to a fibronectin type III repeat. In situ hybridization experiments demonstrate that the major transcript is ubiquitously expressed. Substantial amounts are found in skeletal and cardiac muscle, gizzard, skin, tendon, liver, the wall of blood vessels, and the connective tissue of peripheral nerves. In contrast, the minor transcript is expressed at a very low level and can hardly be detected in any tissue by in situ hybridization. Only the aortic wall contains a considerable amount of this splice variant. However, no difference is observed by Northern blotting and the polymerase chain reaction in the ratio of the two transcripts when aorta and the other tissues are compared. Thus, the minor splice variant is not expressed in a tissue specific manner and, consequently, it is unlikely that it plays a tissue specific role. It might rather serve a general function in the structure and assembly of type VI collagen microfibrils. (C) 1996 Wiley-Liss, Inc.
C1 UNIV BERN,ME MULLER INST BIOMECH,CH-3010 BERN,SWITZERLAND.
   SWISS FED INST TECHNOL,CH-8092 ZURICH,SWITZERLAND.
   UNIV ZURICH HOSP,DEPT PATHOL,CH-8091 ZURICH,SWITZERLAND.
   UNIV TURKU,DEPT MED BIOCHEM & MOL BIOL,FIN-20520 TURKU,FINLAND.
C3 University of Bern; Swiss Federal Institutes of Technology Domain; ETH
   Zurich; University of Zurich; University Zurich Hospital; University of
   Turku
RI Trueb, Beat/AAL-9621-2020; Peltonen, Juha/C-2817-2008
OI Vuorio, Eero/0000-0003-3404-2439; Peltonen, Juha/0000-0002-5732-4167;
   Trueb, Beat/0000-0001-8684-6856
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NR 36
TC 1
Z9 1
U1 0
U2 1
PU WILEY-LISS
PI NEW YORK
PA DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012
SN 0730-2312
J9 J CELL BIOCHEM
JI J. Cell. Biochem.
PD NOV 1
PY 1996
VL 63
IS 2
BP 207
EP 220
PG 14
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA VQ264
UT WOS:A1996VQ26400008
PM 8913872
DA 2025-04-10
ER

PT J
AU Agrotis, A
   Condron, M
   Bobik, A
AF Agrotis, A
   Condron, M
   Bobik, A
TI Alternative splicing within the TGF-β type I receptor gene (ALK-5)
   generates two major functional isoforms in vascular smooth muscle cells
SO FEBS LETTERS
LA English
DT Article
DE type I transforming growth factor-beta receptor; (ALK-5); splice
   variant; vascular smooth muscle
ID GROWTH-FACTOR-BETA; HYPERTENSIVE RATS; ACTIVATION; MEMBRANE; CLONING;
   COMPLEMENTATION; PROLIFERATION; INHIBITION; EXPRESSION; PROTEINS
AB We have identified in rat vascular smooth muscle cells (sn rcs) the simultaneous expression of two TGF-beta type I receptor (ALK-5) cDNAs, occurring as a consequence of alternate usage of AG splice acceptor motifs separated by 12 nucleotides located at an intron-exon junction. When translated the resultant full length proteins differ from each other only by the in-frame presence or absence of Gly-Pro-Phe-Ser residues adjacent to their transmembrane domain. Stable expression of these alternate ALK-5 isoforms in ALK-5-deficient cells demonstrated that both were competent in signaling TGF-beta-induced growth inhibition and gene transcription, but with an apparently distinct potency. Our data suggest that alternate splicing within the ALK-5 gene is an important mechanism whereby SMCs may regulate their response to TGF-beta. (C) 2000 Federation of European Biochemical Societies.
C1 Alfred Hosp, Baker Med Res Inst, Cell Biol Lab, Prahran, Vic 8008, Australia.
C3 Florey Institute of Neuroscience & Mental Health; Howard Florey
   Institute Affiliates; Baker Heart and Diabetes Institute
RP Agrotis, A (corresponding author), Baker Med Res Inst, Cell Biol Lab, POB 6492,St Kilda Rd Cent, Melbourne, Vic 8008, Australia.
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NR 27
TC 14
Z9 17
U1 0
U2 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0014-5793
J9 FEBS LETT
JI FEBS Lett.
PD FEB 4
PY 2000
VL 467
IS 1
BP 128
EP 132
DI 10.1016/S0014-5793(00)01132-7
PG 5
WC Biochemistry & Molecular Biology; Biophysics; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics; Cell Biology
GA 283YK
UT WOS:000085303500026
PM 10664470
DA 2025-04-10
ER

PT J
AU Veltrop, RJA
   Kukk, MM
   Topouzidou, K
   Didden, L
   Muchir, A
   van Steenbeek, FG
   Schurgers, LJ
   Harakalova, M
AF Veltrop, R. J. A.
   Kukk, M. M.
   Topouzidou, K.
   Didden, L.
   Muchir, A.
   van Steenbeek, F. G.
   Schurgers, L. J.
   Harakalova, M.
TI From gene to mechanics: a comprehensive insight into the mechanobiology
   of LMNA mutations in cardiomyopathy
SO CELL COMMUNICATION AND SIGNALING
LA English
DT Review
DE Cardiolaminopathy; Mechanotransduction pathways; Kinase activity;
   Dynamic reciprocity; Mechanobiochemistry
ID LAMIN A/C GENE; DILATED CARDIOMYOPATHY; SIGNALING PATHWAY;
   MUSCULAR-DYSTROPHY; NUCLEAR-ENVELOPE; HEART FUNCTION; SERUM-LEVELS;
   MOUSE MODEL; KINASE 1; HIPPO
AB Severe cardiac remodeling leading to heart failure in individuals harboring pathogenic LMNA variants, known as cardiolaminopathy, poses a significant clinical challenge. Currently, there is no effective treatment for lamin-related diseases. Exploring the intricate molecular landscape underlying this condition, with a specific focus on abnormal mechanotransduction, will propel our understanding of cardiolaminopathy. The LMNA gene undergoes alternative splicing to create A-type lamins, a part of the intermediate filament protein family. A-type lamins are located underneath the nuclear envelope, and given their direct interaction with chromatin, they serve as mechanosensory of the cell by interacting with the cytoskeleton and safeguarding the transcriptional program of cells. Nucleated cells in the cardiovascular system depend on precise mechanical cues for proper function and adaptation to stress. Mechanosensitive signaling pathways are essential in regulating mechanotransduction. They play a pivotal role in various molecular and cellular processes and commence numerous downstream effects, leading to transcriptional activation of target genes involved in proliferation, migration, and (anti-)apoptosis. Most pathways are known to be regulated by kinases, and this area remains largely understudied in cardiomyopathies. Heart failure is linked to disrupted mechanotransduction, where LMNA mutations affect nuclear integrity, impacting the response to extracellular matrix signals and the environment. The Hippo pathway, anchored by YAP1/WWTR1, emerges as a central player by orchestrating cellular responses to mechanical signals. However, the involvement of Hippo and YAP1/WWTR1 in cardiolaminopathy is unclear and likely mutation- and tissue-specific, warranting further investigation. Here, we highlight the involvement of multiple signaling pathways in mechanotransduction in cardiolaminopathy. We delve into (non-)canonical functions of key signaling components, which may hold critical clues for understanding disease pathogenesis. In summary, we comprehensively examine the mechanobiology of A-type lamins, the role of mechanosensitive signaling pathways, and their intricate interplay in the pathogenesis of cardiolaminopathy. A better understanding of these mechanisms is paramount for developing targeted therapies and interventions for individuals afflicted with this debilitating cardiac condition. Prior studies overlooked accurate gene nomenclature in protein and pathway names. Our review addresses this gap, ensuring precision by aligning names with correct gene nomenclature.
C1 [Veltrop, R. J. A.; Kukk, M. M.; Topouzidou, K.; Didden, L.; Schurgers, L. J.] Maastricht Univ, Dept Biochem, CARIM, Maastricht, Netherlands.
   [Veltrop, R. J. A.; Harakalova, M.] Univ Med Ctr Utrecht, Dept Cardiol, Div Heart & Lungs, Utrecht, Netherlands.
   [Veltrop, R. J. A.; Harakalova, M.] Univ Med Ctr Utrecht, Regenerat Med Utrecht, Utrecht, Netherlands.
   [Veltrop, R. J. A.] LMNA Patient Org, LMNAcardiac Org, Soest, Netherlands.
   [Veltrop, R. J. A.] ENMC, Striated Muscle Laminopathy Consortium, Baarn, Netherlands.
   [Muchir, A.] Ctr Rech Myol, U974 SU INSERM, F-75013 Paris, France.
   [van Steenbeek, F. G.] Univ Utrecht, Fac Vet Med, Dept Clin Sci Compan Anim, Utrecht, Netherlands.
C3 Maastricht University; Maastricht University Medical Centre (MUMC);
   Utrecht University; Utrecht University Medical Center; Utrecht
   University; Utrecht University Medical Center; Institut National de la
   Sante et de la Recherche Medicale (Inserm); Utrecht University
RP Veltrop, RJA (corresponding author), Maastricht Univ, Dept Biochem, CARIM, Maastricht, Netherlands.; Veltrop, RJA (corresponding author), Univ Med Ctr Utrecht, Dept Cardiol, Div Heart & Lungs, Utrecht, Netherlands.; Veltrop, RJA (corresponding author), Univ Med Ctr Utrecht, Regenerat Med Utrecht, Utrecht, Netherlands.; Veltrop, RJA (corresponding author), LMNA Patient Org, LMNAcardiac Org, Soest, Netherlands.; Veltrop, RJA (corresponding author), ENMC, Striated Muscle Laminopathy Consortium, Baarn, Netherlands.
EM r.veltrop@maastrichtuniversity.nl
RI van Steenbeek, F.G./AFL-0046-2022; Schurgers, Leon/AAT-7100-2021
OI Schurgers, Leon/0000-0001-7867-6957; Veltrop, Rogier/0000-0002-1386-820X
FU LMNAcardiac.org
FX Not applicable.
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TC 7
Z9 7
U1 1
U2 3
PU BMC
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
EI 1478-811X
J9 CELL COMMUN SIGNAL
JI Cell Commun. Signal.
PD MAR 27
PY 2024
VL 22
IS 1
AR 197
DI 10.1186/s12964-024-01546-5
PG 17
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA MR1H3
UT WOS:001195262000004
PM 38539233
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Czubak, K
   Sedehizadeh, S
   Kozlowski, P
   Wojciechowska, M
AF Czubak, Karol
   Sedehizadeh, Saam
   Kozlowski, Piotr
   Wojciechowska, Marzena
TI An Overview of Circular RNAs and Their Implications in Myotonic
   Dystrophy
SO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
LA English
DT Review
DE circular RNAs (circRNAs); back-splicing; myotonic dystrophy type 1
   (DM1); alternative pre-mRNA splicing; muscleblind-like proteins;
   RNA-binding proteins
ID PRE-MESSENGER-RNA; BINDING PROTEIN; CTG REPEAT; QUAKING; GENE; FUS;
   DIFFERENTIATION; BIOGENESIS; EXPRESSION; MOLECULES
AB Circular RNAs (circRNAs) are a class of single-stranded covalently closed RNA rings. Biogenesis of circRNAs, which may occur co-transcriptionally and post-transcriptionally via a back-splicing mechanism, requires the presence of complementary and/or inverted repeat sequences in introns flanking back-spliced exons and is facilitated by RNA-binding proteins. CircRNAs are abundant across eukaryotes; however, their biological functions remain largely speculative. Recently, they have been emerging as new members of a gene regulatory network and contributing factors in various human diseases including cancer, neurological, muscular and cardiovascular disorders. In this review, we present an overview of the current knowledge about circRNAs biogenesis and their aberrant expression in various human disorders. In particular, we focus on the latest discovery of circRNAs global upregulation in myotonic dystrophy type 1 (DM1) skeletal muscles and the role these prospective biomarkers might have for prognosis and therapeutic response in DM1.
C1 [Czubak, Karol; Kozlowski, Piotr; Wojciechowska, Marzena] Polish Acad Sci, Inst Bioorgan Chem, Dept Mol Genet, PL-61704 Poznan, Poland.
   [Sedehizadeh, Saam] Univ Nottingham, Queens Med Ctr, Sch Life Sci, Nottingham NG7 2QL, England.
C3 Polish Academy of Sciences; Institute of Bioorganic Chemistry of the
   Polish Academy of Sciences; University of Nottingham
RP Kozlowski, P; Wojciechowska, M (corresponding author), Polish Acad Sci, Inst Bioorgan Chem, Dept Mol Genet, PL-61704 Poznan, Poland.
EM kozlowp@ibch.poznan.pl; mwojska@ibch.poznan.pl
RI Czubak, Karol/MSV-8450-2025; wojciechowska, marzena/H-4900-2014;
   kozlowski, piotr/I-1860-2019
OI Czubak, Karol/0000-0002-0489-8773; kozlowski, piotr/0000-0003-3770-7715
FU National Science Center PL [2016/21/N/NZ5/00508, 2014/13/B/NZ5/03214]
FX This work was supported by the National Science Center PL
   [2016/21/N/NZ5/00508 (to K.C.), and 2014/13/B/NZ5/03214 (to M.W.).
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NR 106
TC 18
Z9 19
U1 0
U2 6
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 1422-0067
J9 INT J MOL SCI
JI Int. J. Mol. Sci.
PD SEP 2
PY 2019
VL 20
IS 18
AR 4385
DI 10.3390/ijms20184385
PG 19
WC Biochemistry & Molecular Biology; Chemistry, Multidisciplinary
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Chemistry
GA JC2IK
UT WOS:000489100500064
PM 31500099
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Martinez-Redondo, V
   Jannig, PR
   Correia, JC
   Ferreira, DMS
   Cervenka, I
   Lindvall, JM
   Sinha, I
   Izadi, M
   Pettersson-Klein, AT
   Agudelo, LZ
   Gimenez-Cassina, A
   Brum, PC
   Dahlman-Wright, K
   Ruas, JL
AF Martinez-Redondo, Vicente
   Jannig, Paulo R.
   Correia, Jorge C.
   Ferreira, Duarte M. S.
   Cervenka, Igor
   Lindvall, Jessica M.
   Sinha, Indranil
   Izadi, Manizheh
   Pettersson-Klein, Amanda T.
   Agudelo, Leandro Z.
   Gimenez-Cassina, Alfredo
   Brum, Patricia C.
   Dahlman-Wright, Karin
   Ruas, Jorge L.
TI Peroxisome Proliferator-activated Receptor γ Coactivator-1 α Isoforms
   Selectively Regulate Multiple Splicing Events on Target Genes
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID SKELETAL-MUSCLE; TRANSCRIPTIONAL COACTIVATOR; PGC-1-ALPHA; PROTEIN;
   EXPRESSION; ANGIOGENESIS; INHIBITION; COMPLEX; GROWTH; NDRG4
AB Endurance and resistance exercise training induces specific and profound changes in the skeletal muscle transcriptome. Peroxisome proliferator-activated receptor gamma coactivator-1 a (PGC-1 alpha) coactivators are not only among the genes differentially induced by distinct training methods, but they also participate in the ensuing signaling cascades that allow skeletal muscle to adapt to each type of exercise. Although endurance training preferentially induces PGC-lal expression, resistance exercise activates the expression of PGC-1 alpha 2, -alpha 3, and -alpha 4. These three alternative PGC-la isoforms lack the arginine/serine-rich (RS) and RNA recognition motifs characteristic of PGC-lal. Discrete functions for PGC-lal and -alpha 4 have been described, but the biological role of PGC-1 alpha 2 and -a3 remains elusive. Here we show that different PGC-1 alpha variants can affect target gene splicing through diverse mechanisms, including alternative promoter usage. By analyzing the exon structure of the target transcripts for each PGC-la isoform, we were able to identify a large number of previously unknown PGC-1 alpha 2 and -a3 target genes and pathways in skeletal muscle. In particular, PGC-1a2 seems to mediate a decrease in the levels of cholesterol synthesis genes. Our results suggest that the conservation of the N-terminal activation and repression domains (and not the RS/RNA recognition motif) is what determines the gene programs and splicing options modulated by each PGC-la isoform. By using skeletal muscle-specific transgenic mice for PGC-lal and -alpha 4, we could validate, in vivo, splicing events observed in in vitro studies. These results show that alternative PGC-la variants can affect target gene expression both quantitatively and qualitatively and identify novel biological pathways under the control of this system of coactivators.
C1 [Martinez-Redondo, Vicente; Jannig, Paulo R.; Correia, Jorge C.; Ferreira, Duarte M. S.; Cervenka, Igor; Izadi, Manizheh; Pettersson-Klein, Amanda T.; Agudelo, Leandro Z.; Ruas, Jorge L.] Karolinska Inst, Dept Physiol & Pharmacol, Mol & Cellular Exercise Physiol Unit, SE-17177 Stockholm, Sweden.
   [Gimenez-Cassina, Alfredo] Karolinska Inst, Dept Med Biochem & Biophys, SE-17177 Stockholm, Sweden.
   [Jannig, Paulo R.; Brum, Patricia C.] Univ Sao Paulo, Sch Phys Educ & Sport, BR-05508030 Sao Paulo, Brazil.
   [Lindvall, Jessica M.; Sinha, Indranil; Dahlman-Wright, Karin] Karolinska Inst, Dept Biosci & Nutr, Novum, SE-14183 Huddinge, Sweden.
C3 Karolinska Institutet; Karolinska Institutet; Universidade de Sao Paulo;
   Karolinska Institutet
RP Ruas, JL (corresponding author), Karolinska Inst, Dept Physiol & Pharmacol, Mol & Cellular Exercise Physiol Unit, SE-17177 Stockholm, Sweden.
EM Jorge.Ruas@ki.se
RI Brum, Patricia/E-6605-2011; Lindvall, Jessica/A-1762-2013;
   Gimenez-Cassina, Alfredo/AAA-6550-2019; Sacramento Ferreira, Duarte
   Miguel/E-4270-2012; Ruas, Jorge/T-3040-2017; Jannig, Paulo
   Roberto/E-9482-2013
OI Klein, Amanda/0000-0003-3998-920X; Gimenez-Cassina,
   Alfredo/0000-0002-2768-2350; Sinha, Indranil/0000-0002-2513-5927;
   Sacramento Ferreira, Duarte Miguel/0000-0001-5940-7102; Ruas,
   Jorge/0000-0002-1110-2606; Jannig, Paulo Roberto/0000-0002-2569-4091;
   Lindvall, Jessica/0000-0002-5042-8481; Correia,
   Jorge/0000-0002-6377-9053
FU Swedish Research Council; Strategic Research Programme in Diabetes at
   Karolinska Institutet; Novo Nordisk Foundation (Denmark); Swedish
   Diabetes Foundation; Malin and Lennart Phiipson Foundation; Wenner-Gren
   Foundations (Sweden); Fundacao de Amparo a Pesquisa do Estado de Sao
   Paulo (Brazil); Svenska Sallskapet for Medicinsk Forskning (Sweden)
FX This work was supported in part by grants from the Swedish Research
   Council, the Strategic Research Programme in Diabetes at Karolinska
   Institutet, the Novo Nordisk Foundation (Denmark), the Swedish Diabetes
   Foundation, and the Malin and Lennart Phiipson Foundation (to J. L. R).
   The authors declare that they have no conflicts of interest with the
   contents of this article.r Supported in part by a postdoctoral
   fellowship from the Wenner-Gren Foundations (Sweden).r Recipient of a
   Fundacao de Amparo a Pesquisa do Estado de Sao Paulo fellowship
   (Brazil).r Supported in part by Svenska Sallskapet for Medicinsk
   Forskning (Sweden).
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NR 47
TC 58
Z9 70
U1 0
U2 7
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD JUL 15
PY 2016
VL 291
IS 29
BP 15169
EP 15184
DI 10.1074/jbc.M115.705822
PG 16
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA DS2GZ
UT WOS:000380583200026
PM 27231350
OA Green Published
DA 2025-04-10
ER

PT J
AU Zhang, MK
   Han, Y
   Liu, J
   Liu, LF
   Zheng, LQ
   Chen, YX
   Xia, RM
   Yao, DB
   Cai, XM
   Xu, XQ
AF Zhang, Mengkai
   Han, Yue
   Liu, Jing
   Liu, Lefeng
   Zheng, Longqing
   Chen, Yongxiong
   Xia, Rongmu
   Yao, Dongbo
   Cai, Xuemin
   Xu, Xiuqin
TI Rbm24 modulates adult skeletal muscle regeneration via regulation of
   alternative splicing
SO THERANOSTICS
LA English
DT Article
DE RNA binding motif protein 24; muscle injury; muscle regeneration;
   alternative splicing; myogenic differentiation
ID BINDING PROTEIN RBM24; MYOBLAST FUSION; SATELLITE CELLS; TRANSCRIPTION
   FACTOR; MUSCULAR-DYSTROPHY; RNA; EXPRESSION; DIFFERENTIATION; GENE;
   MECHANISMS
AB Rationale: The adult skeletal muscle can self-repair efficiently following mechanical or pathological damage due to its remarkable regenerative capacity. However, regulatory mechanisms underlying muscle regeneration are complicated and have not been fully elucidated. Alternative splicing (AS) is a major mechanism responsible for post-transcriptional regulation. Many aberrant AS events have been identified in patients with muscular dystrophy which is accompanied by abnormal muscle regeneration. However, little is known about the correlation between AS and muscle regeneration. It has been reported that RNA binding motif protein 24 (Rbm24), a tissue-specific splicing factor, is involved in embryo myogenesis while the role of Rbm24 in adult myogenesis (also called muscle regeneration) is poorly understood.
   Methods: To investigate the role of Rbm24 in adult skeletal muscle, we generated Rbm24 conditional knockout mice and satellite cell-specific knockout mice. Furthermore, a cardiotoxin (CTX)-induced injury model was utilized to assess the effects of Rbm24 on skeletal muscle regeneration. Genome-wide RNA-Seq was performed to identify the changes in AS following loss of Rbm24.
   Results: Rbm24 knockout mice displayed abnormal regeneration 4 months after tamoxifen treatment. Using RNA-Seq, we found that Rbm24 regulated a complex network of AS events involved in multiple biological processes, including myogenesis, muscle regeneration and muscle hypertrophy. Moreover, using a CTX-induced injury model, we showed that loss of Rbm24 in skeletal muscle resulted in myogenic fusion and differentiation defects and significantly delayed muscle regeneration. Furthermore, satellite cell-specific Rbm24 knockout mice recapitulated the defects in regeneration seen in the global Rbm24 knockout mice. Importantly, we demonstrated that Rbm24 regulated AS of Mef2d, Naca, Rock2 and Lrrfip1 which are essential for myogenic differentiation and muscle regeneration.
   Conclusions: The present study demonstrated that Rbm24 regulates dynamic changes in AS and is essential for adult skeletal muscle regeneration.
C1 [Zhang, Mengkai; Han, Yue; Liu, Jing; Zheng, Longqing; Xia, Rongmu; Yao, Dongbo; Cai, Xuemin; Xu, Xiuqin] Xiamen Univ, Sch Med, Inst Stem Cell & Regenerat Med, Chengzhi Bldg,Xiangan Campus, Xiamen 361100, Fujian, Peoples R China.
   [Liu, Jing] Xiamen Univ, Shenzhen Res Inst, Shenzhen 518000, Guangdong, Peoples R China.
   [Liu, Lefeng] Fujian Heze Biol Technol Co Ltd, Xiamen, Fujian, Peoples R China.
   [Chen, Yongxiong] Xiamen Univ, Eye Inst, Fujian Prov Key Lab Ophthalmol & Visual Sci, Xiamen, Fujian, Peoples R China.
C3 Xiamen University; Xiamen University; Xiamen University
RP Xu, XQ (corresponding author), Xiamen Univ, Sch Med, Inst Stem Cell & Regenerat Med, Chengzhi Bldg,Xiangan Campus, Xiamen 361100, Fujian, Peoples R China.
EM xuxq@xmu.edu.cn
RI DongBo, Yao/LFU-4220-2024; Han, Yue/ISB-0910-2023; rongmu,
   xia/CAG-5933-2022
FU National Natural Science Foundation of China [81871744, 81670286];
   National Key R&D program of China [2018YFA0107304]; Guangdong Natural
   Science Foundation [2017A030313113]
FX We would like to thank Professor Dahai Zhu for the Pax7-CreER mice and
   Professor Zhenji Gan for the mdx mice. This study was supported by
   National Natural Science Foundation of China (grant no's. 81871744 and
   81670286), National Key R&D program of China (grant no.2018YFA0107304),
   and the Guangdong Natural Science Foundation (grant no. 2017A030313113).
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NR 67
TC 26
Z9 28
U1 0
U2 11
PU IVYSPRING INT PUBL
PI LAKE HAVEN
PA PO BOX 4546, LAKE HAVEN, NSW 2263, AUSTRALIA
SN 1838-7640
J9 THERANOSTICS
JI Theranostics
PY 2020
VL 10
IS 24
BP 11159
EP 11177
DI 10.7150/thno.44389
PG 19
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA NU5FG
UT WOS:000573666500007
PM 33042276
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Webb, KE
   Martin, JF
   Cotton, J
   Erusalimsky, JD
   Humphries, SE
AF Webb, KE
   Martin, JF
   Cotton, J
   Erusalimsky, JD
   Humphries, SE
TI The 4830C &gt; A polymorphism within intron 5 affects the pattern of
   alternative splicing occurring within exon 6 of the thrombopoietin gene
SO EXPERIMENTAL HEMATOLOGY
LA English
DT Article
ID MEGAKARYOCYTE GROWTH; MPL-LIGAND; HEREDITARY THROMBOCYTHEMIA; POINT
   MUTATION; MESSENGER-RNA; SITE; IDENTIFICATION; ISOFORMS; DISEASE
AB Objective. A common variant in intron 5 of the thrombopoietin (TPO) gene (4830C > A) has been associated with risk of myocardial infarction (MI). To explore the molecular mechanism of this association, the ability of the intron to act as a transcription enhancer and to influence mRNA splicing was tested.
   Method and Results. In HepG2 cells the presence of intron 5 upstream of the TPO promoter decreased promoter activity to between 60 % and 30 %. This effect was orientation dependent; in the reverse orientation, intron 5 caused a twofold greater decrease in promoter activity compared to the forward orientation. However, the effects were similar with either the C or the 4830A allele. An in vitro exon trapping system was used to study the effect of the polymorphism on splicing events in exon 6. The full-length (TPO-1) and three previously reported splice variants (TPO-2, TPO-3, and TPO-5) were identified. The 4830A allele resulted in a small but statistically significant increase in production of the TPO-3 splice variant relative to the full-length transcript (10.6 % +/- 0.6 %) compared to the 4830C allele (8.3 % +/- 0.6 %) (p = 0.02). Generation of TPO-5 was also slightly increased, but this did not reach significance.
   Conclusion. The identification of a potential "silencer" sequence in intron 5 of the TPO gene demonstrates the complexity of control of expression of the gene. Although the precise role of the different splice variants is not known, the finding that the 4830C > A sequence change alters their relative amounts, suggests a possible molecular mechanism whereby TPO genotype may influence the risk of MI. (C) 2003 International Society for Experimental Hematology. Published by Elsevier Inc.
C1 UCL Royal Free & Univ Coll, Sch Med, Ctr Cardiovasc Genet, British Heart Fdn Labs, London WC1E 6JF, England.
   UCL Royal Free & Univ Coll, Sch Med, Ctr Cardiovasc Biol & Med, British Heart Fdn Labs, London WC1E 6JF, England.
   Kings Coll London, GKT Sch Med & Dent, Dept Cardiol, London, England.
C3 University of London; University College London; UCL Medical School;
   University of London; University College London; UCL Medical School;
   University of London; King's College London
RP UCL Royal Free & Univ Coll, Sch Med, Ctr Cardiovasc Genet, British Heart Fdn Labs, Rayne Bldg 5,Univ St, London WC1E 6JF, England.
EM rmhaseh@ucl.ac.uk
RI Humphries, Stephen/C-5075-2008
OI Humphries, Stephen E/0000-0002-8221-6547; Cotton,
   James/0000-0001-6548-2723; Erusalimsky, Jorge/0000-0002-4253-5789
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NR 25
TC 13
Z9 15
U1 0
U2 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0301-472X
EI 1873-2399
J9 EXP HEMATOL
JI Exp. Hematol.
PD JUN
PY 2003
VL 31
IS 6
BP 488
EP 494
DI 10.1016/S0301-472X(03)00065-1
PG 7
WC Hematology; Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology; Research & Experimental Medicine
GA 714UF
UT WOS:000184931300007
PM 12829024
OA hybrid
DA 2025-04-10
ER

PT J
AU Slusher, AL
   Kim, JJJ
   Ribick, M
   Ludlow, AT
AF Slusher, Aaron L.
   Kim, Jeongjin J. J.
   Ribick, Mark
   Ludlow, Andrew T.
TI Acute Exercise Regulates hTERT Gene Expression and Alternative
   Splicing in the hTERT-BAC Transgenic Mouse Model
SO MEDICINE & SCIENCE IN SPORTS & EXERCISE
LA English
DT Article
DE hTERT; SRSF2; ALTERNATIVE SPLICING; INTRONIC ELEMENT
ID TELOMERASE REVERSE-TRANSCRIPTASE; RNA; PROTECTS; DNA; INCREASES;
   PATTERNS; ENZYME; LENGTH
AB Introduction Aerobic exercise maintains telomere length through increased human telomerase reverse transcriptase (hTERT) expression and telomerase enzyme activity. The impact of acute exercise on hTERT alternative splicing (AS) is unknown. Purpose This study aimed to examine hTERT AS in response to acute treadmill running. Methods A bacterial artificial chromosome mouse model containing the 54-kilobase hTERT gene locus inserted into its genome (hTERT-BAC) was utilized. The gastrocnemius, left ventricle, and brain were excised before (Pre), upon cessation (Post), and during recovery (1, 24, 48, and 72 h; n = 5/time point) from treadmill running (30 min at 60% maximum speed). Full-length (FL) hTERT and the "minus beta" (-beta) AS variant (skips exons 7 and 8 and does not code for active telomerase) were measured by gel-based and droplet digital reverse transcription-polymerase chain reaction methods. SF3B4 and SRSF2 protein expression were measured by Western blotting. Results Compared with Pre, FL hTERT increased at Post before decreasing during recovery in the gastrocnemius (48 and 72 h; P <= 0.001) and left ventricle (24 h; P = 0.004). The percentage of FL hTERT in the gastrocnemius also increased during recovery (1 and 72 h; P <= 0.017), whereas a decrease was observed in the left ventricle (1, 24, and 48 h; P <= 0.041). hTERT decreased in the brain (48 h), whereas FL hTERT percentage remained unaltered. SF3B4 protein expression decreased throughout recovery in the gastrocnemius and tended to be associated with FL hTERT (r = -0.348, P = 0.075) and -beta in opposite directions (r = 0.345, P = 0.067). Conclusions Endurance exercise increased hTERT gene expression, and altered FL hTERT splicing in contractile tissues and may maintain telomere length necessary to improve the function and health of the organism.
C1 [Slusher, Aaron L.; Kim, Jeongjin J. J.; Ribick, Mark; Ludlow, Andrew T.] Univ Michigan, Sch Kinesiol, Ann Arbor, MI 48109 USA.
C3 University of Michigan System; University of Michigan
RP Ludlow, AT (corresponding author), 830 North Univ, Ann Arbor, MI 48109 USA.
EM aaron.slusher@yale.edu; snujjk@umich.edu; mribick@umich.edu;
   atludlow@umich.edu
OI Kim, Jeongjin/0000-0002-6959-8544
FU National Institutes of Health and National Cancer Institute
   [5R00CA197672-04]; University of Michigan's School of Kinesiology Marie
   Hartwig Research Fund
FX This research was supported by the National Institutes of Health and
   National Cancer Institute under award number 5R00CA197672-04, along with
   the University of Michigan's School of Kinesiology Marie Hartwig
   Research Fund. This research utilized the HeLa cell line. Henrietta
   Lacks, and the HeLa cell line that was established from her tumor cells
   without her knowledge or consent in 1951, have made significant
   contributions to scientific progress and advances in human health. We
   are grateful to Henrietta Lacks, now deceased, and to her surviving
   family members for their contributions to biomedical research.
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NR 50
TC 5
Z9 6
U1 0
U2 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0195-9131
EI 1530-0315
J9 MED SCI SPORT EXER
JI Med. Sci. Sports Exerc.
PD JUN
PY 2022
VL 54
IS 6
BP 931
EP 943
DI 10.1249/MSS.0000000000002868
PG 13
WC Sport Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Sport Sciences
GA 1G7KY
UT WOS:000796024100006
PM 35135999
OA Bronze, Green Accepted
DA 2025-04-10
ER

PT J
AU Pinggera, A
   Negro, G
   Tuluc, P
   Brown, MJ
   Lieb, A
   Striessnig, J
AF Pinggera, Alexandra
   Negro, Giulia
   Tuluc, Petronel
   Brown, Morris J.
   Lieb, Andreas
   Striessnig, Jorg
TI Gating defects of disease-causing de novo mutations in
   Cav1.3 Ca<SUP>2+</SUP> channels
SO CHANNELS
LA English
DT Article
DE Aldosterone producing adenomas; autism spectrum disorder; Ca2+ channel;
   CACNA1D; mutation
ID FAMILIAL HEMIPLEGIC MIGRAINE; ALDOSTERONE-PRODUCING ADENOMAS; AUTISM
   SPECTRUM DISORDERS; CALCIUM-CHANNELS; SOMATIC MUTATIONS; SPLICE-VARIANT;
   CACNA1D; CHANNELOPATHIES; DYSFUNCTION; ARRHYTHMIA
AB Recently, we and others identified somatic and germline de novo gain-of-function mutations in CACNA1D, the gene encoding the 1-subunit of voltage-gated Ca(v)1.3 Ca2+-channels. While somatic mutations identified in aldosterone producing adenomas (APAs) underlie treatment-resistant hypertension, germline CACNA1D mutations are associated with a neurodevelopmental disorder characterized by a wide symptomatic spectrum, including autism spectrum disorder. The number of newly identified CACNA1D missense mutations is constantly growing, but their pathogenic potential is difficult to predict in silico, making functional studies indispensable to assess their contribution to disease risk.
   Here we report the functional characterization of previously identified CACNA1D APA mutations F747L and M1354I using whole-cell patch-clamp electrophysiology upon recombinant expression in tsA-201 cells. We also investigated if alternative splicing of Ca(v)1.3 affects the aberrant gating of the previously characterized APA mutation R990H and two mutations associated with autism spectrum disorder (A479G and G407R). Splice-variant dependent gating changes are of particular interest for germline mutations, since the relative expression of Ca(v)1.3 splice variants differs across different tissues and within brain regions and might therefore result in tissue-specific phenotypes. Our data revealed a complex gain-of-function phenotype for APA mutation F747L confirming its pathogenic role. Furthermore, we found splice-variant dependent gating changes in R990H, A749G and G407R. M1354I did not change channel function of Ca(v)1.3 splice variants and should therefore be considered a rare non-pathogenic variant until further proof for its pathogenicity is obtained. Our new findings together with previously published data allow classification of pathogenic CACNA1D mutations into four categories based on prototypical functional changes.
C1 [Pinggera, Alexandra; Negro, Giulia; Tuluc, Petronel; Lieb, Andreas; Striessnig, Jorg] Univ Innsbruck, Inst Pharm, Dept Pharmacol & Toxicol, Innsbruck, Austria.
   [Pinggera, Alexandra; Negro, Giulia; Tuluc, Petronel; Lieb, Andreas; Striessnig, Jorg] Univ Innsbruck, Ctr Mol Biosci, Innsbruck, Austria.
   [Brown, Morris J.] Queen Mary Univ London, William Harvey Res Inst, London, England.
C3 University of Innsbruck; University of Innsbruck; University of London;
   Queen Mary University London
RP Striessnig, J (corresponding author), Univ Innsbruck, Inst Pharm, Dept Pharmacol & Toxicol, Innsbruck, Austria.; Striessnig, J (corresponding author), Univ Innsbruck, Ctr Mol Biosci, Innsbruck, Austria.; Pinggera, A (corresponding author), MRC Lab Mol Biol, Div Neurobiol, Cambridge, England.
EM pinggera@mrc-lmb.cam.ac.uk; joerg.striessnig@uibk.ac.at
RI Tuluc, Petronel/AGD-8132-2022; Striessnig, Joerg/S-9334-2017
OI Negro, Giulia/0000-0002-0466-2269; Striessnig,
   Joerg/0000-0002-9406-7120; Tuluc, Petronel/0000-0003-3660-6138; Lieb,
   Andreas/0000-0001-9567-649X
FU Austrian Science Fund FWF [P 27809] Funding Source: Medline
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NR 44
TC 24
Z9 28
U1 0
U2 2
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1933-6950
EI 1933-6969
J9 CHANNELS
JI Channels
PY 2018
VL 12
IS 1
BP 388
EP 402
DI 10.1080/19336950.2018.1546518
PG 15
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA HB2UM
UT WOS:000450899300002
PM 30465465
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Chen, LP
   Zhang, J
   Wei, XL
   Chen, N
   Huang, CX
   Xu, MX
   Wang, WM
   Wang, HL
AF Chen, Li Ping
   Zhang, Jie
   Wei, Xin Lan
   Chen, Nan
   Huang, Chun Xiao
   Xu, Meng Xia
   Wang, Wei Min
   Wang, Huan Ling
TI Megalobrama amblycephala cardiac troponin T variants: Molecular
   cloning, expression and response to nitrite
SO GENE
LA English
DT Article
DE TNNT2; Megalobrama amblycephala; Alternative splicing; Expression
   profiles; Nitrite exposure
ID FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; DILATED CARDIOMYOPATHY;
   DEVELOPMENTAL EXPRESSION; MEXICAN AXOLOTL; FAILING HEART; GENE;
   MUTATION; ISOFORMS; SARCOMERE; SENSITIVITY
AB Cardiac troponin T (TNNT2), as a member of troponin superfamily, plays important roles during early cardiogenesis, and contraction and relaxation of myocardial cells. In this study, two alternatively spliced variants of Megalobrama amblycephala TNNT2 were identified showing a difference of 19 amino acids in the N-terminal hypervariable region. The longer cDNA (TNNT2-1) was 1118 bp, encoding 284 amino acid residues, contained conserved central tropomyosin-binding region, cardiac specific signal and C-terminal segments except the N-terminal hypervariable region. The TNNT2 transcripts first appeared at 16 hours post-fertilization (hpf) peaking at 28 hpf (onset of heartbeat). In addition, strong expression of TNNT2 was found in the cardiac muscle. After nitrite exposure, the increased TNNT2 expression levels in the heart indicated that nitrite might induce cardiac injury. Results of semi-quantitative RT-PCR indicated that the two alternatively spliced variants existed in early development stages since their first appearance at 16 hpf and heart, spleen, headkiney of M. amblycephala. The shorter transcript (TNNT2-2) was proved to be dominant in the embryos and heart of M. amblycephala, furthermore, the increase of TNNT2 expression level in the heart after nitrite exposure was mainly caused by TNNT2-2. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Chen, Li Ping; Zhang, Jie; Wei, Xin Lan; Chen, Nan; Huang, Chun Xiao; Xu, Meng Xia; Wang, Wei Min; Wang, Huan Ling] Huazhong Agr Univ, Coll Fisheries, Key Lab Agr Anim Genet Breeding & Reprod, Key Lab Freshwater Anim Breeding,Minist Educ, Wuhan 430070, Peoples R China.
C3 Huazhong Agricultural University
RP Wang, HL (corresponding author), Huazhong Agr Univ, Coll Fisheries, Key Lab Agr Anim Genet Breeding & Reprod, Key Lab Freshwater Anim Breeding,Minist Educ, Wuhan 430070, Peoples R China.
EM hbauwhl@hotmail.com
RI Wang, Weimin/L-7870-2018
FU Program for New Century Excellent Talents in University [NCET-10-0403];
   Fundamental Research Funds for the Central Universities [2011PY072,
   2010PY004]
FX This research was supported by Program for New Century Excellent Talents
   in University (NCET-10-0403), the Fundamental Research Funds for the
   Central Universities (2011PY072, 2010PY004).
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NR 40
TC 3
Z9 4
U1 0
U2 12
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD SEP 25
PY 2013
VL 527
IS 2
BP 558
EP 564
DI 10.1016/j.gene.2013.05.089
PG 7
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 210YW
UT WOS:000323872300020
PM 23816406
DA 2025-04-10
ER

PT J
AU Streckfuss-Bömeke, K
   Tiburcy, M
   Fomin, A
   Luo, XJ
   Li, W
   Fischer, C
   Özcelik, C
   Perrot, A
   Sossalla, S
   Haas, J
   Vidal, RO
   Rebs, S
   Khadjeh, S
   Meder, B
   Bonn, S
   Linke, WA
   Zimmerrnann, WH
   Hasenfuss, G
   Guan, KM
AF Streckfuss-Boemeke, Katrin
   Tiburcy, Malte
   Fomin, Andrey
   Luo, Xiaojing
   Li, Wener
   Fischer, Claudia
   Oezcelik, Cemil
   Perrot, Andreas
   Sossalla, Samuel
   Haas, Jan
   Vidal, Ramon Oliveira
   Rebs, Sabine
   Khadjeh, Sara
   Meder, Benjamin
   Bonn, Stefan
   Linke, Wolfgang A.
   Zimmerrnann, Wolfram-Hubertus
   Hasenfuss, Gerd
   Guan, Kaomei
TI Severe DCM phenotype of patient harboring RBM20 mutation S635A can be
   modeled by patient-specific induced pluripotent stem cell-derived
   cardiomyocytes
SO JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
LA English
DT Article
DE RNA-binding motif protein 20 (RBM20); Induced pluripotent stem cells
   (iPSCs); Cardiomyocytes; Dilated cardiomyopathy (DCM); Alternative
   splicing; Titin (TTN)
ID TITIN ISOFORM; DILATED CARDIOMYOPATHY; EXPRESSION; MATURATION;
   STIFFNESS; GENE; MYOCARDIUM; DISRUPTION
AB The ability to generate patient-specific induced pluripotent stem cells (iPSCs) provides a unique opportunity for modeling heart disease in vitro. In this study, we generated iPSCs from a patient with dilated cardiomyopathy (DCM) caused by a missense mutation S635A in RNA-binding motif protein 20 (RBM20) and investigated the functionality and cell biology of cardiomyocytes (CMs) derived from patient-specific iPSCs (RBM20-iPSCs). The RBM20-iPSC-CMs showed abnormal distribution of sarcomeric a-actinin and defective calcium handling compared to control-iPSC-CMs, suggesting disorganized myofilament structure and altered calcium machinery in CMs of the RBM20 patient. Engineered heart muscles (EHMs) from RBM20-iPSC-CMs showed that not only active force generation was impaired in RBM20-EHMs but also passive stress of the tissue was decreased, suggesting a higher visco-elasticity of RBM20-EHMs. Furthermore, we observed a reduced titin (TIN) N2B-isoform expression in RBM20-iPSC-CMs by demonstrating a reduction of exon skipping in the PEVK region of TTN and an inhibition of TIN isoform switch. In contrast, in control-iPSC-CMs both TIN isoforms N2B and N2BA were expressed, indicating that the ITN isoform switch occurs already during early cardiogenesis. Using next generation RNA sequencing, we mapped transcriptome and splicing target profiles of RBM20-iPSC-CMs and identified different cardiac gene networks in response to the analyzed RBM20 mutation in cardiac-specific processes. These findings shed the first light on molecular mechanisms of RBM20-dependent pathological cardiac remodeling leading to DCM. Our data demonstrate that iPSC-CMs coupled with EHMs provide a powerful tool for evaluating disease-relevant functional defects and for a deeper mechanistic understanding of alternative splicing-related cardiac diseases.
C1 [Streckfuss-Boemeke, Katrin; Fischer, Claudia; Sossalla, Samuel; Rebs, Sabine; Khadjeh, Sara; Hasenfuss, Gerd; Guan, Kaomei] Univ Med Gottingen, Dept Cardiol & Pneumol, Gottingen, Germany.
   [Streckfuss-Boemeke, Katrin; Tiburcy, Malte; Fomin, Andrey; Fischer, Claudia; Sossalla, Samuel; Khadjeh, Sara; Linke, Wolfgang A.; Zimmerrnann, Wolfram-Hubertus; Hasenfuss, Gerd] DZHK German Ctr Cardiovasc Res, Partner Site Gottingen, Gottingen, Germany.
   [Tiburcy, Malte; Zimmerrnann, Wolfram-Hubertus] Univ Med Gottingen, Inst Pharmacol & Toxicol, Gottingen, Germany.
   [Fomin, Andrey; Linke, Wolfgang A.] Ruhr Univ Bochum, Dept Cardiovasc Physiol, Bochum, Germany.
   [Luo, Xiaojing; Li, Wener; Guan, Kaomei] Tech Univ Dresden, Inst Pharmacol & Toxicol, Fetscherstr 74, D-01307 Dresden, Germany.
   [Oezcelik, Cemil; Perrot, Andreas] Charite Univ Med Berlin, Cardiovasc Genet Expt & Clin Res Ctr, Berlin, Germany.
   [Oezcelik, Cemil] Knappschaftskrankenhaus Recklingshausen, Med Klin Kardiol Gastroenterol & Diabetol 1, Recklingshausen, Germany.
   [Sossalla, Samuel] Univ Med Ctr Regensburg, Dept Internal Med Cardiol 2, Regensburg, Germany.
   [Haas, Jan; Meder, Benjamin] Heidelberg Univ, Dept Cardiol, Heidelberg, Germany.
   [Haas, Jan; Meder, Benjamin] DZHK, Partner Site Heidelberg, Heidelberg, Germany.
   [Vidal, Ramon Oliveira; Bonn, Stefan] German Ctr Neurodegenerat Dis, Gottingen, Germany.
   [Vidal, Ramon Oliveira; Bonn, Stefan] German Ctr Neurodegenerat Dis, Tubingen, Germany.
   [Bonn, Stefan] Univ Clin Hamburg Eppendorf, Inst Med Syst Biol, Ctr Mol Neurobiol, Hamburg, Germany.
C3 University of Gottingen; German Centre for Cardiovascular Research;
   University of Gottingen; Ruhr University Bochum; Technische Universitat
   Dresden; Berlin Institute of Health; Free University of Berlin; Humboldt
   University of Berlin; Charite Universitatsmedizin Berlin; University of
   Regensburg; Ruprecht Karls University Heidelberg; German Centre for
   Cardiovascular Research; Helmholtz Association; German Center for
   Neurodegenerative Diseases (DZNE); Helmholtz Association; German Center
   for Neurodegenerative Diseases (DZNE); Eberhard Karls University of
   Tubingen; Eberhard Karls University Hospital; University of Hamburg;
   University Medical Center Hamburg-Eppendorf
RP Guan, KM (corresponding author), Tech Univ Dresden, Inst Pharmacol & Toxicol, Fetscherstr 74, D-01307 Dresden, Germany.
EM kaomei.guan@tu-dresden.de
RI Streckfuß-Bömeke, Katrin/H-1375-2016; Linke, Wolfgang/IXD-9988-2023; Li,
   Wener/AAW-5655-2020; Sossalla, Samuel/AAF-3611-2020; Guan,
   Kaomei/G-8882-2018
OI Guan, Kaomei/0000-0002-0753-3083; Perrot, Andreas/0000-0002-8800-342X;
   Linke, Wolfgang/0000-0003-0801-3773; Bonn, Stefan/0000-0003-4366-5662;
   Sossalla, Samuel/0000-0001-8034-2673; Rebs, Sabine/0000-0002-9504-0261
FU Bundesministerium fur Bildung and Forschung (BMBF) grant e:Bio - Modul
   II - Verbundprojekt: CaRNAtion [031L0075C]; German Center for
   Cardiovascular Research (DZHK) [81X2300106]; Heidenreich von Siebold
   Program from the University Medical Center Gottingen; German Research
   Foundation [SFB1002, 595/3-1]
FX This work was supported by the Bundesministerium fur Bildung and
   Forschung (BMBF) grant e:Bio - Modul II - Verbundprojekt: CaRNAtion
   [031L0075C to K.G., K.S.-B., and G.H.], the German Center for
   Cardiovascular Research (DZHK) [81X2300106 to K.G. and B.M.], the
   Heidenreich von Siebold Program from the University Medical Center
   Gottingen (K.S.-B.), and the German Research Foundation [SFB1002 to
   K.G., W.A.L., W.H.Z., and G.H. and GU 595/3-1 to K.G.].
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NR 40
TC 67
Z9 76
U1 0
U2 16
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0022-2828
EI 1095-8584
J9 J MOL CELL CARDIOL
JI J. Mol. Cell. Cardiol.
PD DEC
PY 2017
VL 113
BP 9
EP 21
DI 10.1016/j.yjmcc.2017.09.008
PG 13
WC Cardiac & Cardiovascular Systems; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Cell Biology
GA FL6VG
UT WOS:000414383700002
PM 28941705
OA Green Accepted, hybrid, Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Charlet-B, N
   Logan, P
   Singh, G
   Cooper, TA
AF Charlet-B, N
   Logan, P
   Singh, G
   Cooper, TA
TI Dynamic antagonism between ETR-3 and PTB regulates cell type-specific
   alternative splicing
SO MOLECULAR CELL
LA English
DT Article
ID TRACT-BINDING-PROTEIN; PRE-MESSENGER-RNA; TROPONIN-T GENE;
   MYOTONIC-DYSTROPHY; 3'-SPLICE-SITE SELECTION; EXON; ENHANCER;
   EXPRESSION; SITES; INCLUSION
AB Inclusion of cardiac troponin T (cTNT) exon 5 in embryonic muscle requires conserved flanking intronic elements (MSEs). ETR-3, a member of the CELF family, binds U/G motifs in two MSEs and directly activates exon inclusion in vitro. Binding and activation by ETR-3 are directly antagonized by polypyrimidine tract binding protein (PTB). We use dominant-negative mutants to demonstrate that endogenous CELF and PTB activities are required for MSE-dependent activation and repression in muscle and nonmuscle cells, respectively. Combined use of CELF and PTB dominant-negative mutants provides an in vivo demonstration that antagonistic splicing activities exist within the same cells. We conclude that cell-specific regulation results from the dominance of one among actively competing regulatory states rather than modulation of a nonregulated default state.
C1 Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
   Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine
RP Cooper, TA (corresponding author), Baylor Coll Med, Dept Pathol, 1 Baylor Plaza, Houston, TX 77030 USA.
EM tcooper@bcm.tmc.edu
RI Charlet-Berguerand, Nicolas/GZM-6636-2022; Charlet-Berguerand,
   Nicolas/I-6727-2016
OI Charlet-Berguerand, Nicolas/0000-0002-4423-4920
FU NHLBI NIH HHS [R01HL45565] Funding Source: Medline
CR Audic Y, 1998, MOL CELL BIOL, V18, P6879, DOI 10.1128/MCB.18.12.6879
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NR 36
TC 155
Z9 176
U1 1
U2 8
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 1097-2765
J9 MOL CELL
JI Mol. Cell
PD MAR
PY 2002
VL 9
IS 3
BP 649
EP 658
DI 10.1016/S1097-2765(02)00479-3
PG 10
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 537QA
UT WOS:000174769300021
PM 11931771
OA Bronze
DA 2025-04-10
ER

PT J
AU Kiczak, L
   Paslawska, U
   Bania, J
   Ugorski, M
   Sambor, I
   Kochman, A
   Blach, J
   Chelmonska-Soyta, A
AF Kiczak, Liliana
   Paslawska, Urszula
   Bania, Jacek
   Ugorski, Maciej
   Sambor, Izabela
   Kochman, Agata
   Blach, Joanna
   Chelmonska-Soyta, Anna
TI Increased expression of interleukin-1β and its novel splice variant in
   canine hearts with volume overload
SO CYTOKINE
LA English
DT Article
DE CDVD; Interleukin-1 beta; Alternative splicing; Canine heart
ID MYOCARDIAL-INFARCTION; NITRIC-OXIDE; MODULATION; FAILURE;
   IDENTIFICATION; HYPERTROPHY; MOLECULES; CYTOKINES; PROTEINS; GENE
AB Volume overload frequently caused in dogs by chronic degenerative valvular disease (CDVD), eventually leads to cardiac failure. Experimental and clinical evidences demonstrate that increased interleukin-1 beta serum level in patients with heart insufficiency correlates with the severity of failure irrespective of its etiology. Very little is known about the IL-1 beta expression in failing vs. non-failing myocardium. IL-1 beta transcript level was determined in the CDVD dogs (n = 17) and control animals (n = 9) without cardiac insufficiency by real-time PCR. IL-1 beta transcript level in failing hearts was higher than in the control. In both groups the highest IL-1 beta level was detected in the left ventricles. Although IL-1 beta is a major pro-inflammatory cytokine most of the CDVD dogs displayed no inflammatory infiltrates into the myocardium. Massive fibrosis was observed in the control group, unlike the failing hearts, in which cardiomyocyte hypertrophy and atrophy dominated. The alternative IL-1 beta transcript identified here (IL-1 beta svl) was significantly elevated in the failing myocardium compared with the control group. Increased IL-1 beta expression seems to be associated with mechanical heart overload. Its endogenous origin, and certain histopathological findings attributed to IL-1 beta indicate its importance in cardiac hypertrophy and failure. The lack of some typical IL-1 beta actions, i.e. inflammatory, pyrogenic and fibrotic, may suggest a different role of this cytokine in myocardium. It appears that the canine IL-1 beta gene can be transcribed in two ways in heart tissue, with the IL-1 beta sv1 form present mainly in failing hearts. (C) 2008 Elsevier Ltd. All rights reserved.
C1 [Kiczak, Liliana; Ugorski, Maciej; Sambor, Izabela] Wroclaw Univ Environm & Life Sci, Dept Biochem Pharmacol & Toxicol, Fac Vet Med, PL-50375 Wroclaw, Poland.
   [Paslawska, Urszula] Wroclaw Univ Environm & Life Sci, Fac Vet Med, Dept Internal & Parasit Dis, Clin Horses Dogs & Cats, PL-50375 Wroclaw, Poland.
   [Bania, Jacek] Wroclaw Univ Environm & Life Sci, Fac Vet Med, Dept Food Hyg & Consumer Protect, PL-50375 Wroclaw, Poland.
   [Blach, Joanna; Chelmonska-Soyta, Anna] Wroclaw Univ Environm & Life Sci, Fac Vet Med, Dept Immunol, PL-50375 Wroclaw, Poland.
   [Kochman, Agata] Wroclaw Med Univ, Dept Pathol Anat, Wroclaw, Poland.
C3 Wroclaw University of Environmental & Life Sciences; Wroclaw University
   of Environmental & Life Sciences; Wroclaw University of Environmental &
   Life Sciences; Wroclaw University of Environmental & Life Sciences;
   Wroclaw Medical University
RP Kiczak, L (corresponding author), Wroclaw Univ Environm & Life Sci, Dept Biochem Pharmacol & Toxicol, Fac Vet Med, PL-50375 Wroclaw, Poland.
EM liliana.kiczak@up.wroc.pl
RI Bania, Jacek/S-5633-2016; Ugorsku, Maciej/AAJ-1050-2020; Paslawska,
   Urszula/S-7691-2016
OI Ugorski, Maciej/0000-0003-0299-8372
FU Polish Ministry of Science and Higher Education [3 P06K 040 24]
FX This study was supported by Polish Ministry of Science and Higher
   Education Project No. 3 P06K 040 24.
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NR 45
TC 10
Z9 12
U1 0
U2 2
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 1043-4666
EI 1096-0023
J9 CYTOKINE
JI Cytokine
PD DEC
PY 2008
VL 44
IS 3
BP 352
EP 360
DI 10.1016/j.cyto.2008.10.002
PG 9
WC Biochemistry & Molecular Biology; Cell Biology; Immunology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology; Immunology
GA 397WG
UT WOS:000262692300006
PM 19008121
DA 2025-04-10
ER

PT J
AU Carlston, CM
   Bleyl, SB
   Andrews, A
   Meyers, L
   Brown, S
   Bayrak-Toydemir, P
   Bale, JF
   Botto, LD
AF Carlston, Colleen M.
   Bleyl, Steven B.
   Andrews, Ashley
   Meyers, Lindsay
   Brown, Sara
   Bayrak-Toydemir, Pinar
   Bale, James F.
   Botto, Lorenzo D.
TI Expanding the genetic and clinical spectrum of the NONO-associated
   X-linked intellectual disability syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE Ebstein anomaly; left ventricular noncompaction; NONO; splicing variant;
   syndromic intellectual disability
ID NON-COMPACTION; SPLICE; CARDIOMYOPATHY; MUTATIONS; FEATURES; SERVER
AB The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss-of-function NONO variants have been associated with syndromic intellectual disability and with left ventricular noncompaction (LVNC). A two-year-old boy presented to the University of Utah's Penelope Undiagnosed Disease Program with developmental delay, nonfamilial features, relative macrocephaly, and dilated cardiomyopathy with LVNC and Ebstein anomaly. Brain MRI showed a thick corpus callosum, mild Chiari I malformation, and a flattened pituitary. Exome sequencing identified a novel intronic deletion (c.154+5_154+6delGT) in the NONO gene. Splicing studies demonstrated intron 4 read-through and the use of an alternative donor causing the frameshift p.Asn52Serfs*6. Family segregation analysis showed that the variant occurred de novo in the boy's unaffected mother. MRI and endocrine findings suggest that hypopituitarism may contribute to growth failure, abnormal thyroid hormone levels, cryptorchidism, or delayed puberty in patients with NONO-associated disease. Also, including this case LVNC has been observed in five out of eight patients, and this report also confirms an association between loss of NONO and Ebstein anomaly. In some cases, unrelated individuals share the same pathogenic NONO variants but do not all have clinically significant LVNC, suggesting that additional modifiers may contribute to cardiac phenotypes.
C1 [Carlston, Colleen M.; Bayrak-Toydemir, Pinar] Univ Utah, Dept Pathol, Salt Lake City, UT USA.
   [Carlston, Colleen M.; Brown, Sara; Bayrak-Toydemir, Pinar] ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA.
   [Bleyl, Steven B.; Meyers, Lindsay] Univ Utah, Div Pediat Cardiol, Salt Lake City, UT USA.
   [Andrews, Ashley; Botto, Lorenzo D.] Univ Utah, Div Med Genet, Salt Lake City, UT USA.
   [Bale, James F.] Univ Utah, Dept Pediat Neurol, Salt Lake City, UT USA.
C3 Utah System of Higher Education; University of Utah; Utah System of
   Higher Education; University of Utah; ARUP Laboratories; Utah System of
   Higher Education; University of Utah; Utah System of Higher Education;
   University of Utah; Utah System of Higher Education; University of Utah
RP Carlston, CM (corresponding author), Univ Calif San Francisco, Sch Med, 513 Parnassus Ave,S245, San Francisco, CA 94143 USA.
EM colleen.carlston@ucsf.edu
RI Bayrak-Toydemir, Pinar/GQP-9466-2022
OI Meyers, Lindsay/0000-0002-0323-6145; , Lindsay/0009-0007-6745-724X
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NR 18
TC 22
Z9 24
U1 1
U2 6
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD MAY
PY 2019
VL 179
IS 5
BP 792
EP 796
DI 10.1002/ajmg.a.61091
PG 5
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA HY7IL
UT WOS:000468308100007
PM 30773818
DA 2025-04-10
ER

PT J
AU Clemens, D
   Tester, DJ
   Marty, I
   Ackerman, MJ
AF Clemens, Daniel
   Tester, David J.
   Marty, Isabelle
   Ackerman, Michael J.
TI Phenotype-guided whole genome analysis in a patient with genetically
   elusive long QT syndrome yields a novel TRDN-encoded triadin
   pathogenetic substrate for triadin knockout syndrome and reveals a novel
   primate-specific cardiac TRDN transcript
SO HEART RHYTHM
LA English
DT Article
DE Arrhythmia; Cardiac arrest; Genetics; Pediatrics; Triadin
ID SKELETAL-MUSCLE; MOLECULAR-CLONING; CALSEQUESTRIN; LOCALIZATION;
   ISOFORM; PROTEIN; ARREST
AB BACKGROUND Triadin knockout syndrome (TKOS) is a rare arrhythmia syndrome caused by recessive null variants in TRDN-encoded cardiac triadin 1. TKOS has presented frequently with cardiac arrest in childhood.
   OBJECTIVE The purpose of this study was to elucidate the underlying genetic mechanism of disease in a genetically elusive patient displaying a characteristic TKOS phenotype.
   METHODS Genome sequencing and a TRDN gene-specific trio analysis were completed on the patient. RNA and protein isolated from patient-specific human-induced pluripotent stem cell-derived cardiomyocytes were used to determine the effects of the identified variants using reverse transcription polymerase chain reaction (RT-PCR) and Western blot.
   RESULTS Genome sequencing revealed compound heterozygous putative splice-error variants (maternal c.22129A.G and paternal c.48411189G.A). The novel paternally derived c.48411189G.A variant is located within 24 base pairs of a predicted alternative exon 6 (exon 6a), which resides within the intron between canonical exons 5 and 6. We determined that this previously unrecognized exon 6a produces a short TRDN transcript and potentially a novel protein isoform in the normal human heart. The c.48411189G.A variant not only results in abnormal splicing of the exon 6a-containing transcript leading to a frameshift mutation but also results in the abolishment of the 8-exon cardiac triadin 1 transcript.
   CONCLUSION Here, we present evidence for a novel alternative exon 6a-containing TRDN transcript in the normal heart. The novel deep intronic TRDN variant identified in a patient with TKOS leads to splicing error of a newly recognized exon 6a and loss of triadin. Considering that both TRDN variants in this patient were missed after commercial testing, these results highlight the importance of using genome sequencing when identifying patients with TKOS.
C1 [Clemens, Daniel; Tester, David J.; Ackerman, Michael J.] Mayo Clin, Windland Smith Rice Sudden Death Genom Lab, Dept Mol Pharmacol & Expt Therapeut, Guggenheim 501,200 First St SW, Rochester, MN 55905 USA.
   [Tester, David J.; Ackerman, Michael J.] Mayo Clin, Div Heart Rhythm Serv, Dept Cardiovasc Med, Rochester, MN 55905 USA.
   [Marty, Isabelle] Univ Grenoble Alpes, Grenoble Inst Neurosci, CHU Grenoble Alpes, U1216,INSERM, Grenoble, France.
   [Ackerman, Michael J.] Mayo Clin, Div Pediat Cardiol, Dept Pediat & Adolescent Med, Rochester, MN USA.
C3 Mayo Clinic; Mayo Clinic; CHU Grenoble Alpes; Institut National de la
   Sante et de la Recherche Medicale (Inserm); Communaute Universite
   Grenoble Alpes; Universite Grenoble Alpes (UGA); Mayo Clinic
RP Ackerman, MJ (corresponding author), Mayo Clin, Windland Smith Rice Sudden Death Genom Lab, Dept Mol Pharmacol & Expt Therapeut, Guggenheim 501,200 First St SW, Rochester, MN 55905 USA.
EM ackerman.michael@mayo.edu
RI Marty, Isabelle/ABF-5362-2020
OI Marty, Isabelle/0000-0003-3625-913X
FU Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death
   Program
FX This work was supported by the Mayo Clinic Windland Smith Rice
   Comprehensive Sudden Cardiac Death Program. Dr Ackerman is a consultant
   for Audentes Therapeutics, Biotronik, Boston Scientific, Daiichi Sankyo,
   Gilead Sciences, Invitae, Medtronic, MyoKardia, and St. Jude Medical. Dr
   Ackerman and Mayo Clinic are involved in an equity/royalty relationship
   with AliveCor, Blue Ox Health Corporation, and StemoniX. These
   relationships are all modest, and none of these entities have
   contributed to this study in any manner. The rest of the authors report
   no conflicts of interest.
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NR 23
TC 10
Z9 12
U1 0
U2 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA STE 800, 230 PARK AVE, NEW YORK, NY 10169 USA
SN 1547-5271
EI 1556-3871
J9 HEART RHYTHM
JI Heart Rhythm
PD JUN
PY 2020
VL 17
IS 6
BP 1017
EP 1024
DI 10.1016/j.hrthm.2020.01.012
PG 8
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA LV4ME
UT WOS:000538410600017
PM 32402482
DA 2025-04-10
ER

PT J
AU Lu, GY
   Liu, ST
   Huang, SM
   Chang, YL
   Lin, WS
AF Lu, Guan-Yu
   Liu, Shu-Ting
   Huang, Shih-Ming
   Chang, Yung-Lung
   Lin, Wei-Shiang
TI Multiple effects of digoxin on subsets of cancer-associated genes
   through the alternative splicing pathway
SO BIOCHIMIE
LA English
DT Article
DE Digoxin; Cardiac glycosides; Alternative splicing; SRSF3; Drug
   repositioning
ID EXOGENOUS CARDIAC-GLYCOSIDES; MESSENGER-RNA; CELL-DEATH; SRP20; P53;
   SRSF3; METABOLISM; MECHANISMS; EXPRESSION; DIGITOXIN
AB The signaling characteristics of Na+/K+-ATPase are distinct from its ion pumping activity. Cardiac glycosides modulate the Na+/K+-ATPase protein complex upon binding, activate downstream signaling pathways and increase [Ca2+](i). Recent studies demonstrate that the depletion of p53 and hypoxia-induced factor 1 alpha proteins is caused by cardiac glycosides. However, the detailed mechanisms governing this process are not well known. In this study, we showed that the depletion of p53 proteins by digoxin involved not only inhibition of protein synthesis but also inhibition at the post-transcriptional level. Post-transcriptional regulation occurs via down-regulation of SRSF3, the primary splicing factor responsible for the switch from p53 alpha to the p53 beta isoform. Digoxin also modulated G2/M arrest, DNA damage and apoptosis through the p53-dependent pathway in HeLa cells. In addition, digoxin was involved in epithelial-mesenchymal-transition progression via E-cadherin reduction and snail induction. Digoxin had similar effects to caffeine, another SRSF3-reduced agent, on the cell cycle profile and DNA damage of cells. Interestingly, combined digoxin and caffeine treatment blocked cell cycle progression and conferred resistance to cell death via snail induction. These findings demonstrate that down-regulation of splicing factor, such as SRSF3, to alter cell cycle progression, cell death and invasion is a potential target for the drug repositioning of cardiac glycosides. (C) 2014 Elsevier B.V. and Societe francaise de biochimie et biologie Moleculaire (SFBBM). All rights reserved.
C1 [Lu, Guan-Yu; Lin, Wei-Shiang] Natl Def Med Ctr, Grad Inst Med Sci, Taipei 114, Taiwan.
   [Lu, Guan-Yu] Kuang Tien Gen Hosp, Shalu Div, Dept Pharm, Taichung 433, Taiwan.
   [Liu, Shu-Ting; Huang, Shih-Ming; Chang, Yung-Lung] Natl Def Med Ctr, Dept Biochem, Taipei 114, Taiwan.
   [Lin, Wei-Shiang] Natl Def Med Ctr, Triserv Gen Hosp, Dept Med, Div Cardiol, Taipei 114, Taiwan.
C3 National Defense Medical Center; National Defense Medical Center;
   National Defense Medical Center; Tri-Service General Hospital
RP Lin, WS (corresponding author), Natl Def Med Ctr, TSGH, Dept Med, Div Cardiol, 325,Sec 2,Chenggong Rd, Taipei 114, Taiwan.
EM shihming@ndmctsgh.edu.tw; wslin545@ms27.hinet.net
RI Lin, Wei-Shiang/ABA-7928-2020; Liu, Shuting/AAE-5381-2020
FU National Defense Medical Bureau [MAB-102-39, MAB-102-35]; Tri-Service
   General Hospital, Taiwan, ROC [TSGH-C101-031]
FX This work was supported by grants from the National Defense Medical
   Bureau [MAB-102-39 to S-M HUANG and MAB-102-35 to W-S LIN] and the
   Tri-Service General Hospital [TSGH-C101-031 to W-S LIN], Taiwan, ROC.
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NR 35
TC 32
Z9 33
U1 1
U2 9
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI ISSY-LES-MOULINEAUX
PA 65 RUE CAMILLE DESMOULINS, CS50083, 92442 ISSY-LES-MOULINEAUX, FRANCE
SN 0300-9084
EI 1638-6183
J9 BIOCHIMIE
JI Biochimie
PD NOV
PY 2014
VL 106
BP 131
EP 139
DI 10.1016/j.biochi.2014.08.013
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA AS7KI
UT WOS:000344434700016
PM 25193633
DA 2025-04-10
ER

PT J
AU Finley, J
AF Finley, Jahahreeh
TI Alteration of splice site selection in the LMNA gene and inhibition of
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SO MEDICAL HYPOTHESES
LA English
DT Article
ID HUTCHINSON-GILFORD-PROGERIA; PROTEIN-KINASE; MESSENGER-RNA; LAMIN-A;
   P-32 PROTEIN; MITOCHONDRIAL BIOGENESIS; OXIDATIVE STRESS;
   BINDING-PROTEIN; SKELETAL-MUSCLE; MOTOR-NEURON
AB Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by an accelerated aging phenotype and an average life span of 13 years. Patients typically exhibit extensive pathophysiological vascular alterations, eventually resulting in death from stroke or myocardial infarction. A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has been shown to be the cause of most cases of HGPS. Interestingly, this mutation induces the use of an internal 5' cryptic splice site within exon 11 of the LMNA pre-mRNA, leading to the generation of progerin via aberrant alternative splicing. The serine-arginine rich splicing factor 1 (SRSF1 or ASF/SF2) has been shown to function as an oncoprotein and is upregulated in many cancers and other age-related disorders. Indeed, SRSF1 inhibition results in a splicing ratio in the LMNA pre-mRNA favoring lamin A production over that of progerin. It is our hypothesis that activation of AMP-activated protein kinase (AMPK), a master regulator of cellular metabolism, may lead to a reduction in SRSF1 and thus a decrease in the use of the LMNA 5' cryptic splice site in exon 11 through upregulation of p32, a splicing factor-associated protein and putative mitochondrial chaperone that has been shown to inhibit SRSF1 and enhance mitochondria! DNA (mtDNA) replication and oxidative phosphorylation. AMPK activation by currently available compounds such as metformin, resveratrol, and berberine may thus have wide-ranging implications for disorders associated with increased production and accumulation of progerin. (C) 2014 Elsevier Ltd. All rights reserved.
C1 Finley BioSci, Houston, TX 77042 USA.
RP Finley, J (corresponding author), Finley BioSci, 9900 Richmond Ave,823, Houston, TX 77042 USA.
EM jfinley4@johnshopkins.edu
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NR 131
TC 12
Z9 14
U1 0
U2 21
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
   LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD NOV
PY 2014
VL 83
IS 5
BP 580
EP 587
DI 10.1016/j.mehy.2014.08.016
PG 8
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA AT8KG
UT WOS:000345181700015
PM 25216752
DA 2025-04-10
ER

PT J
AU Huang, ZH
   Myhr, C
   Bathgate, RAD
   Ho, BA
   Bueno, A
   Hu, X
   Xiao, JB
   Southall, N
   Barnaeva, E
   Agoulnik, IU
   Marugan, JJ
   Ferrer, M
   Agoulnik, AI
AF Huang, Zaohua
   Myhr, Courtney
   Bathgate, Ross A. D.
   Ho, Brian A.
   Bueno, Amaya
   Hu, Xin
   Xiao, Jingbo
   Southall, Noel
   Barnaeva, Elena
   Agoulnik, Irina U.
   Marugan, Juan J.
   Ferrer, Marc
   Agoulnik, Alexander I.
TI Activation of relaxin family receptor 1 from different mammalian species
   by relaxin peptide and small-molecule agonist ML290
SO FRONTIERS IN ENDOCRINOLOGY
LA English
DT Article
DE relaxin; G protein-coupled receptor; RXFP1; receptor structure-function;
   small-molecule allosteric agonist
ID LEUCINE-RICH REPEAT; PROTEIN-COUPLED RECEPTOR-7; RABBIT PLACENTAL
   RELAXIN; CLASS-A MODULE; SPLICE VARIANTS; PHYSIOLOGICAL ROLES;
   IDENTIFICATION; GENE; PURIFICATION; EXPRESSION
AB Relaxin peptide (RLN), which signals through the relaxin family peptide 1 (RXFP1) GPCR receptor, has shown therapeutic effects in an acute heart failure clinical trial. We have identified a small-molecule agonist of human RXFP1, ML290; however, it does not activate the mouse receptor. To find a suitable animal model for ML290 testing and to gain mechanistic insights into the interaction of various ligands with RXFP1, we have cloned rhesus macaque, pig, rabbit, and guinea pig RXFP1s and analyzed their activation by RLN and ML290. HEK293T cells expressing macaque or pig RXFP1 responded to relaxin and ML290 treatment as measured by an increase of cAMP production. Guinea pig RXFP1 responded to relaxin but had very low response to ML290 treatment only at highest concentrations used. The rabbit RXFP1 amino acid sequence was the most divergent, with a number of unique substitutions within the ectodomain and the seven-transmembrane domain (7TM). Two splice variants of rabbit RXFP1 derived through alternative splicing of the fourth exon were identified. In contrast to the other species, rabbit RXFP1s were activated by ML290, but not with human, pig, mouse, or rabbit RLNs. Using FLAG-tagged constructs, we have shown that both rabbit RXFP1 variants are expressed on the cell surface. No binding of human Eu-labeled RLN to rabbit RXFP1 was detected, suggesting that in this species, RXFP1 might be non-functional. We used chimeric rabbit human and guinea pig human constructs to identify regions important for RLN or ML290 receptor activation. Chimeras with the human ectodomain and rabbit 7TM domain were activated by RLN, whereas substitution of part of the guinea pig 7TM domain with the human sequence only partially restored ML290 activation, confirming the allosteric mode of action for the two ligands. Our data demonstrate that macaque and pig models can be used for ML290 testing.
C1 [Huang, Zaohua; Myhr, Courtney; Ho, Brian A.; Bueno, Amaya; Agoulnik, Alexander I.] Florida Int Univ, Herbert Wertheim Coll Med, Dept Human & Mol Genet, 11200 SW 8th St,AHCI 419B, Miami, FL 33199 USA.
   [Bathgate, Ross A. D.] Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Dept Biochem & Mol Biol, Melbourne, Vic, Australia.
   [Hu, Xin; Xiao, Jingbo; Southall, Noel; Barnaeva, Elena; Marugan, Juan J.; Ferrer, Marc] NIH, Chem Genom Ctr, Natl Ctr Advancing Translat Sci, Rockville, MD USA.
   [Agoulnik, Irina U.] Florida Int Univ, Herbert Wertheim Coll Med, Dept Cellular Biol & Pharmacol, 11200 SW 8th St,AHCI 419B, Miami, FL 33199 USA.
C3 State University System of Florida; Florida International University;
   Florey Institute of Neuroscience & Mental Health; University of
   Melbourne; National Institutes of Health (NIH) - USA; NIH National
   Center for Advancing Translational Sciences (NCATS); State University
   System of Florida; Florida International University
RP Agoulnik, AI (corresponding author), Florida Int Univ, Herbert Wertheim Coll Med, Dept Human & Mol Genet, 11200 SW 8th St,AHCI 419B, Miami, FL 33199 USA.
EM aagoulni@fiu.edu
RI Bathgate, Ross/ABE-6471-2020; Agoulnik, Irina/AAD-4687-2020; Agoulnik,
   Alexander/AAK-3213-2020; Southall, Noel/H-8991-2012; Bathgate,
   Ross/F-3525-2014
OI Agoulnik, Irina/0000-0003-4889-0324; Southall, Noel/0000-0003-4500-880X;
   Agoulnik, Alexander/0000-0001-6587-6845; Ho, Brian/0000-0002-8395-6643;
   Bathgate, Ross/0000-0001-6301-861X
FU Florida Department of Health; James and Esther King Biomedical Research
   Program [3KFO1]; National Cancer Institute grant [1U01CA177711];
   National Health and Medical Research Council of Australia [628427,
   1043750]; Victorian Government Operational Infrastructure Support
   Program; NHMRC; MARC U*STAR program fellowship at the Florida
   International University
FX The authors thank Dr. O. David Sherwood, University of Illinois, for
   providing porcine relaxin; Prof. John D. Wade, Florey Institute of
   Neuroscience and Mental Health, Melbourne, VIC, Australia, for providing
   mouse relaxin peptide; Corthera, Inc. (San Mateo, CA, USA) for providing
   recombinant human relaxin and Sharon Layfield and Tania Ferraro for
   technical assistance with studies at the Florey and Shashank Pawitwar
   and Supurna Dhar for their help in cloning rabbit and guinea pig
   receptors. This research was supported by Florida Department of Health,
   James and Esther King Biomedical Research Program grant 3KFO1, and
   National Cancer Institute grant 1U01CA177711 (AA). Research at the
   Florey was supported by National Health and Medical Research Council of
   Australia project grants 628427 and 1043750 and by the Victorian
   Government Operational Infrastructure Support Program. RADB is a
   recipient of an NHMRC Research Fellowship. BH is a recipient of a MARC
   U*STAR program fellowship at the Florida International University.
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NR 29
TC 18
Z9 20
U1 0
U2 10
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-2392
J9 FRONT ENDOCRINOL
JI Front. Endocrinol.
PD AUG 17
PY 2015
VL 6
AR 128
DI 10.3389/fendo.2015.00128
PG 12
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA DP3MQ
UT WOS:000378398700001
PM 26347712
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Holden, S
   Cox, J
   Raymond, FL
AF Holden, S
   Cox, J
   Raymond, FL
TI Cloning, genomic organization, alternative splicing and expression
   analysis of the human gene RWK3 (PRKWNK3)
SO GENE
LA English
DT Article
DE chromosome xp 11.22; WNK kinase; tissue-specific splicing; syntenic
   region
ID WNK KINASES; INHERITED HYPERTENSION; MENTAL-RETARDATION;
   PROTEIN-KINASES; BLOOD-PRESSURE; MUTATIONS; FAMILY; DOMAIN; CL;
   HYPERKALEMIA
AB We report the isolation of a full length coding WNK3 cDNA from human fetal brain. The WNK3 transcript has an open reading frame of 5403 nucleotides and encodes a putative protein of 1800 amino acids. The human WNK3 gene comprises 24 exons and lies within a 559 kb genomic segment on chromosome Xp11.22 which has conserved synteny with a 705 kb genomic segment of human chromosome 9q22.31 which contains WNK2. The WNK3 transcript is expressed in several human fetal and adult tissues and has at least two splice isoforms generated by the alternative splicing of exon 18 and exon 22 which maintain the open reading frame. Usage of exon 18b is restricted to brain and introduces an additional 47 amino acids into the predicted protein. The predicted WNK3 protein has a similar structural organization to the other human WNK kinases. Significant homology between these proteins is confined to three conserved regions of their amino acid sequences which we have designated CRI, CR2 and CR3. CRI and CR3 contain highly conserved residues which have been shown to be important for the normal function of WNK1 and WNK4, and CR2 contains a highly conserved 22 amino acid motif specific to chordate species. WNK3 lies within the critical linkage interval for several human monogenic disorders, including X-linked mental retardation. The function of mammalian WNK3 kinase remains to be investigated. (C) 2004 Elsevier B.V. All rights reserved.
C1 Addenbrookes Hosp, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 2XY, England.
C3 University of Cambridge; Cambridge University Hospitals NHS Foundation
   Trust; Addenbrooke's Hospital
RP Addenbrookes Hosp, Cambridge Inst Med Res, Dept Med Genet, Box 139,Hills Rd, Cambridge CB2 2XY, England.
EM flr24@cam.ac.uk
RI Raymond, F/F-4018-2010; Cox, James/R-1910-2016
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NR 26
TC 52
Z9 61
U1 0
U2 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD JUN 23
PY 2004
VL 335
BP 109
EP 119
DI 10.1016/j.gene.2004.03.009
PG 11
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 834TR
UT WOS:000222434300010
PM 15194194
DA 2025-04-10
ER

PT J
AU Shukla, S
   Fisher, SA
AF Shukla, Supriya
   Fisher, Steven A.
TI Tra2β As a Novel Mediator of Vascular Smooth Muscle Diversification
SO CIRCULATION RESEARCH
LA English
DT Article
DE transformer; smooth muscle; phenotype; exon splicing; myosin phosphatase
ID PRE-MESSENGER-RNA; PHOSPHATASE TARGETING SUBUNIT-1; MYOSIN PHOSPHATASE;
   DROSOPHILA-MELANOGASTER; DIFFERENTIATION; TRANSFORMER-2; EXPRESSION;
   EVOLUTION; ELEMENTS; ISOFORM
AB Transformer splicing regulatory proteins determine the sexually dimorphic traits of Drosophila. The role of the vertebrate homologs of Tra-2 in phenotypic specification is undefined. We are using the alternative splicing of the MYPT1 E23 exon as a model for the study of smooth muscle diversification into fast and slow contractile phenotypes. Tra2 beta mRNA and protein is expressed at up to 10-fold higher levels in fast smooth muscle tissues such as the rat portal vein and small mesenteric artery, in which E23 is spliced, as compared to the slow smooth muscle tissues of the large arteries and veins, in which E23 is skipped. Tra2 beta is upregulated up to 10-fold concordant with the initiation of E23 splicing as the rat portal vein and avian gizzard implement the fast program of gene expression in the perinatal period. In disease models such as portal hypertension and mesenteric artery high/low flow, the portal vein and first order mesenteric artery dynamically downregulate Tra2 beta concordant with a shift to E23 skipping and the slow program of gene expression. Tra2 beta binds to a highly conserved sequence within E23 and transactivates its splicing in vitro and in vivo; this is abolished with mutation or deletion of this sequence. RNA interference-mediated knockdown of Tra2 beta markedly reduces E23 splicing. We propose that Tra2 beta has been conserved through evolution and redeployed for the specification of the fast smooth muscle phenotype and may serve as a novel nodal point for the investigation of this process in developmental and disease models. (Circ Res. 2008; 103: 485-492.)
C1 [Shukla, Supriya; Fisher, Steven A.] Case Western Reserve Sch Med, Dept Med Cardiol, Cleveland, OH USA.
   [Fisher, Steven A.] Case Western Reserve Sch Med, Dept Physiol & Biophys, Cleveland, OH USA.
C3 University System of Ohio; Case Western Reserve University; University
   System of Ohio; Case Western Reserve University
RP Fisher, SA (corresponding author), 4-533 Wolstein Res Bldg,2103 Cornell Rd, Cleveland, OH 44106 USA.
EM steven.fisher@case.edu
RI fisher, steven/G-2630-2010; Shukla, Supriya/AHE-5535-2022
OI Shukla, Supriya/0000-0001-7441-6306
FU NIH [RO1 HL-66171]
FX This work was supported by NIH grant RO1 HL-66171 (to S. A. F.).
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NR 34
TC 27
Z9 29
U1 0
U2 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD AUG 29
PY 2008
VL 103
IS 5
BP 485
EP 492
DI 10.1161/CIRCRESAHA.108.178384
PG 8
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 343HX
UT WOS:000258845200008
PM 18669920
OA Green Submitted, Green Accepted
DA 2025-04-10
ER

PT J
AU Temprano-Sagrera, G
   Peypoch, O
   Soto, B
   Dilmé, J
   Juscafresa, LC
   Davtian, D
   Estadella, MD
   Nieto, L
   Brown, A
   Escudero, JR
   Viñuela, A
   Camacho, M
   Sabater-Lleal, M
AF Temprano-Sagrera, Gerard
   Peypoch, Olga
   Soto, Begona
   Dilme, Jaume
   Juscafresa, Laura Calsina
   Davtian, David
   Estadella, Mireia de la Rosa
   Nieto, Lluis
   Brown, Andrew
   Escudero, Jose Roman
   Vinuela, Ana
   Camacho, Mercedes
   Sabater-Lleal, Maria
TI Differential Expression Analyses on Human Aortic Tissue Reveal Novel
   Genes and Pathways Associated With Abdominal Aortic Aneurysm Onset and
   Progression
SO JOURNAL OF THE AMERICAN HEART ASSOCIATION
LA English
DT Article
DE abdominal aortic aneurysm; allele-specific expression; alternative
   splicing; differential expression; transcriptomics
ID RNA-SEQ; MITOCHONDRIAL DYSFUNCTION; THROMBOSPONDIN-1; PATHOGENESIS;
   VALIDATION; MECHANISMS; DISEASE; COHORT; CELLS
AB Background Abdominal aortic aneurysms (AAAs) are focal dilatations of the abdominal aorta that expand progressively, increasing their risk of rupture. Rupture of an AAA is associated with high mortality rates, but the mechanisms underlying the initiation, expansion, and rupture of AAAs are not yet fully understood. We aimed to characterize the pathophysiology of AAAs and identify new genes associated with AAA initiation and progression.Methods and Results This study used RNA sequencing data on 140 samples, becoming the largest RNA sequencing data set for differential expression studies of AAAs. We performed differential expression analyses and analyses of differential splicing between dilated and nondilated aortic tissue samples, and between AAAs of different diameters. We identified 3002 differentially expressed genes between AAAs and controls that were independent of ischemic time, 1425 of which were new. Additionally, 8 genes (EXTL3, ZFR, DUSP8, DISP1, USP33, VPS37C, ZNF784, RFX1) were differentially expressed between AAAs of varying diameters and between AAAs and control samples. Finally, 7 genes (SPP1, FHL1, GNAS, MORF4L2, HMGN1, ARL1, RNASE4) with differential splicing patterns were also differentially expressed genes between AAAs and controls, suggesting that splicing differences in these genes may contribute to the observed expression changes and disease development.Conclusions This study identifies new genes and splicing patterns associated with AAAs and validates previous relevant pathways on AAAs. These findings contribute to the understanding of the complex mechanisms underlying AAAs and may provide potential targets to limit AAA progression and mortality risk.
C1 [Temprano-Sagrera, Gerard; Peypoch, Olga; Soto, Begona; Dilme, Jaume; Estadella, Mireia de la Rosa; Escudero, Jose Roman; Camacho, Mercedes; Sabater-Lleal, Maria] Inst Recerca St Pau IR St PAU, Unit Genom Complex Dis, St Quinti 77-79, Barcelona 08041, Spain.
   [Peypoch, Olga; Soto, Begona; Dilme, Jaume; Escudero, Jose Roman] Hosp Santa Creu & Sant Pau, Serv Angiol & Cirurgia Vasc Endovasc, Barcelona, Spain.
   [Dilme, Jaume; Camacho, Mercedes] Ctr Invest Biomed Red Enfermedades Cardiovasc CIBE, Madrid, Spain.
   [Juscafresa, Laura Calsina; Nieto, Lluis] Hosp Mar, Dept Vasc & Endovasc Surg, Barcelona, Spain.
   [Juscafresa, Laura Calsina] Univ Pompeu Fabra, Dept Med & Surg, Barcelona, Spain.
   [Davtian, David; Brown, Andrew] Univ Dundee, Ninewells Hosp, Populat Hlth & Genom, Dundee, Scotland.
   [Davtian, David; Brown, Andrew] Univ Dundee, Med Sch, Dundee, Scotland.
   [Vinuela, Ana] Univ Newcastle, Biosci Inst, Fac Med Sci, Newcastle Upon Tyne, England.
   [Sabater-Lleal, Maria] Karolinska Inst, Dept Med, Cardiovasc Med Unit, Stockholm, Sweden.
   [Sabater-Lleal, Maria] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain.
C3 Hospital of Santa Creu i Sant Pau; CIBER - Centro de Investigacion
   Biomedica en Red; CIBERCV; Hospital del Mar Research Institute; Hospital
   del Mar; Pompeu Fabra University; University of Dundee; University of
   Dundee; Newcastle University - UK; Karolinska Institutet; CIBER - Centro
   de Investigacion Biomedica en Red; CIBERER
RP Sabater-Lleal, M (corresponding author), Inst Recerca St Pau IR St PAU, Unit Genom Complex Dis, St Quinti 77-79, Barcelona 08041, Spain.
EM msabater@santpau.cat
RI de la Rosa Estadella, Mireia/HTR-2072-2023; Camacho,
   Mercedes/MGT-8224-2025; Viñuela, Ana/L-5015-2019; Lleal,
   Maria/I-5832-2013; Calsina-Juscafresa, Laura/AAA-8031-2019
OI de la Rosa Estadella, Mireia/0000-0002-1384-4590; Nieto Fernandez,
   Lluis/0009-0002-5744-9266; Sabater Lleal, Maria/0000-0002-0128-379X;
   Soto Carricas, Begona/0000-0002-5965-1292; Dilme,
   Jaume/0000-0003-0127-0064; Temprano-Sagrera, Gerard/0000-0001-6136-8915;
   Calsina Juscafresa, Laura/0000-0002-8140-7800; Vinuela,
   Ana/0000-0003-3771-8537; Peypoch, Olga/0000-0002-9795-5553
FU Spanish Ministry of Science and Innovation [PID2019- 109844RB-I00];
   Instituto de Salud Carlos III, Ministerio de Ciencia e Innovacion;
   Instituto de Salud Carlos III; European Regional Development Fund; Pla
   Estrategic de Recerca i Innovacio en Salut grant from the Catalan
   Department of Health for junior research personnel [SLT017/20/000100];
   Miguel Servet contract from the Instituto de Salud Carlos III Spanish
   Health Institute [CPII22/00007]; European Social Fund; Tenovus Scotland
   Research PhD studentship [T19- 06]
FX This work was supported by a grant from the Spanish Ministry of Science
   and Innovation (PID2019- 109844RB-I00). The genotyping service was
   carried out at the Genotyping Unit-CEGEN in the Spanish National Cancer
   Research Centre, supported by Instituto de Salud Carlos III, Ministerio
   de Ciencia e Innovacion. CEGEN is part of the initiative IMPaCT-
   GENoMICA (IMP/00009) cofunded by the Instituto de Salud Carlos III and
   the European Regional Development Fund. G. Temprano- Sagrera is
   supported by the Pla Estrategic de Recerca i Innovacio en Salut grant
   from the Catalan Department of Health for junior research personnel
   (SLT017/20/000100). Dr Sabater-Lleal is supported by a Miguel Servet
   contract from the Instituto de Salud Carlos III Spanish Health Institute
   (CPII22/00007) and cofinanced by the European Social Fund. Dr Davtian
   was funded by a Tenovus Scotland Research PhD studentship, T19- 06.
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NR 74
TC 1
Z9 1
U1 1
U2 1
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
EI 2047-9980
J9 J AM HEART ASSOC
JI J. Am. Heart Assoc.
PD DEC 17
PY 2024
VL 13
IS 24
AR e036082
DI 10.1161/JAHA.124.036082
PG 16
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA P6A7M
UT WOS:001378719400001
PM 39655704
OA Green Published
DA 2025-04-10
ER

PT J
AU Domingues, AMD
   Neugebauer, KM
   Fern, R
AF Domingues, Antonio M. de Jesus
   Neugebauer, Karla M.
   Fern, Robert
TI Identification of four functional NR3B isoforms in developing white
   matter reveals unexpected diversity among glutamate receptors
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Article
DE glia; glutamate; NMDA; neurotransmitter; splicing isoform; white matter
ID D-ASPARTATE RECEPTORS; NMDA RECEPTOR; ISCHEMIC-INJURY; EXON 5; SUBUNIT;
   EXPRESSION; ASTROCYTES; AXONS; GLIA; OLIGODENDROCYTES
AB P>Functional neurotransmitter receptors are expressed in central white matter, where they mediate ischemic damage to glia and may be involved in cell-cell signalling. In this study, we analysed NMDA receptor NR1, NR2B-C and NR3A-B subunit expression in the brain and optic nerve by molecular cloning. In addition to the canonical forms of NR1 and NR2, four previously unknown NR3B variants, generated by alternative splicing, were identified. The variants encoded for isoforms with deletions of 8/15 amino acids in the N-terminal domain or 200/375 amino acids removing one or three transmembrane domains and part of the C-terminal domain, as compared with the previously characterized NR3B isoform. Co-expression of NR3B isoforms with NR1/NR2A-C modulated the amplitude and Mg2+-sensitivity of glutamate responses in a NR2 subunit-dependent fashion, with significant variations in the effects produced by different isoforms. These effects were not the result of reduced surface expression of the receptor complex since all NR3B isoforms reduced surface expression by a similar degree. These data reveal previously uncharacterized regulation of NMDA receptor function by alternative splicing of the NR3B subunit.
C1 [Domingues, Antonio M. de Jesus; Fern, Robert] Univ Leicester, Dept Cell Physiol & Pharmacol, Leicester LE1 9HN, Leics, England.
   [Domingues, Antonio M. de Jesus; Neugebauer, Karla M.] Max Planck Inst Mol Cell Biol & Genet, Dresden, Germany.
C3 University of Leicester; Max Planck Society
RP Fern, R (corresponding author), Univ Leicester, Dept Cell Physiol & Pharmacol, POB 138,Univ Rd, Leicester LE1 9HN, Leics, England.
EM rf34@leicester.ac.uk
OI de Jesus Domingues, Antonio Miguel/0000-0002-1803-1863; fern,
   robert/0000-0002-0625-3434
FU NIH [NS44875]; Max Planck Society
FX The authors would like to thank Minna-Liisa Anko (MPI-CBG, Germany) for
   helpful discussions and comments of the manuscript, Ina Nuesslein
   (MPI-CBG, Germany) for technical assistance with FACS, Dr Luo (Zhejiang
   University School of Medicine, China) for the NMDA receptor plasmids and
   Dr Tsien (University of California, USA) for the mCherry plasmid. This
   work was supported by funds from NIH (NS44875 to RF) and the Max Planck
   Society (to KMN).
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NR 44
TC 12
Z9 15
U1 0
U2 3
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
EI 1471-4159
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2011
VL 117
IS 3
BP 449
EP 460
DI 10.1111/j.1471-4159.2011.07212.x
PG 12
WC Biochemistry & Molecular Biology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 749KJ
UT WOS:000289464500009
PM 21320125
DA 2025-04-10
ER

PT J
AU Rosskopf, D
   Manthey, I
   Habich, C
   Kielbik, M
   Eisenhardt, A
   Nikula, C
   Urban, M
   Kohnen, S
   Graf, E
   Ravens, U
   Siffert, W
AF Rosskopf, D
   Manthey, I
   Habich, C
   Kielbik, M
   Eisenhardt, A
   Nikula, C
   Urban, M
   Kohnen, S
   Graf, E
   Ravens, U
   Siffert, W
TI Identification and characterization of Gβ3s2, a novel splice variant of
   the G-protein β3 subunit
SO BIOCHEMICAL JOURNAL
LA English
DT Article
DE GNB3; G-protein beta subunit; hypertension; pharmacogenetics;
   polymorphism; signal transduction
ID 825T ALLELE; GENE GNB3; C825T POLYMORPHISM; WD-REPEAT; ETHNIC
   DISTRIBUTION; HUMAN NEUTROPHILS; GAMMA-SUBUNIT; ASSOCIATION;
   HYPERTENSION; RISK
AB The T-allele of a polymorphism (C825T) in the gene for the G-protein 3 subunit (GNB3) is associated with cardiovascular and metabolic disorders, distinct cellular features and altered drug responses. The molecular mechanisms that give rise to this complex phenotype have been linked to the occurrence of Gbeta3s, a splice variant of GNB3. Gbeta3s is predominantly expressed in cells with the 825T-allele. In the present study we describe the identification and characterization of an additional G,83 splice variant referred to as Gbeta3s2. Its mRNA is expressed in heart, blood cells and tumour tissue, and its expression is also tightly associated with the GNB3 825T-allele. Gbeta3s2 is generated by alternative splicing using non-canonical splice sites. Gbeta subunits belong to the family of propeller proteins and consist of seven regular propeller blades. Transcripts for Gbeta3s2 are lacking 129 bp of the coding sequence of the wild-type Gbeta3 protein. Thus the predicted structure consists of only six propeller blades, which resembles the structure of Gbeta3s. Co-immunoprecipitation analyses indicated that Gfbetas2 dimerizes with different Ggamma subunits, e.g. Gy5, Gy8, and Ggamma12. In Sf9 insect cells, expression of Gbeta3s2 together with Ggamma12 enhances receptor-stimulated activation of Galpha(12). Expression of Gbeta3s2 in mammalian cells activated the mitogen-activated protein kinase cascade. Together, these results suggest that Gbeta3s2 is a biologically active Gbeta variant which may play a role in the manifestation of the complex phenotype associated with the 825T-allele.
C1 Univ Essen Gesamthsch Klinikum, Inst Pharmakol, D-45122 Essen, Germany.
   Tech Univ Dresden, Inst Pharmakol & Toxikol, Med Fak Carl Gustav Carus, D-01307 Dresden, Germany.
C3 University of Duisburg Essen; Technische Universitat Dresden; Carl
   Gustav Carus University Hospital
RP Univ Essen Gesamthsch Klinikum, Inst Pharmakol, D-45122 Essen, Germany.
EM dieter.rosskopf@uni-essen.de
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NR 51
TC 39
Z9 42
U1 0
U2 0
PU PORTLAND PRESS LTD
PI LONDON
PA 5TH FLR, 90 HIGH HOLBORN, LONDON WC1V 6LJ, ENGLAND
SN 0264-6021
EI 1470-8728
J9 BIOCHEM J
JI Biochem. J.
PD APR 1
PY 2003
VL 371
BP 223
EP 232
DI 10.1042/BJ20021208
PN 1
PG 10
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 666KU
UT WOS:000182177100024
PM 12431187
OA Green Accepted, Green Published
DA 2025-04-10
ER

PT J
AU Dai, ZQ
   Wu, F
   Yeung, EW
   Li, YH
AF Dai, Zhongquan
   Wu, Feng
   Yeung, Ella W.
   Li, Yinghui
TI IGF-IEc expression, regulation and biological function in different
   tissues
SO GROWTH HORMONE & IGF RESEARCH
LA English
DT Review
DE IGF-I; MGF; Alternative splicing; Mechanical stimuli; Skeletal muscle;
   Tissue protection
ID MECHANO-GROWTH-FACTOR; I SPLICE VARIANT; STEM CELL ACTIVATION; E PEPTIDE
   ACTIONS; SKELETAL-MUSCLE; GENE-EXPRESSION; CARDIAC-FUNCTION; MGF;
   ISOFORM; RESISTANCE
AB Insulin-like growth factor I (IGF-I) is an important growth factor for embryonic development, postnatal growth, tissue repair and maintenance of homeostasis. IGF-I functions and regulations are complex and tissue-specific. IGF-I mediates growth hormone signaling to target tissues during growth, but many IGF-I variants have been discovered, resulting in complex models to describe IGF-I function and regulation. Mechano-growth factor (MGF) is an alternative splicing variant of IGF-I and serves as a local tissue repair factor that responds to changes in physiological conditions or environmental stimuli. MGF expression is significantly increased in muscle, bone and tendon following damage resulting from mechanical stimuli and in the brain and heart following ischemia. MGF has been shown to activate satellite cells in muscle resulting in hypertrophy or regeneration, and functions as a neuroprotectant in brain ischemia. Both expression and processing of this IGF-I variant are tissue specific, but the functional mechanism is poorly understood. MGF and its short derivative have been examined as a potential therapy for muscular dystrophy and cerebral hypoxia-ischemia using experimental animals. Although the unique mode of action of MGF has been identified, the details remain elusive. Here we review the expression and regulation of MGF and the function of this IGF-I isoform in tissue protection. (C) 2010 Growth Hormone Research Society. Published by Elsevier Ltd. All rights reserved.
C1 [Dai, Zhongquan; Wu, Feng; Li, Yinghui] China Astronaut Res & Training Ctr, State Key Lab Space Med Fundamentals & Applicat, Beijing 100094, Peoples R China.
   [Dai, Zhongquan; Yeung, Ella W.] Hong Kong Polytech Univ, Dept Rehabil Sci, Muscle Physiol Lab, Kowloon, Hong Kong, Peoples R China.
C3 Hong Kong Polytechnic University
RP Li, YH (corresponding author), POX 5132-23,26 Beiqing Rd, Beijing 100094, Peoples R China.
EM daizhq77@163.com; rsella@polyu.edu.hk; yinghuidd@vip.sina.com
RI Zhongquan, Dai/AAF-9331-2020; Yeung, Ella/D-6672-2011; Wu,
   Feng/AAK-1151-2021
OI Yeung, Ella/0000-0002-6396-1146
FU National Basic Research Program of China (973 Program) [2006CB705704];
   National Natural Science Foundation of China [30870589]; Advanced Space
   Medico-Engineering Research Project of China [SJ200809]
FX This work was supported by the National Basic Research Program of China
   (973 Program) (No.2006CB705704); the National Natural Science Foundation
   of China (30870589) and the Advanced Space Medico-Engineering Research
   Project of China (SJ200809).
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NR 68
TC 63
Z9 77
U1 0
U2 18
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
   LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 1096-6374
EI 1532-2238
J9 GROWTH HORM IGF RES
JI Growth Horm. IGF Res.
PD AUG
PY 2010
VL 20
IS 4
BP 275
EP 281
DI 10.1016/j.ghir.2010.03.005
PG 7
WC Cell Biology; Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Endocrinology & Metabolism
GA 643AT
UT WOS:000281265300001
PM 20494600
DA 2025-04-10
ER

PT J
AU Liao, P
   Yu, D
   Li, G
   Yong, TF
   Soon, JL
   Chua, YL
   Soong, TW
AF Liao, Ping
   Yu, Dejie
   Li, Guang
   Yong, Tan Fong
   Soon, Jia Lin
   Chua, Yeow Leng
   Soong, Tuck Wah
TI A smooth muscle Cav1.2 calcium channel splice variant
   underlies hyperpolarized window current and enhanced state-dependent
   inhibition by nifedipine
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID ALPHA(1C) SUBUNIT; ALPHA-1 SUBUNIT; CA2+ CHANNEL; FUNCTIONAL EXPRESSION;
   ISOFORM; INACTIVATION; SENSITIVITY; SELECTIVITY; ANTAGONISTS; ISRADIPINE
AB Native smooth muscle L-type Ca(v)1.2 calcium channels have been shown to support a fraction of Ca2+ currents with a window current that is close to resting potential. The smooth muscle L-type Ca2+ channels are also more susceptible to inhibition by dihydropyridines (DHPs) than the cardiac channels. It was hypothesized that smooth muscle Cav1.2 channels exhibiting hyperpolarized shift in steady-state inactivation would contribute to larger inhibition by DHP, in addition to structural differences of the channels generated by alternative splicing that modulate DHP sensitivities. In addition, it has also been shown that alternative splicing modulates DHP sensitivities by generating structural differences in the Cav1.2 channels. Here, we report a smooth muscle L-type Cav1.2 calcium channel splice variant, Ca(v)1.2SM (1/8/9*/32/Delta 33), that when expressed in HEK 293 cells display hyperpolarized shifts for steady-state inactivation and activation potentials when compared with the established Ca(v)1.2b clone ( 1/8/9*/32/Delta 33). This variant activates from more negative potentials and generates a window current closer to resting membrane potential. We also identified the predominant cardiac isoform Ca(v)1.2CM clone ( 1a/8a/Delta 9*/32/33) that is different from the established Ca(v)1.2a (1a/8a/Delta 9*/31/33). Importantly, Cav1.2SM channels were shown to be more sensitive to nifedipine blockade than Cav1.2b and cardiac Cav1.2CM channels when currents were recorded in either 5 mM Ba2+ or 1.8 mM Ca2+ external solutions. This is the first time that a smooth muscle Cav1.2 splice variant has been identified functionally to possess biophysical property that can be linked to enhanced state-dependent block by DHP.
C1 Natl Univ Singapore, Dept Physiol, Yong Loo Lin Sch Med, Singapore 117597, Singapore.
   Natl Heart Ctr, Dept Cardiothorac Surg, Singapore 168752, Singapore.
   Natl Inst Neurosci, Singapore 308433, Singapore.
   Johns Hopkins Univ, Dept Biomed Engn, Baltimore, MD 21205 USA.
C3 National University of Singapore; National Heart Centre Singapore;
   National Neuroscience Institute (NNI); Johns Hopkins University
RP Soong, TW (corresponding author), Natl Univ Singapore, Dept Physiol, Yong Loo Lin Sch Med, Block MD9,2 Med Dr, Singapore 117597, Singapore.
EM phsstw@nus.edu.sg
RI Liao, Ping/LBI-1504-2024
OI Liao, Ping/0000-0002-6205-4042
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NR 43
TC 93
Z9 102
U1 0
U2 11
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD NOV 30
PY 2007
VL 282
IS 48
BP 35133
EP 35142
DI 10.1074/jbc.M705478200
PG 10
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 234IR
UT WOS:000251155200058
PM 17916557
OA hybrid
DA 2025-04-10
ER

PT J
AU Nasim, MT
   Chernova, TK
   Chowdhury, HM
   Yue, BG
   Eperon, IC
AF Nasim, MT
   Chernova, TK
   Chowdhury, HM
   Yue, BG
   Eperon, IC
TI HnRNP G and Tra2β:: opposite effects on splicing matched by antagonism
   in RNA binding
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MOTOR-NEURON SMN; MESSENGER-RNA; HUMAN SPERMATOGENESIS; EXON-7
   INCLUSION; PREMESSENGER RNA; 5'-SPLICE SITES; PROTEIN-PROTEIN;
   MAMMALIAN-CELLS; Y-CHROMOSOME; SR PROTEINS
AB The hnRNP G family comprises three closely related proteins, hnRNP G, RBMY and hnRNP G-T. We showed previously that they interact with splicing activator proteins, particularly hTra2beta, and suggested that they were involved in regulating Tra2-dependent splicing. We show here that hnRNP G and hTra2beta have opposite effects upon the incorporation of several exons, both being able to act as either an activator or a repressor. HnRNP G acts via a specific sequence to repress the skeletal muscle-specific exon (SK) of human slow skeletal alpha-tropomyosin, TPM3, and stimulates inclusion of the alternative non-muscle exon. The binding of hnRNP G to the exon is antagonized by hTra2beta. The two proteins also have opposite effects upon a dystrophin pseudo-exon. This exon is incorporated in a patient to a higher level in heart muscle than skeletal muscle, causing X-linked dilated cardiomyopathy. It is included to a higher level after transfection of a mini-gene into rodent cardiac myoblasts than into skeletal muscle myoblasts. Co-transfection with hnRNP G represses incorporation in cardiac myoblasts, whereas hTra2beta increases it in skeletal myoblasts. Both the cell specificity and the protein responses depend upon exon sequences. Since the ratio of hnRNP G to Tra2beta mRNA in humans is higher in skeletal muscle than in heart muscle, we propose that the hnRNP G/Tra2beta ratio contributes to the cellular splicing preferences and that the higher proportion of hnRNP G in skeletal muscle plays a role in preventing the incorporation of the pseudo-exon and thus in preventing skeletal muscle dystrophy.
C1 Univ Leicester, Dept Biochem, Leicester LE1 7RH, Leics, England.
C3 University of Leicester
RP Eperon, IC (corresponding author), Univ Leicester, Dept Biochem, Leicester LE1 7RH, Leics, England.
RI Eperon, Ian/E-8799-2011
OI Eperon, Ian/0000-0002-4903-1911; Nasim, Talat/0000-0003-1968-5663
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NR 43
TC 84
Z9 95
U1 0
U2 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD JUN 1
PY 2003
VL 12
IS 11
BP 1337
EP 1348
DI 10.1093/hmg/ddg136
PG 12
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 684YA
UT WOS:000183233000014
PM 12761049
OA Bronze
DA 2025-04-10
ER

PT J
AU Dhayan, H
   Baydoun, AR
   Kukol, A
AF Dhayan, Hansraj
   Baydoun, Anwar R.
   Kukol, Andreas
TI G-quadruplex formation of FXYD1 pre-mRNA indicates the possibility of
   regulating expression of its protein product
SO ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
LA English
DT Article
DE G-quadruplex; Pre-mRNA; Splicing; Sodium-pump; Fluorescence;
   Bioinformatics
ID TRANSLATION REGULATION; CRYSTAL-STRUCTURE; DOWN-REGULATION; HUMAN
   TELOMERE; PHOSPHOLEMMAN; DNA; PHOSPHORYLATION; SEQUENCE; STABILIZATION;
   FLUORESCENCE
AB G-quadruplexes are higher-order nucleic acid structures formed of square-planar arrangements of four guanine bases held together by Hoogsteen-type hydrogen bonds. Stacks of guanine tetrads are stabilised by intercalating potassium ions. FXYD1 encodes for phospholemman, a regulatory subunit of the cardiac Na+/K+-ATPase. Computational sequence analysis of FXYD1 pre-mRNA predicted the formation of stable intramolecular G-quadruplexes in human and orthologue sequences. Multiple sequence alignment indicated that G-rich sequences are conserved in evolution suggesting a potential role of G-quadruplexes in FXYD1 gene expression. The existence of a non-functional alternative splicing product indicated that the G-quadruplex formation may control alternative splicing. Quadruplex formation of human and bovine oligonucleotides was confirmed in vitro by native polyacrylamide gel electrophoresis and intrinsic fluorescence emission spectroscopy. Taking together the evolutionary conservation of G-quadruplex forming sequences with the confirmation of G-quadruplex formation in vitro by two FXYD1 homologues the results point to a potential role of these structures in regulating the expression of FXYD1 and thus regulate indirectly the activity of the cardiac Na+/K+-ATPase. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Dhayan, Hansraj; Baydoun, Anwar R.; Kukol, Andreas] Univ Hertfordshire, Sch Life & Med Sci, Hatfield AL10 9AB, Herts, England.
C3 University of Hertfordshire
RP Kukol, A (corresponding author), Univ Hertfordshire, Sch Life & Med Sci, Hatfield AL10 9AB, Herts, England.
EM a.kukol@herts.ac.uk
RI Dhayan, Hansraj/ABD-1585-2021; Kukol, Andreas/AAR-4569-2020
OI Baydoun, Anwar/0000-0002-9701-2985; Kukol, Andreas/0000-0002-8859-010X;
   Dhayan, Hansraj/0000-0003-1263-3350
FU School of Life and Medical Sciences at the University of Hertfordshire,
   United Kingdom
FX This work was partially funded by the School of Life and Medical
   Sciences at the University of Hertfordshire, United Kingdom.
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NR 41
TC 8
Z9 8
U1 0
U2 18
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA STE 800, 230 PARK AVE, NEW YORK, NY 10169 USA
SN 0003-9861
EI 1096-0384
J9 ARCH BIOCHEM BIOPHYS
JI Arch. Biochem. Biophys.
PD OCT 15
PY 2014
VL 560
BP 52
EP 58
DI 10.1016/j.abb.2014.07.016
PG 7
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA AP9JG
UT WOS:000342395500007
PM 25051342
OA Green Submitted
DA 2025-04-10
ER

PT J
AU Kern, P
   Kolowos, W
   Hagenhofer, M
   Frank, C
   Kalden, JR
   Herrmann, M
AF Kern, P
   Kolowos, W
   Hagenhofer, M
   Frank, C
   Kalden, JR
   Herrmann, M
TI Alternatively spliced mRNA molecules of the thrombospondin receptor
   (CD36) in human PBMC
SO EUROPEAN JOURNAL OF IMMUNOGENETICS
LA English
DT Article
ID GLYCOPROTEIN-IV CD36; MEMBRANE GLYCOPROTEIN; SCAVENGER RECEPTORS;
   FUNCTIONAL DOMAIN; GENE FAMILY; SR-BI; IDENTIFICATION; BINDING;
   EXPRESSION; ADHESION
AB We employed reverse transcription polymerase chain reaction (RT-PCR) to detect alternatively spliced CD36 mRNA in human peripheral blood mononuclear cells (PBMC). Sequencing of cloned cDNA revealed alternatively spliced mRNA molecules in 13 out of 39 clones. We observed exon skipping of up to 10 out of 12 coding exons in eight alternative transcripts. Additionally, in five of the transcripts, alternative splice donor or acceptor sites were used during mRNA maturation. Considering the CD36 molecule serves many functions in coagulation, host defence, lipid metabolism, and scavenging, we speculate that the proteins encoded by the alternatively spliced mRNA molecules may be involved in regulation of both CD36 gene expression and function.
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C1 Univ Erlangen Nurnberg, Inst Clin Immunol & Rheumatol, Dept Internal Med 3, D-91054 Erlangen, Germany.
C3 University of Erlangen Nuremberg
RP Univ Erlangen Nurnberg, Inst Clin Immunol, Krankenhausstr 12, D-91054 Erlangen, Germany.
RI Herrmann, Martin/A-9597-2013
OI Herrmann, Martin/0000-0002-0258-2484
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NR 34
TC 12
Z9 12
U1 0
U2 0
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0960-7420
J9 EUR J IMMUNOGENET
JI Eur. J. Immunogenet.
PD OCT
PY 1999
VL 26
IS 5
BP 337
EP 342
DI 10.1046/j.1365-2370.1999.00167.x
PG 6
WC Genetics & Heredity; Immunology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity; Immunology
GA 249ND
UT WOS:000083338400004
PM 10553499
DA 2025-04-10
ER

PT J
AU Ou, SW
   Kameyama, A
   Hao, LY
   Horiuchi, M
   Minobe, E
   Wang, WY
   Makita, N
   Kameyama, M
AF Ou, SW
   Kameyama, A
   Hao, LY
   Horiuchi, M
   Minobe, E
   Wang, WY
   Makita, N
   Kameyama, M
TI Tetrodotoxin-resistant Na<SUP>+</SUP> channels in human neuroblastoma
   cells are encoded by new variants of Nav1.5/SCN5A
SO EUROPEAN JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE alternative splicing; NB-1 cells; neuron; patch clamp
ID GATED SODIUM-CHANNEL; MESSENGER-RNA; GENOMIC ORGANIZATION;
   FUNCTIONAL-ANALYSIS; RAT; BRAIN; MOUSE; EXPRESSION; CURRENTS; GENE
AB Both tetrodotoxin-sensitive (TTX-S) and TTX-resistant (TTX-R) voltage-dependent Na+ channels are expressed in the human neuroblastoma cell line NB-1, but a gene encoding the TTX-R Na+ channel has not been identified. In this study, we have cloned cDNA encoding the a subunit of the TTX-R Na+ channel in NB-1 cells and designated it hNbR1. The longest open reading frame of hNbR1 ( accession no. AB158469) encodes 2016 amino acid residues. Sequence analysis has indicated that hNbR1 is highly homologous with human cardiac Nav1.5/SCN5A with > 99% amino acid identity. The presence of a cysteine residue (Cys373) in the pore-loop region of domain I is consistent with the supposition that hNbR1 is resistant to TTX. Analysis of the genomic sequence of SCN5A revealed a new exon encoding S3 and S4 of domain I ( exon 6A). In addition, an alternative splicing variant, lacking exon 18, that encodes 54 amino acids in the intracellular loop between domains II and III was found (hNbR1-2; accession no. AB158470). Na+ currents in human embryonic kidney cells (HEK293) transfected with hNbR1 or hNbR1-2 showed electrophysiological properties similar to those for TTX-R I-Na in NB-1 cells. The IC50 for the TTX block was approximate to 8 mu M in both variants. These results suggest that SCN5A has a newly identified exon for alternative splicing and is more widely expressed than previously thought.
C1 Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Physiol, Kagoshima 8908544, Japan.
   China Med Univ, Affiliated Hosp 1, Dept Neurosurg, Shenyang 110001, Peoples R China.
   Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, Kagoshima 8908544, Japan.
   Hokkaido Univ, Grad Sch Med, Dept Cardiovasc Med, Kita Ku, Sapporo, Hokkaido 0608638, Japan.
C3 Kagoshima University; China Medical University; Kagoshima University;
   Hokkaido University
RP Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Physiol, 8-35-1 Sakuragaoka, Kagoshima 8908544, Japan.
EM kame@m.kufm.kagoshima-u.ac.jp
RI Makita, Noriko/GQY-8175-2022; Minobe, Etsuko/P-5404-2018
OI Hao, Liying/0000-0002-0301-1827; Wang, Wuyang/0000-0003-1875-5463
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NR 48
TC 55
Z9 74
U1 0
U2 6
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0953-816X
EI 1460-9568
J9 EUR J NEUROSCI
JI Eur. J. Neurosci.
PD AUG
PY 2005
VL 22
IS 4
BP 793
EP 801
DI 10.1111/j.1460-9568.2005.04280.x
PG 9
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 957UB
UT WOS:000231397700002
PM 16115203
DA 2025-04-10
ER

PT J
AU Ogorelkova, M
   Gruber, A
   Utermann, G
AF Ogorelkova, M
   Gruber, A
   Utermann, G
TI Molecular basis of congenital Lp(a) deficiency: a frequent apo(a) 'null'
   mutation in Caucasians
SO HUMAN MOLECULAR GENETICS
LA English
DT Review
ID POLYMERASE CHAIN-REACTION; SPLICE-SITE MUTATION; KRINGLE-IV REPEATS;
   APOLIPOPROTEIN(A) GENE; LIPOPROTEIN(A) LEVELS; PLASMA-CONCENTRATIONS;
   DENSITY-LIPOPROTEIN; SEQUENCE; POLYMORPHISM; CELLS
AB High plasma concentrations of lipoprotein(a) [Lp(a)], a covalent low-density lipoprotein-apolipoprotein(a) [apo(a)] complex, are associated with coronary heart disease and stroke, Heritability of Lp(a) levels is high and the major locus determining Lp(a) concentrations is the apo(a) gene. We here demonstrate that a G-->A substitution at the +1 donor splice site of the apo(a) kringle (K) IV type 8 intron occurs with a high frequency (similar to 6%) in Caucasians but not in Africans and is associated with congenital deficiency of Lp(a) in plasma, This mutation alone accounts for a quarter of all 'null' apo(a) alleles in Caucasians. RT-PCR analysis based on apo(a) illegitimate transcription in lymphoblastoid cells demonstrated that the donor splice site mutation results in an alternative splicing of the K IV type 8 intron and encodes a truncated form of apo(a), Expression of the alternatively spliced cDNA analogue in HepG2 cells showed that the truncated apo(a) form is secreted but is unable to form the covalent Lp(a) complex, Immunoprecipitated plasma apo(a) from homozygotes for the mutation was almost completely fragmented. Taken together, our data indicate that a failure in complex formation followed by fast degradation in plasma of the truncated free apo(a) is one mechanism which underlies the null Lp(a) type associated with the donor splice site mutation.
C1 Univ Innsbruck, Inst Med Biol & Human Genet, A-6020 Innsbruck, Austria.
C3 University of Innsbruck
RP Utermann, G (corresponding author), Univ Innsbruck, Inst Med Biol & Human Genet, Schoepfstr 41, A-6020 Innsbruck, Austria.
EM gerd.utermann@uibk.ac.at
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NR 52
TC 60
Z9 63
U1 1
U2 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD OCT
PY 1999
VL 8
IS 11
BP 2087
EP 2096
DI 10.1093/hmg/8.11.2087
PG 10
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 242QM
UT WOS:000082952700016
PM 10484779
DA 2025-04-10
ER

PT J
AU Yin, HJ
   Wang, JS
   Li, H
   Yu, YJ
   Wang, XL
   Lu, LL
   Lv, CT
   Chang, B
   Jin, W
   Guo, WW
   Ren, CX
   Yang, G
AF Yin, Huijing
   Wang, Jingshu
   Li, Hui
   Yu, Yinjue
   Wang, Xiaoling
   Lu, Lili
   Lv, Cuiting
   Chang, Bin
   Jin, Wei
   Guo, Wenwen
   Ren, Chunxia
   Yang, Gong
TI Extracellular matrix protein-1 secretory isoform promotes ovarian cancer
   through increasing alternative mRNA splicing and stemness
SO NATURE COMMUNICATIONS
LA English
DT Article
ID X I-DOMAIN; CHOLESTEROL EFFLUX; SERUM MICRONUTRIENTS; CELL; BINDING;
   ECM1; CD11C/CD18; RIBONUCLEOPROTEIN; EXPRESSION; LIGAND
AB Extracellular matrix protein-1 (ECM1) promotes tumorigenesis in multiple organs but the mechanisms associated to ECM1 isoform subtypes have yet to be clarified. We report in this study that the secretory ECM1a isoform induces tumorigenesis through the GPR motif binding to integrin alpha X beta 2 and the activation of AKT/FAK/Rho/cytoskeleton signaling. The ATP binding cassette subfamily G member 1 (ABCG1) transduces the ECM1a-integrin alpha X beta 2 interactive signaling to facilitate the phosphorylation of AKT/FAK/Rho/cytoskeletal molecules and to confer cancer cell cisplatin resistance through up-regulation of the CD326-mediated cell stemness. On the contrary, the non-secretory ECM1b isoform binds myosin and blocks its phosphorylation, impairing cytoskeleton-mediated signaling and tumorigenesis. Moreover, ECM1a induces the expression of the heterogeneous nuclear ribonucleoprotein L like (hnRNPLL) protein to favor the alternative mRNA splicing generating ECM1a. ECM1a, alpha X beta 2, ABCG1 and hnRNPLL higher expression associates with poor survival, while ECM1b higher expression associates with good survival. These results highlight ECM1a, integrin alpha X beta 2, hnRNPLL and ABCG1 as potential targets for treating cancers associated with ECM1-activated signaling. Extracellular matrix protein 1 (ECM1) has been associated with cancer but the underlying molecular mechanisms are not clear. Here, the authors show that while ECM1b isoform is a tumour suppressor, the secreted isoform ECM1a promotes tumourigenesis and chemoresistance through increasing stemness and alternative mRNA splicing in ovarian cancer.
C1 [Yin, Huijing; Lu, Lili; Yang, Gong] Fudan Univ, Canc Inst, Shanghai Canc Ctr, Shanghai, Peoples R China.
   [Yin, Huijing; Lu, Lili; Chang, Bin; Guo, Wenwen; Yang, Gong] Fudan Univ, Shanghai Med Sch, Dept Oncol, Shanghai, Peoples R China.
   [Wang, Jingshu; Li, Hui; Yu, Yinjue; Lv, Cuiting; Yang, Gong] Fudan Univ, Peoples Hosp Shanghai 5, Cent Lab, Shanghai, Peoples R China.
   [Wang, Xiaoling; Ren, Chunxia] Shanghai Univ Tradit Chinese Med, Ctr Reprod Med, Shuguang Hosp, Shanghai, Peoples R China.
   [Chang, Bin] Fudan Univ, Dept Pathol, Shanghai Canc Ctr, Shanghai, Peoples R China.
   [Jin, Wei] Peoples Hosp Guangxi Zhuang Autonomous Reg, Dept Pathol, Nanning, Guangxi, Peoples R China.
   [Guo, Wenwen] Fudan Univ, Dept Pancreat Surg, Shanghai Canc Ctr, Shanghai, Peoples R China.
C3 Fudan University; Fudan University; Fudan University; Shanghai
   University of Traditional Chinese Medicine; Fudan University; Fudan
   University
RP Yang, G (corresponding author), Fudan Univ, Canc Inst, Shanghai Canc Ctr, Shanghai, Peoples R China.; Yang, G (corresponding author), Fudan Univ, Shanghai Med Sch, Dept Oncol, Shanghai, Peoples R China.; Yang, G (corresponding author), Fudan Univ, Peoples Hosp Shanghai 5, Cent Lab, Shanghai, Peoples R China.; Ren, CX (corresponding author), Shanghai Univ Tradit Chinese Med, Ctr Reprod Med, Shuguang Hosp, Shanghai, Peoples R China.
EM renchunxia2018@shutcm.edu.cn; yanggong@fudan.edu.cn
RI ZHANG, hui jie/HTN-1690-2023; guo, wenwen/KCJ-5093-2024; huiping,
   li/GZM-9712-2022
OI Yu, Yinjue/0009-0007-1371-5813
FU National Natural Science Foundation of China
   [81572553/81772789/81372797, 81402153];  [Q3WR4STP]
FX This study was supported by the grants #81572553/81772789/81372797 for
   G.Y. and #81402153 for C.R., respectively, from the National Natural
   Science Foundation of China. This manuscript was grammatically edited by
   Springer Nature Author Services (Order ID: Q3WR4STP).
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U2 32
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
EI 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD JUL 9
PY 2021
VL 12
IS 1
AR 4230
DI 10.1038/s41467-021-24315-1
PG 19
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA TK9PO
UT WOS:000674487100029
PM 34244494
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Makino, Y
   Kanopka, A
   Wilson, WJ
   Tanaka, H
   Poellinger, L
AF Makino, Y
   Kanopka, A
   Wilson, WJ
   Tanaka, H
   Poellinger, L
TI Inhibitory PAS domain protein (IPAS) is a hypoxia-inducible splicing
   variant of the hypoxia-inducible factor-3α locus
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID TUMOR-SUPPRESSOR PROTEIN; PROLYL HYDROXYLATION; FACTOR 1-ALPHA;
   HIF-ALPHA; BINDING; UBIQUITYLATION; TRANSCRIPTION; RECRUITMENT;
   HOMEOSTASIS; EXPRESSION
AB The inhibitory PAS (Per/Arnt/Sim) domain protein, IPAS, functions as a dominant negative regulator of hypoxia-inducible transcription factors (HIFs) by forming complexes with those proteins that fail to bind to hypoxia response elements of target genes. We have previously observed that IPAS is predominantly expressed in mice in Purkinje cells of the cerebellum and in corneal epithelium of the eye where it appears to play a role in negative regulation of angiogenesis and maintenance of an avascular phenotype. Sequencing of the mouse IPAS genomic structure revealed that IPAS is a splicing variant of the HIF-3alpha locus. Thus, in addition to three unique exons (1a, 4a, and 16) IPAS shares three exons (2, 4, and 5) with HIF-3alpha as well as alternatively spliced variants of exons 3 and 6. In experiments using normal mice and mice exposed to hypoxia (6% O-2) for 6 h we observed alternative splicing of the HIF-3alpha transcript in the heart and lung. The alternatively spliced transcript was only observed under hypoxic conditions, thus defining a novel mechanism of hypoxia-dependent regulation of gene expression. Importantly, this mechanism may establish negative feedback loop regulation of adaptive responses to hypoxia/ischemia in these tissues.
C1 Karolinska Inst, Dept Cell & Mol Biol, Med Nobel Inst, S-17177 Stockholm, Sweden.
   Inst Biotechnol, LT-2028 Vilnius, Lithuania.
   Univ Tokyo, Inst Med Sci, Adv Clin Res Ctr, Div Clin Immunol,Minato Ku, Tokyo 1088639, Japan.
C3 Karolinska Institutet; Vilnius University; University of Tokyo
RP Poellinger, L (corresponding author), Karolinska Inst, Dept Cell & Mol Biol, Med Nobel Inst, S-17177 Stockholm, Sweden.
RI Wilson, William/A-3631-2009
OI Wilson, William/0000-0001-5658-0997
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NR 19
TC 291
Z9 359
U1 0
U2 14
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
SN 0021-9258
J9 J BIOL CHEM
JI J. Biol. Chem.
PD SEP 6
PY 2002
VL 277
IS 36
BP 32405
EP 32408
DI 10.1074/jbc.C200328200
PG 4
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 591BC
UT WOS:000177859000001
PM 12119283
OA hybrid
DA 2025-04-10
ER

PT J
AU Amate-García, G
   Ballesta-Martínez, MJ
   Serrano-Lorenzo, P
   Garrido-Moraga, R
   González-Quintana, A
   Blázquez, A
   Rubio, JC
   García-Consuegra, I
   Arenas, J
   Ugalde, C
   Morán, M
   Guillén-Navarro, E
   Martín, MA
AF Amate-Garcia, Guillermo
   Ballesta-Martinez, Maria Juliana
   Serrano-Lorenzo, Pablo
   Garrido-Moraga, Rocio
   Gonzalez-Quintana, Adrian
   Blazquez, Alberto
   Rubio, Juan C.
   Garcia-Consuegra, Ines
   Arenas, Joaquin
   Ugalde, Cristina
   Moran, Maria
   Guillen-Navarro, Encarnacion
   Martin, Miguel A.
TI A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to
   an Alternative Transcript Expression in the X-Linked Complex I
   NDUFB11 Gene
SO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
LA English
DT Article
DE NDUFB11 gene; mitochondrial complex I; neonatal cardiomyopathy;
   splicing; heart muscle; skeletal muscle
ID MITOCHONDRIAL RESPIRATORY-CHAIN; INACTIVATION; DEFECTS
AB We report a neonatal patient with hypertrophic cardiomyopathy (HCM), lactic acidosis and isolated complex I deficiency. Using a customized next-generation sequencing panel, we identified a novel hemizygous variant c.338G>A in the X-linked NDUFB11 gene that encodes the NADH: ubiquinone oxidoreductase subunit B11 of the mitochondrial respiratory chain (MRC) complex I (CI). Molecular and functional assays performed in the proband's target tissues-skeletal and heart muscle-showed biochemical disturbances of the MRC, suggesting a pathogenic role for this variant. In silico analyses initially predicted an amino acid missense change p.(Arg113Lys) in the NDUFB11 CI subunit. However, we showed that the molecular effect of the c.338G>A variant, which is located at the last nucleotide of exon 2 of the NDUFB11 gene in the canonical 'short' transcript (sized 462 bp), instead causes a splicing defect triggering the up-regulation of the expression of an alternative 'long' transcript (sized 492 bp) that can also be detected in the control individuals. Our results support the hypothesis that the canonical 'short' transcript is required for the proper NDUFB11 protein synthesis, which is essential for optimal CI assembly and activity, whereas the longer alternative transcript seems to represent a non-functional, unprocessed splicing intermediate. Our results highlight the importance of characterizing the molecular effect of new variants in the affected patient's tissues to demonstrate their pathogenicity and association with the clinical phenotypes.
C1 [Amate-Garcia, Guillermo; Serrano-Lorenzo, Pablo; Garrido-Moraga, Rocio; Gonzalez-Quintana, Adrian; Blazquez, Alberto; Rubio, Juan C.; Garcia-Consuegra, Ines; Arenas, Joaquin; Ugalde, Cristina; Moran, Maria; Martin, Miguel A.] Inst Invest Hosp 12 Octubre Imas12, Grp Enfermedades Mitocondriales & Neuromusculares, Madrid 28041, Spain.
   [Ballesta-Martinez, Maria Juliana; Serrano-Lorenzo, Pablo; Gonzalez-Quintana, Adrian; Blazquez, Alberto; Rubio, Juan C.; Garcia-Consuegra, Ines; Arenas, Joaquin; Ugalde, Cristina; Moran, Maria; Guillen-Navarro, Encarnacion; Martin, Miguel A.] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain.
   [Ballesta-Martinez, Maria Juliana; Guillen-Navarro, Encarnacion] Hosp Clin Univ Virgen Arrixaca, Serv Pediat, Secc Genet Med, Inst Murciano Invest Biosanit IMIB Pascual Parril, Murcia 30120, Spain.
   [Guillen-Navarro, Encarnacion] Univ Murcia, Fac Med, Murcia 30120, Spain.
   [Martin, Miguel A.] Hosp Univ 12 Octubre, Serv Genet, Madrid 28041, Spain.
C3 CIBER - Centro de Investigacion Biomedica en Red; CIBERER; Hospital
   Clinico Universitario Virgen de la Arrixaca; University of Murcia;
   Hospital Universitario 12 de Octubre
RP Martín, MA (corresponding author), Inst Invest Hosp 12 Octubre Imas12, Grp Enfermedades Mitocondriales & Neuromusculares, Madrid 28041, Spain.; Martín, MA (corresponding author), Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain.; Martín, MA (corresponding author), Hosp Univ 12 Octubre, Serv Genet, Madrid 28041, Spain.
RI González-Quintana, Adrián/S-3724-2018; Martin, Miguel/S-2758-2018;
   Morán, María/HHS-1798-2022; Guillén Navarro, Encarna/AFU-6717-2022;
   Rubio-Romero, Juan/L-9792-2014; Martin, Miguel Angel/B-6261-2017;
   Serrano-Lorenzo, Pablo/S-4744-2018; Blazquez Encinar,
   Alberto/S-4425-2018; Ugalde, Cristina/P-7533-2016
OI Martin, Miguel Angel/0000-0003-4741-772X; Serrano-Lorenzo,
   Pablo/0000-0002-5661-7574; Garrido Moraga, Rocio/0000-0002-2856-4399;
   Blazquez Encinar, Alberto/0000-0002-6479-3615; Guillen-Navarro,
   Encarna/0000-0002-2915-7381; Moran, Maria/0000-0001-5408-7189; Ugalde,
   Cristina/0000-0002-9742-1877
FU Instituto de Salud Carlos III, (ISCIII); Ministerio de Ciencia e
   Innovacion (Madrid, Spain); European Regional Development Fund "A way to
   make Europe" [PI18_01374, PI20_00057]; ISCIII-CIBERER contract;
   Raregenomics-CM Network (Education Council, Comunidad de Madrid, Spain)
   [B2017/BMD-3721]
FX This research was funded by Instituto de Salud Carlos III, (ISCIII);
   Ministerio de Ciencia e Innovacion (Madrid, Spain), (co-funded by
   European Regional Development Fund "A way to make Europe") grant number
   PI18_01374 to M.A.M. and PI20_00057 to C.U. P.S.-L. is supported by a
   ISCIII-CIBERER contract. G.A.-G. was supported by Raregenomics-CM
   Network (Education Council, Comunidad de Madrid, Spain
   (B2017/BMD-3721)).
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NR 41
TC 5
Z9 5
U1 2
U2 4
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
SN 1661-6596
EI 1422-0067
J9 INT J MOL SCI
JI Int. J. Mol. Sci.
PD JAN
PY 2023
VL 24
IS 2
AR 1743
DI 10.3390/ijms24021743
PG 13
WC Biochemistry & Molecular Biology; Chemistry, Multidisciplinary
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Chemistry
GA 8D0OY
UT WOS:000918000900001
PM 36675256
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Finley, J
AF Finley, Jahahreeh
TI Cellular stress and AMPK activation as a common mechanism of action
   linking the effects of metformin and diverse compounds that alleviate
   accelerated aging defects in Hutchinson-Gilford progeria syndrome
SO MEDICAL HYPOTHESES
LA English
DT Article
DE AMP-activated protein kinase (AMPK); Hutchinson-Gilford progeria
   syndrome (HGPS); Oocyte; HIV-1 latency; Rapamycin; Metformin; Retinoic
   acid; Methylene blue; Sulforaphane; Oltipraz; Vitamin D; MG132;
   Acrosome; Alternative splicing; ULK1; Autophagy; PGC-l alpha; Nrf2;
   SRSF1; p32
ID SPLICE-SITE SELECTION; TRANS-RETINOIC ACID; PROTEIN-KINASE;
   METHYLENE-BLUE; REACTIVE OXYGEN; SKELETAL-MUSCLE; MITOCHONDRIAL
   BIOGENESIS; OOCYTE ACTIVATION; OXIDATIVE STRESS; P-32 PROTEIN
AB Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by an accelerated aging phenotype that typically leads to death via stroke or myocardial infarction at approximately 14.6 years of age. Most cases of HGPS have been linked to the extensive use of a cryptic splice donor site located in the LMNA gene due to a de novo mutation, generating a truncated and toxic protein known as progerin. Progerin accumulation in the nuclear membrane and within the nucleus distorts the nuclear architecture and negatively effects nuclear processes including DNA replication and repair, leading to accelerated cellular aging and premature senescence. The serine-arginine rich splicing factor SRSF1 (also known as ASF/SF2) has recently been shown to modulate alternative splicing of the LMNA gene, with SRSF1 inhibition significantly reducing progerin at both the mRNA and protein levels. In 2014, we hypothesized for the first time that compounds including metformin that induce activation of AMP-activated protein kinase (AMPK), a master metabolic regulator activated by cellular stress (e.g. increases in intracellular calcium, reactive oxygen species, and/or an AMP(ADP)/ATP ratio increase, etc.), will beneficially alter gene splicing in progeria cells by inhibiting SRSF1, thus lowering progerin levels and altering the LMNA pre-mRNA splicing ratio. Recent evidence has substantiated this hypothesis, with metformin significantly reducing the mRNA and protein levels of both SRSF1 and progerin, activating AMPK, and alleviating pathological defects in HGPS cells. Metformin has also recently been shown to beneficially alter gene splicing in normal humans. Interestingly, several chemically distinct compounds, including rapamycin, methylene blue, all-trans retinoic acid, MG132, 1 alpha,25-dihydroxyvitamin D3, sulforaphane, and oltipraz have each been shown to alleviate accelerated aging defects in patient-derived HGPS cells. Each of these compounds has also been independently shown to induce AMPK activation. Because these compounds improve accelerated aging defects in HGPS cells either by enhancing mitochondrial functionality, increasing Nrf2 activity, inducing autophagy, or by altering gene splicing and because AMPK activation beneficially modulates each of the aforementioned processes, it is our hypothesis that cellular stress-induced AMPK activation represents an indirect yet common mechanism of action linking such chemically diverse compounds with the beneficial effects of those compounds observed in HGPS cells. As normal humans also produce progerin at much lower levels through a similar mechanism, compounds that safely induce AMPK activation may have wide-ranging implications for both normal and pathological aging.
C1 [Finley, Jahahreeh] Finley BioSci, 9900 Richmond Ave, Houston, TX 77042 USA.
RP Finley, J (corresponding author), Finley BioSci, 9900 Richmond Ave, Houston, TX 77042 USA.
EM jfinley4@alumni.jh.edu
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NR 181
TC 11
Z9 12
U1 0
U2 21
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
   LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD SEP
PY 2018
VL 118
BP 151
EP 162
DI 10.1016/j.mehy.2018.06.029
PG 12
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA GR0FN
UT WOS:000442189900031
PM 30037605
DA 2025-04-10
ER

PT J
AU Marshall, CM
   Tartaglio, V
   Duarte, M
   Harmon, FG
AF Marshall, Carine M.
   Tartaglio, Virginia
   Duarte, Maritza
   Harmon, Frank G.
TI The Arabidopsis sickle Mutant Exhibits Altered Circadian Clock
   Responses to Cool Temperatures and Temperature-Dependent Alternative
   Splicing
SO PLANT CELL
LA English
DT Article
ID MESSENGER-RNA DECAY; PLANT; PROTEIN; TRANSCRIPTION; GENES; EXPRESSION;
   ALIGNMENT; THALIANA; MUTATION; RHYTHMS
AB The circadian clock allows plants to anticipate and respond to daily changes in ambient temperature. Mechanisms establishing the timing of circadian rhythms in Arabidopsis thaliana through temperature entrainment remain unclear. Also incompletely understood is the temperature compensation mechanism that maintains consistent period length within a range of ambient temperatures. A genetic screen for Arabidopsis mutants affecting temperature regulation of the PSEUDO-RESPONSE REGULATOR7 promoter yielded a novel allele of the SICKLE (SIC) gene. This mutant, sic-3, and the existing sic-1 mutant both exhibit low-amplitude or arrhythmic expression of core circadian clock genes under cool ambient temperature cycles, but not under light-dark entrainment. sic mutants also lengthen free running period in a manner consistent with impaired temperature compensation. sic mutant alleles accumulate LATE ELONGATED HYPOCOTYL (LHY) and CIRCADIAN CLOCK ASSOCIATED1 (CCA1) splice variants, among other alternatively spliced transcripts, which is exacerbated by cool temperatures. The cca1-1 lhy-20 double mutant is epistatic to sic-3, indicating the LHY and CCA1 splice variants are needed for sic-3 circadian clock phenotypes. It is not expected that SIC is directly involved in the circadian clock mechanism; instead, SIC likely contributes to pre-mRNA metabolism, and the splice variants that accumulate in sic mutants likely affect the circadian clock response to cool ambient temperature.
C1 [Marshall, Carine M.; Tartaglio, Virginia; Duarte, Maritza; Harmon, Frank G.] USDA ARS, Ctr Plant Gene Express, Albany, CA 94710 USA.
   [Marshall, Carine M.; Tartaglio, Virginia; Duarte, Maritza; Harmon, Frank G.] Univ Calif Berkeley, Dept Plant & Microbial Biol, Berkeley, CA 94720 USA.
C3 United States Department of Agriculture (USDA); University of California
   System; University of California Berkeley
RP Harmon, FG (corresponding author), USDA ARS, Ctr Plant Gene Express, Albany, CA 94710 USA.; Harmon, FG (corresponding author), Univ Calif Berkeley, Dept Plant & Microbial Biol, Berkeley, CA 94720 USA.
EM fharmon@berkeley.edu
OI Marshall, Carine/0000-0001-7178-4664; Scarlett,
   Virginia/0000-0002-4156-2849; Harmon, Frank/0000-0001-7017-5373
FU USDA [2030-21000-039-00D]; National Science Foundation [IOS1238048];
   University of California, Berkeley; Division Of Integrative Organismal
   Systems; Direct For Biological Sciences [1238048] Funding Source:
   National Science Foundation
FX We are thank C. Robertson McClung (Dartmouth College) for the ProPRR7:
   LUC reporter line, Bryan Thines (University of California, Berkeley) for
   creating the EMS-mutagenized population, Michael Covington (University
   of California, Davis) for sharing his polar plot script for R, and
   Michael Koontz (University of California, Davis) for help modifying the
   polar plot script. We thank Riva Bruenn (University of California,
   Berkeley) for her advice and experience in phylogenetic analysis. We
   thank Mark Mullan, Cody Schaaf, and Samantha Nguyen for research
   assistance. We thank University of California, Berkeley Summer
   Undergraduate Fellowships/Rose Hills for supporting Mark Mullan. We
   thank Claire Bendix, Emma Kovak, Dominica Rohozinski, Dominik Brilhaus,
   and Achim Werner for valuable feedback on early drafts of the
   manuscript. This work is supported by the USDA (2030-21000-039-00D to
   F.G.H.) and by the National Science Foundation (IOS1238048 to F.G.H.).
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NR 88
TC 45
Z9 56
U1 0
U2 31
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 1040-4651
EI 1532-298X
J9 PLANT CELL
JI Plant Cell
PD OCT
PY 2016
VL 28
IS 10
BP 2560
EP 2575
DI 10.1105/tpc.16.00223
PG 16
WC Biochemistry & Molecular Biology; Plant Sciences; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Plant Sciences; Cell Biology
GA EF2DR
UT WOS:000390135400019
PM 27624757
OA Green Published
DA 2025-04-10
ER

PT J
AU Plaisance, I
   Chouvardas, P
   Sun, YLZ
   Nemir, M
   Aghagolzadeh, P
   Aminfar, F
   Shen, SP
   Shim, WJ
   Rochais, F
   Johnson, R
   Palpant, N
   Pedrazzini, T
AF Plaisance, Isabelle
   Chouvardas, Panagiotis
   Sun, Yuliangzi
   Nemir, Mohamed
   Aghagolzadeh, Parisa
   Aminfar, Farhang
   Shen, Sophie
   Shim, Woo Jun
   Rochais, Francesca
   Johnson, Rory
   Palpant, Nathan
   Pedrazzini, Thierry
TI A transposable element into the human long noncoding RNA CARMEN is a
   switch for cardiac precursor cell specification
SO CARDIOVASCULAR RESEARCH
LA English
DT Article
DE Cardiac precursor cells; Smooth muscle cells; Long noncoding RNAs;
   Splicing; Transposable elements
ID SMOOTH-MUSCLE; GENE-EXPRESSION; HEART DEVELOPMENT; PROGENITOR CELLS; R
   LOOPS; LINEAGE; IDENTIFICATION; CARDIOMYOCYTE; ATLAS
AB Aims The major cardiac cell types composing the adult heart arise from common multipotent precursor cells. Cardiac lineage decisions are guided by extrinsic and cell-autonomous factors, including recently discovered long noncoding RNAs (lncRNAs). The human lncRNA CARMEN, which is known to dictate specification toward the cardiomyocyte (CM) and the smooth muscle cell (SMC) fates, generates a diversity of alternatively spliced isoforms. Methods and results The CARMEN locus can be manipulated to direct human primary cardiac precursor cells (CPCs) into specific cardiovascular fates. Investigating CARMEN isoform usage in differentiating CPCs represents therefore a unique opportunity to uncover isoform-specific functions in lncRNAs. Here, we identify one CARMEN isoform, CARMEN-201, to be crucial for SMC commitment. CARMEN-201 activity is encoded within an alternatively spliced exon containing a MIRc short interspersed nuclear element. This element binds the transcriptional repressor REST (RE1 Silencing Transcription Factor), targets it to cardiogenic loci, including ISL1, IRX1, IRX5, and SFRP1, and thereby blocks the CM gene program. In turn, genes regulating SMC differentiation are induced. Conclusions These data show how a critical physiological switch is wired by alternative splicing and functional transposable elements in a long noncoding RNA. They further demonstrated the crucial importance of the lncRNA isoform CARMEN-201 in SMC specification during heart development.
C1 [Plaisance, Isabelle; Nemir, Mohamed; Aghagolzadeh, Parisa; Aminfar, Farhang; Pedrazzini, Thierry] Univ Lausanne, Med Sch, Div Cardiol, Expt Cardiol Unit, Lausanne, Switzerland.
   [Chouvardas, Panagiotis; Johnson, Rory] Univ Bern, Dept Med Oncol, Inselspital, Bern, Switzerland.
   [Sun, Yuliangzi; Shen, Sophie; Shim, Woo Jun; Palpant, Nathan] Univ Queensland, Inst Mol Biosci, Brisbane, Australia.
   [Rochais, Francesca] Aix Marseille Univ, Marseille Med Genet, INSERM, U1251, Marseille, France.
   [Johnson, Rory] Univ Coll Dublin, Sch Biol & Environm Sci, Dublin, Ireland.
C3 University of Lausanne; University of Bern; University of Queensland;
   Institut National de la Sante et de la Recherche Medicale (Inserm);
   Aix-Marseille Universite; University College Dublin
RP Pedrazzini, T (corresponding author), Univ Lausanne, Med Sch, Div Cardiol, Expt Cardiol Unit, Lausanne, Switzerland.
EM thierry.pedrazzini@chuv.ch
RI Johnson, Rory/ABE-2503-2021; Rochais, Francesca/ABF-4675-2021; Shim, Woo
   Jun/AAC-7652-2021; Rochais, Francesca/A-5326-2017; Chouvardas,
   Panagiotis/U-5118-2017; Palpant, Nathan/B-1641-2017
OI Shen, Sophie/0000-0002-1867-050X; Shim, Woo Jun/0000-0001-9446-7821;
   Aghagolzadeh, Dr. Parisa/0000-0002-1519-5790; Pedrazzini,
   Thierry/0000-0002-7969-8725; Rochais, Francesca/0000-0001-9355-8916;
   Chouvardas, Panagiotis/0000-0003-1527-3151; Palpant,
   Nathan/0000-0002-9334-8107
FU Swiss National Science Foundation [CRSII5-1_173738, 31003A_182322];
   Swiss National Science Foundation (SNF) [31003A_182322] Funding Source:
   Swiss National Science Foundation (SNF)
FX This work was supported by grants from the Swiss National Science
   Foundation (T.P.; Grant Nos CRSII5-1_173738 and 31003A_182322).
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NR 50
TC 7
Z9 7
U1 0
U2 9
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0008-6363
EI 1755-3245
J9 CARDIOVASC RES
JI Cardiovasc. Res.
PD JUN 13
PY 2023
VL 119
IS 6
BP 1361
EP 1376
DI 10.1093/cvr/cvac191
EA JAN 2023
PG 16
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA J2DJ6
UT WOS:000913779700001
PM 36537036
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU MesnardRouiller, L
   Mercadier, JJ
   ButlerBrowne, G
   Heimburger, M
   Logeart, D
   Allen, PD
   Samson, F
AF MesnardRouiller, L
   Mercadier, JJ
   ButlerBrowne, G
   Heimburger, M
   Logeart, D
   Allen, PD
   Samson, F
TI Troponin T mRNA and protein isoforms in the human left ventricle:
   Pattern of expression in failing and control hearts
SO JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
LA English
DT Article
DE troponin T; gene expression; human heart; heart failure; stress
ID SINGLE-GENE; MOLECULAR-CLONING; ADULT ISOFORMS; TROPOMYOSIN; MUSCLE;
   EXON; IDENTIFICATION; ACTIVATION; DISEASE; CDNA
AB L. Messnard-Rouiller, J.-J. Mercadier, G. Butler-Browne, M. Heimburger, D. Logeart, P.D. Allen and F. Samson. Troponin T mRNA and Protein Isoforms in the Human Left Ventricle: Pattern of Expression in Failing and Control Hearts. Journal of Molecular and Cellular Cardiology (1997) 29, 3043-3055. We and others have previously cloned several cDNAs of human cardiac troponin T (cTnT), demonstrating the multiplicity of cTnT isoforms in the human heart. Four of them named cTnT1, 2, 3, and 4 result from a combinatorial alternative inclusion of 30- and 15-nucleotides in the 5' coding region of the cDNAs. In failing human ventricles, increased expression of fetal-type splicing products in the 5' region, one of them corresponding to cTnT1. To clarify this issue, we examined the accumulation of the 4 cTnT mRNA and protein species in left ventricular specimens at the time of heart transplantation, and in control left ventricular samples using RNase protection and Western blotting. In all samples, cTnT3 was the major mRNA isoform. cTnT4 a minor isoform while cTnT1 and cTnT2 mRNAs were present but barely detectable. At the protein level, cTnT3, 4 and 1 were detected with the same relative abundance as that seen at the mRNA level. In addition, we detected a fourth TnT species of very low abundance corresponding either to a skeletal or to a ''short'' cardiac TNT isoform. Compared to controls, increased levels of cTnT4 mRNA and protein were detected in only half the failing ventricles independently of the cause of failure, suggesting that this increase may not be a general characteristic of left ventricular failure but instead could be related to stress. Unexpectedly, we found a decrease in cTnT1 protein expression in all failing ventricular samples studied, compared to controls.
C1 UNIV PARIS 11, CNRS, ERS 566, LE PLESSIS ROBINSON, FRANCE.
   UNIV PARIS 07, INSERM, U460, F-75870 PARIS 18, FRANCE.
   UNIV PARIS 12, CNRS, URA 1448, PARIS, FRANCE.
   BRIGHAM & WOMENS HOSP, BOSTON, MA 02115 USA.
C3 Centre National de la Recherche Scientifique (CNRS); Universite Paris
   Saclay; Universite Paris Cite; Institut National de la Sante et de la
   Recherche Medicale (Inserm); Centre National de la Recherche
   Scientifique (CNRS); Universite Paris-Est-Creteil-Val-de-Marne (UPEC);
   Harvard University; Harvard University Medical Affiliates; Brigham &
   Women's Hospital
RI Mesnard, Michel/A-5570-2015
OI butler-browne, gillian/0000-0002-3431-242X
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NR 33
TC 49
Z9 52
U1 0
U2 3
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0022-2828
EI 1095-8584
J9 J MOL CELL CARDIOL
JI J. Mol. Cell. Cardiol.
PD NOV
PY 1997
VL 29
IS 11
BP 3043
EP 3055
DI 10.1006/jmcc.1997.0519
PG 13
WC Cardiac & Cardiovascular Systems; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Cell Biology
GA YJ820
UT WOS:A1997YJ82000019
PM 9405179
DA 2025-04-10
ER

PT J
AU Wang, J
   Ou, SW
   Wang, YJ
   Kameyama, M
   Kameyama, A
   Zong, ZH
AF Wang, Jun
   Ou, Shao-Wu
   Wang, Yun-Jie
   Kameyama, Masaki
   Kameyama, Asako
   Zong, Zhi-Hong
TI Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain
SO NEUROSCIENCE RESEARCH
LA English
DT Article
DE Variants; Full-length cDNA; Alternative splicing; Expression;
   Nav1.5/SCN5A; Human brain; Rat brain
ID CARDIAC SODIUM-CHANNEL; NA+ CHANNELS; MOLECULAR DIVERSITY; SPLICE
   VARIANT; ALPHA-SUBUNIT; EXPRESSION; NA(V)1.5; MOUSE; CELLS; HEART
AB Na+ currents with tetrodotoxin resistance (TTX-R) have been observed in neurons, but the full-length cDNAs encoding the TTX-R Nav1.5 channels in human and rat brains have not been identified. In this study, four full-length cDNAs encoding the alpha-subunits of the Nav1.5 channels in human and rat cerebral cortexes were cloned and designated hB1, hB2, rN1 and rN2 (accession number: EF629346, EF629347, EF618549, EF618550). The longest open reading frame of hB1 or rN1 encodes 2016 amino acid residues. Sequence analysis has indicated that hB1 is highly homologus with human cardiac Nav1.5/SCN5A (hH1) with >98% amino acid identity. Genomic sequence analysis of Nav1.5/SCN5A revealed that it is exon6A rather than exon6 splice variant of Nav1.5 which is expressed in human and rat brains. Alternative splicing variants hB2 and rN2, which lack exon24 and encode proteins of 1998 amino acids, were also identified. Furthermore, the total Nav1.5 mRNA and Nav beta 1 mRNA were detected in 16 different tissue types of developing Wistar rats by reverse polymerase chain reaction (RT-PCR), and their expression patterns varied among different tissue types with age development. These results suggest that Nav1.5 channels in human and rat brains are encoded by new variants of Nav1.5/SCN5A and Nav1.5 is more widely distributed and expressed than previously thought. (C) 2009 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.
C1 [Wang, Jun; Ou, Shao-Wu; Wang, Yun-Jie] China Med Univ, Affiliated Hosp 1, Dept Neurosurg, Shenyang 110001, Peoples R China.
   [Ou, Shao-Wu; Kameyama, Masaki; Kameyama, Asako] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Physiol, Kagoshima 8908544, Japan.
   [Zong, Zhi-Hong] China Med Univ, Dept Biochem & Mol Biol, Shenyang 110001, Peoples R China.
C3 China Medical University; Kagoshima University; China Medical University
RP Wang, YJ (corresponding author), China Med Univ, Affiliated Hosp 1, Dept Neurosurg, Shenyang 110001, Peoples R China.
EM wyj024@vip.sina.com
FU department of education and the natural science foundation of Liao Ning
   Province, China [05L50020082110]
FX This work was supported by grants from the department of education and
   the natural science foundation of Liao Ning Province, China (Foundation
   number: 05L500&20082110).
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NR 36
TC 21
Z9 28
U1 0
U2 7
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
   IRELAND
SN 0168-0102
EI 1872-8111
J9 NEUROSCI RES
JI Neurosci. Res.
PD AUG
PY 2009
VL 64
IS 4
BP 339
EP 347
DI 10.1016/j.neures.2009.04.003
PG 9
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 470UB
UT WOS:000268005200001
PM 19376164
DA 2025-04-10
ER

PT J
AU Abdulrazzak, H
   Noro, N
   Simons, JP
   Goldspink, G
   Barnard, EA
   Górecki, DC
AF Abdulrazzak, H
   Noro, N
   Simons, JP
   Goldspink, G
   Barnard, EA
   Górecki, DC
TI Structural diversity despite strong evolutionary conservation in the
   5′-untranslated region of the P-type dystrophin transcript
SO MOLECULAR AND CELLULAR NEUROSCIENCE
LA English
DT Article
ID DUCHENNE MUSCULAR-DYSTROPHY; LINKED DILATED CARDIOMYOPATHY; HUMAN
   SKELETAL-MUSCLE; MESSENGER-RNA; STRIKING CONSERVATION; MULTIPLE
   PROMOTERS; GENE-EXPRESSION; TRANSGENIC MICE; BRAIN; MOUSE
AB Analysis of the 5'-flanking regions of the Purkinje (P-) dystrophin genes and mRNAs in different species revealed strong sequence conservation but functional diversity. Multiple transcription initiation sites were identified in cerebella and muscles, tissues expressing P-dystrophin. The predominant initiation site was conserved, with another muscle-specific site located upstream. Despite sequence homology, significant tissue- and species-specific structural diversity in the P-type 5'-ends exists, including alternative splicing within the 5'-untranslated region combined with alternative splicing of intron 1. One amino terminus is conserved in mammals and, to a lesser extent, in chicken. However, alternative usage of ATG codons may result in a choice of N-termini or translation of short upstream ORFs in different species. Promoter activity of a fragment upstream of the cap site was shown by transient expression in myoblasts and in vivo following intramuscular injection. It is tissue- and developmentally regulated. Analysis of promoter deletions suggests the existence of negative regulatory elements in the proximal region.
C1 UCL Royal Free & Univ Coll, Sch Med, Dept Anat & Dev Biol, Div Basic Med Sci, London NW3 2PF, England.
   GlaxoWellcome, Tsukuba Res Lab, Dept Pharmacol, Tsukuba, Ibaraki 3004247, Japan.
   Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, England.
C3 University of London; University College London; UCL Medical School;
   GlaxoSmithKline; GlaxoSmithKline Japan; University of Cambridge
RP Górecki, DC (corresponding author), Univ Portsmouth, Sch Pharm & Biomed Sci, St Michaels Bldg,White Swan Rd, Portsmouth PO1 2DT, Hants, England.
EM darek.gorecki@port.ac.uk
RI ; Simons, Paul/A-9960-2009
OI Gorecki, Dariusz/0000-0003-3584-1654; Abdulrazzak,
   Hassan/0000-0002-0654-7221; Simons, Paul/0000-0002-5007-6674
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NR 54
TC 6
Z9 6
U1 0
U2 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1044-7431
J9 MOL CELL NEUROSCI
JI Mol. Cell. Neurosci.
PD MAR
PY 2001
VL 17
IS 3
BP 500
EP 513
DI 10.1006/mcne.2000.0950
PG 14
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 417JN
UT WOS:000167832000007
PM 11273645
DA 2025-04-10
ER

PT J
AU Watterson, DM
   Schavocky, JP
   Guo, L
   Weiss, C
   Chlenski, A
   Shirinsky, VP
   Van Eldik, LJ
   Haiech, J
AF Watterson, DM
   Schavocky, JP
   Guo, L
   Weiss, C
   Chlenski, A
   Shirinsky, VP
   Van Eldik, LJ
   Haiech, J
TI Analysis of the kinase-related protein gene found at human chromosome
   3q21 in a multi-gene cluster: Organization, expression, alternative
   splicing, and polymorphic marker
SO JOURNAL OF CELLULAR BIOCHEMISTRY
LA English
DT Article
DE genome; protein kinase; myosin; calmodulin; signal transduction;
   polymorphism; alternative splicing; smooth muscle; cardiac muscle;
   calcium
ID LIGHT-CHAIN KINASE; LOCALIZATION; CALMODULIN
AB We report the amino acid sequence, genomic organization, tissue expression, and alternative splice patterns for the human kinase related protein (KRP) gene, as well as the discovery of a new CA repeat sequence polymorphic marker in an upstream intron of the myosin light chain kinase (MLCK) gene. The KRP/MLCK genetic locus is a prototype for a recently discovered paradigm in which an independently regulated gene for a non-enzymic protein is embedded within a larger gene for a signal transduction enzyme, and both classes of proteins are involved in the regulation of the same cellular structure. The MLCK/KRP gene cluster has been found only in higher vertebrates and is localized to human chromosome 3q21. The determination of the human KRP amino acid sequence through cDNA sequence analysis and its comparison to the exon/intron organization of the human KRP gene revealed an alternative splice pattern at the start of KRP exon 2, resulting in the insertion of a single glutamic acid in the middle of the protein. Examination of tissue distribution using Northern blot analysis revealed that the human expression pattern is more similar to the well-characterized chicken KRP gene expression pattern than to rodent or rabbit. Unexpected differences of the human gene from other species is the apparent expression of the human gene products in adult cardiac muscle, an observation that was pursued further by the production of a site-directed antiserum and immunohistochemistry analysis. The results reported here provide insight into the conserved and variable features of this late evolving genetic paradigm, raise new questions about the molecular aspects of cardiac muscle regulation, and provide tools needed for future clinical studies. The comparative analysis of the MLCK/KRP locus, combined with the recent discovery of a similar genomic relationship among other signal transduction proteins, suggest a diverse distribution of this theme among signal transduction systems in higher vertebrate genomes and indicate the utility of comparative genomics in revealing late evolving genetic paradigms. J. Cell. Biochem. 75:481-491, 1999. (C) 1999 Wiley-Liss, Inc.
C1 Northwestern Univ, Dept Mol Pharmacol & Biol Chem, Chicago, IL 60611 USA.
   Northwestern Univ, Dept Cell & Mol Biol, Chicago, IL 60611 USA.
   Northwestern Univ, Drug Discovery Program, Chicago, IL 60611 USA.
   Russian Cardiol Res Ctr, Inst Expt Cardiol, Lab Cell Motil, Moscow, Russia.
   Univ Strasbourg 1, Fac Pharm, Strasbourg, France.
C3 Northwestern University; Northwestern University; Northwestern
   University; National Medical Research Center of Cardiology; Universites
   de Strasbourg Etablissements Associes; Universite de Strasbourg
RP Watterson, DM (corresponding author), Ward 8-196,303 E Chicago Ave, Chicago, IL 60611 USA.
RI haiech, jacques/F-2890-2010; Weiss, Craig/K-8910-2018; Shirinsky,
   Vladimir/AAN-3938-2020
OI Watterson, Daniel Martin/0000-0001-7605-5866; haiech,
   jacques/0000-0003-2908-8053
FU NIGMS NIH HHS [GM30861] Funding Source: Medline
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NR 15
TC 31
Z9 36
U1 0
U2 1
PU WILEY-LISS
PI NEW YORK
PA DIV JOHN WILEY & SONS INC, 605 THIRD AVE, NEW YORK, NY 10158-0012 USA
SN 0730-2312
J9 J CELL BIOCHEM
JI J. Cell. Biochem.
PD DEC 1
PY 1999
VL 75
IS 3
BP 481
EP 491
DI 10.1002/(SICI)1097-4644(19991201)75:3<481::AID-JCB12>3.0.CO;2-5
PG 11
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 250ZL
UT WOS:000083420100012
PM 10536370
DA 2025-04-10
ER

PT J
AU Martinez-Gomez, L
   Cerdán-Vélez, D
   Abascal, F
   Tress, ML
AF Martinez-Gomez, Laura
   Cerdan-Velez, Daniel
   Abascal, Federico
   Tress, Michael L.
TI Origins and Evolution of Human Tandem Duplicated Exon Substitution
   Events
SO GENOME BIOLOGY AND EVOLUTION
LA English
DT Article
DE alternative splicing; exon duplication; function; proteomics; tissue
   specificity; ion channels
ID PROTEIN-CODING GENES; SECONDARY STRUCTURE; DIVERSITY; ISOFORMS;
   DATABASE; PATTERN; CONVERGENCE; COVERAGE; IMPACT; DRAFTS
AB The mutually exclusive splicing of tandem duplicated exons produces protein isoforms that are identical save for a homologous region that allows for the fine tuning of protein function. Tandem duplicated exon substitution events are rare, yet highly important alternative splicing events. Most events are ancient, their isoforms are highly expressed, and they have significantly more pathogenic mutations than other splice events. Here, we analyzed the physicochemical properties and functional roles of the homologous polypeptide regions produced by the 236 tandem duplicated exon substitutions annotated in the human gene set. We find that the most important structural and functional residues in these homologous regions are maintained, and that most changes are conservative rather than drastic. Three quarters of the isoforms produced from tandem duplicated exon substitution events are tissue-specific, particularly in nervous and cardiac tissues, and tandem duplicated exon substitution events are enriched in functional terms related to structures in the brain and skeletal muscle. We find considerable evidence for the convergent evolution of tandem duplicated exon substitution events in vertebrates, arthropods, and nematodes. Twelve human gene families have orthologues with tandem duplicated exon substitution events in both Drosophila melanogaster and Caenorhabditis elegans. Six of these gene families are ion transporters, suggesting that tandem exon duplication in genes that control the flow of ions into the cell has an adaptive benefit. The ancient origins, the strong indications of tissue-specific functions, and the evidence of convergent evolution suggest that these events may have played important roles in the evolution of animal tissues and organs.
C1 [Martinez-Gomez, Laura; Cerdan-Velez, Daniel; Tress, Michael L.] Spanish Natl Canc Res Ctr CNIO, Bioinformat Unit, C Melchor Fernandez Almagro 3, Madrid 28029, Spain.
   [Abascal, Federico] Wellcome Sanger Inst, Somat Evolut Grp, Wellcome Genome Campus, Hinxton CB10 1SA, Cambs, England.
C3 Centro Nacional de Investigaciones Oncologicas (CNIO); Wellcome Trust
   Sanger Institute
RP Tress, ML (corresponding author), Spanish Natl Canc Res Ctr CNIO, Bioinformat Unit, C Melchor Fernandez Almagro 3, Madrid 28029, Spain.
EM mtress@cnio.es
RI Abascal, Federico/F-2267-2016
OI Martinez Gomez, Laura/0000-0001-9843-1332; Tress,
   Michael/0000-0001-9046-6370
FU National Human Genome Research Institute of the National Institutes of
   Health [U41 HG007234]
FX This work was funded by the National Human Genome Research Institute of
   the National Institutes of Health [grant number U41 HG007234]
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NR 77
TC 5
Z9 5
U1 1
U2 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1759-6653
J9 GENOME BIOL EVOL
JI Genome Biol. Evol.
PD DEC 7
PY 2022
VL 14
IS 12
AR evac162
DI 10.1093/gbe/evac162
EA DEC 2022
PG 17
WC Evolutionary Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Evolutionary Biology; Genetics & Heredity
GA 6X7NO
UT WOS:000896596500001
PM 36346145
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Dingar, D
   Benoit, MJ
   Mamarbachi, AM
   Villeneuve, LR
   Gillis, MA
   Grandy, S
   Gaestel, M
   Fiset, C
   Allen, BG
AF Dingar, Dharmendra
   Benoit, Marie-Josee
   Mamarbachi, Aida M.
   Villeneuve, Louis R.
   Gillis, Marc-Antoine
   Grandy, Scott
   Gaestel, Matthias
   Fiset, Celine
   Allen, Bruce G.
TI Characterization of the expression and regulation of MK5 in the murine
   ventricular myocardium
SO CELLULAR SIGNALLING
LA English
DT Article
DE MK5/PRAK; p38 MAP kinase; ERK3; ERK4; Alternative splicing; Heart;
   Hypertrophy
ID ACTIVATED PROTEIN-KINASE; P38 MAP KINASES; ERK3; PATHWAY; PROTEASOME;
   MYOCYTES; BINDING; PRAK; PROTEIN-KINASE-5; PHOSPHORYLATION
AB MK5, a member of the MAPK-activated protein kinase family, is highly expressed in the heart. Whereas MK2 and MK3 are activated by p38 MAPK. MK5 has also been shown to be activated by ERK3 and ERK4. We studied the regulation of MK5 in mouse heart. mRNA for 5 splice variants (MK5.1-5.5), including the original form (MK5.1), was detected. MK5 comprises 14 exons: exon 12 splicing was modified in MK5.2, MK5.3. and MK5.5. MK5.2 and MK5.5 lacked 6 bases at the 3'-end of exon 12, whereas MK5.3 lacked exon 12, resulting in a frame shift and premature termination of translation at codon 3 of exon 13. MK5.4 and MK5.5 lacked exons 2-6, encoding kinase subdomains I-VI, and were kinase-dead. All 5 MK5 variants were detected at the mRNA level in all mouse tissues examined; however, their relative abundance was tissue-specific. Furthermore, the relative abundance of variant mRNA was altered both during hypertrophy and postnatal cardiac development, suggesting that the generation or the stability of MK5 variant mRNAs is subject to regulation. When expressed in HEK293 cells, MK5.1, MK5.2 and MK5.3 were nuclear whereas MK5.4 and MK5.5 were cytoplasmic. A p38 MAPK activator, anisomycin, induced the redistribution of each variant. In contrast, MK5 co-immunoprecipitated ERK3, but not ERK4 or p38 alpha, in control and hypertrophying hearts. GST pull-down assays revealed unbound ERK4 and p38 alpha but no free MK5 or ERK3 in heart lysates. Hence, 1) in heart MK5 complexes with ERK3 and 2) MK5 splice variants may mediate distinct effects thus increasing the functional diversity of ERK3-MK5 signaling. (C) 2010 Elsevier Inc. All rights reserved.
C1 [Dingar, Dharmendra; Benoit, Marie-Josee; Mamarbachi, Aida M.; Villeneuve, Louis R.; Gillis, Marc-Antoine; Grandy, Scott; Fiset, Celine; Allen, Bruce G.] Montreal Heart Inst, Montreal, PQ H1T 1C8, Canada.
   [Dingar, Dharmendra; Benoit, Marie-Josee; Allen, Bruce G.] Univ Montreal, Dept Biochem, Montreal, PQ H3C 3J7, Canada.
   [Allen, Bruce G.] Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada.
   [Grandy, Scott; Fiset, Celine] Univ Montreal, Fac Pharm, Montreal, PQ H3C 3J7, Canada.
   [Gaestel, Matthias] Hannover Med Sch, Inst Biochem, D-30625 Hannover, Germany.
   [Allen, Bruce G.] McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ H3G 1Y6, Canada.
C3 Universite de Montreal; Universite de Montreal; Universite de Montreal;
   Universite de Montreal; Hannover Medical School; McGill University
RP Allen, BG (corresponding author), Montreal Heart Inst, 5000 Belanger St, Montreal, PQ H1T 1C8, Canada.
EM bruce.g.allen@umontreal.ca
RI Gaestel, Matthias/A-6560-2013; Allen, Bruce/B-4693-2008
OI Fiset, Celine/0000-0003-2309-4823; Gaestel,
   Matthias/0000-0002-4944-4652; Grandy, Scott/0000-0002-2573-4102; Allen,
   Bruce/0000-0001-9000-9495
FU Canadian Institutes of Health Research [MOP-77791]; Fonds de l'Institut
   de Cardiologie de Montreal (FICM)
FX We thank Ms. Nadege Moise for technical assistance and Dr. Maya
   Khairallah for her thoughtful discussion and critical reading of the
   manuscript. This work was supported by grants from the Canadian
   Institutes of Health Research [MOP-77791] and the Fonds de l'Institut de
   Cardiologie de Montreal (FICM). BGA and CF were Senior Scholars of the
   Fondation de la Recherche en Sante du Quebec (FRSQ).
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NR 36
TC 16
Z9 18
U1 0
U2 5
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0898-6568
EI 1873-3913
J9 CELL SIGNAL
JI Cell. Signal.
PD JUL
PY 2010
VL 22
IS 7
BP 1063
EP 1075
DI 10.1016/j.cellsig.2010.02.009
PG 13
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 604DX
UT WOS:000278258600009
PM 20214976
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Campostrini, G
   Kosmidis, G
   Ward-van Oostwaard, D
   Davis, RP
   Yiangou, L
   Ottaviani, D
   Veerman, CC
   Mei, HL
   Orlova, VV
   Wilde, AAM
   Bezzina, CR
   Verkerk, AO
   Mummery, CL
   Bellin, M
AF Campostrini, Giulia
   Kosmidis, Georgios
   Ward-van Oostwaard, Dorien
   Davis, Richard P.
   Yiangou, Loukia
   Ottaviani, Daniele
   Veerman, Christiaan C.
   Mei, Hailiang
   Orlova, Valeria V.
   Wilde, Arthur A. M.
   Bezzina, Connie R.
   Verkerk, Arie O.
   Mummery, Christine L.
   Bellin, Milena
TI Maturation of hiPSC-derived cardiomyocytes promotes adult alternative
   splicing of SCN5A and reveals changes in sodium current associated with
   cardiac arrhythmia
SO CARDIOVASCULAR RESEARCH
LA English
DT Article
DE human-induced pluripotent stem cell-derived cardiomyocytes; cardiac
   sodium channel; SCN5A; cardiac arrhythmias; cardiac microtissue
ID PLURIPOTENT STEM-CELLS; BRUGADA SYNDROME; EXPRESSION; MODELS
AB Aims Human-induced pluripotent stem cell-cardiomyocytes (hiPSC-CMs) are widely used to study arrhythmia-associated mutations in ion channels. Among these, the cardiac sodium channel SCN5A undergoes foetal-to-adult isoform switching around birth. Conventional hiPSC-CM cultures, which are phenotypically foetal, have thus far been unable to capture mutations in adult gene isoforms. Here, we investigated whether tri-cellular cross-talk in a three-dimensional (3D) cardiac microtissue (MT) promoted post-natal SCN5A maturation in hiPSC-CMs. Methods and results We derived patient hiPSC-CMs carrying compound mutations in the adult SCN5A exon 6B and exon 4. Electrophysiological properties of patient hiPSC-CMs in monolayer were not altered by the exon 6B mutation compared with isogenic controls since it is not expressed; further, CRISPR/Cas9-mediated excision of the foetal exon 6A did not promote adult SCN5A expression. However, when hiPSC-CMs were matured in 3D cardiac MTs, SCN5A underwent isoform switch and the functional consequences of the mutation located in exon 6B were revealed. Up-regulation of the splicing factor muscleblind-like protein 1 (MBNL1) drove SCN5A post-natal maturation in microtissues since its overexpression in hiPSC-CMs was sufficient to promote exon 6B inclusion, whilst knocking-out MBNL1 failed to foster isoform switch. Conclusions Our study shows that (i) the tri-cellular cardiac microtissues promote post-natal SCN5A isoform switch in hiPSC-CMs, (ii) adult splicing of SCN5A is driven by MBNL1 in these tissues, and (iii) this model can be used for examining post-natal cardiac arrhythmias due to mutations in the exon 6B. Translational perspective The cardiac sodium channel is essential for conducting the electrical impulse in the heart. Postnatal alternative splicing regulation causes mutual exclusive inclusion of fetal or adult exons of the corresponding gene, SCN5A. Typically, immature hiPSCCMs fall short in studying the effect of mutations located in the adult exon. We describe here that an innovative tri-cellular three-dimensional cardiac microtissue culture promotes hiPSC-CMs maturation through upregulation of MBNL1, thus revealing the effect of a pathogenic genetic variant located in the SCN5A adult exon. These results help advancing the use of hiPSC-CMs in studying adult heart disease and for developing personalized medicine applications.
C1 [Campostrini, Giulia; Kosmidis, Georgios; Ward-van Oostwaard, Dorien; Davis, Richard P.; Yiangou, Loukia; Orlova, Valeria V.; Mummery, Christine L.; Bellin, Milena] Leiden Univ Med Ctr LUMC, Dept Anat & Embryol, NL-2333 ZA Leiden, Netherlands.
   [Ottaviani, Daniele; Bellin, Milena] Univ Padua, Dept Biol, I-35121 Padua, Italy.
   [Ottaviani, Daniele; Bellin, Milena] Veneto Inst Mol Med, I-35129 Padua, Italy.
   [Veerman, Christiaan C.; Wilde, Arthur A. M.; Bezzina, Connie R.; Verkerk, Arie O.] Univ Amsterdam, Amsterdam Univ Med Ctr, Heart Ctr, Dept Clin & Expt Cardiol,Locat AMC, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands.
   [Mei, Hailiang] Leiden Univ, Sequencing Anal Support Core, Med Ctr, NL-2333 Leiden, Netherlands.
   [Verkerk, Arie O.] Univ Amsterdam, Dept Med Biol, Amsterdam UMC, Amsterdam Cardiovasc Sci, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands.
   [Mummery, Christine L.] Univ Twente, Dept Appl Stem Cell Technol, NL-7500 AE Enschede, Netherlands.
C3 Leiden University; Leiden University Medical Center (LUMC); University
   of Padua; Veneto Institute Molecular Medicine; University of Amsterdam;
   Leiden University; Leiden University Medical Center (LUMC); Leiden
   University - Excl LUMC; University of Amsterdam; University of Twente
RP Bellin, M (corresponding author), Univ Padua, Dept Biol, I-35121 Padua, Italy.; Bellin, M (corresponding author), Veneto Inst Mol Med, I-35129 Padua, Italy.
EM m.bellin@lumc.nl
RI Campostrini, Giulia/HGU-5867-2022; Verkerk, Arie/HQZ-9694-2023; Bellin,
   Milena/M-2311-2014; Orlova, Valeria/C-6065-2014; Davis,
   Richard/F-8910-2013; Campostrini, Giulia/B-7750-2017
OI Verkerk, Arie/0000-0003-2140-834X; Ward-van Oostwaard,
   Dorien/0000-0002-5864-9473; Ottaviani, Daniele/0000-0002-1946-7351;
   Bellin, Milena/0000-0001-5380-6743; Orlova, Valeria/0000-0002-1169-2802;
   Yiangou, Loukia/0000-0003-1477-005X; Davis, Richard/0000-0002-7917-9423;
   Campostrini, Giulia/0000-0003-4688-4991
FU Netherlands Organisation for Health Research and Development ZonMW (MKMD
   project) [114022504]; European Union [MSCA-IF 838985 SiGNATURE];
   European Research Council [ERC-CoG 101001746 Mini-HEART, ERC-AdG 323182
   STEMCARDIOVASC, 638030 STEMCARDIORISK]; Rembrandt Institute of
   Cardiovascular Science; Netherlands Organ-on-Chip Initiative Gravitation
   project - Nederlandse Organisatie voor Wetenschappelijk Onderzoek [NWO
   024.003.001]; Netherlands Organisation for Scientific Research (NWO)
   [91715303, 016.150.610]; Transnational Research Project on
   Cardiovascular Diseases [JTC2016_FP-40-021 ACM-HF]; Healthsimilar
   toHolland (TKI-LSH PPP-allowance) [LSHM17013-H007]; Hartstichting,
   Netherlands CardioVascular Research Initiative (CVON) (PREDICT2)
FX This work was supported by the following grants: the Netherlands
   Organisation for Health Research and Development ZonMW (MKMD project no.
   114022504); European Union's Horizon 2020 Research and Innovation
   Programme under the Marie Sklodowska-Curie (MSCA-IF 838985 SiGNATURE);
   European Research Council (ERC-CoG 101001746 Mini-HEART; ERCAdG 323182
   STEMCARDIOVASC; ERC-StG #638030 STEMCARDIORISK); the Rembrandt Institute
   of Cardiovascular Science; Netherlands Organ-on-Chip Initiative
   Gravitation project funded by Nederlandse Organisatie voor
   Wetenschappelijk Onderzoek (NWO 024.003.001); a VIDI and a VICI
   fellowship from the Netherlands Organisation for Scientific Research
   (NWO #91715303 and NWO #016.150.610, respectively); Transnational
   Research Project on Cardiovascular Diseases (JTC2016_FP-40-021 ACM-HF);
   Health similar to Holland (TKI-LSH PPP-allowance, LSHM17013-H007); and
   Hartstichting, Netherlands CardioVascular Research Initiative (CVON)
   (PREDICT2).
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NR 55
TC 21
Z9 22
U1 2
U2 10
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0008-6363
EI 1755-3245
J9 CARDIOVASC RES
JI Cardiovasc. Res.
PD MAR 17
PY 2023
VL 119
IS 1
BP 167
EP 182
DI 10.1093/cvr/cvac059
EA APR 2022
PG 16
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA A2XZ3
UT WOS:000788627300001
PM 35394010
OA hybrid, Green Published
DA 2025-04-10
ER

PT J
AU Kremer, V
   Oppelaar, JJ
   Gimbel, T
   Koziarek, S
   Ganzevoort, W
   van Pampus, MG
   Van den Born, BJ
   Vogt, L
   de Groot, C
   Boon, RA
AF Kremer, Veerle
   Oppelaar, Jetta J.
   Gimbel, Theresa
   Koziarek, Susanne
   Ganzevoort, Wessel
   van Pampus, Marielle G.
   Van den Born, Bert-Jan
   Vogt, Liffert
   de Groot, Christianne
   Boon, Reinier A.
TI Neuro-oncological Ventral Antigen 2 Regulates Splicing of Vascular
   Endothelial Growth Factor Receptor 1 and Is Required for Endothelial
   Function
SO REPRODUCTIVE SCIENCES
LA English
DT Article
DE Pre-eclampsia; Placenta; Endothelium; Alternative Splicing; FLT1
ID PREECLAMPSIA; EXPRESSION; PROTEIN; FLT-1; VARIANTS; HYPOXIA; NOVA2;
   SFLT1
AB Pre-eclampsia (PE) affects 2-8% of pregnancies and is responsible for significant morbidity and mortality. The maternal clinical syndrome (defined by hypertension, proteinuria, and organ dysfunction) is the result of endothelial dysfunction. The endothelial response to increased levels of soluble FMS-like Tyrosine Kinase 1 (sFLT1) is thought to play a central role. sFLT1 is released from multiple tissues and binds VEGF with high affinity and antagonizes VEGF. Expression of soluble variants of sFLT1 is a result of alternative splicing; however, the mechanism is incompletely understood. We hypothesize that neuro-oncological ventral antigen 2 (NOVA2) contributes to this. NOVA2 was inhibited in human umbilical vein endothelial cells (HUVECs) and multiple cellular functions were assessed. NOVA2 and FLT1 expression in the placenta of PE, pregnancy-induced hypertension, and normotensive controls was measured by RT-qPCR. Loss of NOVA2 in HUVECs resulted in significantly increased levels of sFLT1, but did not affect expression of membrane-bound FLT1. NOVA2 protein was shown to directly interact with FLT1 mRNA. Loss of NOVA2 was also accompanied by impaired endothelial functions such as sprouting. We were able to restore sprouting capacity by exogenous VEGF. We did not observe statistically significant regulation of NOVA2 or sFLT1 in the placenta. However, we observed a negative correlation between sFLT1 and NOVA2 expression levels. In conclusion, NOVA2 was found to regulate FLT1 splicing in the endothelium. Loss of NOVA2 resulted in impaired endothelial function, at least partially dependent on VEGF. In PE patients, we observed a negative correlation between NOVA2 and sFLT1.
C1 [Kremer, Veerle; Boon, Reinier A.] Amsterdam UMC, Dept Physiol, VU Med Ctr, Amsterdam Cardiovasc Sci, Amsterdam, Netherlands.
   [Kremer, Veerle] Amsterdam UMC, Dept Med Chem, Acad Med Ctr, Amsterdam, Netherlands.
   [Kremer, Veerle; Vogt, Liffert] Amsterdam Cardiovasc Sci, Microcirculat, Amsterdam, Netherlands.
   [Oppelaar, Jetta J.; Vogt, Liffert] Amsterdam UMC Locat Univ Amsterdam, Dept Internal Med, Sect Nephrol, Meibergdreef 9, Amsterdam, Netherlands.
   [Gimbel, Theresa; Koziarek, Susanne; Boon, Reinier A.] Goethe Univ, Inst Cardiovasc Regenerat, Frankfurt, Germany.
   [Gimbel, Theresa; Koziarek, Susanne; Boon, Reinier A.] German Ctr Cardiovasc Res DZHK, Partner Site Frankfurt Rhein Main, Frankfurt, Germany.
   [Ganzevoort, Wessel] Amsterdam UMC Univ Amsterdam, Dept Obstet & Gynecol, Amsterdam Reprod & Dev, Amsterdam, Netherlands.
   [van Pampus, Marielle G.] OLVG Hosp, Dept Obstet & Gynecol, Amsterdam, Netherlands.
   [Van den Born, Bert-Jan] Amsterdam UMC Locat Univ Amsterdam, Dept Internal Med, Sect Vasc Med, Meibergdreef 9, Amsterdam, Netherlands.
   [Van den Born, Bert-Jan] Atherosclerosis & Ischem Syndromes, Amsterdam Cardiovasc Sci, Amsterdam, Netherlands.
   [de Groot, Christianne] Vrije Univ, Dept Obstet & Gynaecol, Amsterdam UMC, Amsterdam, Netherlands.
   [Boon, Reinier A.] Amsterdam UMC, De Boelelaan 1108, NL-1081 HZ Amsterdam, Netherlands.
C3 Vrije Universiteit Amsterdam; VU UNIVERSITY MEDICAL CENTER; University
   of Amsterdam; University of Amsterdam; Academic Medical Center
   Amsterdam; Goethe University Frankfurt; German Centre for Cardiovascular
   Research; University of Amsterdam; Vrije Universiteit Amsterdam
RP Boon, RA (corresponding author), Amsterdam UMC, Dept Physiol, VU Med Ctr, Amsterdam Cardiovasc Sci, Amsterdam, Netherlands.; Boon, RA (corresponding author), Goethe Univ, Inst Cardiovasc Regenerat, Frankfurt, Germany.; Boon, RA (corresponding author), German Ctr Cardiovasc Res DZHK, Partner Site Frankfurt Rhein Main, Frankfurt, Germany.; Boon, RA (corresponding author), Amsterdam UMC, De Boelelaan 1108, NL-1081 HZ Amsterdam, Netherlands.
EM r.a.boon@amsterdamumc.nl
RI Ganzevoort, Wessel/AAH-4468-2020; van den Born, Bert-Jan/IUQ-0970-2023;
   Boon, Reinier/E-8423-2011; Vogt, Liffert/C-3168-2018
OI Vogt, Liffert/0000-0002-4585-7505; Boon, Reinier/0000-0001-7944-9748
FU Rembrandt Institute of Cardiovascular Science; German Centre for
   Cardiovascular Research (DZHK); European Research Council (ERC);
   Netherlands Organisation for Scientific Research (NWO Vidi); European
   Union [825670]; H2020 Societal Challenges Programme [825670] Funding
   Source: H2020 Societal Challenges Programme
FX This study was supported by the Rembrandt Institute of Cardiovascular
   Science, the German Centre for Cardiovascular Research (DZHK), the
   European Research Council (ERC starting "NOVA" and consolidator grant
   "NICCA"), the Netherlands Organisation for Scientific Research (NWO
   Vidi), and the European Union (Horizon 2020 Grant No. 825670). The
   funding sources had no involvement in the design, collection, or
   analysis of data.
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NR 55
TC 2
Z9 2
U1 0
U2 6
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 1933-7191
EI 1933-7205
J9 REPROD SCI
JI Reprod. Sci.
PD FEB
PY 2023
VL 30
IS 2
BP 678
EP 689
DI 10.1007/s43032-022-01044-4
EA AUG 2022
PG 12
WC Obstetrics & Gynecology; Reproductive Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Obstetrics & Gynecology; Reproductive Biology
GA 9P2TB
UT WOS:000836102200002
PM 35927413
OA hybrid, Green Published
DA 2025-04-10
ER

PT J
AU Bano, S
   Fatima, S
   Ahamad, S
   Ansari, S
   Gupta, D
   Tabish, M
   Rehman, SU
   Jairajpuri, MA
AF Bano, Shadabi
   Fatima, Sana
   Ahamad, Shahzaib
   Ansari, Shoyab
   Gupta, Dinesh
   Tabish, Mohammad
   Rehman, Sayeed ur
   Jairajpuri, Mohamad Aman
TI Identification and characterization of a novel isoform of heparin
   cofactorIIin human liver
SO IUBMB LIFE
LA English
DT Article
DE alternative splicing; heparin cofactor II; novel isoform; RT-PCR; serpin
ID PROTEIN-STRUCTURE; DERMATAN SULFATE; THROMBIN; GLYCOSAMINOGLYCAN;
   ACTIVATION; PEPTIDE; INACTIVATION
AB Heparin cofactor II (HCII) is predominantly expressed in the liver and inhibits thrombin in blood plasma to influence the blood coagulation cascade. Its deficiency is associated with arterial thrombosis. Its cleavage by neutrophil elastase produces fragment that helps in neutrophil chemotaxis in the acute inflammatory response in human. In the present study, we have identified a novel alternatively spliced transcript of the HCII gene in human liver. This novel transcript includes an additional novel region in continuation with exon 3 called exon 3b. Exon 3b acts like an alternate last exon, and hence its inclusion in the transcript due to alternative splicing removes exon 4 and encodes for a different C-terminal region to give a novel protein, HCII-N. MD simulations of HCII-N and three-dimensional structure showed a unique 51 amino acid sequence at the C-terminal having unique RCL-like structure. The HCII-N protein purified from bacterial culture showed a protein migrating at lower molecular weight (MW 55 kDa) as compared to native HCII (MW 66 kDa). A fluorescence-based analysis revealed a more compact structure of HCII-N that was in a more hydrophilic environment. The HCII-N protein, however, showed no inhibitory activity against thrombin. Due to large conformational variation observed in comparison with native HCII, HCII-N may have alternate protease specificity or a non-inhibitory role. Western blot of HCII purified from large plasma volume showed the presence of a low MW 59 kDa band with no thrombin activity. This study provides the first evidence of alternatively spliced novel isoform of the HCII gene.
C1 [Bano, Shadabi; Fatima, Sana; Ansari, Shoyab; Jairajpuri, Mohamad Aman] Jamia Millia Islamia, Dept Biosci, New Delhi 110025, India.
   [Ahamad, Shahzaib; Gupta, Dinesh] Int Ctr Genet Engn & Biotechnol, Translat Bioinformat Grp, New Delhi, India.
   [Tabish, Mohammad] Aligarh M Univ, Dept Biochem, Fac Life Sci, Aligarh, Uttar Pradesh, India.
   [Rehman, Sayeed ur] Jamia Hamdard, Dept Biochem, Sch Chem & Life Sci, New Delhi 110062, India.
C3 Jamia Millia Islamia; Department of Biotechnology (DBT) India;
   International Center for Genetic Engineering & Biotechnology (ICGEB);
   International Center for Genetic Engineering & Biotechnology (ICGEB),
   New Delhi; Aligarh Muslim University; Jamia Hamdard University
RP Jairajpuri, MA (corresponding author), Jamia Millia Islamia, Dept Biosci, New Delhi 110025, India.; Rehman, SU (corresponding author), Jamia Hamdard, Dept Biochem, Sch Chem & Life Sci, New Delhi 110062, India.
EM sayeed125@gmail.com; mjairajpuri@jmi.ac.in
RI Gupta, Dinesh/C-1079-2009; Ahamad, Shahzaib/AFE-3020-2022; Taheri,
   Majid/V-4415-2019
OI , Sayeed Ur Rehman/0000-0002-8208-3553; ANSARI,
   SHOYAB/0009-0009-0446-528X
FU Department of Biotechnology, Ministry of Science and Technology, India
   [BT/BI/04/001/2018, BT/PR23265/BRB/10/1582/2017]; ICMR Senior Research
   Fellowship; DBT Fellowships; ICGEB
FX Department of Biotechnology, Ministry of Science and Technology, India,
   Grant/Award Numbers: BT/BI/04/001/2018, BT/PR23265/BRB/10/1582/2017;
   ICMR Senior Research Fellowship; DBT Fellowships; ICGEB
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NR 47
TC 5
Z9 5
U1 0
U2 2
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1521-6543
EI 1521-6551
J9 IUBMB LIFE
JI IUBMB Life
PD OCT
PY 2020
VL 72
IS 10
BP 2180
EP 2193
DI 10.1002/iub.2361
EA AUG 2020
PG 14
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA NR1UM
UT WOS:000561432500001
PM 32827448
OA Bronze
DA 2025-04-10
ER

PT J
AU Mancino, AS
   Glass, WG
   Yan, YH
   Biggin, PC
   Bowie, D
AF Mancino, Adamo S.
   Glass, William G.
   Yan, Yuhao
   Biggin, Philip C.
   Bowie, Derek
TI Spliced isoforms of the cardiac Nav1.5 channel modify channel activation
   by distinct structural mechanisms
SO JOURNAL OF GENERAL PHYSIOLOGY
LA English
DT Article
ID GATED SODIUM-CHANNELS; PARTICLE MESH EWALD; MOLECULAR-DYNAMICS;
   VOLTAGE-SENSOR; MESSENGER-RNAS; FORCE-FIELD; INACTIVATION; BRAIN;
   EXCITABILITY; VALIDATION
AB Combining electrophysiology and molecular dynamics simulations, Mancino et al. highlight the role of two alternatively spliced residues in the DI S3-S4 linker that determine channel activation in Nav1.5, and they propose a conserved function in the related isoform Nav1.4.
   Alternative splicing is an important cellular mechanism that fine tunes the gating properties of both voltage- and ligand-gated ion-channels. The cardiac voltage-gated sodium channel, Nav1.5, is subject to alternative splicing of the DI S3-S4 linker, which generates two types of channels with different activation properties. Here, we show that the gating differences between the adult (mH1) and neonatal (Nav1.5e) isoforms of Nav1.5 are mediated by two amino acid residues: Thr/Ser at position 207 and Asp/Lys at position 211. Electrophysiological experiments, in conjunction with molecular dynamics simulations, revealed that each residue contributes equally to the overall gating shifts in activation, but that the underlying structural mechanisms are different. Asp/Lys at position 211 acts through electrostatic interactions, whereas Thr/Ser at position 207 is predicted to alter the hydrogen bond network at the top of the S3 helix. These distinct structural mechanisms work together to modify movement of the voltage-sensitive S4 helix to bring about channel activation. Interestingly, mutation of the homologous Asp and Thr residues of the skeletal muscle isoform, Nav1.4, to Lys and Ser, respectively, confers a similar gating shift in channel activation, suggesting that these residues may fulfill a conserved role across other Nav channel family members.
C1 [Mancino, Adamo S.; Yan, Yuhao] McGill Univ, Integrated Program Neurosci, Montreal, PQ, Canada.
   [Mancino, Adamo S.; Yan, Yuhao; Bowie, Derek] McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ, Canada.
   [Glass, William G.; Biggin, Philip C.] Univ Oxford, Dept Biochem, Oxford, England.
C3 McGill University; McGill University; University of Oxford
RP Bowie, D (corresponding author), McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ, Canada.
EM derek.bowie@mcgill.ca
OI Bowie, Derek/0000-0001-9491-8768; Mancino, Adamo/0000-0002-4756-8782;
   Yan, Yuhao/0000-0003-0049-850X; Biggin, Philip/0000-0001-5100-8836;
   Glass, William/0000-0002-4099-9280
FU Natural Sciences and Engineering Research Council of Canada; Canadian
   Institutes of Health Research; Engineering and Physical Sciences
   Research Council Centre [EP/L015722/1]; Fonds de recherche du Quebec
   masters fellowships
FX Christopher J. Lingle served as editor. We thank the members of the
   Bowie and Biggin labs for their constructive input on this manuscript.
   A.S. Mancino and Y. Yan were supported by Natural Sciences and
   Engineering Research Council of Canada and Fonds de recherche du Quebec
   masters fellowships, respectively, in addition to operating grants from
   the Canadian Institutes of Health Research (D. Bowie). W.G. Glass was
   supported by the Engineering and Physical Sciences Research Council
   Centre for Doctoral Training, Theory and Modelling in Chemical Sciences,
   under grant no. EP/L015722/1. The authors declare no competing financial
   interests. Author contributions: A.S. Mancino and Y. Yan were involved
   in plasmid construction, electrophysiology experiments, and data
   analysis. W.G. Glass conducted and analyzed MD simulations. A.S.
   Mancino, D. Bowie, W.G. Glass, and P.C. Biggin prepared finalized
   figures and wrote the manuscript.
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NR 66
TC 1
Z9 1
U1 0
U2 3
PU ROCKEFELLER UNIV PRESS
PI NEW YORK
PA 950 THIRD AVE, 2ND FLR, NEW YORK, NY 10022 USA
SN 0022-1295
EI 1540-7748
J9 J GEN PHYSIOL
JI J. Gen. Physiol.
PD MAR 17
PY 2022
VL 154
IS 5
AR e202112906
DI 10.1085/jgp.202112906
PG 17
WC Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology
GA 3N2KE
UT WOS:000835980100001
PM 35297947
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Yasui, T
   Nagaoka, U
   Oya, Y
   Uruha, A
   Karashima, J
   Funai, A
   Miyamoto, K
   Matsubara, S
   Sugaya, K
   Takahashi, K
   Inoue, M
   Okubo, M
   Sugie, K
   Nishino, I
AF Yasui, Toshio
   Nagaoka, Utako
   Oya, Yasushi
   Uruha, Akinori
   Karashima, Jun
   Funai, Asuka
   Miyamoto, Kazuhito
   Matsubara, Shiro
   Sugaya, Keizo
   Takahashi, Kazushi
   Inoue, Michio
   Okubo, Mariko
   Sugie, Kazuma
   Nishino, Ichizo
TI Mild form of Danon disease: two case reports
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE Lysosome-associated membrane protein-2 (LAMP-2); Alternative splicing;
   Autophagic vacuolar myopathy; Cardiomyopathy; Genotype-phenotype
   correlation; Autophagy
ID MUTATION; FEATURES
AB Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy. This report aims to describe two unrelated male patients showing mild manifestations of the disease. A 39-year-old man presented with a 10-year history of elevated serum creatine kinase levels with slowly progressive muscle weakness. Muscle pathology showed autophagic vacuoles with sarcolemmal features. Genetic testing revealed a hemizygous mutation in exon 9b, an alternatively spliced exon, of lysosome-associated membrane protein-2 ( LAMP-2 ) (c.1097_1098delAA). Cardiac testing showed asymptomatic mild left ventricular hypertrophy. He had borderline intelligence. Early stage of retinopathy was detected. Another male patient, currently 53-year-old, had asymptomatic supraventricular extrasystole and muscle weakness but no intellectual disability, harboring the same mutation. He also had retinopathy. The present patients commonly carry a mutation in exon 9b of LAMP-2 , suggesting that mutations in the exon are associated with a mild form of Danon disease. (c) 2021 Elsevier B.V. All rights reserved.
C1 [Yasui, Toshio; Nagaoka, Utako; Uruha, Akinori; Karashima, Jun; Funai, Asuka; Miyamoto, Kazuhito; Matsubara, Shiro; Sugaya, Keizo; Takahashi, Kazushi] Tokyo Metropolitan Neurol Hosp, Dept Neurol, 2-6-1 Musashidai, Fuchu, Tokyo 1830042, Japan.
   [Yasui, Toshio] Natl Hosp Org Tokyo Med Ctr, Dept Neurol, Tokyo, Japan.
   [Oya, Yasushi] Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Neurol, Tokyo, Japan.
   [Uruha, Akinori] Charite Univ Med Berlin, Dept Neuropathol, Berlin, Germany.
   [Uruha, Akinori] Free Univ Berlin, Berlin, Germany.
   [Uruha, Akinori] Humboldt Univ, Berlin, Germany.
   [Karashima, Jun] Tokyo Metropolitan Hiroo Gen Hosp, Dept Cardiol, Tokyo, Japan.
   [Inoue, Michio; Okubo, Mariko; Nishino, Ichizo] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo, Japan.
   [Sugie, Kazuma] Nara Med Univ, Dept Neurol, Nara, Japan.
C3 Tokyo Metropolitan Institute for Neuroscience; National Center for
   Neurology & Psychiatry - Japan; Berlin Institute of Health; Free
   University of Berlin; Humboldt University of Berlin; Charite
   Universitatsmedizin Berlin; Free University of Berlin; Humboldt
   University of Berlin; Tokyo Metropolitan Institute of Gerontology;
   National Center for Neurology & Psychiatry - Japan; Nara Medical
   University
RP Uruha, A (corresponding author), Tokyo Metropolitan Neurol Hosp, Dept Neurol, 2-6-1 Musashidai, Fuchu, Tokyo 1830042, Japan.
EM a.uruha@gmail.com
RI Inoue, Michio/KVY-0444-2024; Nishino, Ichizo/G-2676-2010
OI Inoue, Michio/0000-0003-2757-3266
FU Intramural Research Grant [2-5, 29-4]; AMED [JP20ek0109490h0001,
   JP19ek0109285h0003]
FX This study was supported partly by Intramural Research Grant (2-5 and
   29-4) for Neurological and Psychiatric Disorders of NCNP and AMED under
   Grant Numbers JP20ek0109490h0001 and JP19ek0109285h0003.
CR Cenacchi G, 2020, NEUROPATH APPL NEURO, V46, P303, DOI 10.1111/nan.12587
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NR 18
TC 1
Z9 1
U1 0
U2 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
EI 1873-2364
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD NOV
PY 2021
VL 31
IS 11
BP 1207
EP 1211
DI 10.1016/j.nmd.2021.07.017
EA DEC 2021
PG 5
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA XQ1EZ
UT WOS:000731297600013
PM 34702653
OA Bronze
DA 2025-04-10
ER

PT J
AU Kudo, T
   Sutou, S
AF Kudo, T
   Sutou, S
TI Chicken LRH-1 gene is transcribed from multiple promoters in
   steroidogenic organs
SO GENE
LA English
DT Article
DE alternative splicing; genomic structure; FTF; FTZ-F1; NR5A2
ID LIVER RECEPTOR HOMOLOG-1; ORPHAN NUCLEAR RECEPTOR; FACTOR FTF GENE;
   FACTOR-I; DIFFERENTIAL EXPRESSION; MOLECULAR-CLONING; FTZ-F1;
   EMBRYOGENESIS; REGULATOR; SEQUENCES
AB Liver receptor homolog-1 (LRH-1) is a homolog of FTZ-F1, a transcription factor of the fruit fly, and belongs to the orphan nuclear receptor family. LRH-1 is expressed in organs derived from the endoderm, including intestine, liver and exocrine pancreas and plays a predominant role in development, bile-acid homeostasis, and reverse cholesterol transport. Recent research has revealed that mammalian LRH-1 is also expressed in the steroidogenic organs and has suggested that LRH-1 shares a role in steroidogenesis with steroidogenic factor-1 (SF-1), which is a paralog of LRH-1. In this study, we determined transcription initiation sites of chicken LRH-1 and showed that LRH-1 is expressed as several splicing variants in chicken steroidogenic organs. From three steroidogenic organs, the adrenal glands, ovaries, and testes, several cDNA fragments including different lengths and sequences were amplified by 5'-RACE and these were mainly classified into five types. Using these sequences, chicken genomic database was searched and four types of first exons were identified in chromosome 8. However, the database sequence of these regions included several gaps. So we cloned gap regions by PCR cloning from chicken genomic DNA and found the other type of first exons in the gaps. Moreover, RT-PCR showed the expression of LRH-1 in chicken steroidogenic organs as many splicing variants. We concluded that the chicken LRH-1 gene is transcribed from at least five different transcription initiation sites and alternative splicing produces several types of mRNA in steroidogenic organs. (c) 2005 Elsevier B.V. All rights reserved.
C1 Shujitsu Univ, Sch Pharm, Dept Biol Pharm, Lab Funct Gen, Okayama 7038516, Japan.
   Natl Inst Adv Ind Sci & Technol, IGene Therapeut Inc, Tsukuba, Ibaraki 3058562, Japan.
C3 National Institute of Advanced Industrial Science & Technology (AIST)
RP Kudo, T (corresponding author), Shujitsu Univ, Sch Pharm, Dept Biol Pharm, Lab Funct Gen, 1-6-1 Nishigawara, Okayama 7038516, Japan.
EM kudo@shujitsu.ac.jp
OI Kudo, Toshiyuki/0000-0002-1148-2354
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NR 32
TC 5
Z9 5
U1 0
U2 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD FEB 15
PY 2006
VL 367
BP 38
EP 45
DI 10.1016/j.gene.2005.08.026
PG 8
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 026BZ
UT WOS:000236313000003
PM 16403608
DA 2025-04-10
ER

PT J
AU Jin, JP
   Zhang, ZL
   Bautista, JA
AF Jin, Jian-Ping
   Zhang, Zhiling
   Bautista, James A.
TI Isoform diversity, regulation, and functional adaptation of troponin and
   calponin
SO CRITICAL REVIEWS IN EUKARYOTIC GENE EXPRESSION
LA English
DT Review
DE cardiac and skeletal muscle; contractility; actin thin filament;
   development; alternative splicing; posttranslational modification
ID PROTEIN-KINASE-C; SMOOTH-MUSCLE CALPONIN; FAST SKELETAL-MUSCLE; HUMAN
   CARDIAC TROPONIN; NH2-TERMINAL VARIABLE REGION; COMPLETE
   NUCLEOTIDE-SEQUENCE; METAL-BINDING CLUSTER; GLU(180) NONSENSE MUTATION;
   ACTIN-MYOSIN INTERACTION; THIN FILAMENT
AB Actin-activated myosin II motor function powers muscle contraction and nonmuscle cell motility. The actin-myosin-derived contractility has evolved with a great diversity in different muscle and cell types. Actin filament-based regulation controls striated muscle contraction and plays a role in modulating smooth muscle contractility and nonmuscle cell motility. This review focuses on the isoform diversity and functional adaptations of troponin in striated muscle and calponin in smooth muscle and nonmuscle cells. The gene regulation, alternative RNA splicing, and posttranslational modifications of troponin I and troponin T are summarized, together with recent progress in calponin studies. The biologic significance of the structural and functional diversity and regulation of troponin and calponin is discussed for roles in normal contractility and diseases.
C1 [Jin, Jian-Ping] Evanston Northwestern Healthcare, Sect Mol Cardiol, Evanston, IL 60201 USA.
   Northwestern Univ, Feinberg Sch Med, Evanston, IL 60201 USA.
C3 NorthShore University Health System; Northwestern University; Feinberg
   School of Medicine
RP Jin, JP (corresponding author), Evanston Northwestern Healthcare, Sect Mol Cardiol, Evanston, IL 60201 USA.
EM jpjin@northwestern.edu
RI Zhang, Zhiling/GPS-8205-2022; Jin, Jian-Ping/AAD-1149-2020
OI Jin, JP/0000-0001-9932-1063
FU NHLBI NIH HHS [HL 078773, HL 086720] Funding Source: Medline; NIAMS NIH
   HHS [AR 048816, AR 039750-130037] Funding Source: Medline; NICHD NIH HHS
   [HD 044824] Funding Source: Medline
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NR 285
TC 104
Z9 117
U1 0
U2 15
PU BEGELL HOUSE INC
PI DANBURY
PA 50 NORTH ST, DANBURY, CT 06810 USA
SN 1045-4403
EI 2162-6502
J9 CRIT REV EUKAR GENE
JI Crit. Rev. Eukaryot. Gene Expr.
PY 2008
VL 18
IS 2
BP 93
EP 124
DI 10.1615/CritRevEukarGeneExpr.v18.i2.10
PG 32
WC Biotechnology & Applied Microbiology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biotechnology & Applied Microbiology; Genetics & Heredity
GA 251EJ
UT WOS:000252353800001
PM 18304026
DA 2025-04-10
ER

PT J
AU Takimoto, K
   Li, DQ
   Nerbonne, JM
   Levitan, ES
AF Takimoto, K
   Li, DQ
   Nerbonne, JM
   Levitan, ES
TI Distribution, splicing and glucocorticoid-induced expression of cardiac
   alpha(1C) and alpha(1D) voltage-gated Ca2+ channel mRNAs
SO JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
LA English
DT Article
DE calcium channels; dihydropyridine-binding; alternative splicing;
   glucocorticoids
ID DEPENDENT CALCIUM-CHANNEL; CLONAL PITUITARY-CELLS; PANCREATIC
   BETA-CELLS; SMOOTH-MUSCLE CELLS; ALPHA-1 SUBUNIT; RAT-HEART; MOLECULAR
   DIVERSITY; DEXAMETHASONE; CLONING; TRANSCRIPTS
AB K. Takimoto, D. Li, J.M. Nerbonne and E.S. Levitan. Distribution, Splicing and Glucocorticoid-induced Expression of Cardiac alpha(1C) and alpha(1D) Voltage-goted Ca2+ channel mRNAs. Journal of Molecular and Cellular Cardiology (1997) 29, 3035-3042. Dihydropyridine-sensitive voltage-gated (L-type) Ca2+ channels play an essential role in cardiac and smooth muscle excitation-contraction coupling. Transcripts for the two pore-forming subunits of L-type Ca2+ channels, alpha(1C) and alpha(1D) have been detected in heart and lung; however, distribution, structure and regulated expression of these channel subunit mRNAs have not been examined in detail, Here we use RNase protection and RT-PCR assays to identify cardiac-specific features of expression of the two channel mRNAs. First, expression of alpha(1D) mRNA is found in lung, aorta and atrium, but is not detected in ventricle. Limited expression of alpha(1D) mRNA is also seen in enriched preparations of cardiac myocytes: it is significant in atrial myocytes, but not in ventricular myocytes. Second, RT-PCR analyses indicate that atrial alpha(1D) channels exclusively contains the 15-amino acid insertion between third and fourth segments in repeat IV. Finally, expression of alpha(1C) mRNA, but not alpha(1D) mRNA, is up-regulated by glucocorticoids in atrium and ventricle: adrenalectomy and subsequent injection of the glucocorticoid agonist dexamethasone decreased and increased the channel message, respectively. Dexamethasone also significantly increased the number of dihydropyridine-binding sites in ventricle. In contrast, alpha(1C) mRNA levels were glucocorticoid-insensitive in lung and aorta. Thus, basal and glucocorticoid-induced expression, and splicing of the two L-type Ca2+ channel alpha(1) subunit transcripts are tissue specifically controlled in atria and ventricles of rat heart. (C) 1997 Academic Press Limited.
C1 UNIV PITTSBURGH, DEPT PHARMACOL, PITTSBURGH, PA 15261 USA.
   WASHINGTON UNIV, SCH MED, DEPT PHARMACOL, ST LOUIS, MO 63110 USA.
C3 Pennsylvania Commonwealth System of Higher Education (PCSHE); University
   of Pittsburgh; Washington University (WUSTL)
FU NHLBI NIH HHS [HL55312] Funding Source: Medline
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NR 29
TC 106
Z9 125
U1 0
U2 2
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0022-2828
EI 1095-8584
J9 J MOL CELL CARDIOL
JI J. Mol. Cell. Cardiol.
PD NOV
PY 1997
VL 29
IS 11
BP 3035
EP 3042
DI 10.1006/jmcc.1997.0532
PG 8
WC Cardiac & Cardiovascular Systems; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Cell Biology
GA YJ820
UT WOS:A1997YJ82000018
PM 9405178
DA 2025-04-10
ER

PT J
AU Wu, XL
   Nakayama, M
   Adamson, JW
AF Wu, XL
   Nakayama, M
   Adamson, JW
TI Identification of five new isoforms of murine thrombopoietin mRNA
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
ID C-MPL LIGAND; EXPRESSION; MEGAKARYOCYTOPOIESIS; PLATELETS; GENE;
   LOCALIZATION; STIMULATION; CLONING; BINDING; MICE
AB Thrombopoietin (Tpo) is the major physiologic regulator of platelet production. Its gene is expressed in many organs and appears constitutive in liver and kidney. However, inducible gene expression in the bone marrow and spleen have been reported as well as the presence of a number of isoforms, presumably arising from alternative splicing. We have identified five new murine Tpo isoforms, designated Tpo 5 to Tpo 9. Alternative splicing of these isoforms, in addition to the already-reported four isoforms, occurs around exon 7, the last exon, with insertion of some intron sequences or deletion of exon sequences. Studies of tissue distribution indicate that Tpo 4 is the major isoform in lymph nodes and bone marrow. The roles of these isoforms in hematopoietic regulation are unknown, but the presence of inducible Tpo mRNA in the marrow microenvironment may contribute to platelet or stem cell homeostasis. (C) 2000 Academic Press.
C1 New York Blood Ctr, New York, NY 10021 USA.
   Blood Ctr SE Wisconsin Inc, Blood Res Inst, Milwaukee, WI 53201 USA.
C3 New York Blood Center; Versiti Blood Center of Wisconsin
RP New York Blood Ctr, New York, NY 10021 USA.
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NR 22
TC 2
Z9 2
U1 0
U2 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD SEP 16
PY 2000
VL 276
IS 1
BP 137
EP 143
DI 10.1006/bbrc.2000.3428
PG 7
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 355LX
UT WOS:000089388100025
PM 11006096
DA 2025-04-10
ER

PT J
AU Kim, DG
   Hwang, EM
   Yoo, JC
   Kim, E
   Park, N
   Rhee, S
   Ha, CM
   Hong, SG
   Park, JY
AF Kim, Dong-Gyu
   Hwang, Eun Mi
   Yoo, Jae Cheal
   Kim, Eunju
   Park, Nammi
   Rhee, Sangmyung
   Ha, Chang Man
   Hong, Seong-Geun
   Park, Jae-Yong
TI Identification and characterization of a truncated isoform of NELL2
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE NELL2; Truncated NELL2; Alternative splicing; Neurite outgrowth;
   Secretion
ID PROTEIN; GROWTH; DOMAIN; EXPRESSION; NEURONS
AB NELL2 is a neuron-specific secreted glycoprotein containing in N-terminal thrombospondin I-like domain (TSP-N) In this study. we describe NELL2-Tsp, a novel alternative splice variant of rat NELL2 NELL2-Tsp uses an alternate stop codon resulting in a C-terminal truncated form of NELL2, containing a signal peptide and a TSP-N domain NELL2-Tsp is a glycosylated protein specifically expressed In brain tissue. NELL2-Tsp and NELL2 are secreted, likely due to the putative signal peptide. However. Clue to the truncation, the secreted portion of NELL2-Tsp is smaller than that of NELL2 Immunoprecipitation analysis confirmed that NELL2-Tsp was able to associate with NELL2 and with itself In addition, expression of NELL2-Tsp notably reduced secretion of NELL2 and inhibited NELL2-mediated neurite Outgrowth These results suggest that NELL2-Tsp may act as a negative regulator of wild-type NELL2 (C) 2009 Elsevier Inc All rights reserved
C1 [Kim, Dong-Gyu; Hwang, Eun Mi; Yoo, Jae Cheal; Kim, Eunju; Park, Nammi; Hong, Seong-Geun; Park, Jae-Yong] Gyeongsang Natl Univ, Sch Med, Inst Hlth Sci, Dept Physiol, Jinju 660751, South Korea.
   [Kim, Dong-Gyu; Hwang, Eun Mi; Yoo, Jae Cheal; Kim, Eunju; Park, Nammi; Hong, Seong-Geun; Park, Jae-Yong] Gyeongsang Natl Univ, Sch Med, Med Res Ctr Neural Dysfunct, Jinju 660751, South Korea.
   [Rhee, Sangmyung] Chung Ang Univ, Coll Nat Sci, Dept Life Sci, Seoul 156756, South Korea.
   [Ha, Chang Man] Yonsei Univ, Coll Med, Dept Pharmacol, Seoul 120752, South Korea.
   [Ha, Chang Man] Yonsei Univ, Coll Med, Brain Korea Project Med Sci 21, Seoul 120752, South Korea.
C3 Gyeongsang National University; Gyeongsang National University; Chung
   Ang University; Yonsei University; Yonsei University Health System;
   Yonsei University; Yonsei University Health System
RP Park, JY (corresponding author), Gyeongsang Natl Univ, Sch Med, Inst Hlth Sci, Dept Physiol, 90 Chilam Dong, Jinju 660751, South Korea.
EM jaeyong@gnu.ac.kr
RI Hwang, Eun Mi/HHN-3030-2022
OI Park, Jae-Yong/0000-0001-7698-7890
FU Korea Science and Engineering Foundation [R13-2005-012-020020]; Korea
   Research Foundation [KRF-2006-005-J04204]
FX This work was supported by the Basic Research Program of the Korea
   Science and Engineering Foundation (R13-2005-012-020020) and a Korea
   Research Foundation Grant (KRF-2006-005-J04204). The nucleotide
   sequences reported in this paper have been submitted to the
   GenBank_databases under Accession No. GQ376510.
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NR 20
TC 7
Z9 8
U1 0
U2 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD JAN 1
PY 2010
VL 391
IS 1
BP 529
EP 534
DI 10.1016/j.bbrc.2009.11.092
PG 6
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 544AV
UT WOS:000273624500093
PM 19931511
DA 2025-04-10
ER

PT J
AU Sugimura, K
   Tian, XL
   Hoffmann, S
   Ganten, D
   Bader, M
AF Sugimura, K
   Tian, XL
   Hoffmann, S
   Ganten, D
   Bader, M
TI Alternative splicing of the mRNA coding for the human endothelial
   angiotensin-converting enzyme: A new mechanism for solubilization
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
ID INSERTION DELETION POLYMORPHISM; PLASMA ACE LEVELS;
   MYOCARDIAL-INFARCTION; MOLECULAR-CLONING; GENE POLYMORPHISM; LINKAGE
   ANALYSIS; MESSENGER-RNAS; MEMBRANE; EXPRESSION; CELLS
AB Angiotensin converting enzyme (ACE) is a zinc metalloprotease anchored in the plasma membrane with a carboxy-terminal hydrophobic domain. In addition, the existence of a soluble form of ACE lacking the transmembrane domain has been reported. We show evidence for the existence of an mRNA specific for this isoform produced by alternative splicing. In human umbilical vein endothelial cells, two ACE mRNAs of different length (4.3 and 3.5 kb) were detected by Northern blot. Ribonuclease protection assays and the sequence of a PCR-amplified cDNA fragment show that the shortened ACE mRNA lacks the exons coding for the transmembrane domain of the protein. As this mRNA could be the source of soluble ACE, plasma ACE activity may be regulated on the level of mRNA processing. (C) 1998 Academic Press.
C1 Max Delbruck Ctr Mol Med, D-13122 Berlin, Germany.
C3 Helmholtz Association; Max Delbruck Center for Molecular Medicine
RP Sugimura, K (corresponding author), Max Delbruck Ctr Mol Med, Robert Rossle Str 10, D-13122 Berlin, Germany.
EM sugimura@mdc.berlin.de
RI Tian, Xiaoli/MIP-5310-2025; Bader, Michael/K-2124-2013
OI Bader, Michael/0000-0003-4780-4164
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NR 41
TC 28
Z9 33
U1 0
U2 1
PU ACADEMIC PRESS INC
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD JUN 18
PY 1998
VL 247
IS 2
BP 466
EP 472
DI 10.1006/bbrc.1998.8813
PG 7
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA ZV933
UT WOS:000074356400051
PM 9642152
DA 2025-04-10
ER

PT J
AU Golubinskaya, V
   Vontell, R
   Supramaniam, V
   Wyatt-Ashmead, J
   Gustafsson, H
   Mallard, C
   Nilsson, H
AF Golubinskaya, Veronika
   Vontell, Regina
   Supramaniam, Veena
   Wyatt-Ashmead, Josephine
   Gustafsson, Helena
   Mallard, Carina
   Nilsson, Holger
TI Bestrophin-3 Expression in a Subpopulation of Astrocytes in the Neonatal
   Brain After Hypoxic-Ischemic Injury
SO FRONTIERS IN PHYSIOLOGY
LA English
DT Article
DE bestrophin-3 (Best3); alternative splicing; astroglia; endoplasmic
   reticulum (ER) stress; hypoxiaischemia
ID ENDOPLASMIC-RETICULUM STRESS; WHITE-MATTER INJURY; GLUTAMATE RELEASE;
   CELL-DEATH; CHANNEL; PROTEIN; ACTIVATION; MOUSE; MECHANISMS; MICROGLIA
AB Bestrophin-3, a potential candidate for a calcium-activated chloride channel, recently was suggested to have cell-protective functions. We studied the expression and alternative splicing of bestrophin-3 in neonatal mouse brain and after hypoxic-ischemic (HI) injury and in human neonatal brain samples. HI brain injury was induced in 9-day old mice by unilateral permanent common carotid artery occlusion in combination with exposure to 10% oxygen for 50 min. Endoplasmic reticulum stress was induced by thapsigargin treatment in primary culture of mouse brain astrocytes. We also investigated expression of bestrophin-3 protein in a sample of human neonatal brain tissue. Bestrophin-3 protein expression was detected with immunohistochemical methods and western blot; mRNA expression and splicing were analyzed by RT-PCR. HI induced a brain tissue infarct and a pronounced increase in the endoplasmic reticulum-associated marker CHOP. Three days after HI a population of astrocytes co-expressed bestrophin-3 and nestin in a penumbra-like area of the injured hemisphere. However, total levels of Bestrophin-3 protein in mouse cortex were reduced after injury. Mouse astrocytes in primary culture also expressed bestrophin-3 protein, the amount of which was reduced by endoplasmic reticulum stress. Bestrophin-3 protein was detected in astrocytes in the hippocampal region of the human neonatal brain which had patchy white matter gliosis and neuronal loss in the Sommer's sector of the Ammon's horn (CA1). Analysis of bestrophin-3 mRNA in mouse brain with and without injury showed the presence of two truncated spliced variants, but no full-length mRNA. Total amount of bestrophin-3 mRNA increased after HI, but showed only minor injury-related change. However, the splice variants of bestrophin-3 mRNA were differentially regulated after HI depending on the presence of tissue injury. Our results show that bestrophin-3 is expressed in neonatal mouse brain after injury and in the human neonatal brain with pathology. In mouse brain bestrophin-3 protein is upregulated in a specific astrocyte population after injury and is co-expressed with nestin. Splice variants of bestrophin-3 mRNA respond differently to HI, which might indicate their different roles in tissue injury.
C1 [Golubinskaya, Veronika; Gustafsson, Helena; Mallard, Carina; Nilsson, Holger] Univ Gothenburg, Dept Physiol, Inst Neurosci & Physiol, Sahlgrenska Acad, Gothenburg, Sweden.
   [Vontell, Regina; Supramaniam, Veena] St Thomas Hosp, Div Imaging Sci 8 Biomed Engn, Ctr Developing Brain, Kings Coll London,Kings Hlth Partners, London, England.
   [Wyatt-Ashmead, Josephine] Imperial Coll Healthcare NHS Trust, Wigglesworth Perinatal Padiatr Pathol Serv, London, England.
C3 University of Gothenburg; Guy's & St Thomas' NHS Foundation Trust;
   University of London; King's College London; Imperial College London
RP Golubinskaya, V (corresponding author), Univ Gothenburg, Dept Physiol, Inst Neurosci & Physiol, Sahlgrenska Acad, Gothenburg, Sweden.
EM veronika.golubinskaya@gu.se
RI M, C/IVU-7831-2023; Gustafsson, Helena/AAK-2109-2020; Nilsson,
   Holger/G-2071-2011
OI Vontell, Regina/0000-0002-2664-8265
FU Vetenskapsradet [2012-2992]; Swedish Government; county councils [ALFGBG
   432291]; Leducq Foundation [DSRR_P34404]; Swedish Brain Foundation
   [FO2014-008]; Torsten Soderberg Foundation [M98/15]; Ahlen Foundation;
   (HN); Stiftelsen Wilhelm ochMartina Lundgrens Vetenskapsfond; Stiftelsen
   Fru Mary von Sydows; Svenska Frimurare Barnhusdirektionen i Goteborg
FX This study was supported by grants from Vetenskapsradet (2012-2992), CM,
   http://www.vr.se, Swedish state under the agreement between the Swedish
   Government and the county councils, the ALF-agreement (ALFGBG 432291),
   CM, http://www.fou.nu/is/alfgbg, Leducq Foundation (DSRR_P34404), CM,
   https://www.fondationleducq.org, Swedish Brain Foundation (FO2014-008),
   CM, http://www.hjarnfonden.se, Torsten Soderberg Foundation (M98/15),
   CM, http://www.torstensoderbergsstiftelse.se, Ahlen Foundation (CM and
   HN) http://www.ahlen-stiftelsen.se/index.html, Stiftelsen Wilhelm
   ochMartina Lundgrens Vetenskapsfond (VG, CM, and HN)
   http://www.wmlundgren.se, Stiftelsen Fru Mary von Sydows, fodd Wijk,
   donationsfond (VG) http://www.maryvonsydowstiftelsen.se, Svenska
   Frimurare Barnhusdirektionen i Goteborg (VG)
   https://www.frimurarorden.se/loger/tredje-fordelningen/gota-provinsiallo
   ge/caritas.The funders had no role in study design, data collection and
   analysis, decision to publish, or preparation of the manuscript.
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NR 44
TC 6
Z9 7
U1 0
U2 8
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-042X
J9 FRONT PHYSIOL
JI Front. Physiol.
PD JAN 29
PY 2019
VL 10
AR 23
DI 10.3389/fphys.2019.00023
PG 14
WC Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology
GA HJ4UH
UT WOS:000457170400001
PM 30761013
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Wang, X
   Zhang, JJ
   Qian, JA
   Cao, J
   Zhang, W
   Jiang, Y
AF Wang, Xue
   Zhang, Jingjing
   Qian, Jianan
   Cao, Ji
   Zhang, Wei
   Jiang, Yan
TI The Regulatory Mechanism and Effect of Receptor-Interacting Protein
   Kinase 3 on Phenylephrine-Induced Cardiomyocyte Hypertrophy
SO JOURNAL OF CARDIOVASCULAR PHARMACOLOGY
LA English
DT Article
DE calcium; calmodulin-dependent protein kinase II; cardiomyocyte
   hypertrophy; necroptosis; oxidative stress; receptor-interacting protein
   kinase 3
ID HEART-FAILURE; CELL-DEATH; CAMKII; NECROPTOSIS; INHIBITION
AB As a critical regulatory molecule, receptor-interacting protein kinase 3 (RIPK3) can mediate the signaling pathway of programmed necrosis. Calcium/calmodulin-dependent protein kinase II (CaMKII) has been proved as a new substrate for RIPK3-induced necroptosis. In this study, we aimed to investigate the regulatory mechanism of RIPK3 on phenylephrine (PE)-induced cardiomyocyte hypertrophy. Cardiomyocyte hypertrophy was induced by exposure to PE (100 mu M) for 48 hours. Primary cardiomyocytes were pretreated with RIPK3 inhibitor GSK ' 872 (10 mu M), and RIPK3 siRNA was used to deplete the intracellular expression of RIPK3. The indexes related to myocardial hypertrophy, cell injury, necroptosis, CaMKII activation, gene expression, oxidative stress, and mitochondrial membrane potential were measured. We found that after cardiomyocytes were stimulated by PE, the expressions of hypertrophy markers, atrial and brain natriuretic peptides (ANP and BNP), were increased, the release of lactate dehydrogenase was increased, the level of adenosine triphosphate (ATP) was decreased, the oxidation and phosphorylation levels of CaMKII were increased, and CaMKII delta alternative splicing was disturbed. However, both GSK ' 872 and depletion of RIPK3 could reduce myocardial dysfunction, inhibit CaMKII activation and necroptosis, and finally alleviate myocardial hypertrophy. In addition, the pretreatment of RIPK3 could also lessen the accumulation of reactive oxygen species (ROS) induced by PE and stabilize the membrane potential of mitochondria. These results indicated that targeted inhibition of RIPK3 could suppress the activation of CaMKII and reduce necroptosis and oxidative stress, leading to alleviated myocardial hypertrophy. Collectively, our findings provided valuable insights into the clinical treatment of hypertrophic cardiomyopathy.
C1 [Wang, Xue; Zhang, Jingjing; Qian, Jianan; Cao, Ji; Zhang, Wei] Nantong Univ, Sch Pharm, Nantong 226001, Jiangsu, Peoples R China.
   [Zhang, Jingjing; Zhang, Wei] Nantong Univ, Sch Med, Nantong, Jiangsu, Peoples R China.
   [Jiang, Yan] Nantong Univ, Dept Cardiovascularol, Affiliated Hosp, Nantong 226001, Jiangsu, Peoples R China.
C3 Nantong University; Nantong University; Nantong University
RP Zhang, W (corresponding author), Nantong Univ, Sch Pharm, Nantong 226001, Jiangsu, Peoples R China.; Jiang, Y (corresponding author), Nantong Univ, Dept Cardiovascularol, Affiliated Hosp, Nantong 226001, Jiangsu, Peoples R China.
EM zhangw@ntu.edu.cn; jiangyan.2008.love@163.com
RI Zhang, Wei/JKI-3565-2023
FU National Natural Science Foundation of China [81873470, 82070418]
FX The work was funded by grants (81873470 and 82070418) from the National
   Natural Science Foundation of China.
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NR 64
TC 6
Z9 6
U1 0
U2 18
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0160-2446
EI 1533-4023
J9 J CARDIOVASC PHARM
JI J. Cardiovasc. Pharmacol.
PD AUG
PY 2022
VL 80
IS 2
BP 236
EP 250
DI 10.1097/FJC.0000000000001293
PG 15
WC Cardiac & Cardiovascular Systems; Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Pharmacology & Pharmacy
GA 3P1VI
UT WOS:000837328800012
PM 35561290
DA 2025-04-10
ER

PT J
AU Citterio, L
   Tizzoni, L
   Catalano, M
   Zerbini, G
   Bianchi, G
   Barlassina, C
AF Citterio, L
   Tizzoni, L
   Catalano, M
   Zerbini, G
   Bianchi, G
   Barlassina, C
TI Expression analysis of the human adducin gene family and evidence of
   ADD2 β4 multiple splicing variants
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE adducin; alternative splicing variants; real-time quantitative RT-PCR;
   hypertension; genetics
ID LOW-RENIN HYPERTENSION; 3 CANDIDATE GENES; ALPHA-ADDUCIN; GLY460TRP
   POLYMORPHISM; GENOMIC ORGANIZATION; WHITE-POPULATION; DIURETIC THERAPY;
   POINT MUTATIONS; ACTIN-FILAMENTS; K+-ATPASE
AB Adducin is a cytoskeleton heterodimeric protein. its subunits are encoded by three related genes (ADD1, ADD2, and ADD3) which show alternative spliced variants. Adducin polymorphisms are involved in blood pressure regulation in humans and rats. We have analyzed mRNA distribution of ADD gene family in human tissues and cells with Real-Time TaqMan RT-PCR. Whereas ADD1 is ubiquitously distributed, ADD3 is more expressed in kidney medulla and cortex than in fetal kidney, while in adult liver it is less abundant than in fetal liver. ADD2 beta1 and beta4 variants show the same pattern of distribution with the highest expression in brain, fetal liver, and kidney. Conventional RT-PCR identified new beta4 variants. beta4a is characterized by an in-frame insertion of 21 nucleotides upstream exon 15 predicting a 7 amino acids longer protein with a similar C-terminus region. It is coexpressed with beta1 and beta4 in several tissues. Fetal kidney shows further beta4b, beta4c and beta4d variants containing internal exon deletions that enormously modify the predicted NH2 and central regions. Our findings could help one to understand the functional role of adducin variants in specific tissues and cells. (C) 2003 Elsevier Inc. All rights reserved.
C1 Univ Vita Salute, Hosp San Raffaele, Div Nephrol Dialysis & Hypertens, Milan, Italy.
   Univ Vita Salute, Hosp San Raffaele, Dept Psychiat, Milan, Italy.
   Hosp San Raffaele, Div Med, Renal Pathophysiol Lab, I-20132 Milan, Italy.
   Univ Milan, Dipartimento Sci & Tecnol Biomed, Milan, Italy.
C3 Vita-Salute San Raffaele University; IRCCS Ospedale San Raffaele;
   Vita-Salute San Raffaele University; IRCCS Ospedale San Raffaele;
   Vita-Salute San Raffaele University; IRCCS Ospedale San Raffaele;
   University of Milan; Consiglio Nazionale delle Ricerche (CNR); Istituto
   di Tecnologie Biomediche (ITB-CNR)
RP Citterio, L (corresponding author), Univ Vita Salute, Hosp San Raffaele, Div Nephrol Dialysis & Hypertens, Milan, Italy.
RI Citterio, Lorena/AAC-1589-2019
OI Bianchi, Giuseppe/0000-0002-8365-3618; Barlassina,
   Cristina/0000-0001-7407-2697; Citterio, Lorena/0000-0001-6455-2291
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NR 47
TC 19
Z9 23
U1 0
U2 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD SEP 19
PY 2003
VL 309
IS 2
BP 359
EP 367
DI 10.1016/j.bbrc.2003.08.011
PG 9
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 720MJ
UT WOS:000185264300015
PM 12951058
DA 2025-04-10
ER

PT J
AU Ferlini, A
   Galié, N
   Merlini, L
   Sewry, C
   Branzi, A
   Muntoni, F
AF Ferlini, A
   Galié, N
   Merlini, L
   Sewry, C
   Branzi, A
   Muntoni, F
TI A novel Alu-like element rearranged in the dystrophin gene causes
   a splicing mutation in a family with X-linked dilated cardiomyopathy
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID DUCHENNE MUSCULAR-DYSTROPHY; MESSENGER-RNA; MEDIATED INSERTION; DNA
   AMPLIFICATION; L1 ELEMENT; SEQUENCES; DELETION; LOCUS; MECHANISM; INTRON
AB We have identified and characterized a genomic sequence with some features typical of Alu-like mobile elements rearranged into the dystrophin gene in a family affected by X-linked dilated cardiomyopathy. The Alu-like sequence rearrangement occurred 2.4 kb downstream from the 5' end of intron 11 of the dystrophin gene. This rearrangement activated one cryptic splice site in intron 11 and produced an alternative transcript containing the Alu-like sequence and part of the adjacent Intron la, spliced between exons 11 and 12. Translation of this alternative transcript is truncated because of the numerous stop codons present in every frame of the Alu-like sequence. Only the mutant mRNA was detected in the heart muscle, but in the skeletal muscle it coexisted with the normal one. This result is supported by the immunocytochemical findings, which failed to detect dystrophin in the patient's cardiac muscle but showed expression of a reduced level of protein in the skeletal muscle. Comparative analysis of the Alu-like sequence showed high homology with other repeated-element-containing regions and with several expressed sequence tags. We suggest that this Alu-like sequence could represent a novel class of repetitive elements, reiterated and clustered with some known mobile elements-and capable of transposition. Our report underlines the complexity of the pathogenic mechanism leading to X-linked dilated cardiomyopathy but suggests that differences in tissue-specific expression of dystrophin mutations may be a common feature in this condition.
C1 Imperial Coll Sci Technol & Med, Sch Med, Dept Paediat & Neonatal Med, London, England.
   Hammersmith Hosp, MRC, Ctr Clin Sci, Muscle Cell Biol Grp, London, England.
   Univ Bologna, Ist Malattie Apparato Cardiovasc, Bologna, Italy.
   Ist Ortoped Rizzoli, Bologna, Italy.
C3 Imperial College London; Imperial College London; University of Bologna;
   IRCCS Istituto Ortopedico Rizzoli
RP Ferlini, A (corresponding author), Hammersmith Hosp, Dept Paediat & Neonatal Med, Neuromuscular Unit, Du Cane Rd, London W12 0NN, England.
RI Merlini, Luciano/N-6478-2019; MERLINI, LUCIANO/O-2944-2013; Galie,
   Nazzareno/F-7004-2014; FERLINI, ALESSANDRA/K-7532-2016
OI MERLINI, LUCIANO/0000-0002-1108-1198; Galie,
   Nazzareno/0000-0003-4271-8670; FERLINI, ALESSANDRA/0000-0001-8385-9870
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NR 46
TC 64
Z9 69
U1 0
U2 2
PU UNIV CHICAGO PRESS
PI CHICAGO
PA 5801 S ELLIS AVENUE, CHICAGO, IL 60637 USA
SN 0002-9297
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD AUG
PY 1998
VL 63
IS 2
BP 436
EP 446
DI 10.1086/301952
PG 11
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 110CB
UT WOS:000075360800019
PM 9683584
OA Bronze, Green Accepted, Green Published
DA 2025-04-10
ER

PT J
AU Yates, DM
   Wolstenholme, AJ
AF Yates, DM
   Wolstenholme, AJ
TI An ivermectin-sensitive glutamate-gated chloride channel subunit from
   Dirofilaria immitis
SO INTERNATIONAL JOURNAL FOR PARASITOLOGY
LA English
DT Article
DE filaria; dirofilaria immitis; ivermectin receptor; drug target;
   alternative splicing
ID NEMATODE HAEMONCHUS-CONTORTUS; CAENORHABDITIS-ELEGANS; ION CHANNELS;
   AVERMECTIN; CLONING; BINDING; GENE; DOMAINS
AB Dirofilaria immitis is a filarial nematode that infects dogs and causes cardiopulmonary disease. The most effective way of controlling the infection is by chemoprophylaxis, using members of the avermectin/milbemycin (A/M) class of anthelmintics, which includes ivermectin; these drugs act at invertebrate glutamate-gated chloride channels (GluCl). We have cloned two cDNAs encoding D. immitis GluCl subunits and demonstrated that at least one may be an important molecular target for the A/Ms in vivo. The subunits are orthologues of the alternatively spliced GluClalpha3A and alpha3B subunits (encoded by the avr-14 gene) previously identified in Caenorhabditis elegans and in Haemonchus contortus. Although the alternative splicing of avr-14 is conserved across the species, the processing of the mature GluClalpha3A mRNA differs in D. immitis compared to C. elegans and H. contortus. Two-electrode voltage clamp recordings were made from Xenopus oocytes injected with subunit-specific cRNAs. The DiGluCIalpha3B subunit formed channels that were gated by L-glutamate (1 - 100 mM) and ivermectin (1 muM). Oocytes injected with DiGluClalpha3A cRNA failed to respond to L-glutamate. The qualitative responses obtained were consistent with the pharmacology observed for the GluClalpha3 subunits from C. elegans and H. contortus. (C) 2004 Australian Society for Parasitology Inc. Published by Elsevier Ltd. All rights reserved.
C1 Univ Bath, Dept Biol & Biochem, Bath BA2 7AY, Avon, England.
C3 University of Bath
RP Univ Bath, Dept Biol & Biochem, Bath BA2 7AY, Avon, England.
EM a.j.wolstenholme@bath.ac.uk
RI Wolstenholme, Adrian/AAY-1611-2020
OI Yates, Darran/0000-0002-6876-4088
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NR 27
TC 46
Z9 67
U1 1
U2 8
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0020-7519
EI 1879-0135
J9 INT J PARASITOL
JI Int. J. Parasit.
PD AUG
PY 2004
VL 34
IS 9
BP 1075
EP 1081
DI 10.1016/j.ijpara.2004.04.010
PG 7
WC Parasitology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Parasitology
GA 852IO
UT WOS:000223749200009
PM 15313134
DA 2025-04-10
ER

PT J
AU Schmid, D
   Stolzlechner, M
   Sorgner, A
   Bentele, C
   Assinger, A
   Chiba, P
   Moeslinger, T
AF Schmid, Diethart
   Stolzlechner, Michael
   Sorgner, Albin
   Bentele, Caterina
   Assinger, Alice
   Chiba, Peter
   Moeslinger, Thomas
TI An abundant, truncated human sulfonylurea receptor 1 splice variant has
   prodiabetic properties and impairs sulfonylurea action
SO CELLULAR AND MOLECULAR LIFE SCIENCES
LA English
DT Article
DE Sulfonylurea receptor; Alterative splicing; ATP-sensitive potassium
   channels; Glibenclamide; Glucose-induced insulin release
ID SENSITIVE POTASSIUM CHANNELS; PANCREATIC BETA-CELL; K-ATP CHANNELS;
   DIABETES-MELLITUS; SUBUNITS KIR6.2; BINDING-SITE; TRAFFICKING; PROTEIN;
   HYPERINSULINISM; IDENTIFICATION
AB An alternatively spliced form of human sulfonylurea receptor (SUR) 1 mRNA lacking exon 2 (SUR1 Delta 2) has been identified. The omission of exon 2 caused a frame shift and an immediate stop codon in exon 3 leading to translation of a 5.6-kDa peptide that comprises the N-terminal extracellular domain and the first transmembrane helix of SUR1. Based on a weak first splice acceptor site in the human SUR1 gene (ABCC8), RT-PCR revealed a concurrent expression of SUR1 Delta 2 and SUR1. The SUR1 Delta 2/(SUR1 + SUR1 Delta 2) mRNA ratio differed between tissues, and was lowest in pancreas (46%), highest in heart (88%) and negatively correlated with alternative splice factor/splicing factor 2 (ASF/SF2) expression. In COS-7 cells triple transfected with SUR1 Delta 2/SUR1/Kir6.2, the SUR1 Delta 2 peptide co-immunoprecipitated with Kir6.2, thereby displacing two of four SUR1 subunits on the cell surface. The ATP sensitivity of these hybrid ATP-sensitive potassium channels (K-ATP) channels was reduced by about sixfold, as shown with single-channel recordings. RINm5f rat insulinoma cells, which genuinely express SUR1 but not SUR1 Delta 2, exhibited a strongly increased K-ATP channel current upon transfection with SUR1 Delta 2. This led to inhibition of glucose-induced depolarization, calcium flux, insulin release and glibenclamide action. A non-mutagenic SNP on nucleotide position 333 (Pro69Pro) added another exonic splicing enhancer sequence detected by ASF/SF2, reduced relative abundance of SUR1 Delta 2 and slightly protected from non-insulin dependent diabetes in homozygotic individuals. Thus, SUR1 Delta 2 represents an endogenous K-ATP-channel modulator with prodiabetic properties in islet cells. Its predominance in heart may explain why high-affinity sulfonylurea receptors are not found in human cardiac tissue.
C1 [Schmid, Diethart; Stolzlechner, Michael; Sorgner, Albin; Assinger, Alice; Moeslinger, Thomas] Med Univ Vienna, Inst Physiol, Ctr Physiol & Pharmacol, Vienna, Austria.
   [Bentele, Caterina; Chiba, Peter] Med Univ Vienna, Inst Med Chem, Ctr Pathobiochem & Genet, Vienna, Austria.
C3 Medical University of Vienna; Medical University of Vienna
RP Schmid, D (corresponding author), Med Univ Vienna, Inst Physiol, Ctr Physiol & Pharmacol, Vienna, Austria.
EM diethart.schmid@meduniwien.ac.at
RI Chiba, Peter/ABA-7347-2020; Schmid, Diethart/C-5049-2009; Moeslinger,
   Thomas/C-2769-2009
OI Assinger, Alice/0000-0002-5670-5910; Moeslinger,
   Thomas/0000-0002-8730-4001; Schmid, Diethart/0000-0002-2225-9836
FU Austrian Ministry of Science
FX Both Michael Stolzlechner and Albin Sorgner received a research grant
   from the Austrian Ministry of Science.
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NR 49
TC 8
Z9 10
U1 1
U2 3
PU SPRINGER BASEL AG
PI BASEL
PA PICASSOPLATZ 4, BASEL, 4052, SWITZERLAND
SN 1420-682X
EI 1420-9071
J9 CELL MOL LIFE SCI
JI Cell. Mol. Life Sci.
PD JAN
PY 2012
VL 69
IS 1
BP 129
EP 148
DI 10.1007/s00018-011-0739-x
PG 20
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 870EV
UT WOS:000298652800012
PM 21671119
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Yuen, SL
   Ogut, O
   Brozovich, FV
AF Yuen, Samantha L.
   Ogut, Ozgur
   Brozovich, Frank V.
TI Differential phosphorylation of LZ+/LZ-MYPT1 isoforms regulates MLC
   phosphatase activity
SO ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
LA English
DT Article
DE Nitric oxide; Vasodilatation; Vascular tone; Vascular reactivity
ID LIGHT-CHAIN PHOSPHATASE; SMOOTH-MUSCLE MYOSIN; PULMONARY
   ARTERIAL-HYPERTENSION; HEART-FAILURE; CA2+ SENSITIZATION;
   BLOOD-PRESSURE; NITRIC-OXIDE; CGMP; SUBUNIT; KINASE
AB The vascular response to NO is due, in part, to a Ca2+ independent activation of myosin light chain (MLC) phosphatase, a trimeric enzyme of 20 kDa, 38 kDa catalytic and 110-130 kDa myosin targeting (MYPT1) subunits. Alternative mRNA splicing produces MYPT1 isoforms that differ by the presence or absence of a central insert (CI) and a leucine zipper (12), and the presence of a LZ+ MYPT1 isoform is important for protein kinase G (PKG) mediated activation of MLC phosphatase. This study was designed to determine the molecular basis for the differential sensitivity of the vasculature to NO. Our results demonstrate that the presence of the MYPT1 LZ domain is required for PKG to both phosphorylate MYPT1 at S668 and activate MLC phosphatase. Further for LZ+ MYPT1 isoforms, an S668A MYPT1 mutation prevents the PKG mediated, Ca2+ independent activation of MLC phosphatase. These data demonstrate that differential PKG mediated S668 phosphorylation of LZ+/LZ- MYPT1 isoforms could be important for determining the diversity in the sensitivity of the vasculature to NO mediated vasodilatation. Thus, the relative expression of LZ+/LZ- MYPT1 isoforms, in part, defines the vascular response to NO and NO based vasodilators, and therefore, plays a role in the regulation of vascular tone in both health and disease. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Yuen, Samantha L.; Ogut, Ozgur; Brozovich, Frank V.] Mayo Clin & Mayo Fdn, Mayo Med Sch, Div Cardiovasc Dis, Rochester, MN 55905 USA.
C3 Mayo Clinic
RP Brozovich, FV (corresponding author), Mayo Clin, Stabile 5,200 1st St SW, Rochester, MN 55905 USA.
EM brozovich.frank@mayo.edu
RI OGUT, OZGE/KHC-3887-2024
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NR 44
TC 22
Z9 26
U1 0
U2 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0003-9861
EI 1096-0384
J9 ARCH BIOCHEM BIOPHYS
JI Arch. Biochem. Biophys.
PD NOV 15
PY 2014
VL 562
BP 37
EP 42
DI 10.1016/j.abb.2014.08.011
PG 6
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA AR1RN
UT WOS:000343362400005
PM 25168281
DA 2025-04-10
ER

PT J
AU Wulff, JP
   Sierra, I
   Sterkel, M
   Holtof, M
   Van Wielendaele, P
   Francini, F
   Vanden Broeck, J
   Ons, S
AF Pedro Wulff, Juan
   Sierra, Ivana
   Sterkel, Marcos
   Holtof, Michiel
   Van Wielendaele, Pieter
   Francini, Flavio
   Vanden Broeck, Jozef
   Ons, Sheila
TI Orcokinin neuropeptides regulate ecdysis in the hemimetabolous insect
   Rhodnius prolixus
SO INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY
LA English
DT Article
DE Chagas' disease; Post-embryonic development; Molting; Brain-gut
   neuropeptides; RNA interference (RNAi)
ID CRUSTACEAN CARDIOACTIVE PEPTIDE; CHAGAS-DISEASE VECTOR; REFERENCE GENES;
   ORCHESTRATION
AB To grow and develop insects must undergo ecdysis. During this process, the individual sheds the old cuticle to emerge as the following developmental stage. During ecdysis, different programed behaviors are regulated by neuropeptidergic pathways. In general, components of these pathways are better characterized in crustacean and holometabolous insects than in hemimetabola. In insects, the orkoninin gene produces two different neuropeptide precursors by alternative splicing: orcokinin A and orcokinin B. Although orcokinins are well conserved in insect species, their physiological role remains elusive. Here we describe a new splicing variant of the orcokinin gene in the hemimetabolous triatomine Rhodnius prolixus. We further analyze the expression pattern and the function of the alternatively spliced RhoprOK transcripts by means of immunohistochemistry and RNAi-mediated gene silencing. Our results indicate that orkoninis play an essential role in the peptidergic signaling pathway regulating ecdysis in the hemimetabolous insect Rhodnius prolixus. (C) 2017 Elsevier Ltd. All rights reserved.
C1 [Pedro Wulff, Juan; Sierra, Ivana; Ons, Sheila] Natl Univ La Plata, Fac Exact Sci, Reg Ctr Genom Studies, Lab Genet & Funct Genom, Bvd 120 & 62, RA-1900 La Plata, Buenos Aires, Argentina.
   [Sterkel, Marcos] Univ Fed Rio de Janeiro, Inst Med Biochem, Av Carlos Chagas Filho 373,Bloco D,Predio CCS, BR-21941902 Rio De Janeiro, Brazil.
   [Holtof, Michiel; Van Wielendaele, Pieter; Vanden Broeck, Jozef] Katholieke Univ Leuven, Inst Zool, Div Anim Physiol & Neurobiol, Mol Dev Physiol & Signal Transduct, Leuven, Belgium.
   [Francini, Flavio] Natl Univ La Plata, Sch Med, Ctr Expt & Appl Endocrinol, 60 St & 120, RA-1900 La Plata, Buenos Aires, Argentina.
C3 National University of La Plata; Universidade Federal do Rio de Janeiro;
   KU Leuven; National University of La Plata
RP Ons, S (corresponding author), Natl Univ La Plata, Fac Exact Sci, Reg Ctr Genom Studies, Lab Genet & Funct Genom, Bvd 120 & 62, RA-1900 La Plata, Buenos Aires, Argentina.
EM juanpwulff@gmail.com; sierra.ivana@gmail.com; sterkel@bioqmed.ufrj.br;
   michiel.holtof@bio.kuleuven.be; pieter.vanwielendaele@bio.kuleuven.be;
   f_francini@yahoo.com; Jozef.VandenBroeck@bio.kuleuven.be;
   sheila.ons@presi.unlp.edu.ar
RI Vanden Broeck, Jozef/JVO-5929-2024; Ons, Sheila/ABI-2195-2020; Wulff,
   Juan Pedro/KXQ-9656-2024
OI Ons, Sheila/0000-0002-4269-8318; Vanden Broeck,
   Jozef/0000-0001-7653-0516; Van Wielendaele, Pieter/0000-0003-1492-6165
FU Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET)
   [PIP 2012-2014 049]; Agencia Nacional de Ciencia y Tecnologia (ANPCyT)
   [PICT2011-194, PICT2014-1399]; Interuniversity Attraction Poles program
   (Belgian Science Policy) [IAP P7/40]; PhD fellowship of the IWT (Agency
   for Innovation by Science and Technology, Flanders - Belgium);
   International Research Collaboration between Argentina and Flanders
   [1204/VS.045.16N, 1505]
FX We thank Raul Stariolo and Patricia Lobbia from Centro de Referencia de
   Vectores, for their generous assistance in the rearing of insects, and
   to Natalia Esponda for the illustration on Rhodnius prolixus CNS. This
   work was supported by grants from the Consejo Nacional de
   Investigaciones Cientificas y Tecnicas (CONICET Grant PIP 2012-2014 049
   to S.O), Agencia Nacional de Ciencia y Tecnologia (ANPCyT Grant
   PICT2011-194 and PICT2014-1399 to S.O), the Interuniversity Attraction
   Poles program (Belgian Science Policy Grant IAP P7/40 to J.VdB), and the
   International Research Collaboration between Argentina and Flanders
   (MINCyT and FWO: grant number 1204/VS.045.16N and 1505 to S.O. and
   J.VdB). S.O. and F.F are investigators of the CONICET. J.P.W is a
   recipient of a research fellowship from CONICET. I.S is supported by a
   fellowship from CONICET. M.H. was supported by a PhD fellowship of the
   IWT (Agency for Innovation by Science and Technology, Flanders -
   Belgium).
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NR 32
TC 34
Z9 35
U1 1
U2 48
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0965-1748
EI 1879-0240
J9 INSECT BIOCHEM MOLEC
JI Insect Biochem. Mol. Biol.
PD FEB
PY 2017
VL 81
BP 91
EP 102
DI 10.1016/j.ibmb.2017.01.003
PG 12
WC Biochemistry & Molecular Biology; Entomology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Entomology
GA EL2YC
UT WOS:000394485700010
PM 28089691
OA Green Published
DA 2025-04-10
ER

PT J
AU Carlson, NG
   Howard, J
   Gahring, LC
   Rogers, SW
AF Carlson, NG
   Howard, J
   Gahring, LC
   Rogers, SW
TI RNA editing (Q/R site) and flop/flip splicing of AMPA receptor
   transcripts in young and old brains
SO NEUROBIOLOGY OF AGING
LA English
DT Article
DE GluR; AMPA; RT-PCR; restriction endonuclease; agarose gel
   electrophoresis; densitometry
ID GLUTAMATE-OPERATED CHANNELS; AGE-RELATED-CHANGES; GLUR-B;
   CALCIUM-PERMEABILITY; GERBIL HIPPOCAMPUS; CEREBRAL-ISCHEMIA;
   MESSENGER-RNA; EXPRESSION; SUBUNITS; EPILEPSY
AB The effects of aging on the efficiency of RNA processing of AMPA glutamate receptor (GIuR) subunits GluR1, GluR2, and GluR3 was examined for RNA editing at the Q/R site of GluR2 and for alternative splicing of the flip or flop exons for GluR1-3. RNA isolated from six young (3 months old) and old (22-23 months old) animals was reverse-transcribed for PCR and restriction endonuclease analyses to distinguish between edited forms of GluR2 and flip/flop isoforms of GluR1-3. Unedited transcripts of GluR2 at the Q/R site (which controls calcium permeability) were not detected (at the limit of detection of greater than or equal to 2.5%) from the corticies and hippocampi of young and old animals Distribution of flop/flip isoforms in the cortex, hippocampus, hypothalamus, and striatum varied between GluR subunits and brain region, with GluR2 showing the greatest differences. However, no differences in alternative splicing of GluRs 1-3 were observed between young and old animals, suggesting that the fidelity of GIuR transcript processing remains intact in the brains of aged animals. (C) 2000 Elsevier Science Inc. All rights reserved.
C1 Vet Affairs Med Ctr, GRECC, Salt Lake City, UT 84148 USA.
   Univ Utah, Dept Neurobiol & Anat, Salt Lake City, UT USA.
   Univ Utah, Sch Med, Human Mol Biol & Genet Program, Salt Lake City, UT USA.
C3 US Department of Veterans Affairs; Veterans Health Administration (VHA);
   Geriatric Research Education & Clinical Center; Utah System of Higher
   Education; University of Utah; Utah System of Higher Education;
   University of Utah
RP Carlson, NG (corresponding author), Vet Affairs Med Ctr, GRECC, Salt Lake City, UT 84148 USA.
RI Carlson, Noel/W-2734-2019
FU NIA NIH HHS [AG04418, 1RO3AG14493] Funding Source: Medline; NINDS NIH
   HHS [NS35181] Funding Source: Medline
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NR 27
TC 30
Z9 42
U1 0
U2 2
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 655 AVENUE OF THE AMERICAS, NEW YORK, NY 10010 USA
SN 0197-4580
J9 NEUROBIOL AGING
JI Neurobiol. Aging
PD JUL-AUG
PY 2000
VL 21
IS 4
BP 599
EP 606
DI 10.1016/S0197-4580(00)00127-5
PG 8
WC Geriatrics & Gerontology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Geriatrics & Gerontology; Neurosciences & Neurology
GA 342VR
UT WOS:000088666300017
PM 10924778
DA 2025-04-10
ER

PT J
AU Sakudoh, T
   Tsuchida, K
   Kataoka, H
AF Sakudoh, T
   Tsuchida, K
   Kataoka, H
TI BmStart1, a novel carotenoid-binding protein isoform from Bombyx
   mori, is orthologous to MLN64, a mammalian cholesterol transporter
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE BmStart1; carotenoid-binding protein; MLN64; START domain; cocoon color
   evolution; TRAS; Bombyx
ID ACUTE REGULATORY PROTEIN; ECDYSTEROIDOGENIC PATHWAY;
   DROSOPHILA-MELANOGASTER; GOODPASTURE ANTIGEN; START DOMAIN; SILKWORM;
   GENOME; BIOSYNTHESIS; EXPRESSION; HOMOLOGY
AB Carotenoid-binding protein (CBP) from the silkworm Bombyx mori is an essential molecule for carotenoid dependent cocoon pigmentation. We identified a novel isoform of CBP, Start1 of B. mori (BmStart1). BmStart1 contains a membrane-spanning MENTAL domain in its N-terminus and a lipid-binding START domain in its C-terminus. This domain architecture is identical to the mammalian MLN64 and Start1 of Drosophila melanogaster BmStart1), both of which have been implicated to function in cholesterol transport and regulation of steroidogenesis. BmStart1 is expressed in both white and yellow cocoon strains of A mori, while CBP is only detected in the yellow cocoon strain. BmStart1 mRNA abundance in the prothoracic gland, the main ecdysteroidogenic tissue, positively correlates with changes in the hemolymph ecdysteroid level. Genomic sequence analysis revealed that BmStart1 and CBP are generated from the same gene locus by alternative splicing. Splice site comparison and homology search indicate that BmStart1 is orthologous to both MLN64 and DmStart1. This study implies that alternative splicing of the BmStart1/CBP gene generates unique protein isoforms whose endogenous ligands, sterol or carotenoid, are structurally different. (c) 2005 Elsevier Inc. All rights reserved.
C1 Univ Tokyo, Grad Sch Frontier Sci, Dept Integrated Biosci, Kashiwa, Chiba 2778562, Japan.
   Natl Inst Infect Dis, Dept Radiol Protect, Tokyo 1628640, Japan.
C3 University of Tokyo; National Institute of Infectious Diseases (NIID)
RP Univ Tokyo, Grad Sch Frontier Sci, Dept Integrated Biosci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778562, Japan.
EM kataoka@k.u-tokyo.ac.jp
RI Kataoka, Hiroshi/AAR-1444-2020
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NR 43
TC 23
Z9 30
U1 4
U2 20
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD NOV 4
PY 2005
VL 336
IS 4
BP 1125
EP 1135
DI 10.1016/j.bbrc.2005.08.241
PG 11
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 973IJ
UT WOS:000232515800020
PM 16169523
DA 2025-04-10
ER

PT J
AU Bhattarai, S
   Aly, A
   Garcia, K
   Ruiz, D
   Pontarelli, F
   Dharap, A
AF Bhattarai, Sunil
   Aly, Ahmed
   Garcia, Kristy
   Ruiz, Diandra
   Pontarelli, Fabrizio
   Dharap, Ashutosh
TI Deep Sequencing Reveals Uncharted Isoform Heterogeneity of the
   Protein-Coding Transcriptome in Cerebral Ischemia
SO MOLECULAR NEUROBIOLOGY
LA English
DT Article
DE Mouse; Ischemia; Cerebral cortex; RNA-sequencing; Gene expression
ID GENE-EXPRESSION; CELL-DEATH; STROKE; BRAIN; MOUSE; NEUROPROTECTION;
   CXCL16
AB Gene expression in cerebral ischemia has been a subject of intense investigations for several years. Studies utilizing probe-based high-throughput methodologies such as microarrays have contributed significantly to our existing knowledge but lacked the capacity to dissect the transcriptome in detail. Genome-wide RNA-sequencing (RNA-seq) enables comprehensive examinations of transcriptomes for attributes such as strandedness, alternative splicing, alternative transcription start/stop sites, and sequence composition, thus providing a very detailed account of gene expression. Leveraging this capability, we conducted an in-depth, genome-wide evaluation of the protein-coding transcriptome of the adult mouse cortex after transient focal ischemia at 6, 12, or 24h of reperfusion using RNA-seq. We identified a total of 1007 transcripts at 6h, 1878 transcripts at 12h, and 1618 transcripts at 24h of reperfusion that were significantly altered as compared to sham controls. With isoform-level resolution, we identified 23 splice variants arising from 23 genes that were novel mRNA isoforms. For a subset of genes, we detected reperfusion time-point-dependent splice isoform switching, indicating an expression and/or functional switch for these genes. Finally, for 286 genes across all three reperfusion time-points, we discovered multiple, distinct, simultaneously expressed and differentially altered isoforms per gene that were generated via alternative transcription start/stop sites. Of these, 165 isoforms derived from 109 genes were novel mRNAs. Together, our data unravel the protein-coding transcriptome of the cerebral cortex at an unprecedented depth to provide several new insights into the flexibility and complexity of stroke-related gene transcription and transcript organization.
C1 [Bhattarai, Sunil; Aly, Ahmed; Garcia, Kristy; Ruiz, Diandra; Pontarelli, Fabrizio; Dharap, Ashutosh] HackensackMeridian Hlth JFK Med Ctr, JFK Neurosci Inst, Lab Stroke Res & Noncoding RNA Biol, 65 James St, Edison, NJ 08820 USA.
RP Dharap, A (corresponding author), HackensackMeridian Hlth JFK Med Ctr, JFK Neurosci Inst, Lab Stroke Res & Noncoding RNA Biol, 65 James St, Edison, NJ 08820 USA.
EM ashutosh.dharap@hackensackmeridian.org
RI Dharap, Ashutosh/H-7466-2013
OI Dharap, Ashutosh/0000-0001-5223-3197
FU JFK Neuroscience Institute, Edison, NJ
FX This study was funded by the JFK Neuroscience Institute, Edison, NJ.
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NR 23
TC 7
Z9 7
U1 0
U2 5
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0893-7648
EI 1559-1182
J9 MOL NEUROBIOL
JI Mol. Neurobiol.
PD FEB
PY 2019
VL 56
IS 2
BP 1035
EP 1043
DI 10.1007/s12035-018-1147-0
PG 9
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA HN8TY
UT WOS:000460470300019
PM 29862458
DA 2025-04-10
ER

PT J
AU Ren, CT
   Li, DM
   Ou, SW
   Wang, YJ
   Lin, Y
   Zong, ZH
   Kameyama, M
   Kameyama, A
AF Ren, Cheng-Tao
   Li, Dong-Mei
   Ou, Shao-Wu
   Wang, Yun-Jie
   Lin, Yi
   Zong, Zhi-Hong
   Kameyama, Masaki
   Kameyama, Asako
TI Cloning and expression of the two new variants of Nav1.5/SCN5A in rat
   brain
SO MOLECULAR AND CELLULAR BIOCHEMISTRY
LA English
DT Article
DE Rat; Sodium channel; Alternative splicing; Distribution; Brain tissues
ID SODIUM-CHANNEL; MOLECULAR DIVERSITY; MESSENGER-RNAS; NA+ CHANNELS;
   SCN5A; EVOLUTION; MUSCLE; CELLS; CHANNELOPATHIES; MUTATIONS
AB The alpha-subunit of tetrodotoxin-resistant (TTX-R) voltage-gated sodium channel (VSGC, Nav1.5/SCN5A) has been found from the rat heart and human neuroblastoma cell line NB-1, but its expression in rat brain has not been identified radically. In this study, a reverse transcriptase-polymerase chain reaction was used to clone the full sequence of Nav1.5 (designated as rN1) alpha-subunit in rat brain and compared the distribution in different lobe of brain in different developmental stages. The open reading frame of rN1 encodes 2,016 amino acid residues and sequence analysis indicated that rN1 is highly homologous with 96.53% amino acids identity to rat cardiac Nav1.5 (rH1) and 96.13% amino acids identity to human neuroblastoma Nav1.5 (hNbR1). It has all the structural features of a VSGC and the presence of a cysteine residue (C373) in the pore loop region of domain I suggests that this channel is resistant to TTX. A new exon (exon6A) that is distinct from rH1 was found in DI-S3-S4, meanwhile an isomer of alternative splicing that deleted 53 amino acids (exon18) was found for the first time in domain DII-III in rN1. (designated as rN1-2). Distribution results demonstrated that rN1 expressed discrepancy in different ages and lobe in brain. The expression level of rN1 was gradually more stable in adult than in neonatal; these results suggest that rN1 has a newly identified exon for alternative splicing that is differentfrom rat heart and is more widely expressed in rat brain than previously thought.
C1 [Ou, Shao-Wu; Wang, Yun-Jie; Lin, Yi] China Med Univ, Affiliated Hosp 1, Dept Neurosurg, Shenyang, Peoples R China.
   [Ren, Cheng-Tao] Qingdao Univ, Affiliated Municipal Hosp, Coll Med, Dept Neurosurg, Qingdao 266071, Peoples R China.
   [Li, Dong-Mei] Qingdao Univ, Affiliated Municipal Hosp, Coll Med, Dept Neurol, Qingdao 266071, Peoples R China.
   [Zong, Zhi-Hong] China Med Univ, Dept Biochem & Mol Biol, Shenyang, Peoples R China.
   [Kameyama, Masaki; Kameyama, Asako] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Physiol, Kagoshima 890, Japan.
C3 China Medical University; Qingdao University; Qingdao University; China
   Medical University; Kagoshima University
RP Ou, SW (corresponding author), China Med Univ, Affiliated Hosp 1, Dept Neurosurg, Shenyang, Peoples R China.
EM shaowuou@hotmail.com
FU Department of Education of Liaoning Province China [05L500];
   Grants-in-Aid for Scientific Research [21390059] Funding Source: KAKEN
FX We would like to thank Professor Yao-Lu for assistance and guidance in
   gene cloning and Professor Wei-Wang for help with the figures. This work
   was supported by a grant from The Department of Education of Liaoning
   Province China (05L500).
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NR 34
TC 6
Z9 6
U1 0
U2 5
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0300-8177
EI 1573-4919
J9 MOL CELL BIOCHEM
JI Mol. Cell. Biochem.
PD JUN
PY 2012
VL 365
IS 1-2
BP 139
EP 148
DI 10.1007/s11010-012-1253-7
PG 10
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 934UO
UT WOS:000303472400016
PM 22331407
DA 2025-04-10
ER

PT J
AU Ivanov, A
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   Melnitchenko, LV
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AF Ivanov, A.
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   Melnitchenko, L. V.
   Gerzanich, V.
   Shuba, M. F.
   Simard, J. M.
TI PCNA Up-Regulation in Cerebral Vessels with Angiotensin II-Hypertension:
   Abnormal Regulation of Ca<SUP>2+</SUP> Channel and Nitrate Tolerance
   Associated with Alternative Splicing of cGKI
SO NEUROPHYSIOLOGY
LA English
DT Article
AB We studied the responses of the basilar arteries from control rats and from rats infused with angiotensin II (Ang; 240 mu g/kg/h x 4 weeks), which were hypertensive (137 +/- 13 vs 205 +/- 10 mm Hg). Ang-hypertensive rats (AHR) showed significant up-regulation of the expression of proliferative cell nuclear antigen (PCNA) (PCNA index, 0.65) in vascular smooth muscle cell (VSMC) layers. Both hypertension and PCNA up-regulation were absent in animals co-treated with the hydrophilic dihydropyridine Ca2+ channel blocker amlodipine (100 mg/liter in the drinking water). Quantitative patch-clamp analysis of freshly isolated VSMC showed a significant increase in L-type Ca2+ channel currents in AHR that was attributed to an increase in the open channel probability, with no change in other biophysical properties, pharmacological characteristics, or in the channel expression. Compared with controls, regulation of Ca2+ channels in AHR was abnormal, with nitrate tolerance manifested as a reduction in down-regulation of the Ca2+ channel activity in response to the NO donor Na nitroprusside. A diminished sensitivity to 8-Br-cGMP was also observed, consistent with a mechanism downstream of soluble guanylyl cyclase. The nitrate tolerance was found to be attributable to alternative splicing of cGKI, with a decrease in the cGKIalpha expression and an increase in the cGKIbeta expression, with the latter known to be less sensitive to activation by cGMP and related analogs. We conclude that the increase in the proliferative response of VSMC in AHR is associated with an abnormal response to NO by VSMC due to alternative splicing of cGKI, resulting in an increase in the Ca2+ channel activation and up-regulation of the pro-proliferative Ca2+-sensitive gene for PCNA.
C1 [Ivanov, A.; Ivanova, S.; Melnitchenko, L. V.; Gerzanich, V.; Simard, J. M.] Univ Maryland, Baltimore, MD 21201 USA.
   [Shuba, M. F.] Natl Acad Sci Ukraine, Bogomolets Inst Physiol, Kiev, Ukraine.
C3 University System of Maryland; University of Maryland Baltimore;
   National Academy of Sciences Ukraine; A.A. Bogomoletz Institute of
   Physiology
RP Simard, JM (corresponding author), Univ Maryland, Baltimore, MD 21201 USA.
EM msimard@surgery1.umaryland.edu
RI Ivanova, Svetlana/JTV-7212-2023
FU National Heart, Lung and Blood Institute [HL51932]; National Institute
   for Neurological Diseases and Stroke [NS39956]; Bugher award from the
   American Heart Association
FX This work was supported by grants (to J.M.S.) from the National Heart,
   Lung and Blood Institute (HL51932), the National Institute for
   Neurological Diseases and Stroke (NS39956), and a Bugher award from the
   American Heart Association.
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NR 21
TC 0
Z9 0
U1 0
U2 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0090-2977
EI 1573-9007
J9 NEUROPHYSIOLOGY+
JI Neurophysiology
PD MAY
PY 2003
VL 35
IS 3-4
BP 181
EP 186
DI 10.1023/B:NEPH.0000008778.34093.82
PG 6
WC Neurosciences; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology; Physiology
GA VI4NT
UT WOS:000487266400007
DA 2025-04-10
ER

PT J
AU Al-Saaidi, R
   Bross, P
AF Al-Saaidi, Rasha
   Bross, Peter
TI Do lamin A and lamin C have unique roles?
SO CHROMOSOMA
LA English
DT Review
DE Lamin A and lamin C; Isoforms; Alternative splicing; Nuclear lamina;
   Laminopathies and distinct functions
ID DREIFUSS MUSCULAR-DYSTROPHY; HUTCHINSON-GILFORD PROGERIA;
   AGE-RELATED-CHANGES; A-TYPE LAMINS; INTERMEDIATE-FILAMENT PROTEINS;
   MESSENGER-RNA EXPRESSION; NUCLEAR LAMIN; DILATED CARDIOMYOPATHY; PARTIAL
   LIPODYSTROPHY; A/C EXPRESSION
AB The A-type lamins, lamin A and lamin C, generated from a single gene, LMNA, are major structural components of the nuclear lamina. The two alternative splice products have mostly been studied together because they have been considered to be interchangeable. However, several lines of evidence indicate that in spite of being generated from the same gene and having high similarities in their primary sequences, the two isoforms are not equivalent in different biological aspects in both health and disease. The key question is whether they have both overlapping and unique functions and whether they are distinctly regulated. Based on the so far available experimental evidence, lamin A appears to be the most regulated A-type isoform during development, aging, and disease which indicates that lamin A is implicated in many different biological aspects and may have a greater repertoire of specialized functions than lamin C. The aim of this review is to point out differences between the two major LMNA splice variants and the consequences of these differences on their functions. This may guide further research and be of prime importance for the understanding of the pathogenesis of LMNA mutations.
C1 [Al-Saaidi, Rasha; Bross, Peter] Aarhus Univ, Res Unit Mol Med, Aarhus, Denmark.
   [Al-Saaidi, Rasha; Bross, Peter] Aarhus Univ Hosp, DK-8000 Aarhus, Denmark.
C3 Aarhus University; Aarhus University
RP Al-Saaidi, R (corresponding author), Aarhus Univ, Res Unit Mol Med, Aarhus, Denmark.
EM RASHA.AL-SAAIDI@KI.AU.DK
RI Bross, Peter/B-7219-2013
OI Bross, Peter/0000-0001-9526-8525
FU Institute of Clinical Medicine; Aarhus University Hospital; Lundbeck
   Foundation
FX The study was supported by grants from the Institute of Clinical
   Medicine, Aarhus University Hospital, and the Lundbeck Foundation.
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NR 98
TC 21
Z9 26
U1 2
U2 24
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0009-5915
EI 1432-0886
J9 CHROMOSOMA
JI Chromosoma
PD MAR
PY 2015
VL 124
IS 1
BP 1
EP 12
DI 10.1007/s00412-014-0484-7
PG 12
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA CC4ET
UT WOS:000350304400001
PM 25283634
DA 2025-04-10
ER

PT J
AU Dedman, AM
   Majeed, Y
   Tumova, S
   Zeng, FN
   Kumar, B
   Munsch, C
   Bateson, AN
   Wittmann, J
   Jäck, HM
   Porter, KE
   Beech, DJ
AF Dedman, Alexandra M.
   Majeed, Yasser
   Tumova, Sarka
   Zeng, Fanning
   Kumar, Bhaskar
   Munsch, Christopher
   Bateson, Alan N.
   Wittmann, Juergen
   Jaeck, Hans-Martin
   Porter, Karen E.
   Beech, David J.
TI TRPC1 transcript variants, inefficient nonsense-mediated decay and low
   up-frameshift-1 in vascular smooth muscle cells
SO BMC MOLECULAR BIOLOGY
LA English
DT Article
DE alternative splicing; nonsense-mediated decay; cationic channel;
   transient receptor potential canonical 1
ID MESSENGER-RNA DECAY; INHIBITS CALCIUM INFLUX; STORE-OPERATED CHANNEL;
   FUNCTIONAL EXPRESSION; INTRACELLULAR CA2+; PLASMA-MEMBRANE; SPLICE
   VARIANT; HUMAN HOMOLOG; GENE; CLONING
AB Background: Transient Receptor Potential Canonical 1 (TRPC1) is a widely-expressed mammalian cationic channel with functional effects that include stimulation of cardiovascular remodelling. The initial aim of this study was to investigate variation in TRPC1-encoding gene transcripts.
   Results: Extensive TRPC1 transcript alternative splicing was observed, with exons 2, 3 and 5-9 frequently omitted, leading to variants containing premature termination codons. Consistent with the predicted sensitivity of such variants to nonsense-mediated decay (NMD) the variants were increased by cycloheximide. However it was notable that control of the variants by NMD was prominent in human embryonic kidney 293 cells but not human vascular smooth muscle cells. The cellular difference was attributed in part to a critical protein in NMD, up-frameshift-1 (UPF1), which was found to have low abundance in the vascular cells. Rescue of UPF1 by expression of exogenous UPF1 was found to suppress vascular smooth muscle cell proliferation.
   Conclusions: The data suggest: (i) extensive NMD-sensitive transcripts of TRPC1; (ii) inefficient clearance of aberrant transcripts and enhanced proliferation of vascular smooth muscle cells in part because of low UPF1 expression.
C1 [Dedman, Alexandra M.; Majeed, Yasser; Tumova, Sarka; Zeng, Fanning; Kumar, Bhaskar; Porter, Karen E.; Beech, David J.] Univ Leeds, Multidisciplinary Cardiovasc Res Ctr, Leeds LS2 9JT, W Yorkshire, England.
   [Dedman, Alexandra M.; Majeed, Yasser; Tumova, Sarka; Zeng, Fanning; Kumar, Bhaskar; Bateson, Alan N.; Beech, David J.] Univ Leeds, Fac Biol Sci, Inst Membrane & Syst Biol, Leeds LS2 9JT, W Yorkshire, England.
   [Munsch, Christopher] Gen Infirm, Yorkshire Heart Ctr, Leeds LS1 3EX, W Yorkshire, England.
   [Wittmann, Juergen; Jaeck, Hans-Martin] Univ Erlangen Nurnberg, Nikolaus Fiebiger Ctr Mol Med, Div Mol Immunol, D-91054 Erlangen, Germany.
   [Porter, Karen E.] Univ Leeds, Fac Med & Hlth, Leeds LS2 9JT, W Yorkshire, England.
C3 University of Leeds; University of Leeds; Leeds General Infirmary;
   University of Erlangen Nuremberg; University of Leeds
RP Beech, DJ (corresponding author), Univ Leeds, Multidisciplinary Cardiovasc Res Ctr, Mt Preston St, Leeds LS2 9JT, W Yorkshire, England.
EM d.j.beech@leeds.ac.uk
RI Majeed, Yasser/ABG-3662-2021; Tumova, Sarka/AAD-6353-2019
OI Beech, David/0000-0002-7683-9422; Tumova, Sarka/0000-0003-2044-4998;
   Wittmann, Jurgen/0000-0003-0404-8186; KUMAR,
   BHASKAR/0000-0001-5705-1384; Jack, Hans-Martin/0000-0002-6332-8463
FU Wellcome Trust; University of Leeds
FX Supported by the Wellcome Trust and a University of Leeds PhD
   Studentship to YM.
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U1 0
U2 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2199
J9 BMC MOL BIOL
JI BMC Mol. Biol.
PD JUL 12
PY 2011
VL 12
AR 30
DI 10.1186/1471-2199-12-30
PG 10
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 801XT
UT WOS:000293474600001
PM 21749700
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Královicová, J
   Sevcíková, I
   Stejskalová, E
   Obuca, M
   Hiller, M
   Stanek, D
   Vorechovsky, I
AF Kralovicova, Jana
   Sevcikova, Ivana
   Stejskalova, Eva
   Obuca, Mina
   Hiller, Michael
   Stanek, David
   Vorechovsky, Igor
TI PUF60-activated exons uncover altered 3′ splice-site selection by
   germline missense mutations in a single RRM
SO NUCLEIC ACIDS RESEARCH
LA English
DT Article
ID GENOME-WIDE ANALYSIS; U2AF HOMOLOGY MOTIF; RNA-BINDING; GLUCOSIDASE II;
   DISEASE GENES; CAPER-ALPHA; PROTEIN; REVEALS; RECOGNITION; COMPLEX
AB PUF60 is a splicing factor that binds uridine (U)-rich tracts and facilitates association of the U2 small nuclear ribonucleoprotein with primary transcripts. PUF60 deficiency (PD) causes a developmental delay coupled with intellectual disability and spinal, cardiac, ocular and renal defects, but PD pathogenesis is not understood. Using RNA-Seq, we identify human PUF60-regulated exons and show that PUF60 preferentially acts as their activator. PUF60-activated internal exons are enriched for Us upstream of their 3' splice sites (3'ss), are preceded by longer AG dinucleotide exclusion zones and more distant branch sites, with a higher probability of unpaired interactions across a typical branch site location as compared to control exons. In contrast, PUF60-repressed exons show U-depletion with lower estimates of RNA single-strandedness. We also describe PUF60-regulated, alternatively spliced isoforms encoding other U-bound splicing factors, including PUF60 partners, suggesting that they are co-regulated in the cell, and identify PUF60-regulated exons derived from transposed elements. PD-associated amino-acid substitutions, even within a single RNA recognition motif (RRM), altered selection of competing 3' ss and branch points of a PUF60-dependent exon and the 3' ss choice was also influenced by alternative splicing of PUF60. Finally, we propose that differential distribution of RNA processing steps detected in cells lacking PUF60 and the PUF60-paralog RBM39 is due to the RBM39 RS domain interactions. Together, these results provide new insights into regulation of exon usage by the 3' ss organization and reveal that germline mutation heterogeneity in RRMs can enhance phenotypic variability at the level of splicesite and branch-site selection.
C1 [Kralovicova, Jana; Vorechovsky, Igor] Univ Southampton, Fac Med, Southampton SO16 6YD, Hants, England.
   [Kralovicova, Jana; Sevcikova, Ivana] Slovak Acad Sci, Ctr Biosci, Bratislava 84005, Slovakia.
   [Stejskalova, Eva; Obuca, Mina; Stanek, David] Czech Acad Sci, Inst Mol Genet, Prague 14220, Czech Republic.
   [Hiller, Michael] Max Planck Inst Mol Cell Biol & Genet, Dresden, Germany.
   [Hiller, Michael] Max Planck Inst Phys Komplexer Syst, Dresden, Germany.
C3 University of Southampton; Slovak Academy of Sciences; Centre of
   Biosciences, SAS; Czech Academy of Sciences; Institute of Molecular
   Genetics of the Czech Academy of Sciences; Max Planck Society; Max
   Planck Society
RP Vorechovsky, I (corresponding author), Univ Southampton, Fac Med, Southampton SO16 6YD, Hants, England.
EM igvo@soton.ac.uk
RI Stejskalová, Eva/IAO-6487-2023; Kralovicova, Jana/AAA-1693-2022;
   Borovska, Ivana/HJZ-1773-2023; Stanek, David/G-9576-2013
OI Borovska, Ivana/0000-0002-8090-387X; Stanek, David/0000-0002-5865-175X;
   Vorechovsky, Igor/0000-0002-6740-6502
FU Bloodwise [12060]; VEGA [2/0057/18]; Czech Science Foundation
   [P305/12/G034]; COAF United Kingdom;  [RVO68378050]
FX Bloodwise [12060 to I.V.], VEGA [2/0057/18 to J.K.]; patent royalties
   (to J.K. and I. V.); Czech Science Foundation [P305/12/G034 to D.S.];
   internal funding [RVO68378050]. Funding for open access charge: COAF
   United Kingdom.
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NR 130
TC 38
Z9 42
U1 1
U2 16
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0305-1048
EI 1362-4962
J9 NUCLEIC ACIDS RES
JI Nucleic Acids Res.
PD JUL 6
PY 2018
VL 46
IS 12
BP 6166
EP 6187
DI 10.1093/nar/gky389
PG 22
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA GM7TI
UT WOS:000438397200029
PM 29788428
OA Green Published, Green Submitted, gold, Green Accepted
DA 2025-04-10
ER

PT J
AU Suriyapperuma, SP
   Lozovatsky, L
   Ciciotte, SL
   Peters, LL
   Gilligan, DM
AF Suriyapperuma, SP
   Lozovatsky, L
   Ciciotte, SL
   Peters, LL
   Gilligan, DM
TI The mouse adducin gene family: alternative splicing and chromosomal
   localization
SO MAMMALIAN GENOME
LA English
DT Article
ID PROTEIN-KINASE-C; HUMAN BETA-ADDUCIN; HUMAN ALPHA-ADDUCIN; ERYTHROCYTE
   ADDUCIN; ESSENTIAL-HYPERTENSION; DROSOPHILA OOGENESIS; GENOMIC
   ORGANIZATION; ACTIN-FILAMENTS; CALMODULIN; BINDING
AB Mouse cDNA sequences encoding alpha, beta, and gamma adducins were cloned from a mouse reticulocyte cDNA library. The purified clones contain alternatively spliced exons from all three adducin genes. In the case of alpha and beta, the inclusion of che alternatively spliced exons results in truncated polypeptide isoforms (called alpha-2 and beta-2). The mouse predicted amino acid sequences are compared with published rat and human sequences. For completion of this comparison. cDNA encoding the rat beta-1 carboxy terminus was cloned by PCR. The carboxy terminal region containing MARCKS homology, calmodulin-binding region-2, and spectrin-actin-binding site, is conserved among alpha-1, beta-1, and gamma-1 isoforms in mouse, rat, and humans. We also report here the localization of the gene encoding gamma adducin (Add3) to murine Chr 19, in a region that shows conserved synteny with human Chr 10.
C1 Yale Univ, Sch Med, New Haven, CT 06510 USA.
   Jackson Lab, Bar Harbor, ME 04609 USA.
C3 Yale University; Jackson Laboratory
RP Gilligan, DM (corresponding author), Yale Univ, Sch Med, 333 Cedar St,WWW 403, New Haven, CT 06510 USA.
OI Peters, Luanne/0000-0002-0784-0534
FU NHLBI NIH HHS [R01 HL064885] Funding Source: Medline
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PU SPRINGER VERLAG
PI NEW YORK
PA 175 FIFTH AVE, NEW YORK, NY 10010 USA
SN 0938-8990
J9 MAMM GENOME
JI Mamm. Genome
PD JAN
PY 2000
VL 11
IS 1
BP 16
EP 23
DI 10.1007/s003350010004
PG 8
WC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
   Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
   Genetics & Heredity
GA 267EU
UT WOS:000084344800004
PM 10602987
DA 2025-04-10
ER

PT J
AU Cheng, B
   Xu, A
   Qiao, MR
   Wu, Q
   Wang, WY
   Mei, YD
   Wu, MA
AF Cheng, Bing
   Xu, An
   Qiao, Mengran
   Wu, Qiao
   Wang, Wenyu
   Mei, Yide
   Wu, Mian
TI BECN1s, a short splice variant of BECN1, functions in mitophagy
SO AUTOPHAGY
LA English
DT Article
DE BECN1; BECN1s; mitochondrial depolarization; mitophagy; starvation
ID RETICULOCYTE MATURATION; MITOCHONDRIAL AUTOPHAGY; MAMMALIAN-CELLS;
   ERYTHROID-CELLS; PROTEIN; NIX; DEGRADATION; CLEARANCE; INDUCTION;
   BECLIN-1
AB Mitochondria selective autophagy, known as mitophagy, plays a pivotal role in several biological processes, such as elimination of the damaged mitochondria, removal of the mitochondria from immature red blood cells and sperm. The defects in mitophagy are associated with a wide spectrum of human diseases, including neurodegenerative disease, aging, cardiac disease and autoimmune disease. However, the mechanism underlying mitophagy remains largely unclear. Here, we report the characterization of a novel splice variant of BECN1/Beclin 1, BECN1s, which is produced by an alternative splicing mechanism. BECN1s is primarily associated with the outer-membrane of mitochondria. Unlike unspliced BECN1, which is essential for nonselective macroautophagy induction, BECN1s is indispensible for mitochondria-selective autophagy. Furthermore, BECN1s plays an important role in starvation- and membrane depolarization-induced mitophagy. Taken together, our findings broaden the view of BECN1 as an important regulator in autophagy, and implicate BECN1s as a specific mitophagy mediator.
C1 [Cheng, Bing; Xu, An; Qiao, Mengran; Wang, Wenyu; Mei, Yide; Wu, Mian] Univ Sci & Technol China, Sch Life Sci, Innovat Ctr Cell Signaling Network, CAS Key Lab Innate Immun & Chron Dis, Hefei 230026, Anhui, Peoples R China.
   [Wu, Qiao] Xiamen Univ, Sch Life Sci, State Key Lab Cellular Stress Biol, Xiamen, Fujian Province, Peoples R China.
C3 Chinese Academy of Sciences; University of Science & Technology of
   China, CAS; Xiamen University
RP Wang, WY (corresponding author), Univ Sci & Technol China, Sch Life Sci, Innovat Ctr Cell Signaling Network, CAS Key Lab Innate Immun & Chron Dis, Hefei 230026, Anhui, Peoples R China.
EM wenyuw@mail.ustc.edu.cn; meiyide@ustc.edu.cn; wumian@ustc.edu.cn
RI Wu, Mian/H-2494-2018; Mei, Yide/M-4468-2013
OI XU, AN/0000-0003-1776-7972; Wu, Mian/0000-0002-2714-0500; WANG,
   Wenyu/0000-0001-8947-4867
FU National Natural Science Foundation of China [81430065, 31371388,
   31371428, 31422035]; Ministry of Science and Technology of China
   [2014CB910601, 2015CB553800]; Natural Science Foundation of Anhui
   province [1408085J07]; Special Research Fund for the Doctoral Program of
   Higher Education from Ministry of Education of China [20123402130006]
FX This work was supported by grants from National Natural Science
   Foundation of China (81430065, 31371388, 31371428 and 31422035); the
   Ministry of Science and Technology of China (2014CB910601 and
   2015CB553800); the Natural Science Foundation of Anhui province
   (1408085J07); and a Special Research Fund for the Doctoral Program of
   Higher Education from Ministry of Education of China (20123402130006).
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NR 40
TC 26
Z9 27
U1 1
U2 16
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1554-8627
EI 1554-8635
J9 AUTOPHAGY
JI Autophagy
PD NOV
PY 2015
VL 11
IS 11
BP 2048
EP 2056
DI 10.1080/15548627.2015.1100785
PG 9
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA CY6GH
UT WOS:000366506200008
PM 26649941
OA Green Submitted, Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Luo, PN
   Wang, ZY
   Su, CC
   Li, HH
   Zhang, HY
   Huang, YQ
   Chen, W
AF Luo, Pengna
   Wang, Ziyang
   Su, Chuanchen
   Li, Huihong
   Zhang, Huaiyong
   Huang, Yanqun
   Chen, Wen
TI Chicken GLUT4 undergoes complex alternative splicing events and
   its expression in striated muscle changes dramatically during
   development
SO POULTRY SCIENCE
LA English
DT Article
DE GLUT4; gene cloning; bioinformatics analysis; expression
ID RESPONSIVE GLUCOSE-TRANSPORTER; SKELETAL-MUSCLE; DIFFERENTIAL
   EXPRESSION; GLUT4 EXPRESSION; MESSENGER-RNA; MICE; IDENTIFICATION;
   MECHANISMS; REGULATOR; EXERCISE
AB Glucose transporter protein 4 (GLUT4) plays an important role in regulating insu- lin-mediated glucose homeostasis in mammals. Until now, studies on GLUT4 have focused on mammals mostly, while chicken GLUT4 has been rarely investi- gated. In this study, chicken GLUT4 mRNA sequences were obtained by combining conventional amplifica- tion, 5'-and 3'-rapid amplification of cDNA ends tech- nique (RACE), then bioinformatics analysis on its genomic structure, splicing pattern, subcellular locali- zation prediction and homologous comparisons were carried out. In addition, the distribution of GLUT4 was detected by RT-qPCR in bird's liver and striated muscles (cardiac muscle, pectoralis and leg muscle) at different ages, including embryonic day 14 (E14), E19, 7-day-old (D7), D21 and D49 (n=3-4). Results showed that chicken GLUT4 gene produced at least 14 transcripts (GenBank accession No: OP491293- OP491306) through alternative splicing and polyadeny- lation, which predicted encoding 12 types of amino acid (AA) sequences (with length ranged from 65 AA to 519 AA). These proteins contain typical major facilitator superfamily domain of glucose transporters with length variations, sharing a common sequence of 59 AA, and were predicted to have distinct subcellular localization. The dominant transcript (named as T1) consists of 11 exons with an open reading frame being predicted encoding 519 AA. In addition, analyzing on the spatio- temporal expression of chicken GLUT4 showed it domi- nantly expressed in pectoralis, leg muscles and cardiac muscle, and the mRNA level of chicken GLUT4 dra- matically fluctuated with birds' development in cardiac muscle, pectoralis and leg muscles, with the level at D21 significantly higher than that at E14, E19, and D49 (P < 0.05). These data indicated that chicken GLUT4 undergoes complex alternative splicing events, and GLUT4 expression level in striated muscle was sub- jected to dynamic regulation with birds' development. Results indicate these isoforms may play overlapping and distinct roles in chicken.
C1 [Luo, Pengna; Wang, Ziyang; Su, Chuanchen; Li, Huihong; Zhang, Huaiyong; Huang, Yanqun; Chen, Wen] Henan Agr Univ, Coll Anim Sci, Zhengzhou 450000, Peoples R China.
C3 Henan Agricultural University
RP Huang, YQ (corresponding author), Henan Agr Univ, Coll Anim Sci, Zhengzhou 450000, Peoples R China.
EM hyanqun@aliyun.com
RI Huang, Yanqun/JVD-8692-2023; zhang, Huaiyong/AAM-3985-2020
OI Huihong, Li/0000-0002-4490-1519; Luo, Pengna/0000-0001-9659-0620;
   Chuanchen, Su/0000-0001-9216-6777; zhang, Huaiyong/0000-0002-1490-8541;
   Huang, Yanqun/0000-0002-4427-2767
FU National Natural Science Foundation of China [32072748]
FX Acknowledgments This study was financially supported by the National
   Natural Science Foundation of China (32072748) .
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NR 60
TC 6
Z9 6
U1 0
U2 5
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 0032-5791
EI 1525-3171
J9 POULTRY SCI
JI Poult. Sci.
PD MAR
PY 2023
VL 102
IS 3
AR 102403
DI 10.1016/j.psj.2022.102403
EA DEC 2022
PG 11
WC Agriculture, Dairy & Animal Science
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Agriculture
GA 7Y6XU
UT WOS:000915020300001
PM 36584419
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Grosse, R
   Schoneberg, T
   Schultz, G
   Gudermann, T
AF Grosse, R
   Schoneberg, T
   Schultz, G
   Gudermann, T
TI Inhibition of gonadotropin-releasing hormone receptor signaling by
   expression of a splice variant of the human receptor
SO MOLECULAR ENDOCRINOLOGY
LA English
DT Article
ID PROTEIN-COUPLED RECEPTORS; MOLECULAR-CLONING; GNRH RECEPTOR; CYTOPLASMIC
   DOMAINS; BINDING; PITUITARY; RHODOPSIN; LIGAND; CELLS; GENE
AB GnRH binds to a specific G protein-coupled receptor in the pituitary to regulate synthesis and secretion of gonadotropins. Using RT-PCR and human pituitary poly(A)(+) RNA as a template, the full-length GnRH receptor (wild type) and a second truncated cDNA characterized by a 128-bp deletion between nucleotide positions 522 and 651 were cloned. The deletion causes a frame shift in the open reading frame, thus generating new coding sequence for further 75 amino acids. The truncated cDNA arises from alternative splicing by accepting a cryptic splicing acceptor site in exon 2. Distinct translation products of approximately 45-50 and 42 kDa were immunoprecipitated from COS-7 cells transfected with cDNA coding for wild type GnRH receptor and the truncated splice variant, respectively. Immuno-cytochemical and enzyme-linked immunosorbent assay studies revealed a membranous expression pattern for both receptor isoforms. Expression of the splice variant, however, occurred at a significantly lower cell surface receptor density. In terms of ligand binding and phospholipase C activation, the wild type receptor showed characteristics of a typical GnRH receptor, whereas the splice variant was incapable of ligand binding and signal transduction. Coexpression of wild type and truncated proteins in transiently or stably transfected cells, however, resulted in impaired signaling via the wild type receptor by reducing maximal agonist-induced inositol phosphate accumulation. The inhibitory effect depended on the amount of splice variant cDNA cotransfected and was specific for the GnRH receptor because signaling via other G(q/11)-coupled receptors, such as the thromboxane A(2), M-5 muscarinic, and V-1 vasopressin receptors, was not affected. Immunological studies revealed that coexpression of the wild type receptor and the truncated splice Variant resulted in impaired insertion of the wild type receptor into the plasma membrane. Thus, expression of truncated receptor proteins may highlight a novel principle of specific functional inhibition of G protein-coupled receptors.
C1 FREE UNIV BERLIN, INST PHARMAKOL, D-14195 BERLIN, GERMANY.
C3 Free University of Berlin
OI Grosse, Robert/0000-0002-3380-5273
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NR 57
TC 147
Z9 158
U1 0
U2 4
PU ENDOCRINE SOC
PI WASHINGTON
PA 2055 L ST NW, SUITE 600, WASHINGTON, DC 20036 USA
SN 0888-8809
J9 MOL ENDOCRINOL
JI Mol. Endocrinol.
PD AUG
PY 1997
VL 11
IS 9
BP 1305
EP 1318
DI 10.1210/me.11.9.1305
PG 14
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA XN623
UT WOS:A1997XN62300011
PM 9259321
OA Bronze
DA 2025-04-10
ER

PT J
AU Lee-Kirsch, MA
   Gaudet, F
   Cardoso, MC
   Lindpaintner, K
AF Lee-Kirsch, MA
   Gaudet, F
   Cardoso, MC
   Lindpaintner, K
TI Distinct renin isoforms generated by tissue-specific transcription
   initiation and alternative splicing
SO CIRCULATION RESEARCH
LA English
DT Article
DE renin; renin-angiotensin system; alternative splicing; gene expression;
   brain
ID II TYPE-2 RECEPTOR; SPONTANEOUSLY HYPERTENSIVE RAT;
   ANGIOTENSIN-CONVERTING ENZYME; BLOOD-PRESSURE; GENE-EXPRESSION;
   NUCLEOTIDE-SEQUENCE; MESSENGER-RNAS; DAHL RATS; BRAIN; CELLS
AB The aspartyl protease renin catalyzes the initial and rate-limiting step in the formation of the biologically active peptide angiotensin II. It is mainly synthesized in the kidney as a preprohormone and secreted via constitutive and regulated pathways. We identified a novel transcript of the rat renin gene, renin b, characterized by the presence of an alternative first exon (exon 1b) that is spliced to exon 2 of the known transcript, termed renin a. We demonstrated that renin b is exclusively expressed in the brain. In contrast, renin a was not expressed in the brain. Using primer extension assays, we mapped the transcriptional start site of this novel mRNA within intron 1 of the rat genomic sequence, suggesting the presence of a brain-specific promoter within intron 1. The presence of a brain-specific renin isoform is evolutionally conserved, as demonstrated by the finding of renin b isoforms in mice and humans. The predicted protein renin b lacks the prefragment as well as a significant portion of the profragment and is therefore predicted not to be a secreted protein, unlike the classically described isoform renin a. As shown by in vitro translation of full-length renin b mRNA in the presence of microsomal membranes, renin b was not targeted into the endoplasmatic reticulum and remained intracellularly in transiently transfected AtT-20 cells. These findings provide evidence for a novel pathway of intracellular angiotensin generation that occurs exclusively in the brain.
C1 Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Med,Cardiovasc Div, Boston, MA 02115 USA.
   Tech Univ Dresden, Kinderklin, D-8027 Dresden, Germany.
   Max Delbruck Ctr Mol Med, Berlin, Germany.
C3 Harvard University; Harvard Medical School; Harvard University Medical
   Affiliates; Brigham & Women's Hospital; Technische Universitat Dresden;
   Helmholtz Association; Max Delbruck Center for Molecular Medicine
RP Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Med,Cardiovasc Div, 75 Francis St, Boston, MA 02115 USA.
EM kl@calvin.bwh.harvard.edu
RI Lee-Kirsch, Min/C-5769-2018; Cardoso, M./F-5215-2011
FU NHLBI NIH HHS [K04-HL03138-01] Funding Source: Medline
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NR 36
TC 110
Z9 114
U1 0
U2 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD FEB 5
PY 1999
VL 84
IS 2
BP 240
EP 246
DI 10.1161/01.RES.84.2.240
PG 7
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 166ZA
UT WOS:000078607000014
PM 9933256
OA Bronze
DA 2025-04-10
ER

PT J
AU Deo, RC
AF Deo, Rahul C.
TI Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All
   Three: Explaining the Distribution of Truncation Variants in
   Titin
SO CIRCULATION-CARDIOVASCULAR GENETICS
LA English
DT Article
DE alternative splicing; confusion; dilated cardiomyopathy; human; mutation
ID MUSCLE FILAMENT TITIN; DILATED CARDIOMYOPATHY; M-LINE; RNA-SEQ;
   MUTATIONS; SARCOMERE; GENETICS; ASSOCIATION; PERIPARTUM; RELEVANCE
AB Background Truncating mutations in the giant sarcomeric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy. Detailed studies have amassed a wealth of information about truncating variant position in cases and controls. Nonetheless, considerable confusion exists as to how to interpret the pathogenicity of these variants, hindering our ability to make useful recommendations to patients.
   Methods and Results Building on our recent discovery of a conserved internal promoter within the Titin gene, we sought to develop an integrative statistical model to explain the observed pattern of Titin truncation variants in patients with dilated cardiomyopathy and population controls. We amassed Titin truncation mutation information from 1714 human dilated cardiomyopathy cases and >69000 controls and found 3 factors explaining the distribution of Titin mutations: (1) alternative splicing, (2) whether the internal promoter Cronos isoform was disrupted, and (3) whether the distal C terminus was targeted (in keeping with the observation that truncation variants in this region escape nonsense-mediated decay and continue to be incorporated in the sarcomere). A model using these 3 factors had strong predictive performance with an area under the receiver operating characteristic curve of 0.81. Accordingly, individuals with either the most severe form of dilated cardiomyopathy or whose mutations demonstrated clear family segregation experienced the highest risk profile across all 3 components.
   Conclusions We conclude that quantitative models derived from large-scale human genetic and phenotypic data can be applied to help overcome the ever-growing challenges of genetic data interpretation. Results of our approach can be found at http://cvri.ucsf.edu/similar to deo/TTNtruncationvariant.html.
C1 Univ Calif San Francisco, Dept Med, Inst Human Genet, Calif Inst Quantitat Biosci, San Francisco, CA USA.
   Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA USA.
C3 University of California System; University of California San Francisco;
   University of California System; University of California San Francisco
RP Deo, RC (corresponding author), UCSF Sch Med, Cardiovasc Res Inst, 555 Mission Bay Blvd S, San Francisco, CA 94158 USA.
EM rahul.deo@ucsf.edu
FU National Institutes of Health/National Heart, Lung, and Blood Institute
   [DP2 HL123228]
FX This work is funded by National Institutes of Health/National Heart,
   Lung, and Blood Institute grants DP2 HL123228.
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NR 30
TC 27
Z9 28
U1 0
U2 10
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 1942-325X
EI 1942-3268
J9 CIRC-CARDIOVASC GENE
JI Circ.-Cardiovasc. Genet.
PD OCT
PY 2016
VL 9
IS 5
BP 419
EP 425
DI 10.1161/CIRCGENETICS.116.001513
PG 7
WC Cardiac & Cardiovascular Systems; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Genetics & Heredity
GA EA4OY
UT WOS:000386593700005
PM 27625338
OA Green Published, gold, Green Submitted
DA 2025-04-10
ER

PT J
AU Li, DD
   Zhong, CH
   Sun, Y
   Kang, L
   Jiang, YL
AF Li, Dandan
   Zhong, Conghao
   Sun, Yi
   Kang, Li
   Jiang, Yunliang
TI Identification of genes involved in chicken follicle selection by ONT
   sequencing on granulosa cells
SO FRONTIERS IN GENETICS
LA English
DT Article
DE chicken; follicle selection; Dhcr7; granulosa cells; alternative
   splicing
ID MORPHOGENETIC PROTEIN 4; ESTROGEN-RECEPTOR; OVARIAN-FOLLICLE;
   CHOLESTEROL; EXPRESSION; RESISTANCE; HORMONE; STRESS; CANCER; FSH
AB In chickens, follicle selection is an important process affecting laying traits, which is characterized by the differentiation of granulosa cells and the synthesis of progesterone by granulosa cells from hierarchical follicles. By using Oxford Nanopore Technologies (ONT) approach, we compared the transcriptomes of granulosa cells between pre-hierarchical (Pre-GCs) and hierarchical follicles (Post-GCs) to identify genes underlying chicken follicle selection. A total of 2,436 differentially expressed genes (DEGs), 3,852 differentially expressed transcripts (DETs) and 925 differentially expressed lncRNA transcripts were identified between chicken Pre-GCs and Post-GCs. For all of the significant DETs, the alternative 3 & PRIME;splice sites (A3) accounted for a maximum of 23.74% of all alternative splicing events. Three DETs of the 7-dehydrocholesterol reductase gene (DHCR7) named as T1, T3, and T4, differing in 5 ' untranslated regions (UTRs), increased in Post-GCs with different folds (T1: 1.83, T3: 2.42, T4: 5.06). The expression of the three DHCR7 transcripts was upregulated by estrogen in a dose-dependent manner, while was downregulated by bone morphogenetic protein 15 (BMP15) and transforming growth factor-beta 1 (TGF-beta 1). Follicle-stimulating hormone (FSH) and bone morphogenetic protein 4 (BMP4) promoted the expression of the three DHCR7 transcripts in Pre-GCs at lower concentrations, while repressed their expression at higher concentrations. The data from this study may provide a reference for better understanding of the genetic mechanisms underlying follicle selection in chicken and other poultry species.
C1 [Li, Dandan; Sun, Yi; Kang, Li; Jiang, Yunliang] Shandong Agr Univ, Coll Anim Sci & Vet Med, Shandong Prov Key Lab Anim Biotechnol & Dis Contro, Tai An, Peoples R China.
   [Zhong, Conghao] China Agr Univ, Coll Anim Sci & Technol, Beijing, Peoples R China.
C3 Shandong Agricultural University; China Agricultural University
RP Jiang, YL (corresponding author), Shandong Agr Univ, Coll Anim Sci & Vet Med, Shandong Prov Key Lab Anim Biotechnol & Dis Contro, Tai An, Peoples R China.
EM zhaojy@sdau.edu.cn
FU National Key R&D program of China [2021YFD1300100]; National Natural
   Science Foundation of China [NSFC 32272869]; Agricultural Breed Project
   of Shandong Province [2019LZGC019]; Funds of Shandong "Double Tops"
   Program [SYL2017YSTD12]
FX This work was funded by the National Key R&D program of China (Grant No.
   2021YFD1300100), the National Natural Science Foundation of China (NSFC
   32272869), the Agricultural Breed Project of Shandong Province (Grant
   No. 2019LZGC019) and the Funds of Shandong "Double Tops" Program
   (SYL2017YSTD12).
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NR 47
TC 14
Z9 15
U1 5
U2 15
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
EI 1664-8021
J9 FRONT GENET
JI Front. Genet.
PD JAN 12
PY 2023
VL 13
AR 1090603
DI 10.3389/fgene.2022.1090603
PG 13
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 8K0EC
UT WOS:000922782400001
PM 36712880
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Duchateau, PN
   Pullinger, CR
   Cho, MH
   Eng, C
   Kane, JP
AF Duchateau, PN
   Pullinger, CR
   Cho, MH
   Eng, C
   Kane, JP
TI Apolipoprotein L gene family: tissue-specific expression, splicing,
   promoter regions; discovery of a new gene
SO JOURNAL OF LIPID RESEARCH
LA English
DT Article
DE HDL; alternative splicing; lipoprotein; chromosome 22
ID ESTER TRANSFER PROTEIN; A-I; DENSITY-LIPOPROTEIN; AFFINITY
   IMMUNOSORPTION; MESSENGER-RNA; PLASMA; IDENTIFICATION; INHIBITION;
   SEQUENCE
AB Previously we identified and cloned the cDNA for a new protein apolipoprotein L (apoL), present in plasma and mainly associated with large high density lipoprotein particles. Using 5' rapid amplification of cDNA ends, RT-PCR and comparison with three Human Genome Project and three expressed sequence tag sequences, we have characterized the gene for apoL and for three additional, highly homologous proteins that constitute a new family of proteins that display no homology with previously described apolipoproteins. The genes for all four proteins, apoL-I, apoL-II, apoL-III, and apoL-IV, are located at chromosome 22q12.1-13.1 within a 127,000-bp region. The apoL-I gene is in the opposite orientation to the other three. All four genes have TATA-less promoters, which contain putative sterol regulatory elements, suggesting that transcription of these genes may be coordinated with that of the low density lipoprotein receptor and genes in pathways involving the synthesis of triglycerides and cholesterol. The gene family has a consensus eight-exon structure with alternative splice sites that could produce as many as eight distinct gene products. The apoL-II and apoL-III genes have alternative transcriptional start sites as a result of additional 5' exons. apoL-I, apoL-II, and apoL-III are expressed to the highest degree in the lung. Other tissues with high expression are the pancreas, prostate, spleen, liver, and placenta. Four clustered common polymorphisms, three of which altered the protein sequence, were found in apoL-I, all in linkage disequilibrium, and describing two haplotypes: the more common Lys(166)/Ile(244)/Lys(271) and the rarer Glu(166)/Met(244)/Arg(271).
C1 Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA.
   Univ Calif San Francisco, Dept Med, San Francisco, CA 94143 USA.
   Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.
C3 University of California System; University of California San Francisco;
   University of California System; University of California San Francisco;
   University of California System; University of California San Francisco
RP Duchateau, PN (corresponding author), Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA.
RI Pearson, John/AAT-4211-2020
OI Cho, Min/0000-0003-4696-0173
FU NHLBI NIH HHS [HL 31210] Funding Source: Medline
CR Bruce C, 1998, ANNU REV NUTR, V18, P297, DOI 10.1146/annurev.nutr.18.1.297
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NR 22
TC 118
Z9 145
U1 0
U2 5
PU LIPID RESEARCH INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0022-2275
J9 J LIPID RES
JI J. Lipid Res.
PD APR
PY 2001
VL 42
IS 4
BP 620
EP 630
PG 11
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 421UX
UT WOS:000168082900017
PM 11290834
DA 2025-04-10
ER

PT J
AU Dyck, C
   Omelchenko, A
   Elias, CL
   Quednau, BD
   Philipson, KD
   Hnatowich, M
   Hryshko, LV
AF Dyck, C
   Omelchenko, A
   Elias, CL
   Quednau, BD
   Philipson, KD
   Hnatowich, M
   Hryshko, LV
TI Ionic regulatory properties of brain and kidney splice variants of the
   NCX1 Na<SUP>+</SUP>-Ca<SUP>2+</SUP> exchanger
SO JOURNAL OF GENERAL PHYSIOLOGY
LA English
DT Article
DE sodium-calcium exchange; regulation; alternative splicing
ID SODIUM-CALCIUM EXCHANGE; PIG VENTRICULAR MYOCYTES; NA+/CA2+ EXCHANGER;
   DYNAMIC PROPERTIES; STEADY-STATE; GUINEA-PIG; DROSOPHILA-MELANOGASTER;
   FUNCTIONAL DIFFERENCES; CA2+-BINDING DOMAIN; RABBIT KIDNEY
AB Ion transport and regulation of Na+-Ca2+ exchange were examined for two alternatively spliced isoforms of the canine cardiac Na+-Ca2+ exchanger, NCX1.1, to assess the role(s) of the mutually exclusive A and B exons. The exchangers examined, NCX1.3 and NCX1.4, are commonly referred to as the kidney and brain splice variants and differ only in the expression of the ED or AD exons, respectively. Outward Na+-Ca2+ exchange activity was assessed in giant, excised membrane patches from Xenopus laevis oocytes expressing the cloned exchangers, and the characteristics of Na-i(+)- (i.e., I-1) and Ca-i(2+)- (i.e., I-2) dependent regulation of exchange currents were examined using a variety of experimental protocols. No remarkable differences were observed in the current-voltage relationships of NCX1.3 and NCX1.4, whereas these isoforms differed appreciably in terms of their I-1 and I-2 regulatory properties. Sodium-dependent inactivation of NCX1.3 was considerably more pronounced than that of NCX1.4 and resulted in nearly complete inhibition of steady state currents. This novel feature could be abolished by proteolysis with or-chymotrypsin. It appears that expression of the B exon in NCX1.3 imparts a substantially more stable I-1 inactive state of the exchanger than does the A exon of NCX1.4. With respect to I-2 regulation, significant differences were also found between NCX1.3 and NCX1.4. While both exchangers were stimulated by low concentrations of regulatory Ca-i(2+), NCX1.3 showed a prominent decrease at higher concentrations (> 1 mu M). This does not appear to be due solely to competition between Ca-i(2+) and Na-i(+) at the transport site, as the Ca-i(2+) affinities of inward currents were nearly identical between the two exchangers. Furthermore, regulatory Ca-i(2+) had only modest effects on Na-i(+)-dependent inactivation of NCX1.3, whereas I-1 inactivation of NCX1.4 could be completely eliminated by Ca-i(2+). Our results establish an important role for the mutually exclusive A and B exons of NCX1 in modulating the characteristics of ionic regulation and provide insight into how alternative splicing tailors the regulatory properties of Na+-Ca2+ exchange to fulfill tissue-specific requirements of Ca2+ homeostasis.
C1 St Boniface Gen Hosp, Res Ctr, Inst Cardiovasc Sci, Winnipeg, MB R2H 2A6, Canada.
   Univ Calif Los Angeles, Sch Med, Cardiovasc Res Labs, Los Angeles, CA 90095 USA.
C3 University of Manitoba; Children's Hospital Research Institute of
   Manitoba; University of California System; University of California Los
   Angeles; University of California Los Angeles Medical Center; David
   Geffen School of Medicine at UCLA
RP Hryshko, LV (corresponding author), St Boniface Gen Hosp, Res Ctr, Inst Cardiovasc Sci, 351 Tache Ave, Winnipeg, MB R2H 2A6, Canada.
OI Hryshko, Larry/0000-0003-1079-8549
FU NHLBI NIH HHS [R01 HL048509, HL-48509, HL-49101, R01 HL049101, R37
   HL048509] Funding Source: Medline
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NR 33
TC 86
Z9 91
U1 1
U2 2
PU ROCKEFELLER UNIV PRESS
PI NEW YORK
PA 1114 FIRST AVE, 4TH FL, NEW YORK, NY 10021 USA
SN 0022-1295
J9 J GEN PHYSIOL
JI J. Gen. Physiol.
PD NOV
PY 1999
VL 114
IS 5
BP 701
EP 711
DI 10.1085/jgp.114.5.701
PG 11
WC Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology
GA 252ZE
UT WOS:000083531500006
PM 10539974
OA Green Published, Green Submitted, Bronze
DA 2025-04-10
ER

PT J
AU Wang, JJ
   Thio, SSC
   Yang, SSH
   Yu, DJ
   Yu, CY
   Wong, YP
   Liao, P
   Li, SN
   Soong, TW
AF Wang, Juejin
   Thio, Sharon S. C.
   Yang, Sophia S. H.
   Yu, Dejie
   Yu, Chye Yun
   Wong, Yuk Peng
   Liao, Ping
   Li, Shengnan
   Soong, Tuck Wah
TI Splice Variant Specific Modulation of CaV1.2 Calcium Channel
   by Galectin-1 Regulates Arterial Constriction
SO CIRCULATION RESEARCH
LA English
DT Article
DE Ca(V)1.2; galectin-1; vascular smooth muscle cell; arterial constriction
ID SMOOTH-MUSCLE-CELLS; CA2+ CHANNELS; BETA-SUBUNITS; RESISTANCE ARTERIES;
   UP-REGULATION; WISTAR-KYOTO; RAT; BINDING; CALMODULIN; MIGRATION
AB Rationale: Ca(V)1.2 channels are essential for excitation-contraction coupling in the cardiovascular system, and alternative splicing optimizes its role. Galectin-1 (Gal-1) has been reported to regulate vascular smooth muscle cell (VSMC) function and play a role in pulmonary hypertension. We have identified Gal-1 multiple times in yeast 2-hybrid assays using the Ca(V)1.2 I-II loop as bait.
   Objective: Our hypothesis is that Gal-1 interacts directly with Ca(V)1.2 channel at the I-II loop to affect arterial constriction.
   Methods and Results: Unexpectedly, Gal-1 was found to selectively bind to the I-II loop only in the absence of alternatively spliced exon 9*. We found that the current densities of Ca(V)1.2(Delta 9*) channels were significantly inhibited as a result of decreased functional surface expression due to the binding of Gal-1 at the export signal located on the C-terminus of exon 9. Moreover, the suppression of Gal-1 expression by siRNA in rat A7r5 and isolated VSMCs produced the opposite effect of increased I-Ca,I-L. The physiological significance of Gal-1 mediated splice variant-specific inhibition of Ca(V)1.2 channels was demonstrated in organ bath culture where rat MAs were reversibly permeabilized with Gal-1 siRNA and the arterial wall exhibited increased K+-induced constriction.
   Conclusion: The above data indicated that Gal-1 regulates I-Ca,I-L via decreasing the functional surface expression of Ca(V)1.2 channels in a splice variant selective manner and such a mechanism may play a role in modulating vascular constriction. (Circ Res. 2011; 109: 1250-1258.)
C1 [Wang, Juejin; Yu, Dejie; Wong, Yuk Peng; Soong, Tuck Wah] Natl Univ Singapore, Dept Physiol, Yong Loo Lin Sch Med, Singapore 117456, Singapore.
   [Wang, Juejin; Thio, Sharon S. C.; Yang, Sophia S. H.; Yu, Chye Yun; Liao, Ping; Soong, Tuck Wah] Natl Inst Neurosci, Singapore, Singapore.
   [Wang, Juejin; Li, Shengnan] Nanjing Med Univ, Dept Pharmacol, Nanjing, Peoples R China.
C3 National University of Singapore; National Neuroscience Institute (NNI);
   Nanjing Medical University
RP Soong, TW (corresponding author), Natl Univ Singapore, Dept Physiol, Yong Loo Lin Sch Med, MD9,2 Med Dr, Singapore 117456, Singapore.
EM phsstw@nus.edu.sg
RI Liao, Ping/LBI-1504-2024; Wang, Jun/A-7261-2013; Yu,
   Dejie/AAT-3293-2021; Li, shengnan/MBG-2710-2025
OI Liao, Ping/0000-0002-6205-4042; , Juejin/0000-0003-4921-5451
FU Singapore National Medical Research Council [NMRC/1128/2007]
FX This work was supported by grant to T. W. S from Singapore National
   Medical Research Council (NMRC/1128/2007).
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NR 50
TC 37
Z9 40
U1 7
U2 13
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD NOV 11
PY 2011
VL 109
IS 11
BP 1250
EP U135
DI 10.1161/CIRCRESAHA.111.248849
PG 24
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 846BM
UT WOS:000296872200012
PM 21998324
OA Bronze
DA 2025-04-10
ER

PT J
AU Encarnaçao, M
   Ribeiro, I
   David, H
   Coutinho, MF
   Quelhas, D
   Alves, S
AF Encarnacao, Marisa
   Ribeiro, Isaura
   David, Hugo
   Coutinho, Maria Francisca
   Quelhas, Dulce
   Alves, Sandra
TI Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky
   Variants and Alternative Transcripts
SO GENES
LA English
DT Review
DE Niemann-Pick type C; splicing variants; leaky variants; NPC1 gene;
   molecular diagnosis
ID DISEASE TYPE-C; MESSENGER-RNA; RAPID DIAGNOSIS; NPC1 MUTATIONS; MS/MS
   METHOD; CHOLESTEROL; IDENTIFICATION; GENE; RECOMMENDATIONS; TRAFFICKING
AB Niemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathognomonic metabolites. However, the molecular basis diagnosis is still of utmost importance to fully characterize the disorder. Here, the authors provide an overview of splicing variants in the NPC1 and NPC2 genes and propose a new workflow for NPC diagnosis. Splicing variants cover a significant part of the disease-causing variants in NPC. The authors used cDNA analysis to study the impact of such variants, including the collection of data to classify them as leaky or non-leaky pathogenic variants. However, the presence of naturally occurring spliced transcripts can misdiagnose or mask a pathogenic variant and make the analysis even more difficult. Analysis of the NPC1 cDNA in NPC patients in parallel with controls is vital to assess and detect alternatively spliced forms. Moreover, nonsense-mediated mRNA decay (NMD) analysis plays an essential role in evaluating the naturally occurring transcripts during cDNA analysis and distinguishing them from other pathogenic variants' associated transcripts.
C1 [Encarnacao, Marisa; David, Hugo; Coutinho, Maria Francisca; Alves, Sandra] ISA IP, Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Res & Dev Unit, Rua Alexandre Herculano 321, P-4000055 Porto, Portugal.
   [Encarnacao, Marisa; David, Hugo; Coutinho, Maria Francisca; Alves, Sandra] Univ Porto, Ctr Study Anim Sci, Inst Ciencias Tecnol & Agroambiente, CECA ICETA, Praca Gomes Teixeira,Apartado 55142, P-4051401 Porto, Portugal.
   [Encarnacao, Marisa; David, Hugo; Coutinho, Maria Francisca; Alves, Sandra] Ave Univ Tecn, Associate Lab Anim & Vet Sci, AL4Anim, Fac Med Vet, P-1300477 Lisbon, Portugal.
   [Ribeiro, Isaura; Quelhas, Dulce] Ctr Hosp & Univ Santo Antonio CHUdSA, Ctr Genet Med Jacinto Magalhaes, Serv Genet Lab, Lab Bioquim Genet, P-4099001 Porto, Portugal.
   [Ribeiro, Isaura; Quelhas, Dulce] Univ Porto, UMIB Unit Multidisciplinary Res Biomed, ICBAS, P-4099002 Porto, Portugal.
   [Ribeiro, Isaura; Quelhas, Dulce] ITR Lab Integrat & Translat Res Populat Hlth, P-4050600 Porto, Portugal.
   [David, Hugo] Univ Porto, Fac Sci, Biol Dept, Rua Campo Alegre, Porto, Portugal.
C3 Instituto Nacional de Saude Dr. Ricardo Jorge; Universidade do Porto;
   Universidade de Lisboa; Universidade do Porto; Universidade do Porto
RP Alves, S (corresponding author), ISA IP, Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Res & Dev Unit, Rua Alexandre Herculano 321, P-4000055 Porto, Portugal.; Alves, S (corresponding author), Univ Porto, Ctr Study Anim Sci, Inst Ciencias Tecnol & Agroambiente, CECA ICETA, Praca Gomes Teixeira,Apartado 55142, P-4051401 Porto, Portugal.; Alves, S (corresponding author), Ave Univ Tecn, Associate Lab Anim & Vet Sci, AL4Anim, Fac Med Vet, P-1300477 Lisbon, Portugal.
EM marisa.encarnacao@insa.min-saude.pt;
   isauraribeiro.cgm@chporto.min-saude.pt; hugo.david@insa.min-saude.pt;
   francisca.coutinho@insa.min-saude.pt;
   dulce.quelhas@chporto.min-saude.pt; sandra.alves@insa.min-saude.pt
RI Coutinho, Maria/I-5146-2019; Encarnação, Marisa/AAY-4609-2020;
   Encarnacao, Marisa/P-4261-2016
OI Ribeiro, Isaura/0000-0003-1067-8248; Coutinho, Maria
   Francisca/0000-0002-2222-3622; Quelhas, Dulce/0000-0001-9989-9236;
   Encarnacao, Marisa/0000-0002-3726-2851; David, Hugo/0000-0002-9623-4017;
   Alves, Sandra/0000-0002-8881-9197
FU FCT-Fundaco para a Ciencia e a Tecnologia, I.P.
   [EXPL/BTM-TEC/1477/2021]; FCT/MCTES through national funds
   [UIDB/00211/2020]
FX This research was funded by national funds through FCT-Fundac & atilde;o
   para a Ciencia e a Tecnologia, I.P., in the scope of the project
   EXPL/BTM-TEC/1477/2021. This work was also financially supported with
   funding from FCT/MCTES (UIDB/00211/2020) through national funds.
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NR 78
TC 2
Z9 2
U1 0
U2 1
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2073-4425
J9 GENES-BASEL
JI Genes
PD NOV
PY 2023
VL 14
IS 11
AR 1990
DI 10.3390/genes14111990
PG 15
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA CD7S7
UT WOS:001123383200001
PM 38002933
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Drummond, MC
   Friderici, KH
AF Drummond, Meghan C.
   Friderici, Karen H.
TI A Novel Actin mRNA Splice Variant Regulates ACTG1 Expression
SO PLOS GENETICS
LA English
DT Article
ID C2C12 MYOBLAST DIFFERENTIATION; GAMMA-ACTIN; BETA-ACTIN;
   MUSCULAR-DYSTROPHY; NONCODING REGIONS; NONSENSE CODONS; DECAY; GENE;
   TRANSCRIPTS; TROPOMYOSIN
AB Cytoplasmic actins are abundant, ubiquitous proteins in nucleated cells. However, actin expression is regulated in a tissue- and development-specific manner. We identified a novel cytoplasmic-gamma-actin (Actg1) transcript that includes a previously unidentified exon (3a). Inclusion of this exon introduces an in-frame termination codon. We hypothesized this alternatively-spliced transcript down-regulates gamma-actin production by targeting these transcripts for nonsense-mediated decay (NMD). To address this, we investigated conservation between mammals, tissue-specificity in mice, and developmental regulation using C2C12 cell culture. Exon 3a is 80% similar among mammals and varies in length from 41 nucleotides in humans to 45 in mice. Though the predicted amino acid sequences are not similar between all species, inclusion of exon 3a consistently results in the in the introduction of a premature termination codon within the alternative Actg1 transcript. Of twelve tissues examined, exon 3a is predominantly expressed in skeletal muscle, cardiac muscle, and diaphragm. Splicing to include exon 3a is concomitant with previously described down-regulation of Actg1 in differentiating C2C12 cells. Treatment of differentiated C2C12 cells with an inhibitor of NMD results in a 7-fold increase in exon 3a-containing transcripts. Therefore, splicing to generate exon 3a-containing transcripts may be one component of Actg1 regulation. We propose that this post-transcriptional regulation occurs via NMD, in a process previously described as "regulated unproductive splicing and translation" (RUST).
C1 [Drummond, Meghan C.; Friderici, Karen H.] Michigan State Univ, Dept Microbiol & Mol Genet, E Lansing, MI 48824 USA.
C3 Michigan State University
RP Drummond, MC (corresponding author), NIDCD, NIH, Rockville, MD 20850 USA.
EM frideric@msu.edu
FU NIDCD [R01DC4568]
FX This work received funding from the NIDCD (www.nidcd.nih.gov), grant
   R01DC4568. The funders had no role in study design, data collection and
   analysis, decision to publish, or preparation of the manuscript.
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Z9 18
U1 0
U2 5
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD OCT
PY 2013
VL 9
IS 10
AR e1003743
DI 10.1371/journal.pgen.1003743
PG 10
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 299AR
UT WOS:000330367200002
PM 24098136
OA gold, Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Lutz, CS
   Cornett, AL
AF Lutz, Carol S.
   Cornett, Ashley L.
TI Regulation of genes in the arachidonic acid metabolic pathway by RNA
   processing and RNA-mediated mechanisms
SO WILEY INTERDISCIPLINARY REVIEWS-RNA
LA English
DT Review
ID MESSENGER-RNA; PROSTAGLANDIN SYNTHASE; CYCLOOXYGENASE-2 EXPRESSION;
   CARDIOVASCULAR MORTALITY; MYOCARDIAL-INFARCTION; BINDING PROTEIN;
   FACTOR-I; COX-2; POLYADENYLATION; MICRORNA
AB Arachidonic acid (AA) is converted by enzymes in an important metabolic pathway to produce molecules known collectively as eicosanoids, 20 carbon molecules with significant physiological and pathological functions in the human body. Cyclooxygenase (COX) enzymes work in one arm of the pathway to produce prostaglandins (PGs) and thromboxanes (TXs), while the actions of 5-lipoxygenase (ALOX5 or 5LO) and its associated protein (ALOX5AP or FLAP) work in the other arm of themetabolic pathway to produce leukotrienes (LTs). The expression of the COX and ALOX5 enzymes that convert AA to eicosanoids is highly regulated at the post- or co-transcriptional level by alternative mRNA splicing, alternative mRNA polyadenylation, mRNA stability, and microRNA (miRNA) regulation. This review article will highlight these mechanisms of mRNA modulation. (C) 2013 John Wiley & Sons, Ltd.
C1 [Lutz, Carol S.] Rutgers State Univ, New Jersey Med Sch, Dept Biochem & Mol Biol, Newark, NJ 07102 USA.
   Rutgers State Univ, Grad Sch Biomed Sci, Newark, NJ 07102 USA.
C3 Rutgers University System; Rutgers University New Brunswick; Rutgers
   University Biomedical & Health Sciences; Rutgers University Newark;
   Rutgers University System; Rutgers University New Brunswick; Rutgers
   University Newark
RP Lutz, CS (corresponding author), Rutgers State Univ, New Jersey Med Sch, Dept Biochem & Mol Biol, Newark, NJ 07102 USA.
EM lutzcs@njms.rutgers.edu
FU American Heart Association [12GRNT9120029]; Lung Cancer Research
   Foundation; American Heart Association (AHA) [12GRNT9120029] Funding
   Source: American Heart Association (AHA)
FX We would like to thank Pat O'Connor and the members of the Lutz lab for
   stimulating discussions and suggestions. We would also like to
   acknowledge the American Heart Association #12GRNT9120029 and a research
   grant from the Lung Cancer Research Foundation for support to CSL.
   Cheers to all.
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NR 119
TC 16
Z9 17
U1 0
U2 19
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1757-7004
EI 1757-7012
J9 WIRES RNA
JI Wiley Interdiscip. Rev.-RNA
PD SEP
PY 2013
VL 4
IS 5
BP 593
EP 605
DI 10.1002/wrna.1183
PG 13
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 201UX
UT WOS:000323169600009
PM 23956046
DA 2025-04-10
ER

PT J
AU Castaldi, PJ
   Abood, A
   Farber, CR
   Sheynkman, GM
AF Castaldi, Peter J.
   Abood, Abdullah
   Farber, Charles R.
   Sheynkman, Gloria M.
TI Bridging the splicing gap in human genetics with long-read RNA
   sequencing: finding the protein isoform drivers of disease
SO HUMAN MOLECULAR GENETICS
LA English
DT Review
ID QUANTITATIVE TRAIT LOCI; WIDE ASSOCIATION; PRIMARY LINK; TRANSCRIPTOME;
   REVEALS; GENOME; EXPRESSION; VARIANTS; ANNOTATION; COMPLEX
AB Aberrant splicing underlies many human diseases, including cancer, cardiovascular diseases and neurological disorders. Genome-wide mapping of splicing quantitative trait loci (sQTLs) has shown that genetic regulation of alternative splicing is widespread. However, identification of the corresponding isoform or protein products associated with disease-associated sQTLs is challenging with short-read RNA-seq, which cannot precisely characterize full-length transcript isoforms. Furthermore, contemporary sQTL interpretation often relies on reference transcript annotations, which are incomplete. Solutions to these issues may be found through integration of newly emerging long-read sequencing technologies. Long-read sequencing offers the capability to sequence full-length mRNA transcripts and, in some cases, to link sQTLs to transcript isoforms containing disease-relevant protein alterations. Here, we provide an overview of sQTL mapping approaches, the use of long-read sequencing to characterize sQTL effects on isoforms, the linkage of RNA isoforms to protein-level functions and comment on future directions in the field. Based on recent progress, long-read RNA sequencing promises to be part of the human disease genetics toolkit to discover and treat protein isoforms causing rare and complex diseases.
C1 [Castaldi, Peter J.] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA.
   [Castaldi, Peter J.] Brigham & Womens Hosp, Dept Med, Div Gen Med & Primary Care, 75 Francis St, Boston, MA 02115 USA.
   [Abood, Abdullah; Farber, Charles R.; Sheynkman, Gloria M.] Univ Virginia, Sch Med, Ctr Publ Hlth Genom, Charlottesville, VA 22903 USA.
   [Abood, Abdullah; Farber, Charles R.; Sheynkman, Gloria M.] Univ Virginia, Sch Med, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA.
   [Farber, Charles R.] Univ Virginia, Sch Med, Dept Publ Hlth Sci, Charlottesville, VA 22903 USA.
   [Sheynkman, Gloria M.] Univ Virginia, Dept Mol Physiol & Biol Phys, Charlottesville, VA 22903 USA.
   [Sheynkman, Gloria M.] Univ Virginia, UVA Comprehens Canc Ctr, Charlottesville, VA 22903 USA.
C3 Harvard University; Harvard University Medical Affiliates; Brigham &
   Women's Hospital; Harvard University; Harvard University Medical
   Affiliates; Brigham & Women's Hospital; University of Virginia;
   University of Virginia; University of Virginia; University of Virginia;
   University of Virginia
RP Sheynkman, GM (corresponding author), Univ Virginia, Sch Med, Mol Physiol & Biol Phys, Pinn Hall,Rm 3023,1340 Jefferson Pk Ave, Charlottesville, VA 22903 USA.
EM gs9yr@virginia.edu
RI Abood, Abdullah/FQZ-1980-2022; Sheynkman, Gloria/AEA-8603-2022
OI Abood, Abdullah/0000-0001-5714-6375
FU National Institute of Health [R01HL124233, R01HL147326, R01AR077992,
   5R01AR071657, R01LM014017, T32LM012416]; National Heart Lung and Blood
   Institute [R01HL124233] Funding Source: NIH RePORTER; National Institute
   of Arthritis and Musculoskeletal and Skin Diseases [R01AR071657,
   R01AR077992] Funding Source: NIH RePORTER; NIH Office of the Director
   [R01HL147326] Funding Source: NIH RePORTER
FX This work was funded by the National Institute of Health by the
   following grants: R01HL124233 and R01HL147326 to P.J.C., R01AR077992 and
   5R01AR071657 to C.R.F., R01LM014017 to G. M.S. and T32LM012416 training
   grant award to A.A.
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NR 169
TC 14
Z9 14
U1 0
U2 22
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD OCT 20
PY 2022
VL 31
IS R1
BP R123
EP R136
DI 10.1093/hmg/ddac196
EA AUG 2022
PG 14
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 5M0SJ
UT WOS:000847267100001
PM 35960994
OA Green Published
DA 2025-04-10
ER

PT J
AU Johnson, JM
   Verkerke, ARP
   Maschek, JA
   Ferrara, PJ
   Lin, CT
   Kew, KA
   Neufer, PD
   Lodhi, IJ
   Cox, JE
   Funai, K
AF Johnson, Jordan M.
   Verkerke, Anthony R. P.
   Maschek, J. Alan
   Ferrara, Patrick J.
   Lin, Chien-Te
   Kew, Kimberly A.
   Neufer, P. Darrell
   Lodhi, Irfan J.
   Cox, James E.
   Funai, Katsuhiko
TI Alternative splicing of UCP1 by non-cell-autonomous action of PEMT
SO MOLECULAR METABOLISM
LA English
DT Article
DE Brown adipose tissue; UCP1; PEMT; Phosphatidylcholine; Cardiolipin;
   Alternative splicing
ID ADAPTIVE NONSHIVERING THERMOGENESIS; BROWN ADIPOSE-TISSUE; UNCOUPLING
   PROTEIN; INDUCED OBESITY; WHITE FAT; PHOSPHATIDYLETHANOLAMINE;
   MITOCHONDRIA; MICE; METHYLATION; CARDIOLIPIN
AB Objective: Phosphatidylethanolamine methyltransferase (PEMT) generates phosphatidylcholine (PC), the most abundant phospholipid in the mitochondria and an important acyl chain donor for cardiolipin (CL) biosynthesis. Mice lacking PEMT (PEMTKO) are cold-intolerant when fed a high-fat diet (HFD) due to unclear mechanisms. The purpose of this study was to determine whether PEMT-derived phospholipids are important for the function of uncoupling protein 1 (UCP1) and thus for maintenance of core temperature.
   Methods: To test whether PEMT-derived phospholipids are important for UCP1 function, we examined cold-tolerance and brown adipose (BAT) mitochondria from PEMTKO mice with or without HFD feeding. We complemented these studies with experiments on mice lacking functional CL due to tafazzin knockdown (TAZKD). We generated several conditional mouse models to study the tissue-specific roles of PEMT, including mice with BAT-specific knockout of PEMT (PEMT-BKO).
   Results: Chow- and HFD-fed PEMTKO mice completely lacked UCP1 protein in BAT, despite a lack of difference in mRNA levels, and the mice were accordingly cold-intolerant. While HFD-fed PEMTKO mice exhibited reduced mitochondrial CL content, this was not observed in chow-fed PEMTKO mice or TAZKD mice, indicating that the lack of UCP1 was not attributable to CL deficiency. Surprisingly, the PEMT-BKO mice exhibited normal UCP1 protein levels. Knockout of PEMT in the adipose tissue (PEMT-AKO), liver (PEMT-LKO), or skeletal muscle (PEMT-MKO) also did not affect UCP1 protein levels, suggesting that lack of PEMT in other non-UCP1-expressing cells communicates to BAT to suppress UCP1. Instead, we identified an untranslated UCP1 splice variant that was triggered during the perinatal period in the PEMTKO mice.
   Conclusions: PEMT is required for UCP1 splicing that yields functional protein. This effect is derived by PEMT in nonadipocytes that communicates to BAT during embryonic development. Future research will focus on identifying the non-cell-autonomous PEMT-dependent mechanism of UCP1 splicing. (C) 2019 The Authors. Published by Elsevier GmbH.
C1 [Johnson, Jordan M.; Verkerke, Anthony R. P.; Maschek, J. Alan; Ferrara, Patrick J.; Cox, James E.; Funai, Katsuhiko] Univ Utah, Diabet & Metab Res Ctr, 15 N 2030 E, Salt Lake City, UT 84112 USA.
   [Johnson, Jordan M.; Verkerke, Anthony R. P.; Ferrara, Patrick J.; Funai, Katsuhiko] Univ Utah, Dept Nutr & Integrat Physiol, 250 S 1850 E,RM 214, Salt Lake City, UT 84112 USA.
   [Johnson, Jordan M.; Verkerke, Anthony R. P.; Ferrara, Patrick J.; Cox, James E.] Univ Utah, Dept Phys Therapy & Athlet Training, 520 Wakara Way, Salt Lake City, UT 84108 USA.
   [Johnson, Jordan M.; Verkerke, Anthony R. P.; Ferrara, Patrick J.; Lin, Chien-Te; Kew, Kimberly A.; Neufer, P. Darrell; Funai, Katsuhiko] East Carolina Univ, East Carolina Diabet & Obes Inst, 115 Heart Dr,4101 ECHI, Greenville, NC USA.
   [Maschek, J. Alan; Cox, James E.] Univ Utah, Metabol Core Res Facil, 15 N Med Dr East RM A306, Salt Lake City, UT 84112 USA.
   [Maschek, J. Alan; Cox, James E.] Univ Utah, Dept Biochem, 15 N Med Dr East RM 4100, Salt Lake City, UT 84112 USA.
   [Kew, Kimberly A.] East Carolina Univ, Dept Chem, Greenville, NC 27858 USA.
   [Lodhi, Irfan J.] Washington Univ, Sch Med, Div Endocrinol Metab & Lipid Res, 660 S Euclid Ave, St Louis, MO 63110 USA.
   [Funai, Katsuhiko] Univ Utah, Mol Med Program, 15 N 2030 E RM 4145, Salt Lake City, UT 84112 USA.
C3 Utah System of Higher Education; University of Utah; Utah System of
   Higher Education; University of Utah; Utah System of Higher Education;
   University of Utah; University of North Carolina; East Carolina
   University; Utah System of Higher Education; University of Utah; Utah
   System of Higher Education; University of Utah; University of North
   Carolina; East Carolina University; Washington University (WUSTL); Utah
   System of Higher Education; University of Utah
RP Funai, K (corresponding author), 15 N 2030 E RM 3145, Salt Lake City, UT 84112 USA.
EM kfunai@health.utah.edu
RI Liuzzi, Juan/AAG-5057-2019
OI Johnson, Jordan/0000-0002-2971-2322; Lin, Chien-Te/0000-0001-6449-006X;
   Lodhi, Irfan/0000-0002-6246-9862; Kew, Kimberly/0000-0002-0400-0433
FU NIH [DK095774, DK107397, DK109888, AG063077, DK115867, DK118333,
   DK110656]; American Heart Association [19PRE34380991, 18PRE33960491];
   Larry H. & Gail Miller Family Foundation;  [S10 OD016232];  [S10
   OD021505];  [U54 DK110858]; American Heart Association (AHA)
   [19PRE34380991, 18PRE33960491] Funding Source: American Heart
   Association (AHA)
FX We thank Dr. Dennis Vance from the University of Alberta and Dr. Karyn
   Esser from the University of Florida for donating the PEMTKO mice and
   HSA-MerCreMer mice, respectively. We also thank Dr. Kai Ge from the
   NIDDK for donating the SV40T brown preadipocytes for this study. We
   thank Diana L. Lim for her assistance with the figures. This project was
   funded by NIH grants DK095774, DK107397, DK109888, and AG063077 to K.F.,
   DK115867 and DK118333 to I.J.L., DK110656 to P.D.N., American Heart
   Association Predoctoral fellowships 19PRE34380991 to J.M.J. and
   18PRE33960491 to A.R.P.V, and the Larry H. & Gail Miller Family
   Foundation to P.J.F. The University of Utah Metabolomics Core Facility
   is supported by S10 OD016232, S10 OD021505, and U54 DK110858.
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NR 43
TC 13
Z9 16
U1 3
U2 8
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 2212-8778
J9 MOL METAB
JI Mol. Metab.
PD JAN
PY 2020
VL 31
BP 55
EP 66
DI 10.1016/j.molmet.2019.10.007
PG 12
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA KA4ZI
UT WOS:000505805400006
PM 31918922
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Eliasson, MJL
   Blackshaw, S
   Schell, MJ
   Snyder, SH
AF Eliasson, MJL
   Blackshaw, S
   Schell, MJ
   Snyder, SH
TI Neuronal nitric oxide synthase alternatively spliced forms: Prominent
   functional localizations in the brain
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
   AMERICA
LA English
DT Article
DE ornithine transcarbamoylase; postsynaptic density protein 95; citrulline
ID ELECTRON-MICROSCOPIC IMMUNOCYTOCHEMISTRY; FOCAL CEREBRAL-ISCHEMIA;
   NADPH-DIAPHORASE; MESSENGER-RNA; RAT-BRAIN; EXPRESSION; SUBUNITS;
   PROTEIN; ENZYME; LIGHT
AB Neuronal nitric-oxide synthase (nNOS) is subject to alternative splicing, In mice with targeted deletions of exon 2 (nNOS(Delta/Delta)), two alternatively spliced forms, nNOS beta and gamma, which lack exon 2, have been described, We have compared localizations of native nNOS alpha and nNOS beta and gamma by in situ hybridization and immunohistochemistry in wild-type and nNOS(Delta/Delta) mice, To assess nNOS catalytic activity in intact animals we localized citrulline, which is formed stoichiometrically with NO, by immunohistochemistry. nNOS beta is prominent In several brain regions of wild-type animals and shows 2-to 3-fold up-regulation in the cortex and striatum of nNOS(Delta/Delta) animals, The persistence of much nNOS mRNA and protein, and distinct citrulline immunoreactivity (cit-IR) in the ventral cochlear nuclei and some cit-IR in the striatum and lateral tegmental nuclei, indicate that nNOS beta is a major functional form of the enzyme in these regions, Thus, nNOS beta, and possibly other uncharacterized splice forms, appear to be important physiological sources of NO in discrete brain regions and may account for the relatively modest level of impairment in nNOS(Delta/Delta) animals.
C1 JOHNS HOPKINS UNIV,SCH MED,DEPT NEUROSCI,BALTIMORE,MD 21205.
   JOHNS HOPKINS UNIV,SCH MED,DEPT PHARMACOL & MOL SCI,BALTIMORE,MD 21205.
   JOHNS HOPKINS UNIV,SCH MED,DEPT PSYCHIAT & BEHAV SCI,BALTIMORE,MD 21205.
C3 Johns Hopkins University; Johns Hopkins University; Johns Hopkins
   University
FU NIDA NIH HHS [P50 DA000266, DA-00074, DA-00266, K05 DA000074] Funding
   Source: Medline
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NR 42
TC 253
Z9 274
U1 0
U2 2
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD APR 1
PY 1997
VL 94
IS 7
BP 3396
EP 3401
DI 10.1073/pnas.94.7.3396
PG 6
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA WR930
UT WOS:A1997WR93000117
PM 9096405
OA Green Published
DA 2025-04-10
ER

PT J
AU Mao, M
   Song, SS
   Li, X
   Lu, JY
   Li, J
   Zhao, WF
   Liu, HM
   Liu, JX
   Zeng, B
AF Mao, Min
   Song, Shasha
   Li, Xin
   Lu, Jiayao
   Li, Jie
   Zhao, Weifang
   Liu, Hanmin
   Liu, Jingxin
   Zeng, Bin
TI Advances in epigenetic modifications of autophagic process in pulmonary
   hypertension
SO FRONTIERS IN IMMUNOLOGY
LA English
DT Review
DE pulmonary hypertension; autophagy; epigenetic modifications; histone
   modifications; DNA methylation; alternative RNA splicing
ID HISTONE DEACETYLASE INHIBITORS; MUSCLE-CELL PROLIFERATION; INDUCE
   AUTOPHAGY; DNA-BINDING; BECLIN 1; APOPTOSIS; PROTEIN; TRANSCRIPTION;
   DEATH; METHYLATION
AB Pulmonary hypertension is characterized by pulmonary arterial remodeling that results in increased pulmonary vascular resistance, right ventricular failure, and premature death. It is a threat to public health globally. Autophagy, as a highly conserved self-digestion process, plays crucial roles with autophagy-related (ATG) proteins in various diseases. The components of autophagy in the cytoplasm have been studied for decades and multiple studies have provided evidence of the importance of autophagic dysfunction in pulmonary hypertension. The status of autophagy plays a dynamic suppressive or promotive role in different contexts and stages of pulmonary hypertension development. Although the components of autophagy have been well studied, the molecular basis for the epigenetic regulation of autophagy is less understood and has drawn increasing attention in recent years. Epigenetic mechanisms include histone modifications, chromatin modifications, DNA methylation, RNA alternative splicing, and non-coding RNAs, which control gene activity and the development of an organism. In this review, we summarize the current research progress on epigenetic modifications in the autophagic process, which have the potential to be crucial and powerful therapeutic targets against the autophagic process in pulmonary hypertension development.
C1 [Mao, Min; Li, Xin; Liu, Hanmin] Sichuan Univ, West China Second Univ Hosp, Dept Pediat Pulmonol & Immunol, Chengdu, Peoples R China.
   [Mao, Min; Li, Xin; Liu, Hanmin; Liu, Jingxin; Zeng, Bin] Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Peoples R China.
   [Mao, Min; Li, Xin; Liu, Hanmin] Sichuan Univ, Natl Hlth Commiss, NHC Key Lab Chronobiol, Chengdu, Peoples R China.
   [Mao, Min; Li, Xin; Liu, Hanmin] Sichuan Univ, Related Dis West China Univ Hosp 2, Joint Lab Lung Dev, Chengdu, Peoples R China.
   [Mao, Min; Li, Xin; Liu, Hanmin] Sichuan Univ, Fudan Univ, West China Univ Hosp 2, West China Inst Women & Childrens HlthSch Life Sci, Chengdu, Peoples R China.
   [Mao, Min; Li, Xin; Liu, Hanmin] Sichuan Univ, West China Univ Hosp 2, Sichuan Birth Defects Clin Res Ctr, Chengdu, Peoples R China.
   [Song, Shasha; Lu, Jiayao] Shenzhen Technol Univ, Coll Pharm, Shenzhen, Peoples R China.
   [Li, Jie] Shenzhen Reyson Biotechnol Co Ltd, Mkt Dept, Shenzhen, Peoples R China.
   [Li, Jie] Nanjing Evertop Elect Ltd, Nanjing, Peoples R China.
   [Zhao, Weifang] Hebei Huamin Pharmaceut Co Ltd, North China Pharmaceut Co Ltd NCPC, Qual Management Dept Int Registrat, Shijiazhuang, Peoples R China.
C3 Sichuan University; Sichuan University; Sichuan University; Sichuan
   University; Sichuan University; Fudan University; Sichuan University;
   Shenzhen Technology University
RP Liu, HM (corresponding author), Sichuan Univ, West China Second Univ Hosp, Dept Pediat Pulmonol & Immunol, Chengdu, Peoples R China.; Liu, HM; Liu, JX; Zeng, B (corresponding author), Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Peoples R China.; Liu, HM (corresponding author), Sichuan Univ, Natl Hlth Commiss, NHC Key Lab Chronobiol, Chengdu, Peoples R China.; Liu, HM (corresponding author), Sichuan Univ, Related Dis West China Univ Hosp 2, Joint Lab Lung Dev, Chengdu, Peoples R China.; Liu, HM (corresponding author), Sichuan Univ, Fudan Univ, West China Univ Hosp 2, West China Inst Women & Childrens HlthSch Life Sci, Chengdu, Peoples R China.; Liu, HM (corresponding author), Sichuan Univ, West China Univ Hosp 2, Sichuan Birth Defects Clin Res Ctr, Chengdu, Peoples R China.
EM liuhm@scu.edu.cn; liujingxin@sztu.edu.cn; zengbin@sztu.edu.cn
RI Mao, Min/IAQ-2666-2023; Song, Shasha/LGY-6289-2024; Lu,
   Jiayao/K-3026-2019; 刘, 敬欣/AAW-9254-2021
FU National Natural Science Foundation of China [20211063010052, 32200606,
   2021YFA1301302]; Natural Science Foundation Project of Chongqing
   [20202BDH80007]; Key Special Projects of National Key Research and
   Development Plan; Belt and Road Initiative; China-Africa Science and
   Technology Cooperation Project of the Department of Science and
   Technology of Jiangxi Province [JSZZ202301022]; Natural Science
   Foundation of Top Talent of SZTU [81802508]; Self-developed Experimental
   Instrument and Equipment Project of SZTU [81700056]; 
   [CSTB2022NSCQ-MSX0206];  [GDRC202118]
FX This work was supported by grants from the National Natural Science
   Foundation of China (No.81802508, No. 81700056), (Grant & nbsp;No:
   20211063010052), the Natural Science Foundation Project of Chongqing
   (CSTB2022NSCQ-MSX0206), the Key Special Projects of National Key
   Research and Development Plan (2021YFA1301302), the Belt and Road
   Initiative and China-Africa Science and Technology Cooperation Project
   of the Department of Science and Technology of Jiangxi Province
   (20202BDH80007), the National Natural Science Foundation of China
   (32200606), the Natural Science Foundation of Top Talent of SZTU
   (GDRC202118), and the Self-developed Experimental Instrument and
   Equipment Project of SZTU (JSZZ202301022).
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NR 129
TC 6
Z9 6
U1 3
U2 19
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-3224
J9 FRONT IMMUNOL
JI Front. Immunol.
PD JUN 16
PY 2023
VL 14
AR 1206406
DI 10.3389/fimmu.2023.1206406
PG 14
WC Immunology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Immunology
GA K8SP5
UT WOS:001019083400001
PM 37398657
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Blech-Hermoni, Y
   Dasgupta, T
   Coram, RJ
   Ladd, AN
AF Blech-Hermoni, Yotam
   Dasgupta, Twishasri
   Coram, Ryan J.
   Ladd, Andrea N.
TI Identification of Targets of CUG-BP, Elav-Like Family Member 1 (CELF1)
   Regulation in Embryonic Heart Muscle
SO PLOS ONE
LA English
DT Article
ID BINDING PROTEIN CUGBP1; MESSENGER-RNA DECAY; GU-RICH ELEMENTS;
   GENE-EXPRESSION; ALTERNATIVE POLYADENYLATION; DEVELOPMENTAL EXPRESSION;
   INCREASES TRANSLATION; SPLICING EVENTS; MODEL; OVEREXPRESSION
AB CUG-BP, Elav-like family member 1 (CELF1) is a highly conserved RNA binding protein that regulates pre-mRNA alternative splicing, polyadenylation, mRNA stability, and translation. In the heart, CELF1 is expressed in the myocardium, where its levels are tightly regulated during development. CELF1 levels peak in the heart during embryogenesis, and aberrant up-regulation of CELF1 in the adult heart has been implicated in cardiac pathogenesis in myotonic dystrophy type 1, as well as in diabetic cardiomyopathy. Either inhibition of CELF activity or over-expression of CELF1 in heart muscle causes cardiomyopathy in transgenic mice. Nonetheless, many of the cardiac targets of CELF1 regulation remain unknown. In this study, to identify cardiac targets of CELF1 we performed cross-linking immunoprecipitation (CLIP) for CELF1 from embryonic day 8 chicken hearts. We identified a previously unannotated exon in MYH7B as a novel target of CELF1-mediated regulation. We demonstrated that knockdown of CELF1 in primary chicken embryonic cardiomyocytes leads to increased inclusion of this exon and decreased MYH7B levels. We also investigated global changes in the transcriptome of primary embryonic cardiomyocytes following CELF1 knockdown in a published RNA-seq dataset. Pathway and network analyses identified strong associations between CELF1 and regulation of cell cycle and translation. Important regulatory proteins, including both RNA binding proteins and a cardiac transcription factor, were affected by loss of CELF1. Together, these data suggest that CELF1 is a key regulator of cardiomyocyte gene expression.
C1 [Blech-Hermoni, Yotam; Dasgupta, Twishasri; Coram, Ryan J.; Ladd, Andrea N.] Cleveland Clin, Lerner Res Inst, Dept Cellular & Mol Med, Cleveland, OH 44106 USA.
   [Blech-Hermoni, Yotam; Ladd, Andrea N.] Case Western Reserve Univ, Sch Med, Dept Mol Biol & Microbiol, Cell Biol Program, Cleveland, OH 44106 USA.
   [Blech-Hermoni, Yotam] NINDS, Hereditary Muscle Dis Unit, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA.
   [Dasgupta, Twishasri] Case Western Reserve Univ, Dept Mol Biol & Microbiol, Cleveland, OH 44106 USA.
   [Coram, Ryan J.] Ohio Univ, Heritage Coll Osteopath Med, Athens, OH 45701 USA.
C3 Cleveland Clinic Foundation; University System of Ohio; Case Western
   Reserve University; National Institutes of Health (NIH) - USA; NIH
   National Institute of Neurological Disorders & Stroke (NINDS);
   University System of Ohio; Case Western Reserve University; University
   System of Ohio; Ohio University
RP Ladd, AN (corresponding author), Cleveland Clin, Lerner Res Inst, Dept Cellular & Mol Med, Cleveland, OH 44106 USA.; Ladd, AN (corresponding author), Case Western Reserve Univ, Sch Med, Dept Mol Biol & Microbiol, Cell Biol Program, Cleveland, OH 44106 USA.
EM ladda@ccf.org
FU National Institutes of Health [R01HL089376, 5T32GM008056]
FX This work was supported by a grant to ANL from the National Institutes
   of Health (R01HL089376). YB-H was supported in part by a National
   Institutes of Health training grant (5T32GM008056). The National
   Institutes of Health had no involvement in the study design, collection,
   analysis, or interpretation of the data, or the writing or submission of
   this article for publication.
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NR 84
TC 24
Z9 26
U1 0
U2 9
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD FEB 11
PY 2016
VL 11
IS 2
AR e0149061
DI 10.1371/journal.pone.0149061
PG 22
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA DD6RE
UT WOS:000370050700058
PM 26866591
OA gold, Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Quiñones-Lombraña, A
   Blanco, JG
AF Quinones-Lombrana, Adolfo
   Blanco, Javier G.
TI Comparative analysis of the DYRK1A-SRSF6-TNNT2 pathway in myocardial
   tissue from individuals with and without Down syndrome
SO EXPERIMENTAL AND MOLECULAR PATHOLOGY
LA English
DT Article
DE Dual specificity tyrosine phosphorylation regulated kinase 1A (DYRK1A);
   Down syndrome; Cardiac troponin; Alternative splicing
ID TROPONIN-T ISOFORMS; FORCE DEVELOPMENT; CA2+ SENSITIVITY; INCREASED
   DOSAGE; EXPRESSION; DYRK1A; HEART; OVEREXPRESSION; INHIBITION;
   ACTIVATION
AB Down syndrome (trisomy 21) is characterized by genome-wide imbalances that result in a range of phenotypic manifestations. Altered expression of DYRK1A in the trisomic context has been linked to some Down syndrome phenotypes. DYRK1A regulates the splicing of cardiac troponin (TNNT2) through a pathway mediated by the master splicing factor SRSF6. Here, we documented the expression of the DYRK1A-SRSF6-TNNT2 pathway in a collection of myocardial samples from persons with and without Down syndrome. Results suggest that "gene dosage effect" may drive the expression of DYRK1A mRNA but has no effect on DYRK1A protein levels in trisomic myocardium. The levels of phosphorylated DYRK1A-Tyr321 tended to be higher (similar to 35%) in myocardial samples from donors with Down syndrome. The levels of phosphorylated SRSF6 were 2.6-fold higher in trisomic myocardium. In line, the expression of fetal TNNT2 variants was higher in myocardial tissue with trisomy 21. These data provide a representative picture on the extent of inter-individual variation in myocardial DYRK1A-SRSF6-TNNT2 expression in the context of Down syndrome.
C1 [Quinones-Lombrana, Adolfo; Blanco, Javier G.] SUNY Buffalo, Dept Pharmaceut Sci, 470 Kapoor Hall, Buffalo, NY 14214 USA.
C3 State University of New York (SUNY) System; University at Buffalo, SUNY
RP Blanco, JG (corresponding author), SUNY Buffalo, Dept Pharmaceut Sci, 470 Kapoor Hall, Buffalo, NY 14214 USA.
EM jgblanco@buffalo.edu
RI Quinones Lombrana, Adolfo/AAJ-6592-2021
OI Quinones Lombrana, Adolfo/0000-0002-3784-3760; QUINONES LOMBRANA,
   ADOLFO/0000-0001-6935-2934
FU National Institute of General Medical Sciences [GM073646]
FX This study was supported by the National Institute of General Medical
   Sciences (award GM073646).
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NR 35
TC 6
Z9 6
U1 0
U2 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0014-4800
EI 1096-0945
J9 EXP MOL PATHOL
JI Exp. Mol. Pathol.
PD OCT
PY 2019
VL 110
AR 104268
DI 10.1016/j.yexmp.2019.104268
PG 6
WC Pathology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pathology
GA JA9BD
UT WOS:000488144100005
PM 31201803
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Tripodi, G
   Modica, R
   Reina, C
   Bianchi, G
AF Tripodi, G
   Modica, R
   Reina, C
   Bianchi, G
TI Tissue-specific modulation of β-adducin transcripts in Milan
   hypertensive rats
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE adducin; real-time quantitative RT-PCR; hypertension; genetic;
   alternative splicing; rats; inbred MHS
ID HUMAN ALPHA-ADDUCIN; BLOOD-PRESSURE; GLY460TRP POLYMORPHISM; GENOMIC
   ORGANIZATION; SALT SENSITIVITY; POINT MUTATIONS; GENE; ASSOCIATION;
   DISEASE; ALLELE
AB Genetic variants in Adducins, a family of cytoskeleton proteins (alpha, beta, and gamma) encoded by three genes, have been associated with primary hypertension in humans and in Milan hypertensive (MHS) rats. The present paper describes the identification of a rat beta4 alternative splicing isoform differing from beta subunit for an in-frame insertion of 18 amino acids and showing a polymorphic site (R592W) between MHS and its normotensive control (MNS). Furthermore, we established a quantitative real-time PCR assay for analyzing the tissue expression of adducin gene family and determining whether any subunit transcript demonstrates altered expression during the development of MHS hypertension, especially in tissues relevant for the control of cardiovascular phenotypes (i.e., kidney, left ventricle, and large arteries). Among the three adducins only P transcripts were modulated, in a tissue-specific manner, during the development of hypertension in MHS, compared to age-matched MNS controls. A 43% decrease in renal outer medulla was already present at the prehypertensive phase; a 70% decrease in femoral artery and 66% increase in left ventricle were observed after the development of hypertension. Surprisingly beta4-Add, which is a minor component of total beta transcripts, is drastically reduced up to 88% in all MHS tissues. Alteration in beta-Add expression levels may account, at least in part, for the observed phenotypic changes in MHS hypertension. (C) 2003 Elsevier Science (USA). All rights reserved.
C1 Prassis Sigma Tau Res Inst, I-20029 Milan, Italy.
   Univ Vita Salute, Div Nefrol Dialisi & Ipertens, Osped San Raffaele, Milan, Italy.
C3 Vita-Salute San Raffaele University; IRCCS Ospedale San Raffaele
RP Prassis Sigma Tau Res Inst, Via Forlanini 1, I-20029 Milan, Italy.
EM grazia.tripodi@prassis.it
OI Bianchi, Giuseppe/0000-0002-8365-3618
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NR 34
TC 3
Z9 3
U1 0
U2 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD MAR 28
PY 2003
VL 303
IS 1
BP 230
EP 237
DI 10.1016/S0006-291X(03)00330-9
PG 8
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 665LK
UT WOS:000182122000036
PM 12646192
DA 2025-04-10
ER

PT J
AU Nystoriak, MA
   Murakami, K
   Penar, PL
   Wellman, GC
AF Nystoriak, Matthew A.
   Murakami, Kentaro
   Penar, Paul L.
   Wellman, George C.
TI Cav1.2 splice variant with exon 9*is critical for regulation
   of cerebral artery diameter
SO AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
LA English
DT Article
DE vascular smooth muscle; calcium channels; cerebral blood flow
ID SMOOTH-MUSCLE-CELLS; SENSITIVE CALCIUM-CHANNEL; CA2+ CHANNELS;
   SUBARACHNOID HEMORRHAGE; FUNCTIONAL EXPRESSION; MOLECULAR DIVERSITY;
   POTASSIUM CHANNELS; ALPHA(1) SUBUNIT; BETA-SUBUNITS; MYOGENIC TONE
AB Nystoriak MA, Murakami K, Penar PL, Wellman GC. Ca(v)1.2 splice variant with exon 9* is critical for regulation of cerebral artery diameter. Am J Physiol Heart Circ Physiol 297: H1820-H1828, 2009. First published August 28, 2009; doi:10.1152/ajpheart.00326.2009.-L- type voltage-dependent Ca2+ channels (VDCCs) are essential for numerous processes in the cardiovascular and nervous systems. Alternative splicing modulates proteomic composition of Ca(v)1.2 to generate functional variation between channel isoforms. Here, we describe expression and function of Ca(v)1.2 channels containing alternatively spliced exon 9* in cerebral artery myocytes. RT-PCR showed expression of Ca(v)1.2 splice variants both containing (alpha C-1(9/9*/10)) and lacking (alpha C-1(9/10)) exon 9* in intact rabbit and human cerebral arteries. With the use of laser capture microdissection and RT-PCR, expression of mRNA for both alpha C-1(9/9*/10) and alpha C-1(9/10) was demonstrated in isolated cerebral artery myocytes. Quantitative real-time PCR revealed significantly greater alpha C-1(9/9*/10) expression relative to alpha C-1(9/10) in intact rabbit cerebral arteries compared with cardiac tissue and cerebral cortex. To demonstrate a functional role for alpha C-1(9/9*/10), smooth muscle of intact cerebral arteries was treated with antisense oligonucleotides targeting alpha C-1(9/9*/10) (alpha C-1(9/9*/10)-AS) or exon 9 (alpha C-1-AS), expressed in all Ca(v)1.2 splice variants, by reversible permeabilization and organ cultured for 1-4 days. Treatment with alpha C-1(9/9*/10)-AS reduced maximal constriction induced by elevated extracellular K+ ([K+](o)) by similar to 75% compared with alpha C-1(9/9*/10)-sense-treated arteries. Maximal constriction in response to the Ca2+ ionophore ionomycin and [K+](o) EC50 values were not altered by antisense treatment. Decreases in maximal [K+](o)-induced constriction were similar between alpha C-1(9/9*/10)-AS and alpha C-1-AS groups (22.7 +/- 9% and 25.6 +/- 4% constriction, respectively). We conclude that although cerebral artery myocytes express both alpha C-1(9/9*/10) and alpha C-1(9/10) VDCC splice variants, alpha C-1(9/9*/10) is functionally dominant in the control of cerebral artery diameter.
C1 [Nystoriak, Matthew A.; Murakami, Kentaro; Wellman, George C.] Univ Vermont, Dept Pharmacol, Coll Med, Burlington, VT 05405 USA.
   [Nystoriak, Matthew A.; Murakami, Kentaro; Wellman, George C.] Univ Vermont, Dept Surg, Coll Med, Burlington, VT 05405 USA.
   [Penar, Paul L.; Wellman, George C.] Univ Vermont, Div Neurol Surg, Coll Med, Burlington, VT 05405 USA.
C3 University of Vermont; University of Vermont; University of Vermont
RP Wellman, GC (corresponding author), Univ Vermont, Dept Pharmacol, Coll Med, Given Bldg,89 Beaumont Ave, Burlington, VT 05405 USA.
EM george.wellman@uvm.edu
FU Totman Medical Research Trust; Peter Martin Brain Aneurysm Endowment;
   NIH [P20-RR-16435, R01-HL-078983]; American Heart Association
   [0815736D]; American Heart Association (AHA) [0815736D] Funding Source:
   American Heart Association (AHA)
FX This work was supported by the Totman Medical Research Trust Fund, the
   Peter Martin Brain Aneurysm Endowment, NIH Grants P20-RR-16435 and
   R01-HL-078983, and a American Heart Association predoctoral fellowship
   award (0815736D).
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NR 39
TC 20
Z9 22
U1 0
U2 2
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6135
J9 AM J PHYSIOL-HEART C
JI Am. J. Physiol.-Heart Circul. Physiol.
PD NOV
PY 2009
VL 297
IS 5
BP H1820
EP H1828
DI 10.1152/ajpheart.00326.2009
PG 9
WC Cardiac & Cardiovascular Systems; Physiology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Physiology
GA 511DF
UT WOS:000271143400034
PM 19717733
OA Green Published
DA 2025-04-10
ER

PT J
AU Lin, Y
   Tan, KT
   Liu, J
   Kong, X
   Huang, ZR
   Xu, XQ
AF Lin, Yu
   Tan, Kar Tong
   Liu, Jing
   Kong, Xu
   Huang, Zhengrong
   Xu, Xiu Qin
TI Global profiling of Rbm24 bound RNAs uncovers a multi-tasking RNA
   binding protein
SO INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
LA English
DT Article
DE RNA binding protein; Rbm24; RIP-Chip; Alternative splicing;
   Cardiomyocyte
ID FAMILIAL DILATED CARDIOMYOPATHY; MYC MESSENGER-RNA; CODING-REGION;
   MYOGENIC DIFFERENTIATION; IN-VITRO; GENE; EXPRESSION; MICE;
   IDENTIFICATION; CELLS
AB RNA binding proteins serve as critical molecular switches in a multitude of post-transcriptional regulatory processes. In the heart and muscles, the tissue specific RNA binding protein, Rbm24, is known to play important developmental roles via driving different post-transcriptional processes. Nonetheless, the currently identified molecular targets and regulatory pathways seem inadequate to completely explain the observed developmental effects upon Rbm24 knockdown/knockout. Here, by performing RNA Immunoprecipitation and coupling it to microarrays (RIP-Chip), we have generated an atlas of the mRNA binding repertoire of Rbm24. Further functional evaluation of its targets led to the elucidation of novel roles for Rbm24 in post-transcriptional processing, besides its already known roles in regulation of mRNA stability and alternative splicing. Interestingly, Rbm24 is found to cause the destabilization of Chrm2 via binding to an element in the coding region. In addition, Rbm24 is also found to have an uncharacterized role in driving the generation of isoforms with alternative transcriptional start sites. We have, for the first time, demonstrated that Rbm24 is a multi-tasking RNA binding protein capable of regulating its bound targets via a range of mechanisms.
C1 [Lin, Yu; Liu, Jing; Kong, Xu; Xu, Xiu Qin] Xiamen Univ, Inst Stem Cell & Regenerat Med, Coll Med, Chengzhi Bldg,Xiangan Campus, Xiamen 361100, Fujian, Peoples R China.
   [Tan, Kar Tong] Natl Univ Singapore, Canc Sci Inst Singapore, Singapore, Singapore.
   [Xu, Xiu Qin] Xiamen Univ, ShenZhen Res Inst, Xiamen, Peoples R China.
   [Huang, Zhengrong] Xiamen Univ, Affiliated Hosp 1, Dept Cardiol, Xiamen 361000, Fujian, Peoples R China.
C3 Xiamen University; National University of Singapore; Xiamen University;
   Xiamen University
RP Xu, XQ (corresponding author), Xiamen Univ, Inst Stem Cell & Regenerat Med, Coll Med, Chengzhi Bldg,Xiangan Campus, Xiamen 361100, Fujian, Peoples R China.; Huang, ZR (corresponding author), Xiamen Univ, Affiliated Hosp 1, Dept Cardiol, Xiamen 361000, Fujian, Peoples R China.
EM huangzhengrong@xmu.edu.cn; xuxq@xmu.edu.cn
RI Kong, Fanxu/GSI-7088-2022
OI Tan, Kar-Tong/0000-0002-0393-1930
FU National Natural Science Foundation of China (NSFC) [81670286]; Major
   State Basic Research Development Program of China (973 program)
   [2014CB965101]; Xiamen Joint Research Fund for Major Diseases
   [3502Z20159014]; Shenzhen Free Exploration of Basic Research Fund
   [JCYJ20170306140656626]; Xiamen Oceanic Administration [14PYY051SF04];
   Xiamen University
FX The authors thank present and past members of Xu lab on this project, in
   particular Yue Huang, Luping Liang, Kang Yang and Tao Zhang for
   technical assistance and discussion. We thank Dr. William Claycomb for
   sharing HL-1 cells. This work was supported by the National Natural
   Science Foundation of China (NSFC) [grant number 81670286], the Major
   State Basic Research Development Program of China (973 program) [grant
   number 2014CB965101], Xiamen Joint Research Fund for Major Diseases
   [grant number 3502Z20159014], Shenzhen Free Exploration of Basic
   Research Fund [grant number JCYJ20170306140656626], and Research Fund of
   Xiamen Oceanic Administration [grant number 14PYY051SF04]. Funding for
   open access charge: Xiamen University.
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NR 45
TC 14
Z9 19
U1 0
U2 12
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 1357-2725
EI 1878-5875
J9 INT J BIOCHEM CELL B
JI Int. J. Biochem. Cell Biol.
PD JAN
PY 2018
VL 94
BP 10
EP 21
DI 10.1016/j.biocel.2017.11.002
PG 12
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA FU5JJ
UT WOS:000423888700003
PM 29104163
DA 2025-04-10
ER

PT J
AU Ma, DH
   Armugam, A
   Jeyaseelan, K
AF Ma, DH
   Armugam, A
   Jeyaseelan, K
TI Expression of cardiotoxin-2 gene - Cloning, characterization and
   deletion analysis of the promoter
SO EUROPEAN JOURNAL OF BIOCHEMISTRY
LA English
DT Article
DE alternative promoter; cardiotoxin; Naja sputatrix; tissue-specific
   expression
ID NAJA-NAJA-SPUTATRIX; ALTERNATIVE PROMOTERS; TRANSCRIPTION FACTORS;
   BINDING-PROTEIN; TAIWAN COBRA; SEQUENCE; RECEPTOR; CELLS; FAMILY; TOXIN
AB This report is the first study of the regulation of expression of a toxin gene and it also demonstrates the novel finding that the cardiotoxin (CTX)-2 gene from Naja sputatrix is expressed in the venom gland as well as in other tissues in the snake, such as liver, heart and muscle. The venom gland produces a 500-bp (spliced) CTX-2 mRNA as the final transcript. However, the liver produces two types of CTX-2 mRNA, of which the unspliced transcript (1 kb) is predominant; the 500 bp spliced transcript is the minor species. This differential expression of the CTX gene has been attributed to the usage of alternative promoter consisting of independent TATA boxes and corresponding transcription initiation sites. Among the several transcription factors that have been identified by a search of the TFIID database, the participation of two glucocorticoid elements in the expression of the CTX gene has been demonstrated by promoter deletion analysis. Putative binding sites for SP-1, C/EBP, CACCC-binding factor and at least two unknown binding factors have also been identified by DNase I footprinting of the promoter.
C1 Natl Univ Singapore, Fac Med, Dept Biochem, Singapore 119260, Singapore.
C3 National University of Singapore
RP Jeyaseelan, K (corresponding author), Natl Univ Singapore, Fac Med, Dept Biochem, 10 Med Dr, Singapore 119260, Singapore.
OI Armugam, Arunmozhiarasi/0000-0002-6064-1980
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NR 35
TC 23
Z9 25
U1 0
U2 3
PU BLACKWELL SCIENCE LTD
PI OXFORD
PA P O BOX 88, OSNEY MEAD, OXFORD OX2 0NE, OXON, ENGLAND
SN 0014-2956
J9 EUR J BIOCHEM
JI Eur. J. Biochem.
PD MAR
PY 2001
VL 268
IS 6
BP 1844
EP 1850
DI 10.1046/j.1432-1327.2001.02059.x
PG 7
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 415CT
UT WOS:000167703500039
PM 11248705
DA 2025-04-10
ER

PT J
AU Loriol, C
   Dupuy, F
   Rampal, R
   Dlugosz, MA
   Haltiwanger, RS
   Maftah, A
   Germot, A
AF Loriol, C.
   Dupuy, F.
   Rampal, R.
   Dlugosz, M. A.
   Haltiwanger, R. S.
   Maftah, A.
   Germot, A.
TI Molecular evolution of protein 0-fucosyltransferase genes and
   splice variants
SO GLYCOBIOLOGY
LA English
DT Article
DE alternative splicing; fucose; gene organization; 0-fucosyltransferase
   activity; Pofut1 and Pofut2 phylogeny
ID GROWTH FACTOR-LIKE; O-LINKED FUCOSE; THROMBOSPONDIN TYPE-1 REPEATS;
   NOTCH-DELTA INTERACTIONS; HAMSTER OVARY CELLS; C-MANNOSYLATION; LUNATIC
   FRINGE; FACTOR DOMAIN; FUCOSYLATION; TRANSFERASE
AB O-Fucose has been described on both epidermal growth factor-like (EGF-like) repeats and Thrombospondin type I repeats (TSRs). The enzyme adding fucose to EGF-like repeats, protein O-fucosyltransferase 1 (Pofut1), is a soluble protein located in the lumen of endoplasmic reticulum (ER). A second protein O-fucosyltransferase, Pofut2, quite divergent from its homolog Pofut1, has recently been shown to O-fucosylate TSRs but not EGF-like repeats. To date, Pofut1 genes have only been characterized in human, mouse, and fly, and Pofut2 in mouse, fly, and partially in the nematode Caenorhabditis elegans. Here, we report cDNA sequences and genomic structures of bovine Pofut1 and Pofut2 genes and describe for the first time five alternative spliced transcripts for each gene. Only one transcript for both Pofut1 and Pofut2 encodes an active bovine 0-fucosyltransferase. Variant transcript distribution was examined in 13 bovine tissues. Transcripts encoding active forms are ubiquitous, whereas other forms possess a more restricted tissue-expression profile. Sequence comparison and phylogenetic analyses revealed that both Pofut genes are present as a single copy in animal genomes, and their exon-intron organizations are conserved among vertebrates. The last common ancestor of all analyzed bilaterian species would be predicted to possess polyexonic Pofilt genes in their genome.
C1 Univ Limoges, Inst Sci Vie & Sante, Fac Sci & Tech, CNRS,GDR 2590,UMR 1061,INRA,Unite Genet Mol Anim, F-87060 Limoges, France.
   SUNY Stony Brook, Dept Biochem & Cell Biol, Inst Cell & Dev Biol, Stony Brook, NY 11794 USA.
C3 Centre National de la Recherche Scientifique (CNRS); Universite de
   Limoges; INRAE; State University of New York (SUNY) System; Stony Brook
   University
RP Maftah, A (corresponding author), Univ Limoges, Inst Sci Vie & Sante, Fac Sci & Tech, CNRS,GDR 2590,UMR 1061,INRA,Unite Genet Mol Anim, F-87060 Limoges, France.
EM maftah@unilim.fr
OI Germot, Agnes/0000-0002-9010-9178
FU NIGMS NIH HHS [T32 GM008444, R01 GM061126] Funding Source: Medline
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NR 53
TC 22
Z9 24
U1 0
U2 10
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 0959-6658
J9 GLYCOBIOLOGY
JI Glycobiology
PD AUG
PY 2006
VL 16
IS 8
BP 736
EP 747
DI 10.1093/glycob/cwj124
PG 12
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 067DJ
UT WOS:000239281600008
PM 16679357
DA 2025-04-10
ER

PT J
AU Htet, M
   Ursitti, JA
   Chen, L
   Fisher, SA
AF Htet, Myo
   Ursitti, Jeanine A.
   Chen, Ling
   Fisher, Steven A.
TI Editing of the myosin phosphatase regulatory subunit suppresses
   angiotensin II induced hypertension via sensitization to nitric oxide
   mediated vasodilation
SO PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
LA English
DT Article
DE Smooth muscle; cGMP; Gene editing; Blood pressure; Mesenteric artery
ID VASCULAR SMOOTH-MUSCLE; HIGH BLOOD-PRESSURE; PROTEIN PHOSPHATASE;
   EXPRESSION; MATURATION; MECHANISM; ISOFORMS; FORCE
AB Alternative splicing of exon 24 (E24) of the myosin phosphatase regulatory subunit (Mypt1) tunes smooth muscle sensitivity to NO/cGMP-mediated vasorelaxation and thereby controls blood pressure (BP) in otherwise normal mice. This occurs via the toggling in or out of a C-terminal leucine zipper (LZ) motif required for hetero-dimerization with and activation by cGMP-dependent protein kinase cGK1 alpha. Here we tested the hypothesis that editing (deletion) of E24, by shifting to the LZ positive isoform of Mypt1, would suppress the hypertensive response to angiotensin II (AngII). To test this, mice underwent tamoxifen-inducible and smooth muscle-specific deletion of E24 (E24 cKO) at age 6 weeks followed by a chronic slow-pressor dose of AngII (400 ng/kg/min) plus additional stressors. E24 cKO suppressed the hypertensive response to AngII alone or with the addition of a high salt diet. This effect was not a function of altered salt balance as there were no differences in intake or renal excretion of sodium. This effect was NO dependent as L-NAME in the drinking water caused an exaggerated hypertensive response in the E24cKO mice. E24cKO mouse mesenteric arteries were more sensitive to DEA/NO-induced vasorelaxation and less responsive to AngII- and alpha-adrenergic-induced vasoconstriction at baseline. Only the latter two effects were still present after 2 weeks of chronic AngII treatment. We conclude that editing of Mypt1 E24, by shifting the expression of naturally occurring isoforms and sensitizing to NO-mediated vasodilation, could be a novel approach to the treatment of human hypertension.
C1 [Htet, Myo; Ursitti, Jeanine A.; Chen, Ling; Fisher, Steven A.] Univ Maryland, Dept Med Cardiol & Physiol & Biophys, Baltimore, MD 21201 USA.
   [Chen, Ling] Univ Maryland, Dept Physiol, Baltimore, MD 21201 USA.
   [Fisher, Steven A.] Univ Maryland, Dept Med, Div Cardiovasc Med, Baltimore, MD 21201 USA.
C3 University System of Maryland; University of Maryland Baltimore;
   University System of Maryland; University of Maryland Baltimore;
   University System of Maryland; University of Maryland Baltimore
RP Fisher, SA (corresponding author), Univ Maryland, Dept Med Cardiol & Physiol & Biophys, Baltimore, MD 21201 USA.; Fisher, SA (corresponding author), Univ Maryland, Dept Med, Div Cardiovasc Med, Baltimore, MD 21201 USA.
EM mhtet@som.umaryland.edu; jursitti@som.umaryland.edu;
   lingchen@som.umaryland.edu; sfisher1@som.umaryland.edu
RI CHEN, LING/AAA-8943-2021
OI Htet, Myo/0000-0001-7653-1658; fisher, steven/0000-0002-8785-2227
FU NIH [R01 HL142971-A1, 3R01HL130750-03S1]; VA MERIT award [BX004443]
FX This work was supported by NIH R01 HL142971-A1 and VA MERIT award
   BX004443 to SAF and NIH supplemental award 3R01HL130750-03S1 to JU.
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NR 35
TC 3
Z9 3
U1 0
U2 2
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 0031-6768
EI 1432-2013
J9 PFLUG ARCH EUR J PHY
JI Pflugers Arch.
PD APR
PY 2021
VL 473
IS 4
BP 611
EP 622
DI 10.1007/s00424-020-02488-w
EA NOV 2020
PG 12
WC Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology
GA RN7FH
UT WOS:000584975800001
PM 33145641
DA 2025-04-10
ER

PT J
AU Kaur, S
   Awad, D
   Finney, RP
   Meyer, TJ
   Singh, SP
   Cam, MC
   Karim, BO
   Warner, AC
   Roberts, DD
AF Kaur, Sukhbir
   Awad, Duha
   Finney, Richard P. P.
   Meyer, Thomas J. J.
   Singh, Satya P. P.
   Cam, Margaret C. C.
   Karim, Baktiar O. O.
   Warner, Andrew C. C.
   Roberts, David D. D.
TI CD47-Dependent Regulation of Immune Checkpoint Gene Expression and MYCN
   mRNA Splicing in Murine CD8 and Jurkat T Cells
SO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
LA English
DT Article
DE adaptive immunity; tumor microenvironment; immune checkpoints; CD47;
   thrombospondin-1; n-Myc; alternative splicing; cytotoxic T cells
ID N-MYC; CD47 BLOCKADE; C-MYC; CANCER; THROMBOSPONDIN-1; INTEGRIN; GROWTH
AB Elevated expression of CD47 in some cancers is associated with poor survival related to its function as an innate immune checkpoint when expressed on tumor cells. In contrast, elevated CD47 expression in cutaneous melanomas is associated with improved survival. Previous studies implicated protective functions of CD47 expressed by immune cells in the melanoma tumor microenvironment. RNA sequencing analysis of responses induced by CD3 and CD28 engagement on wild type and CD47-deficient Jurkat T lymphoblast cells identified additional regulators of T cell function that were also CD47-dependent in mouse CD8 T cells. MYCN mRNA expression was upregulated in CD47-deficient cells but downregulated in CD47-deficient cells following activation. CD47 also regulated alternative splicing that produces two N-MYC isoforms. The CD47 ligand thrombospondin-1 inhibited expression of these MYCN mRNA isoforms, as well as induction of the oncogenic decoy MYCN opposite strand (MYCNOS) RNA during T cell activation. Analysis of mRNA expression data for melanomas in The Cancer Genome Atlas identified a significant coexpression of MYCN with CD47 and known regulators of CD8 T cell function. Thrombospondin-1 inhibited the induction of TIGIT, CD40LG, and MCL1 mRNAs following T cell activation in vitro. Increased mRNA expression of these T cell transcripts and MYCN in melanomas was associated with improved overall survival.
C1 [Kaur, Sukhbir; Awad, Duha; Roberts, David D. D.] NCI, Lab Pathol, Ctr Canc Res, NIH, Bethesda, MD 20892 USA.
   [Finney, Richard P. P.; Meyer, Thomas J. J.; Cam, Margaret C. C.] NCI, CCR Collaborat Bioinformat, Resource, Off Sci & Technol Resources,NIH, Bethesda, MD 20892 USA.
   [Singh, Satya P. P.] NIAID, Inflammat Biol Sect, Lab Mol Immunol, NIH, Bethesda, MD 20892 USA.
   [Karim, Baktiar O. O.; Warner, Andrew C. C.] NCI, Mol Histopathol Lab, Lab Anim Sci Program, Frederick Natl Lab Canc Res,NIH, Frederick, MD 21702 USA.
C3 National Institutes of Health (NIH) - USA; NIH National Cancer Institute
   (NCI); National Institutes of Health (NIH) - USA; NIH National Cancer
   Institute (NCI); National Institutes of Health (NIH) - USA; NIH National
   Institute of Allergy & Infectious Diseases (NIAID); National Institutes
   of Health (NIH) - USA; NIH National Cancer Institute (NCI); Frederick
   National Laboratory for Cancer Research
RP Kaur, S; Roberts, DD (corresponding author), NCI, Lab Pathol, Ctr Canc Res, NIH, Bethesda, MD 20892 USA.
EM kaurs@mail.nih.gov; droberts@mail.nih.gov
RI Singh, Satya P/AAI-2932-2020; Kaur, Sukhbir/ADW-6023-2022; Roberts,
   David/A-9699-2008
OI Roberts, David/0000-0002-2481-2981; Cam, Margaret/0000-0001-8190-9766;
   Singh, Satya P/0000-0003-3159-3622; Kaur, Sukhbir/0000-0003-0513-6225
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NR 79
TC 1
Z9 1
U1 0
U2 6
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
SN 1661-6596
EI 1422-0067
J9 INT J MOL SCI
JI Int. J. Mol. Sci.
PD FEB
PY 2023
VL 24
IS 3
AR 2612
DI 10.3390/ijms24032612
PG 19
WC Biochemistry & Molecular Biology; Chemistry, Multidisciplinary
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Chemistry
GA 8U6ZW
UT WOS:000930098600001
PM 36768931
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Pasutto, F
   Zenkel, M
   Hoja, U
   Berner, D
   Uebe, S
   Ferrazzi, F
   Schödel, J
   Liravi, P
   Ozaki, M
   Paoli, D
   Frezzotti, P
   Mizoguchi, T
   Nakano, S
   Kubota, T
   Manabe, S
   Salvi, E
   Manunta, P
   Cusi, D
   Gieger, C
   Wichmann, HE
   Aung, T
   Khor, CC
   Kruse, FE
   Reis, A
   Schlötzer-Schrehardt, U
AF Pasutto, Francesca
   Zenkel, Matthias
   Hoja, Ursula
   Berner, Daniel
   Uebe, Steffen
   Ferrazzi, Fulvia
   Schoedel, Johannes
   Liravi, Panah
   Ozaki, Mineo
   Paoli, Daniela
   Frezzotti, Paolo
   Mizoguchi, Takanori
   Nakano, Satoko
   Kubota, Toshiaki
   Manabe, Shinichi
   Salvi, Erika
   Manunta, Paolo
   Cusi, Daniele
   Gieger, Christian
   Wichmann, Heinz-Erich
   Aung, Tin
   Khor, Chiea Chuen
   Kruse, Friedrich E.
   Reis, Andre
   Schloetzer-Schrehardt, Ursula
TI Pseudoexfoliation syndrome-associated genetic variants affect
   transcription factor binding and alternative splicing of LOXL1
SO NATURE COMMUNICATIONS
LA English
DT Article
ID LYSYL OXIDASE-LIKE; SINGLE NUCLEOTIDE POLYMORPHISM; ABDOMINAL
   AORTIC-ANEURYSMS; COMMON SEQUENCE VARIANTS; GENOME-WIDE ASSOCIATION;
   PELVIC ORGAN PROLAPSE; MESSENGER-RNA DECAY; EXFOLIATION SYNDROME; RISK
   ALLELE; GLAUCOMA
AB Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data sets. We focus on a 3.5-kb four-component polymorphic locus positioned spanning introns 1 and 2 of LOXL1 with enhancer-like chromatin features. We find that the rs11638944: C4G transversion exerts a cis-acting effect on the expression levels of LOXL1, mediated by differential binding of the transcription factor RXR alpha (retinoid X receptor alpha) and by modulating alternative splicing of LOXL1, eventually leading to reduced levels of LOXL1 mRNA in cells and tissues of risk allele carriers. These findings uncover a functional mechanism by which common noncoding variants influence LOXL1 expression.
C1 [Pasutto, Francesca; Uebe, Steffen; Ferrazzi, Fulvia; Reis, Andre] Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Schwabachanlage 10, D-91054 Erlangen, Germany.
   [Zenkel, Matthias; Hoja, Ursula; Berner, Daniel; Liravi, Panah; Kruse, Friedrich E.; Schloetzer-Schrehardt, Ursula] Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Dept Ophthalmol, Schwabachanlage 6, D-91054 Erlangen, Germany.
   [Schoedel, Johannes] Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Dept Hypertens & Nephrol, Ulmenweg 18, D-91054 Erlangen, Germany.
   [Ozaki, Mineo] Ozaki Eye Hosp, 1-15 Kamezaki, Hyuga, Miyazaki 8830066, Japan.
   [Paoli, Daniela] Osped Monfalcone, Ctr Glaucomi, Via Galvani 1, I-34074 Monfalcone, Italy.
   [Frezzotti, Paolo] Univ Siena, Dept Med Surg & Neurosci, Ophthalmol Unit, Viale Bracci SNC, I-53100 Siena, Italy.
   [Mizoguchi, Takanori] Mizoguchi Eye Clin, 6-13 Tawara Machi, Sasebo, Nagasaki 8570016, Japan.
   [Nakano, Satoko; Kubota, Toshiaki] Oita Univ, Dept Ophthalmol, Fac Med, 1-1 Idaigaoka, Hasana, Oita 8795593, Japan.
   [Manabe, Shinichi] Hayashi Eye Hosp, Hakata Ku, 4-23-35 Hakataekimae, Fukuoka 8120011, Japan.
   [Salvi, Erika] Univ Milan, Dept Hlth Sci, Via Ortles 22-4, I-20139 Milan, Italy.
   [Manunta, Paolo] Univ Vita Salute San Raffaele, Dept Nephrol, Via Olgettina 58, I-20132 Milan, Italy.
   [Cusi, Daniele] Natl Res Ctr ITB CNR, Inst Biomed Technol, Via Fratelli Cervi 93, I-20090 Segrate, Italy.
   [Gieger, Christian; Wichmann, Heinz-Erich] Helmholtz Ctr Munich, Inst Epidemiol, Ingolstadter Landstr 1, D-85764 Munich, Germany.
   [Aung, Tin] Singapore Natl Eye Ctr, Singapore Eye Res Inst, 11 Third Hosp Ave, Singapore 168751, Singapore.
   [Khor, Chiea Chuen] Genome Inst Singapore, 60 Biopolis St,Genome Bldg 02-01, Singapore 138672, Singapore.
C3 University of Erlangen Nuremberg; University of Erlangen Nuremberg;
   University of Erlangen Nuremberg; University of Siena; Oita University;
   University of Milan; Vita-Salute San Raffaele University; Consiglio
   Nazionale delle Ricerche (CNR); Istituto di Tecnologie Biomediche
   (ITB-CNR); Helmholtz Association; Helmholtz-Center Munich - German
   Research Center for Environmental Health; National University of
   Singapore; Singapore National Eye Center; Agency for Science Technology
   & Research (A*STAR); A*STAR - Genome Institute of Singapore (GIS)
RP Schlötzer-Schrehardt, U (corresponding author), Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Dept Ophthalmol, Schwabachanlage 6, D-91054 Erlangen, Germany.
EM Ursula.schloetzer-schrehardt@uk-erlangen.de
RI Kubota, Toshiaki/AAN-4334-2021; Gieger, Christian/A-3083-2013; Wichmann,
   Heinz/AAA-5695-2022; Salvi, Erika/AAA-1415-2019; Tin, Aung/B-6521-2009;
   Uebe, Steffen/JXX-3960-2024; Ferrazzi, Fulvia/C-1161-2008; Manunta,
   Paolo/ABH-5476-2020; CUSI, MARIA GRAZIA/K-2377-2018; Salvi,
   Erika/C-1033-2015; Reis, Andre/D-2309-2009
OI Ferrazzi, Fulvia/0000-0003-4011-4638; CUSI, MARIA
   GRAZIA/0000-0001-8869-8164; Schodel, Johannes/0000-0002-3587-8839; Reis,
   AlessanRSS/0000-0001-8486-7469; Nakano, Satoko/0000-0003-4016-7676;
   Zenkel, Matthias/0000-0003-0141-120X; Salvi, Erika/0000-0002-2724-2291;
   Reis, Andre/0000-0002-6301-6363; Manunta, Paolo/0000-0003-3976-9696
FU German Research Foundation [SCHL 366/8-1, SFB-539]; Interdisciplinary
   Center for Clinical Research (IZKF) of the University Hospital,
   Erlangen, Germany
FX This work was supported by the German Research Foundation (SCHL 366/8-1
   and SFB-539) and the Interdisciplinary Center for Clinical Research
   (IZKF) of the University Hospital, Erlangen, Germany. We would like to
   thank Dr Miguel Coca-Prados, Fundacion de Investigacion Oftalmologica,
   Oviedo, Spain, for providing the human nonpigmented ciliary epithelial
   cell line ODM-2, Ekaterina Gedova, Myriam Eitl, Jasmine Onderka, and
   Victoria Lauer for excellent technical support, as well as Prof. Dr
   Julio Vera and Martin Eberhardt from the Department of Dermatology for
   discussions on in silico prediction tools for transcription factor
   binding sites.
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NR 72
TC 47
Z9 48
U1 0
U2 5
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD MAY 23
PY 2017
VL 8
AR 15466
DI 10.1038/ncomms15466
PG 16
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA EV5ZN
UT WOS:000401849000001
PM 28534485
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Luque, EA
   Spinner, BJ
   Dube, S
   Dube, DK
   Lemanski, LF
AF Luque, EA
   Spinner, BJ
   Dube, S
   Dube, DK
   Lemanski, LF
TI Differential expression of a novel isoform of alpha-tropomyosin in
   cardiac and skeletal muscle of the Mexican axolotl (Ambystoma mexicanum)
SO GENE
LA English
DT Article
DE cDNA; lambda gt11 library; alternate splicing; RT-PCR; salamander
ID SMOOTH; ACTIN; GENE; CELLS; ONSET
AB Alternative mRNA splicing is a fundamental process in eukaryotes that contributes to tissue-specific and developmentally regulated patterns of tropomyosin (TM) gene expression. Northern blot analyses suggest the presence of multiple transcripts of tropomyosin in skeletal and cardiac muscle of adult Mexican axolotls. We have cloned and sequenced two tropomyosin cDNAs designated ATmC-1 and ATmC-2 from axolotl heart tissue and one TM cDNA from skeletal muscle, designated ATmS-1. Nucleotide sequence analyses suggest that ATmC-1 and ATmC-2 are the products of the same alpha-TM gene produced via alternate splicing, whereas ATmC-1 and ATmS-1 are the identical isoforms generated from the a-gene. RT-PCR analysis using isoform-specific primer pairs and detector oligonucleotides suggests that ATmC-2 is expressed predominantly in adult axolotl hearts. ATmC-2 is a novel isoform, which unlike ATmC-1 and other known striated muscle isoforms expresses exon 2a instead of exon 2b.
C1 SUNY SYRACUSE,HLTH SCI CTR,DEPT ANAT & CELL BIOL,SYRACUSE,NY 13210.
   SUNY SYRACUSE,HLTH SCI CTR,DEPT MED,SYRACUSE,NY 13210.
C3 State University of New York (SUNY) System; State University of New York
   (SUNY) Upstate Medical Center; State University of New York (SUNY)
   System; State University of New York (SUNY) Upstate Medical Center
FU NHLBI NIH HHS [HL-37702, HL-32184] Funding Source: Medline
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NR 15
TC 24
Z9 25
U1 1
U2 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD FEB 7
PY 1997
VL 185
IS 2
BP 175
EP 180
DI 10.1016/S0378-1119(96)00606-3
PG 6
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA WJ327
UT WOS:A1997WJ32700004
PM 9055812
DA 2025-04-10
ER

PT J
AU Vrbsky, J
   Vinarsky, V
   Perestrelo, AR
   De la Cruz, JO
   Martino, F
   Pompeiano, A
   Izzi, V
   Hlinomaz, O
   Rotrekl, V
   Sudol, M
   Pagliari, S
   Forte, G
AF Vrbsky, Jan
   Vinarsky, Vladimir
   Perestrelo, Ana Rubina
   De La Cruz, Jorge Oliver
   Martino, Fabiana
   Pompeiano, Antonio
   Izzi, Valerio
   Hlinomaz, Ota
   Rotrekl, Vladimir
   Sudol, Marius
   Pagliari, Stefania
   Forte, Giancarlo
TI Evidence for discrete modes of YAP1 signaling via mRNA splice
   isoforms in development and diseases
SO GENOMICS
LA English
DT Article
DE YAP1 isoforms; Alternative splicing; Tissue-specific expression; Cardiac
   differentiation
ID YES-ASSOCIATED PROTEIN; ORGAN SIZE; NEGATIVE REGULATOR; WW DOMAIN;
   HIPPO; PATHWAY; DIFFERENTIATION; ACTIVATION; MECHANICS; ONCOGENE
AB Yes-associated protein 1 (YAP1) is a transcriptional co-activator downstream of Hippo pathway. The pathway exerts crucial roles in organogenesis and its dysregulation is associated with the spreading of different cancer types. YAP1 gene encodes for multiple protein isoforms, whose specific functions are not well defined. We demonstrate the splicing of isoform-specific mRNAs is controlled in a stage- and tissue-specific fashion. We designed expression vectors encoding for the most-represented isoforms of YAP1 with either one or two WW domains and studied their specific signaling activities in YAP1 knock-out cell lines. YAP1 isoforms display both common and unique functions and activate distinct transcriptional programs, as the result of their unique protein interactomes. By generating TEAD-based transcriptional reporter cell lines, we demonstrate individual YAP1 isoforms display unique effects on cell proliferation and differentiation. Finally, we illustrate the complexity of the regulation of Hippo-YAP1 effector in physiological and in pathological conditions of the heart.
C1 [Vrbsky, Jan; Vinarsky, Vladimir; Perestrelo, Ana Rubina; De La Cruz, Jorge Oliver; Martino, Fabiana; Pompeiano, Antonio; Hlinomaz, Ota; Pagliari, Stefania; Forte, Giancarlo] St Annes Univ Hosp, Int Clin Res Ctr ICRC, CZ-65691 Brno, Czech Republic.
   [Vinarsky, Vladimir; De La Cruz, Jorge Oliver; Martino, Fabiana; Forte, Giancarlo] Competence Ctr Mech Regenerat Med, INTERREG ATCZ133, CZ-62500 Brno, Czech Republic.
   [Martino, Fabiana; Rotrekl, Vladimir] Masaryk Univ, Dept Biol, CZ-62500 Brno, Czech Republic.
   [Izzi, Valerio] Univ Oulu, FI-90014 Oulu, Finland.
   [Izzi, Valerio] Finnish Canc Inst, Helsinki 00130, Finland.
   [Sudol, Marius] Yong Loo Li Sch Med, Dept Physiol, Block MD9,2 Med Dr 04-01, Singapore 117597, Singapore.
   [Sudol, Marius] Mechanobiol Inst, T Lab, 5A Engn Dr 1, Singapore 117411, Singapore.
   [Sudol, Marius] Icahn Sch Med Mt Sinai, Dept Med, New York, NY 10029 USA.
C3 St. Anne's University Hospital Brno (FNUSA); Masaryk University Brno;
   University of Oulu; Icahn School of Medicine at Mount Sinai
RP Vrbsky, J; Forte, G (corresponding author), St Annes Univ Hosp, Int Clin Res Ctr ICRC, CZ-65691 Brno, Czech Republic.
EM jan.vrbsky@fnusa.cz; giancarlo.forte@fnusa.cz
RI Hlinomaz, Ota/I-3906-2016; Martino, Fabiana/AAY-2170-2021; Forte,
   Giancarlo/M-1447-2017; Oliver-De La Cruz, Jorge/B-5909-2019; Rotrekl,
   Vladimir/C-8378-2018
OI Pagliari, Stefania/0000-0003-2414-1468; vinarsky,
   vladimir/0000-0002-3384-7705; Forte, Giancarlo/0000-0002-1341-1023;
   Oliver-De La Cruz, Jorge/0000-0002-7536-8067; Martino,
   Fabiana/0000-0001-9667-6184; Rotrekl, Vladimir/0000-0002-1298-0849
FU European Regional Development Fund - Project MAGNET
   [CZ.02.1.01/0.0/0.0/15_003/0000492]; European Regional Development Fund
   [ATCZ133]; National University of Singapore [R-185-000-2710-133,
   R-185-000-2710-733]; Mechanobiology Institute (MBI) [R-714-018-006-271];
   Institute of Molecular and Cell Biology [M-R02010]
FX Quantitative proteomics analysis was performed at the Proteomics Core
   Facility of Sahlgrenska Academy, University of Gothenburg. The
   Proteomics Core Facility is grateful to the Inga-Britt and Arne
   Lundbergs Forskningsstiftlese for the donation of the Orbitrap Fusion
   Tribrid MS instrument. This work was supported by the European Regional
   Development Fund - Project MAGNET (No.
   CZ.02.1.01/0.0/0.0/15_003/0000492) and the European Regional Development
   Fund in frame of the project Kompetenzzentrum MechanoBiologie (ATCZ133)
   in the Interreg V-A Austria - Czech Republic programme. M.S. would like
   to acknowledge generous grants from the National University of Singapore
   (R-185-000-2710-133 and -733), the Mechanobiology Institute (MBI)
   (R-714-018-006-271), and the Institute of Molecular and Cell Biology
   (M-R02010). Additionally, the authors would like to thank Nives Skorja
   for providing skMC cDNA.
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NR 83
TC 10
Z9 10
U1 0
U2 12
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0888-7543
EI 1089-8646
J9 GENOMICS
JI Genomics
PD MAY
PY 2021
VL 113
IS 3
BP 1349
EP 1365
DI 10.1016/j.ygeno.2021.03.009
EA MAR 2021
PG 17
WC Biotechnology & Applied Microbiology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biotechnology & Applied Microbiology; Genetics & Heredity
GA SR7TN
UT WOS:000661249200008
PM 33713822
OA hybrid
DA 2025-04-10
ER

PT J
AU Philippou, A
   Stavropoulou, A
   Sourla, A
   Pissimissis, N
   Halapas, A
   Maridaki, M
   Koutsilieris, M
AF Philippou, A.
   Stavropoulou, A.
   Sourla, A.
   Pissimissis, N.
   Halapas, A.
   Maridaki, M.
   Koutsilieris, M.
TI Characterization of a rabbit antihuman mechano growth factor (MGF)
   polyclonal antibody against the last 24 amino acids of the E domain
SO IN VIVO
LA English
DT Article
DE IGF-1 isoforms; human skeletal muscle; rat myocardium; MGF peptide; MGF
   antibody
ID I SPLICE VARIANTS; HUMAN SKELETAL-MUSCLE; STEM CELL ACTIVATION; IGF-I;
   MOLECULAR RESPONSES; RESISTANCE EXERCISE; EXPRESSION; PEPTIDE; GENE;
   AUTOCRINE
AB The human insulin-like growth factor-1 (IGF-1) gene gives rise to multiple, heterogeneous mRNA transcripts by alternative splicing, thus producing different IGF-1 isoforms. The mechano growth factor (MGF) is an IGF-1 isoform that was found to be markedly up-regulated in exercised or damaged muscle. The specific E domain of the MGF splice variant may act as an independent growth factor. The aim of the present study was to characterize a rabbit antihuman MGF polyclonal antibody. New-Zealand rabbits were immunized by injections of a purified synthetic peptide corresponding to the last 24 amino acids of the human C-terminal of the MGF E domain. Western blotting and immunohistochemical techniques were used to characterize the specificity of the polyclonal anti-MGF antiserum. The anti-MGF antiserum was found to recognize the MGF E-peptide and not the common part of the IGF-1 isoforms, i.e. the mature IGF-1 peptide. Furthermore, it specifically bound to the MGF protein in human skeletal and in rat cardiac muscle, apparently due to the considerable homology between the human and rat MGF E-peptide sequences. Immunostaining analysis showed that this polyclonal anti-MGF antibody was able to detect MGF in human muscle and in rat cardiomyocytes and vessels' smooth muscle cells. We conclude that this rabbit polyclonal anti-human/rat MGF antibody could become a valuable tool in the study of IGF-1 isoforms in human and rat tissues.
C1 [Philippou, A.; Stavropoulou, A.; Pissimissis, N.; Halapas, A.; Koutsilieris, M.] Natl & Kapodistrian Univ Athens, Sch Med, Dept Expt Physiol, Fac Phys Educ & Sport Sci, Athens 11527, Greece.
   [Maridaki, M.] Natl & Kapodistrian Univ Athens, Fac Phys Educ & Sport Sci, Dept Sports Med & Biol Phys Activ, Athens 11527, Greece.
   [Sourla, A.] Endo Oncores Lab, Athens, Greece.
C3 National & Kapodistrian University of Athens; Athens Medical School;
   National & Kapodistrian University of Athens
RP Koutsilieris, M (corresponding author), Natl & Kapodistrian Univ Athens, Sch Med, Dept Expt Physiol, Fac Phys Educ & Sport Sci, 75 Micras Asias, Athens 11527, Greece.
EM mkoutsil@med.uoa.gr
RI Philippou, Anastassios/H-2748-2019; MARIDAKI, MARIA/AAD-8588-2019;
   Koutsilieris, Michael/AAD-3648-2019
OI Maridaki, Maria/0000-0003-3458-4633; Philippou,
   Anastassios/0000-0003-0047-3003
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NR 40
TC 30
Z9 31
U1 0
U2 2
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
   ATHENS 19014, GREECE
SN 0258-851X
EI 1791-7549
J9 IN VIVO
JI In Vivo
PD JAN-FEB
PY 2008
VL 22
IS 1
BP 27
EP 35
PG 9
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA 272EC
UT WOS:000253841300005
PM 18396778
DA 2025-04-10
ER

PT J
AU Ritter, D
   Taylor, JF
   Hoffmann, JW
   Carnaghi, L
   Giddings, SJ
   Zakeri, H
   Kwok, PY
AF Ritter, D
   Taylor, JF
   Hoffmann, JW
   Carnaghi, L
   Giddings, SJ
   Zakeri, H
   Kwok, PY
TI Alternative splicing for the α1 subunit of soluble guanylate
   cyclase
SO BIOCHEMICAL JOURNAL
LA English
DT Article
DE hypertension; nitric oxide; signalling pathway
ID NITRIC-OXIDE; MOLECULAR-CLONING; GENE-EXPRESSION; HYPERTENSION;
   INHIBITOR; RESPONSES
AB Soluble guanylate cyclase (sGC), the receptor for nitric oxide, is a heterodimer consisting of alpha and beta subunits. We investigated the mRNA species for the alpha(1) subunit in human brain, heart, artery and immortalized B-lymphocytes. Three mRNA species were identified in these tissues. The major mRNA species contained the full expression sequence of the a, subunit. Two other types of mRNA were detected in which 5' sequences were deleted by splicing (506-590 and 412-590), Each of these deletions included the predicted translation start site, indicating that translation of these two alternatively spliced RNA species does not result in the production of full-length a, subunits. The relative amounts of the two mRNA species with deletions of the translation start site differed significantly between cell lines of immortalized B-lymphocytes from different individuals. sGC enzymic activity was significantly decreased in cellular extracts from cell lines with high proportions of mRNA species containing the deletion 506-590 when compared with extracts from cell lines that contained mostly mRNA without this deletion.
C1 St Louis Univ, Sch Med, Dept Pathol, St Louis, MO 63104 USA.
   John Cochran Vet Affairs Med Ctr, St Louis, MO 63105 USA.
   Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USA.
   Washington Univ, Sch Med, Div Dermatol, St Louis, MO 63110 USA.
C3 Saint Louis University; Washington University (WUSTL); Washington
   University (WUSTL)
RP Ritter, D (corresponding author), St Louis Univ, Sch Med, Dept Pathol, St Louis, MO 63104 USA.
RI Kwok, Pui-Yan/F-7725-2014
OI Kwok, Pui-Yan/0000-0002-5087-3059
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NR 22
TC 18
Z9 20
U1 0
U2 0
PU PORTLAND PRESS
PI LONDON
PA 59 PORTLAND PLACE, LONDON W1N 3AJ, ENGLAND
SN 0264-6021
J9 BIOCHEM J
JI Biochem. J.
PD MAR 15
PY 2000
VL 346
BP 811
EP 816
DI 10.1042/0264-6021:3460811
PN 3
PG 6
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 300KX
UT WOS:000086253100032
PM 10698711
OA Green Published
DA 2025-04-10
ER

PT J
AU Lee, LA
   Broadwell, LJ
   Buvoli, M
   Leinwand, LA
AF Lee, Lindsey A.
   Broadwell, Lindsey J.
   Buvoli, Massimo
   Leinwand, Leslie A.
TI Nonproductive Splicing Prevents Expression of MYH7b Protein in the
   Mammalian Heart
SO JOURNAL OF THE AMERICAN HEART ASSOCIATION
LA English
DT Article
DE exon skipping; heart; mass spectrometry; MYH7b; RNA-seq
ID QUANTITATIVE PROTEOMICS; HOST GENE; INTRONS
AB Background Although the roles of alpha-myosin heavy chain (alpha-MyHC) and beta-myosin heavy chain (beta-MyHC) proteins in cardiac contractility have long been appreciated, the biological contribution of another closely related sarcomeric myosin family member, MYH7b (myosin heavy chain 7b), has become a matter of debate. In mammals, MYH7b mRNA is transcribed but undergoes non-productive alternative splicing that prevents protein expression in a tissue-specific manner, including in the heart. However, several studies have recently linked MYH7b variants to different cardiomyopathies or have reported MYH7b protein expression in mammalian hearts. Methods and Results By analyzing mammalian cardiac transcriptome and proteome data, we show that the vast majority of MYH7b RNA is subject to exon skipping and cannot be translated into a functional myosin molecule. Notably, we discovered a lag in the removal of introns flanking the alternatively spliced exon, which could retain the non-coding RNA in the nucleus. This process could play a significant role in controlling MYH7b expression as well as the activity of other cardiac genes. Consistent with the negligible level of full-length protein coding mRNA, no MYH7b protein expression was detected in adult mouse, rat, and human hearts by Western blot analysis. Furthermore, proteome surveys including quantitative mass spectrometry analyses revealed only traces of cardiac MYH7b protein and even then, only in a subset of individual samples. Conclusions The comprehensive analysis presented here suggests that previous studies showing cardiac MYH7b protein expression were likely attributable to antibody cross-reactivity. More importantly, our data predict that the MYH7b disease-associated variants may operate through the alternately spliced RNA itself.
C1 [Lee, Lindsey A.; Buvoli, Massimo; Leinwand, Leslie A.] Univ Colorado, Dept Mol Cellular & Dev Biol, Boulder, CO USA.
   [Lee, Lindsey A.; Broadwell, Lindsey J.; Buvoli, Massimo; Leinwand, Leslie A.] Univ Colorado, BioFrontiers Inst, 3415 Colorado Ave, Boulder, CO 80303 USA.
   [Broadwell, Lindsey J.] Univ Colorado, Dept Biochem, Boulder, CO USA.
C3 University of Colorado System; University of Colorado Boulder;
   University of Colorado System; University of Colorado Boulder;
   University of Colorado System; University of Colorado Boulder
RP Leinwand, LA (corresponding author), Univ Colorado, BioFrontiers Inst, 3415 Colorado Ave, Boulder, CO 80303 USA.
EM Leslie.Leinwand@colorado.edu
RI L, A/HZI-4043-2023
OI Lee, Lindsey/0000-0002-7082-5484; LEINWAND, LESLIE/0000-0003-1470-4810
FU National Institutes of Health [R01GM29090, 5F31DC017927--02,
   1F31HL147487--01A1]; National Heart Lung and Blood Institute
   [F31HL147487] Funding Source: NIH RePORTER; National Institute on
   Deafness and Other Communication Disorders [F31DC017927] Funding Source:
   NIH RePORTER
FX This work was supported by National Institutes of Health grant
   R01GM29090 to L. Leinwand, National Institutes of Health Fellowship
   5F31DC017927--02 to L. Lee, and National Institutes of Health Fellowship
   1F31HL147487--01A1 to L. Broadwell.
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NR 28
TC 6
Z9 7
U1 0
U2 4
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 2047-9980
J9 J AM HEART ASSOC
JI J. Am. Heart Assoc.
PD JUL 20
PY 2021
VL 10
IS 14
AR e020965
DI 10.1161/JAHA.121.020965
PG 8
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA TL1XZ
UT WOS:000674649600044
PM 34227390
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Almacellas-Barbanoj, A
   Albini, M
   Satapathy, A
   Jaudon, F
   Michetti, C
   Krawczun-Rygmaczewska, A
   Huang, HP
   Manago, F
   Papaleo, F
   Benfenati, F
   Cesca, F
AF Almacellas-Barbanoj, Amanda
   Albini, Martina
   Satapathy, Annyesha
   Jaudon, Fanny
   Michetti, Caterina
   Krawczun-Rygmaczewska, Alicja
   Huang, Huiping
   Manago, Francesca
   Papaleo, Francesco
   Benfenati, Fabio
   Cesca, Fabrizia
TI Kidins220/ARMS modulates brain morphology and anxiety-like traits in
   adult mice
SO CELL DEATH DISCOVERY
LA English
DT Article
ID NEUROTROPHIC FACTOR; SCAFFOLD PROTEIN; CONDITIONAL DELETION; SPASTIC
   PARAPLEGIA; BDNF; TRKB; RECEPTOR; HIPPOCAMPAL; INTEGRATION; ACTIVATION
AB Kinase D interacting substrate of 220 kDa (Kidins220), also known as ankyrin repeat-rich membrane spanning (ARMS), is a transmembrane scaffold protein that participates in fundamental aspects of neuronal physiology including cell survival, differentiation, and synaptic plasticity. The Kidins220 constitutive knockout line displays developmental defects in the nervous and cardiovascular systems that lead to embryonic lethality, which has so far precluded the study of this protein in the adult. Moreover, Kidins220 mRNA is tightly regulated by alternative splicing, whose impact on nervous system physiology has not yet been addressed in vivo. Here, we have asked to what extent the absence of Kidins220 splicing and the selective knockout of Kidins220 impact on adult brain homeostasis. To answer this question, we used a floxed line that expresses only the full-length, non-spliced Kidins220 mRNA, and a forebrain-specific, CaMKII-Cre driven Kidins220 conditional knockout (cKO) line. Kidins220 cKO brains are characterized by enlarged ventricles in the absence of cell death, and by deficient dendritic arborization in several cortical regions. The deletion of Kidins220 leads to behavioral changes, such as reduced anxiety-like traits linked to alterations in TrkB-BDNF signaling and sex-dependent alterations of hippocampal-dependent spatial memory. Kidins220 floxed mice present similarly enlarged brain ventricles and increased associative memory. Thus, both the absolute levels of Kidins220 expression and its splicing pattern are required for the correct brain development and related expression of behavioral phenotypes. These findings are relevant in light of the increasing evidence linking mutations in the human KIDINS220 gene to the onset of severe neurodevelopmental disorders.
C1 [Almacellas-Barbanoj, Amanda; Albini, Martina; Satapathy, Annyesha; Jaudon, Fanny; Michetti, Caterina; Krawczun-Rygmaczewska, Alicja; Benfenati, Fabio; Cesca, Fabrizia] Fdn Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, I-16132 Genoa, Italy.
   [Albini, Martina; Michetti, Caterina] Univ Genoa, Dept Expt Med, I-16132 Genoa, Italy.
   [Jaudon, Fanny; Krawczun-Rygmaczewska, Alicja; Cesca, Fabrizia] Univ Trieste, Dept Life Sci, I-34127 Trieste, Italy.
   [Huang, Huiping; Manago, Francesca; Papaleo, Francesco] Ist Italiano Tecnol, Neurosci Area, Genet Cognit Lab, Via Morego 30, I-16163 Genoa, Italy.
   [Benfenati, Fabio] IRCCS Osped Policlin San Martino, I-16132 Genoa, Italy.
   [Almacellas-Barbanoj, Amanda] UCL Queen Sq Inst Neurol, Clin & Expt Epilepsy, London, England.
C3 Istituto Italiano di Tecnologia - IIT; University of Genoa; University
   of Trieste; Istituto Italiano di Tecnologia - IIT; University of London;
   University College London
RP Cesca, F (corresponding author), Fdn Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, I-16132 Genoa, Italy.; Cesca, F (corresponding author), Univ Trieste, Dept Life Sci, I-34127 Trieste, Italy.
EM fcesca@units.it
RI Albini, Martina/HHS-5336-2022; Michetti, Caterina/JQJ-5344-2023; Jaudon,
   Fanny/AAB-8695-2022; Managò, Francesca/AAC-1815-2019; papaleo,
   francesco/JAC-6197-2023; Benfenati, Fabio/A-4865-2014
OI Papaleo, Francesco/0000-0002-6326-0657; Benfenati,
   Fabio/0000-0002-0653-8368; Cesca, Fabrizia/0000-0003-2190-6314;
   Krawczun-Rygmaczewska, Alicja/0000-0002-0100-2927; Jaudon,
   Fanny/0000-0001-7648-0977; Almacellas Barbanoj,
   Amanda/0000-0001-8816-2642; Albini, Martina/0000-0001-5671-2742
FU IRCCS Ospedale Policlinico San Martino; Italian Ministry of University
   and Research [PRIN 2017-A9MK4R]; Compagnia di San Paolo [2013.1014];
   Italian Ministry of Foreign Affairs and International Cooperation [MAECI
   EPNZ008201]
FX We acknowledge Dr. Iglesias Vacas [Instituto de Investigaciones
   Biomedicas "Alberto Sols" (CSIC-UAM) and CIBERNED (ISCIII), Madrid,
   Spain] for the kind gift of the antiKidins220 antibodies. We also
   acknowledge Drs. Mehilli, Moruzzo, and Navone for help in the
   maintenance and genotyping of the Kidins220 mouse strains; Drs. Ciancio
   and Dallorto for the administrative support. The study was supported by
   research grants from IRCCS Ospedale Policlinico San Martino (Ricerca
   Corrente and "5x1000" to FC and FB), the Italian Ministry of University
   and Research (PRIN 2017-A9MK4R to FB), Compagnia di San Paolo (grant
   #2013.1014 to FC), the Italian Ministry of Foreign Affairs and
   International Cooperation (MAECI EPNZ008201 to FB).
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NR 58
TC 5
Z9 5
U1 1
U2 5
PU SPRINGERNATURE
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON, N1 9XW, ENGLAND
EI 2058-7716
J9 CELL DEATH DISCOV
JI Cell Death Discov.
PD FEB 9
PY 2022
VL 8
IS 1
AR 58
DI 10.1038/s41420-022-00854-4
PG 13
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA YW4KE
UT WOS:000753382500001
PM 35140204
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Ludewig, AH
   Nitz, I
   Klapper, M
   Döring, F
AF Ludewig, Andreas H.
   Nitz, Inke
   Klapper, Maja
   Doering, Frank
TI Identification of a Novel Human Acyl-CoA Binding Protein Isoform with a
   Unique C-terminal Domain
SO IUBMB LIFE
LA English
DT Article
DE fatty acids; protein expression; transcriptional regulation; signaling;
   glycobiology; alternative splicing
ID INHIBITOR; ACBP; CELLS; GENE; CHOLESTEROL; RELEASE; INSULIN; LIVER; RAT
AB Seven isoforms of the multifunctional human Acyl-coenzyme A binding protein (ACBP) have been characterized so far. Through ab initio analysis of expressed sequence tag (ESTs), we identified a novel high-abundant ACBP splice variant ACBP1e encoding an ACBP isoform with a unique C-terminus of 81 amino acid residues. Bioinformatic analysis shows that this domain is evolutionary conserved and shares no significant homology with other known proteins, and its function is not known. Quantitative RT-polymerase chain reaction (PCR) revealed that ACBP1e is predominantly expressed in adipose tissue and hippocampus. Protein expression studies showed perinuclear clustering of ACBP1e. These clusters were not seen in ACBP1e mutants with an altered putative subtilisin/kexin isozyme-1 cleavage site within the C-terminus, indicating that this domain is required for proper localization of ACBP1e. Conclusively, we identified a novel ACBP isoforms with an unique C-terminal domain encoded by a high-abundant splice variant. (C) 2011 IUBMB IUBMB Life, 63(7): 547-552, 2011
C1 [Doering, Frank] Univ Kiel, Inst Human Nutr & Food Sci, Res Grp Mol Prevent, Dept Mol Prevent, D-24118 Kiel, Germany.
C3 University of Kiel
RP Döring, F (corresponding author), Univ Kiel, Inst Human Nutr & Food Sci, Res Grp Mol Prevent, Dept Mol Prevent, Heinrich Hecht Pl 10, D-24118 Kiel, Germany.
EM fdoering@molprev.uni-kiel.de
FU BMBF [AZ 01312823B]
FX This work was financially supported by the BMBF-Project "Fat and
   Metabolism-gene variation, gene regulation, and gene function" (AZ
   01312823B). We thank Y. Daniel and D. Stengel for excellent technical
   assistance.
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NR 18
TC 4
Z9 5
U1 0
U2 4
PU WILEY-BLACKWELL
PI MALDEN
PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA
SN 1521-6543
J9 IUBMB LIFE
JI IUBMB Life
PD JUL
PY 2011
VL 63
IS 7
SI SI
BP 547
EP 552
DI 10.1002/iub.471
PG 6
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 795AN
UT WOS:000292944000013
PM 21698759
OA Bronze
DA 2025-04-10
ER

PT J
AU Sferrazza, GF
   Zhang, C
   Jia, PP
   Lemanski, SL
   Athauda, G
   Stassi, A
   Halager, K
   Maier, JA
   Rueda-De-Leon, E
   Gupta, A
   Dube, S
   Huang, XP
   Prentice, HM
   Dube, DK
   Lemanski, LF
AF Sferrazza, Gian Franco
   Zhang, Chi
   Jia, Pingping
   Lemanski, Sharon L.
   Athauda, Gagani
   Stassi, Alyssa
   Halager, Kristine
   Maier, Jennifer A.
   Rueda-de-Leon, Elena
   Gupta, Amit
   Dube, Syamalima
   Huang, Xupei
   Prentice, Howard M.
   Dube, Dipak K.
   Lemanski, Larry F.
TI Role of myofibril-inducing RNA in cardiac TnT expression in developing
   Mexican axolotl
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE cardiac troponin T; axolotl; myofibril; alternative splicing
ID TROPONIN-T-GENE; AMBYSTOMA-MEXICANUM; ALPHA-TROPOMYOSIN; ADULT ISOFORMS;
   HEART; REGION
AB The Mexican axolotl, Ambystoma mexicanum, has been a useful animal model to study heart development and cardiac myofibrillogenesis. A naturally-occurring recessive mutant, gene "c", for cardiac non-function in the Mexican axolotl causes a failure of myofibrillogenesis due to a lack of tropomyosin expression in homozygous mutant (c/c) embryonic hearts. Myofibril-inducing RNA (MIR) rescues mutant hearts in vitro by promoting tropomyosin expression and myofibril formation thereafter. We have studied the effect of MIR on the expression of various isoforms of cardiac troponin T (cTnT), a component of the thin filament that binds with tropomyosin. Four alternatively spliced cTnT isoforms have been characterized from developing axolotl heart. The expression of various cTnT isoforms in normal, mutant, and mutant hearts corrected with MIR, is evaluated by real-time RT-PCR using isoform specific primer pairs; MIR affects the total transcription as well as the splicing of the cTnT in axolotl heart. (c) 2007 Elsevier Inc. All rights reserved.
C1 Florida Atlantic Univ, Dept Biomed Sci, Boca Raton, FL 33431 USA.
   SUNY Upstate Med Univ, Dept Med, Syracuse, NY 13210 USA.
C3 State University System of Florida; Florida Atlantic University; State
   University of New York (SUNY) System; State University of New York
   (SUNY) Upstate Medical Center
RP Lemanski, LF (corresponding author), Florida Atlantic Univ, Dept Biomed Sci, Boca Raton, FL 33431 USA.
EM lemanski@fau.edu
RI Huang, xp/JRX-2837-2023
FU NHLBI NIH HHS [R01 HL061246, R01 HL061246-08, HL-061246, R01
   HL061246-07, R01 HL058435-06, R01 HL058435, R01 HL061246-06A1, R01
   HL061246-04, HL-58435, R01 HL061246-03, R01 HL061246-02, R01
   HL058435-05, R01 HL058435-04, R01 HL061246-05, R01 HL061246-09] Funding
   Source: Medline
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NR 20
TC 5
Z9 5
U1 1
U2 3
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD MAY 25
PY 2007
VL 357
IS 1
BP 32
EP 37
DI 10.1016/j.bbrc.2007.03.064
PG 6
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 161PW
UT WOS:000246028800006
PM 17408593
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Bosè, F
   Renna, LV
   Fossati, B
   Arpa, G
   Labate, V
   Milani, V
   Botta, A
   Micaglio, E
   Meola, G
   Cardani, R
AF Bose, Francesca
   Renna, Laura Valentina
   Fossati, Barbara
   Arpa, Giovanni
   Labate, Valentina
   Milani, Valentina
   Botta, Annalisa
   Micaglio, Emanuele
   Meola, Giovanni
   Cardani, Rosanna
TI TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in
   Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2
SO FRONTIERS IN NEUROLOGY
LA English
DT Article
DE myotonic dystrophies; cardiac troponin T; cardiac involvement; skeletal
   muscle; alternative splicing
ID TROPONIN-T; MESSENGER-RNA; CTG REPEAT; CHLORIDE CHANNEL;
   MOLECULAR-BASIS; RECEPTOR; HEART; EXPANSION; ISOFORMS; INVOLVEMENT
AB Cardiac involvement is one of the most important manifestations of the multisystemic phenotype of patients affected by myotonic dystrophy (DM) and represents the second cause of premature death. Molecular mechanisms responsible for DM cardiac defects are still unclear; however, missplicing of the cardiac isoform of troponin T (TNNT2) and of the cardiac sodium channel (SCN5A) genes might contribute to the reduced myocardial function and conduction abnormalities seen in DM patients. Since, in DM skeletal muscle, the TNNT2 gene shows the same aberrant splicing pattern observed in cardiac muscle, the principal aim of this work was to verify if the TNNT2 aberrant fetal isoform expression could be secondary to myopathic changes or could reflect the DM cardiac phenotype. Analysis of alternative splicing of TNNT2 and of several genes involved in DM pathology has been performed on muscle biopsies from patients affected by DM type 1 (DM1) or type 2 (DM2) with or without cardiac involvement. Our analysis shows that missplicing of muscle-specific genes is higher in DM1 and DM2 than in regenerating control muscles, indicating that these missplicing could be effectively important in DM skeletal muscle pathology. When considering the TNNT2 gene, missplicing appears to be more evident in DM1 than in DM2 muscles since, in DM2, the TNNT2 fetal isoform appears to be less expressed than the adult isoform. This evidence does not seem to be related to less severe muscle histopathological alterations that appear to be similar in DM1 and DM2 muscles. These results seem to indicate that the more severe TNNT2 missplicing observed in DM1 could not be related only to myopathic changes but could reflect the more severe general phenotype compared to DM2, including cardiac problems that appear to be more severe and frequent in DM1 than in DM2 patients. Moreover, TNNT2 missplicing significantly correlates with the QRS cardiac parameter in DM1 but not in DM2 patients, indicating that this splicing event has good potential to function as a biomarker of DM1 severity and it should be considered in pharmacological clinical trials to monitor the possible effects of different therapeutic approaches on skeletal muscle tissues.
C1 [Bose, Francesca; Renna, Laura Valentina; Cardani, Rosanna] IRCCS Policlin San Donato, Lab Muscle Histopathol & Mol Biol, Milan, Italy.
   [Fossati, Barbara; Meola, Giovanni] IRCCS Policlin San Donato, Dept Neurol, Milan, Italy.
   [Fossati, Barbara] CCP, Dept Neurorehabil Sci, Milan, Italy.
   [Arpa, Giovanni; Meola, Giovanni] Univ Milan, Dept Biomed Sci Hlth, Milan, Italy.
   [Labate, Valentina] IRCCS Policlin San Donato, Univ Cardiol Unit, Milan, Italy.
   [Milani, Valentina] IRCCS Policlin San Donato, Sci Directorate, Milan, Italy.
   [Botta, Annalisa] Univ Roma Tor Vergata, Dept Biomed & Prevent, Rome, Italy.
   [Micaglio, Emanuele] IRCCS Policlin San Donato, Dept Arrhythmol, Milan, Italy.
C3 IRCCS Policlinico San Donato; IRCCS Policlinico San Donato; University
   of Milan; IRCCS Policlinico San Donato; IRCCS Policlinico San Donato;
   University of Rome Tor Vergata; IRCCS Policlinico San Donato
RP Cardani, R (corresponding author), IRCCS Policlin San Donato, Lab Muscle Histopathol & Mol Biol, Milan, Italy.
EM rosanna.cardani@grupposandonato.it
RI Milani, Valentina/AAB-5367-2019; botta, annalisa/AAB-8680-2019; cardani,
   rosanna/ABH-6525-2020; Renna, Laura/ABH-7699-2020; Micaglio,
   Emanuele/AAC-2953-2019; meola, giovanni/K-4775-2016
OI meola, giovanni/0000-0001-6396-717X; Milani,
   Valentina/0000-0002-2989-981X; cardani, rosanna/0000-0001-8858-4327;
   Bose', Francesca/0000-0003-3898-1572; Renna, Laura
   Valentina/0000-0003-1316-7478; BOTTA, ANNALISA/0000-0003-4031-5624;
   Arpa, Giovanni/0000-0001-7226-381X; Micaglio,
   Emanuele/0000-0002-8298-7800
FU FMM-Fondazione Malattie Miotoniche; Ricerca Corrente from the Italian
   Ministry of Health; Italian Ministry of Health [RF-2010-2314711]
FX This study was supported by FMM-Fondazione Malattie Miotoniche. This
   study was partially supported by Ricerca Corrente funding from the
   Italian Ministry of Health to IRCCSPoliclinico San Donato. The Italian
   Registry for Myotonic Dystrophy Type 1 and Type 2 was funded by the
   Italian Ministry of Health (RF-2010-2314711). The funders had no role in
   study design, data collection, and analysis, decision to publish, or
   preparation of the manuscript.
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NR 59
TC 10
Z9 10
U1 1
U2 1
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-2295
J9 FRONT NEUROL
JI Front. Neurol.
PD SEP 27
PY 2019
VL 10
AR 992
DI 10.3389/fneur.2019.00992
PG 16
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA JA7XE
UT WOS:000488060800001
PM 31611837
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Famà, R
   Borroni, E
   Zanolini, D
   Merlin, S
   Bruscaggin, V
   Walker, GE
   Olgasi, C
   Babu, D
   Giacchello, JA
   Valeri, F
   Giordano, M
   Borchiellini, A
   Follenzi, A
AF Fama, Rosella
   Borroni, Ester
   Zanolini, Diego
   Merlin, Simone
   Bruscaggin, Valentina
   Walker, Gillian E.
   Olgasi, Cristina
   Babu, Deepak
   Giacchello, Jacopo Agnelli
   Valeri, Federica
   Giordano, Mara
   Borchiellini, Alessandra
   Follenzi, Antonia
TI Identification and functional characterization of a novel splicing
   variant in the F8 coagulation gene causing severe hemophilia A
SO JOURNAL OF THROMBOSIS AND HAEMOSTASIS
LA English
DT Article
DE alternative splicing; hemophilia A; premature stop codon; protein
   isoforms; synonymous mutation
ID FACTOR-VIII GENE; IMMUNE TOLERANCE INDUCTION; C2 DOMAIN; INHIBITOR
   DEVELOPMENT; MESSENGER-RNA; MUTATION TYPE; BINDING-SITE; RISK;
   MUTAGENESIS; INVERSIONS
AB Background We have identified a synonymous F8 variation in a severe hemophilia A (HA) patient who developed inhibitors following factor VIII (FVIII) prophylaxis. The unreported c.6273 G > A variant targets the consensus splicing site of exon 21.
   Objectives To determine the impact of c.6273 G > A nucleotide substitution on F8 splicing and its translated protein.
   Methods Patient peripheral blood mononuclear cells were isolated and differentiated into monocyte-derived macrophages (MDMs). FVIII distribution in cell compartments was evaluated by immunofluorescence. The splicing of mutated exon 21 was assessed by exon trapping. Identified FVIII splicing variants were generated by site-directed mutagenesis, inserted into a lentiviral vector (LV) to transduce Chinese hamster ovary (CHO) cells, and inject into B6/129 HA-mice. FVIII activity was assessed by activated partial thromboplastin time, whereas anti-FVIII antibodies and FVIII antigen, by ELISA.
   Results HA-MDMs demonstrated a predominant retention of FVIII around the endoplasmic reticulum. Exon trapping revealed the production of two isoforms: one retaining part of intron 21 and the other skipping exon 21. These variants, predicted to truncate FVIII in the C1 domain, were detected in the patient. CHO cells transduced with the two FVIII transcripts confirmed protein retention and absence of the C2 domain. HA mice injected with LV carrying FVIII mutants, partially recovered FVIII activity without the appearance of anti-FVIII antibodies.
   Conclusions Herein, we demonstrate the aberrant impact of a FVIII synonymous mutation on its transcription, activity, and pathological outcomes. Our data underline the importance of increasing the knowledge regarding the functional consequences of F8 mutations and their link to inhibitor development and an effective replacement therapy.
C1 [Fama, Rosella; Borroni, Ester; Zanolini, Diego; Merlin, Simone; Bruscaggin, Valentina; Walker, Gillian E.; Olgasi, Cristina; Babu, Deepak; Giordano, Mara; Follenzi, Antonia] Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy.
   [Giacchello, Jacopo Agnelli; Valeri, Federica; Borchiellini, Alessandra] Citta Salute & Sci, Hemostasis & Thrombosis Unit, Turin, Italy.
C3 University of Eastern Piedmont Amedeo Avogadro; A.O.U. Citta della
   Salute e della Scienza di Torino
RP Follenzi, A (corresponding author), Univ Piemonte Orientale, Dept Hlth Sci, Via Paolo Solaroli 17, I-28100 Novara, Italy.
EM antonia.follenzi@med.uniupo.it
RI GIORDANO, Mara/AAB-1379-2019; olgasi, cristina/J-2934-2018
OI olgasi, cristina/0000-0002-5738-213X; Follenzi,
   Antonia/0000-0001-9780-300X; Borroni, Ester/0000-0003-1238-1720; Merlin,
   Simone/0000-0001-5209-3921
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NR 53
TC 2
Z9 2
U1 0
U2 7
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1538-7933
EI 1538-7836
J9 J THROMB HAEMOST
JI J. Thromb. Haemost.
PD MAY
PY 2020
VL 18
IS 5
BP 1050
EP 1064
DI 10.1111/jth.14779
PG 15
WC Hematology; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology; Cardiovascular System & Cardiology
GA LI2ER
UT WOS:000529296200008
PM 32078252
DA 2025-04-10
ER

PT J
AU Schönauer, R
   Seidel, A
   Grohmann, M
   Lindner, TH
   Bergmann, C
   Halbritter, J
AF Schoenauer, Ria
   Seidel, Anna
   Grohmann, Maik
   Lindner, Tom H.
   Bergmann, Carsten
   Halbritter, Jan
TI Deleterious Impact of a Novel CFH Splice Site Variant in Atypical
   Hemolytic Uremic Syndrome
SO FRONTIERS IN GENETICS
LA English
DT Article
DE complement factor H; atypical hemolytic uremic syndrome; splice site
   variant; short consensus repeat 18; eculizumab; CFH; aHUS
ID COMPLEMENT FACTOR-H; ALTERNATIVE PATHWAY; PROTEINS; ECULIZUMAB;
   ACTIVATION; GENETICS
AB Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disorder characterized by microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury (AKI). In about 50% of cases, pathogenic variants in genes involved in the innate immune response including complement factors complement factor H (CFH), CFI, CFB, C3, and membrane co-factor protein (MCP/CD46) put patients at risk for uncontrolled activation of the alternative complement pathway. As aHUS is characterized by incomplete penetrance and presence of additional triggers for disease manifestation, genetic variant interpretation is challenging and streamlined functional variant evaluation is urgently needed. Here, we report the case of a 27-year-old female without previous medical and family history who presented with confusion, petechial bleeding, and anuric AKI. Kidney biopsy revealed glomerular thrombotic microangiopathy (TMA). Targeted next generation sequencing identified a paternally transmitted novel heterozygous splice site variant in the CFH gene [c.3134-2A> G; p.Asp1045_Thr1053del] which resulted in a partial in-frame deletion of exon 20 transcript as determined by cDNA analysis. On the protein level, the concomitant loss of 9 amino acids in the short consensus repeat (SCR) domains 17 and 18 of CFH includes a highly conserved cysteine residue, which is assumed to be essential for proper structural folding and protein function. Treatment with steroids, plasmapheresis, and the complement inhibitor eculizumab led to complete hematological and clinical remission after several months and stable renal function up to 6 years later. In conclusion, genetic investigation for pathogenic variants and evaluation of their functional impact, in particular in the case of splice site variants, is clinically relevant and enables not only better molecular understanding but helps to guide therapy with complement inhibitors.
C1 [Schoenauer, Ria; Seidel, Anna; Lindner, Tom H.; Halbritter, Jan] Univ Hosp Leipzig, Div Nephrol, Leipzig, Germany.
   [Grohmann, Maik; Bergmann, Carsten] Bioscientia, Ctr Human Genet, Ingelheim, Germany.
C3 Leipzig University
RP Halbritter, J (corresponding author), Univ Hosp Leipzig, Div Nephrol, Leipzig, Germany.
EM Jan.Halbritter@medizin.uni-leipzig.de
RI Halbritter, Jan/LTE-5542-2024
OI Schonauer, Ria/0000-0001-7609-3061; Halbritter, Jan/0000-0002-1377-9880
FU DFG [HA 6908/2-1]; EKFS
FX JH received funding from DFG (HA 6908/2-1) and EKFS.
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NR 19
TC 3
Z9 3
U1 0
U2 1
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-8021
J9 FRONT GENET
JI Front. Genet.
PD MAY 15
PY 2019
VL 10
AR 465
DI 10.3389/fgene.2019.00465
PG 6
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA HY2YZ
UT WOS:000467991200001
PM 31156713
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Michel, LYM
   Verkaart, S
   Koopman, WJH
   Willems, PHGM
   Hoenderop, JGJ
   Bindels, RJM
AF Michel, Lauriane Y. M.
   Verkaart, Sjoerd
   Koopman, Werner J. H.
   Willems, Peter H. G. M.
   Hoenderop, Joost G. J.
   Bindels, Rene J. M.
TI Function and Regulation of the Na <SUP>+</SUP> -Ca<SUP>2+</SUP>
   Exchanger NCX3 Splice Variants in Brain and Skeletal Muscle
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
DE Alternative Splicing; Calcium Transport; Endoplasmic Reticulum (ER);
   Excitotoxicity; Plasma Membrane; Sodium Calcium Exchange; Forward Mode;
   Muscle Fatigue; NCX; Reverse Mode
ID EPITHELIAL CA2+ CHANNEL; CARDIAC NA+-CA2+ EXCHANGER; SODIUM-CALCIUM
   EXCHANGE; NA+/CA2+ EXCHANGER; SODIUM/CALCIUM EXCHANGER; VENTRICULAR
   MYOCYTES; CA2+-BINDING DOMAIN; MUTATIONAL ANALYSIS; EXTRACELLULAR CA2+;
   SMOOTH-MUSCLE
AB Background: The Na+-Ca2+ exchanger isoform 3 (NCX3) participates in maintaining calcium homeostasis in brain and skeletal muscle. Results: The two splice variants of NCX3 have distinct regulation and capacity of exchange. Conclusion: Distinct calcium uptake capacity of muscle NCX3 suggests a novel function in muscle exercise physiology. Significance: This study brings a new understanding of the role of NCX3 variants in excitable tissues.
   Isoform 3 of the Na+-Ca2+ exchanger (NCX3) is crucial for maintaining intracellular calcium ([Ca2+](i)) homeostasis in excitable tissues. In this sense NCX3 plays a key role in neuronal excitotoxicity and Ca2+ extrusion during skeletal muscle relaxation. Alternative splicing generates two variants (NCX3-AC and NCX3-B). Here, we demonstrated that NCX3 variants display a tissue-specific distribution in mice, with NCX3-B as mostly expressed in brain and NCX-AC as predominant in skeletal muscle. Using Fura-2-based Ca2+ imaging, we measured the capacity and regulation of the two variants during Ca2+ extrusion and uptake in different conditions. Functional studies revealed that, although both variants are activated by intracellular sodium ([Na+](i)), NCX3-AC has a higher [Na+](i) sensitivity, as Ca2+ influx is observed in the presence of extracellular Na+. This effect could be partially mimicked for NCX3-B by mutating several glutamate residues in its cytoplasmic loop. In addition, NCX3-AC displayed a higher capacity of both Ca2+ extrusion and uptake compared with NCX3-B, together with an increased sensitivity to intracellular Ca2+. Strikingly, substitution of Glu(580) in NCX3-B with its NCX3-AC equivalent Lys(580) recapitulated the functional properties of NCX3-AC regarding Ca2+ sensitivity, Lys(580) presumably acting through a structure stabilization of the Ca2+ binding site. The higher Ca2+ uptake capacity of NCX3-AC compared with NCX3-B is in line with the necessity to restore Ca2+ levels in the sarcoplasmic reticulum during prolonged exercise. The latter result, consistent with the high expression in the slow-twitch muscle, suggests that this variant may contribute to the Ca2+ handling beyond that of extruding Ca2+.
C1 [Michel, Lauriane Y. M.; Verkaart, Sjoerd; Hoenderop, Joost G. J.; Bindels, Rene J. M.] Radboud Univ Nijmegen, Dept Physiol, Med Ctr, NL-6500 HB Nijmegen, Netherlands.
   [Koopman, Werner J. H.; Willems, Peter H. G. M.] Radboud Univ Nijmegen, Dept Biochem, Med Ctr, NL-6500 HB Nijmegen, Netherlands.
   [Michel, Lauriane Y. M.; Koopman, Werner J. H.; Willems, Peter H. G. M.; Bindels, Rene J. M.] Radboud Univ Nijmegen, Ctr Syst Biol & Bioenerget, Med Ctr, NL-6500 HB Nijmegen, Netherlands.
C3 Radboud University Nijmegen; Radboud University Nijmegen; Radboud
   University Nijmegen
RP Bindels, RJM (corresponding author), Radboud Univ Nijmegen, Dept Physiol, Med Ctr, POB 9101, NL-6500 HB Nijmegen, Netherlands.
EM Rene.Bindels@radboudumc.nl
RI Koopman, Werner/AAC-9668-2020; Michel, Lauriane/GPP-1185-2022; Bindels,
   René/B-9824-2013; Hoenderop, Joost/H-8047-2014; Willems, Peter
   H.G.M./L-4759-2015
OI Willems, Peter H.G.M./0000-0002-0915-1599; Koopman, Werner
   J.H./0000-0002-5340-6747; Michel, Lauriane Y.M./0000-0001-6733-3510
FU Netherlands Organization for Scientific Research [911-02-008,
   CSBR09/013V]
FX This work was supported by Equipment Grant 911-02-008 from Netherlands
   Organization for Scientific Research and the Centre for Systems Biology
   Research Initiative Grant CSBR09/013V from the Netherlands Organization
   for Scientific Research.
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NR 51
TC 32
Z9 37
U1 0
U2 3
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD APR 18
PY 2014
VL 289
IS 16
BP 11293
EP 11303
DI 10.1074/jbc.M113.529388
PG 11
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA AF3UT
UT WOS:000334638500032
PM 24616101
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Ohya, S
   Kito, H
   Hatano, N
   Muraki, K
AF Ohya, Susumu
   Kito, Hiroaki
   Hatano, Noriyuki
   Muraki, Katsuhiko
TI Recent advances in therapeutic strategies that focus on the regulation
   of ion channel expression
SO PHARMACOLOGY & THERAPEUTICS
LA English
DT Review
DE Ca2+ channel; K+ channel; Ca2+-activated Cl- channel; Transcription;
   Pre-mRNA splicing; Protein degradation
ID CA2+-ACTIVATED K+ CHANNELS; NF-KAPPA-B; NECROSIS-FACTOR-ALPHA;
   HYPOXIA-INDUCIBLE FACTOR-1-ALPHA; ACTIVATED POTASSIUM CHANNEL;
   CELL-SURFACE EXPRESSION; PROTEIN-KINASE-C; RECEPTOR POTENTIAL CHANNELS;
   LONG NONCODING RNA; ALTERNATIVE TRANSLATION INITIATION
AB A number of different ion channel types are involved in cell signaling networks, and homeostatic regulatory mechanisms contribute to the control of ion channel expression. Profiling of global gene expression using micro array technology has recently provided novel insights into the molecular mechanisms underlying the homeostatic and pathological control of ion channel expression. It has demonstrated that the dysregulation of ion channel expression is associated with the pathogenesis of neural, cardiovascular, and immune diseases as well as cancers. In addition to the transcriptional, translational, and post-translational regulation of ion channels, potentially important evidence on the mechanisms controlling ion channel expression has recently been accumulated. The regulation of alternative pre-mRNA splicing is therefore a novel therapeutic strategy for the treatment of dominant negative splicing disorders. Epigenetic modification plays a key role in various pathological conditions through the regulation of pluripotency genes. Inhibitors of pre-mRNA splicing and histone deacetyalase/methyltransferase have potential as potent therapeutic drugs for cancers and autoimmune and inflammatory diseases. Moreover, membrane-anchoring proteins, lysosomal and proteasomal degradation-related molecules, auxiliary subunits, and pharmacological agents alter the protein folding, membrane trafficking, and post-translational modifications of ion channels, and are linked to expression-defect channelopathies. In this review, we focused on recent insights into the transcriptional, spliceosomal, epigenetic, and proteasomal regulation of ion channel expression: Ca2+ channels (TRPC/TRPV/TRPM/TRPA/Orai), K+ channels (voltage-gated, K-V/Ca2+-activated, K-Ca/two-pore domain, K-2P/inward-rectifier, K-ir), and Ca2+-activated Cl- channels (TMEM16A/TMEM169). Furthermore, this review highlights expression of these ion channels in expression-defect channelopathies. (C) 2016 Elsevier Inc. All rights reserved.
C1 [Ohya, Susumu; Kito, Hiroaki] Kyoto Pharmaceut Univ, Div Pathol Sci, Dept Pharmacol, Kyoto 6078414, Japan.
   [Hatano, Noriyuki; Muraki, Katsuhiko] Aichi Gakuin Univ, Sch Pharm, Lab Cellular Pharmacol, Nagoya, Aichi 4648650, Japan.
C3 Kyoto Pharmaceutical University; Aichi Gakuin University
RP Ohya, S (corresponding author), Kyoto Pharmaceut Univ, Div Pathol Sci, Dept Pharmacol, Kyoto 6078414, Japan.; Muraki, K (corresponding author), Aichi Gakuin Univ, Sch Pharm, Lab Cellular Pharmacol, Nagoya, Aichi 4648650, Japan.
EM sohya@mb.kyoto-phu.ac.jp; kmuraki@dpc.agu.ac.jp
RI Ohya, Susumu/AAB-3618-2020
FU Promotion and Mutual Aid Cooperation for Private School of Japan (Kyoto
   Pharmaceutical Univ.); Promotion and Mutual Aid Cooperation for Private
   School of Japan (Aichi-Gakuin Univ.); Grants-in-Aid for Scientific
   Research [25460111] Funding Source: KAKEN
FX This work was supported by a research grant from the Promotion and
   Mutual Aid Cooperation for Private Schools of Japan (Kyoto
   Pharmaceutical Univ. and Aichi-Gakuin Univ.).
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NR 550
TC 39
Z9 41
U1 0
U2 60
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0163-7258
J9 PHARMACOL THERAPEUT
JI Pharmacol. Ther.
PD APR
PY 2016
VL 160
BP 11
EP 43
DI 10.1016/j.pharmthera.2016.02.001
PG 33
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA DJ6ZT
UT WOS:000374362400002
PM 26896566
DA 2025-04-10
ER

PT J
AU Gong, QM
   Stump, MR
   Deng, V
   Zhang, L
   Zhou, ZF
AF Gong, Qiuming
   Stump, Matthew R.
   Deng, Vivianne
   Zhang, Li
   Zhou, Zhengfeng
TI Identification of Kv11.1 Isoform Switch as a Novel Pathogenic Mechanism
   of Long-QT Syndrome
SO CIRCULATION-CARDIOVASCULAR GENETICS
LA English
DT Article
DE long QT syndrome; potassium channels
ID MESSENGER-RNA DECAY; POTASSIUM CHANNEL; K+-CHANNEL; CARDIAC-ARRHYTHMIA;
   NONSENSE MUTATIONS; HERG CHANNELS; POLYADENYLATION; TRAFFICKING;
   EXPRESSION; RECTIFIER
AB Background-The KCNH2 gene encodes the Kv11.1 potassium channel that conducts the rapidly activating delayed rectifier current in the heart. The relative expression of the full-length Kv11.1a isoform and the C-terminally truncated Kv11.1a-USO isoform plays an important role in regulation of channel function. The formation of C-terminal isoforms is determined by competition between the splicing and alternative polyadenylation of KCNH2 intron 9. It is not known whether changes in the relative expression of Kv11.1a and Kv11.1a-USO can cause long-QT syndrome.
   Methods and Results-We identified a novel KCNH2 splice site mutation in a large family. The mutation, IVS9-2delA, is a deletion of the A in the AG dinucleotide of the 3' acceptor site of intron 9. We designed an intron-containing full-length KCNH2 gene construct to study the effects of the mutation on the relative expression of Kv11.1a and Kv11.1a-USO at the mRNA, protein, and functional levels. We found that this mutation disrupted normal splicing and resulted in exclusive polyadenylation of intron 9, leading to a switch from the functional Kv11.1a to the nonfunctional Kv11.1a-USO isoform in HEK293 cells and HL-1 cardiomyocytes. We also showed that IVS9-2delA caused isoform switch in the mutant allele of mRNA isolated from patient lymphocytes.
   Conclusions-Our findings indicate that the IVS9-2delA mutation causes a switch in the expression of the functional Kv11.1a isoform to the nonfunctional Kv11.1a-USO isoform. Kv11.1 isoform switch represents a novel mechanism in the pathogenesis of long-QT syndrome.
C1 [Gong, Qiuming; Stump, Matthew R.; Deng, Vivianne; Zhou, Zhengfeng] Oregon Hlth & Sci Univ, Knight Cardiovasc Inst, Portland, OR 97239 USA.
   [Zhang, Li] Thomas Jefferson Univ, Jefferson Med Coll, Lankenau Inst Med Res, Philadelphia, PA 19107 USA.
   [Zhang, Li] Thomas Jefferson Univ, Jefferson Med Coll, Lankenau Med Ctr, Philadelphia, PA 19107 USA.
C3 Oregon Health & Science University; Thomas Jefferson University;
   Lankenau Medical Center; Lankenau Institute for Medical Research; Thomas
   Jefferson University; Lankenau Medical Center
RP Zhou, ZF (corresponding author), Oregon Hlth & Sci Univ, Knight Cardiovasc Inst, 3181 SW Sam Jackson Pk Rd, Portland, OR 97239 USA.
EM zhouzh@ohsu.edu
FU National Institutes of Health (NIH) [HL68854]; Oregon Clinical and
   Translational Research Institute (OCTRI) from the National Center for
   Research Resources (NCRR) [UL1RR024140]; NIH; OCTRI from NCRR [UL1
   RR024140]; MJ Murdock Charitable Trust; Center for Health Research and
   Kaiser Permanente Northwest; NIH [T32HL094294]
FX This study was supported, in part, by National Institutes of Health
   (NIH) grant HL68854 (to Dr Zhou) and the Oregon Clinical and
   Translational Research Institute (OCTRI), grant number UL1RR024140 from
   the National Center for Research Resources (NCRR), a component of NIH,
   and NIH Roadmap for Medical Research. Contribution of control DNA
   samples from the Kaiser Permanente Northwest Biobank was made possible
   with support from the OCTRI, grant number UL1 RR024140 from NCRR; the MJ
   Murdock Charitable Trust; and institutional support from the Center for
   Health Research and Kaiser Permanente Northwest. Dr Stump is supported
   by NIH training grant T32HL094294.
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NR 35
TC 7
Z9 11
U1 0
U2 4
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 1942-325X
EI 1942-3268
J9 CIRC-CARDIOVASC GENE
JI Circ.-Cardiovasc. Genet.
PD AUG
PY 2014
VL 7
IS 4
BP 482
EP U258
DI 10.1161/CIRCGENETICS.114.000586
PG 14
WC Cardiac & Cardiovascular Systems; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Genetics & Heredity
GA AO2ZN
UT WOS:000341197700011
PM 25028483
OA Green Accepted, Bronze
DA 2025-04-10
ER

PT J
AU Strehler, EE
   Treiman, M
AF Strehler, EE
   Treiman, M
TI Calcium pumps of plasma membrane and cell interior
SO CURRENT MOLECULAR MEDICINE
LA English
DT Review
ID CALMODULIN-BINDING DOMAIN; SARCO/ENDOPLASMIC-RETICULUM CA2+-ATPASE;
   PROTEIN-KINASE-C; MUSCLE SARCOPLASMIC-RETICULUM; MESSENGER-RNA
   EXPRESSION; ADENOVIRAL GENE-TRANSFER; RAT SENSORY NEURONS; CA2+ PUMP;
   ENDOPLASMIC-RETICULUM; CA-2+ PUMP
AB Calcium entering the cell from the outside or from intracellular organelles eventually must be returned to the extracellular milieu or to intracellular storage organelles. The two major systems capable of pumping Ca2+ against its large concentration gradient out of the cell or into the sarco/endoplasmatic reticulum are the plasma membrane Ca2+ ATPases (PMCAs) and the sarco/endoplasmic reticulum Ca2+ ATPases (SERCAs), respectively. In mammals, multigene families code for these Ca2+ pumps and additional isoform subtypes are generated via alternative splicing. PMCA and SERCA isoforms show developmental-, tissue- and cell type-specific patterns of expression. Different PMCA and SERCA isoforms are characterized by different regulatory and kinetic properties that likely are optimized for the distinct functional tasks fulfilled by each pump in setting resting cytosolic or intra-organellar Ca2+ levels, and in shaping intracellular Ca2+ signals with spatial and temporal resolution. The loss or malfunction of specific Ca2+ pump isoforms is associated with defects such as deafness, ataxia or heart failure. Understanding the involvement of different Ca2+ pump isoforms in the pathogenesis of disease allows their identification as therapeutic targets for the development of selective strategies to prevent or combat the progression of these disorders.
C1 Mayo Clin, Coll Med, Dept Biochem & Mol Biol, Rochester, MN USA.
   Univ Copenhagen, Dept Med Physiol, Copenhagen, Denmark.
   CHARC, Copenhagen, Denmark.
C3 Mayo Clinic; University of Copenhagen
RP Panum Inst, Dept Med Physiol, 12 5 Blegdamsvej 3, DK-2200 Copenhagen, Denmark.
EM M.Treiman@mfi.ku.dk
OI Strehler, Emanuel/0000-0001-5998-7055
FU NIDCD NIH HHS [DC-04200] Funding Source: Medline; NIGMS NIH HHS
   [GM-58710] Funding Source: Medline
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NR 163
TC 135
Z9 162
U1 0
U2 23
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
   EMIRATES
SN 1566-5240
EI 1875-5666
J9 CURR MOL MED
JI Curr. Mol. Med.
PD MAY
PY 2004
VL 4
IS 3
BP 323
EP 335
DI 10.2174/1566524043360735
PG 13
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA 811ZT
UT WOS:000220810500010
PM 15101689
DA 2025-04-10
ER

PT J
AU Messner, M
   Ghadge, SK
   Maurer, T
   Graber, M
   Staggl, S
   Maier, SC
   Pölzl, G
   Zaruba, MM
AF Messner, Moritz
   Ghadge, Santhosh Kumar
   Maurer, Thomas
   Graber, Michael
   Staggl, Simon
   Christine Maier, Sarah
   Poelzl, Gerhard
   Zaruba, Marc-Michael
TI ZMPSTE24 Is Associated with Elevated Inflammation and Progerin mRNA
SO CELLS
LA English
DT Article
DE ZMPSTE24; lamin A; C; progerin; aging; inflammation
ID OBESITY; DEFECTS
AB Lamins are important filaments forming the inner nuclear membrane. Lamin A is processed by zinc metalloproteinase (ZMPSTE24). Failure to cleave a truncated form of prelamin A-also called progerin-causes Hutchinson-Gilford progeria syndrome a well-known premature aging disease. Minor levels of progerin are readily expressed in the blood of healthy individuals due to alternative splicing. Previously, we found an association of increased progerin mRNA with overweight and chronic inflammation (hs-CRP). Here, we aimed to elucidate correlations of ZMPSTE24, lamin A/C and progerin with the inflammatory marker hs-CRP. In this retrospective, cross-sectional study we analyzed blood samples from 110 heart failure patients for quantitative mRNA expression of ZMPSTE24, lamin A/C, progerin and hs-CRP protein. Spearman correlations and linear regression analyses including adjustments for age, gender and ejection fraction showed a significant positive correlation of lnprogerin with lnZMPSTE24 (n = 110; r = 0.33;p= 0.0004) and lnlamin A/C (n = 110; r = 0.82,p< 0.0001), whereas no association was observed between lnlamin A/C and lnZMPSTE24 expression. Further analyses showed a significant positive correlation of lnhs-CRP with lnZMPSTE24 (n = 110; r = 0.21;p= 0.01) and lnlamin A/C (n = 110; r = 0.24;p= 0.03). We conclude that chronic inflammation is associated with increased expression of ZMPSTE24 and lamin A/C mRNA. Both markers also positively correlate with increased expression of the premature aging marker progerin which may be linked to cardiovascular aging.
C1 [Messner, Moritz; Ghadge, Santhosh Kumar; Maurer, Thomas; Staggl, Simon; Poelzl, Gerhard; Zaruba, Marc-Michael] Med Univ Innsbruck, Dept Internal Med Cardiol & Angiol 3, A-6020 Innsbruck, Austria.
   [Graber, Michael] Med Univ Innsbruck, Dept Thorac & Cardiac Surg, A-6020 Innsbruck, Austria.
   [Christine Maier, Sarah] Med Univ Innsbruck, Dept Med Stat Informat & Hlth Econ, A-6020 Innsbruck, Austria.
C3 Medical University of Innsbruck; Medical University of Innsbruck;
   Medical University of Innsbruck
RP Zaruba, MM (corresponding author), Med Univ Innsbruck, Dept Internal Med Cardiol & Angiol 3, A-6020 Innsbruck, Austria.
EM moritz.messner@i-med.ac.at; santhosh.ghadge@i-med.ac.at;
   thomas.maurer@i-med.ac.at; michael.graber@i-med.ac.at;
   simon.staggl@i-med.ac.at; sarah.maier@i-med.ac.at;
   gerhard.poelzl@i-med.ac.at; marc-michael.zaruba@i-med.ac.at
RI Zaruba, Marc-Michael/AAI-8571-2020; Messner, Moritz/IZE-4170-2023
OI Zaruba, Marc-Michael/0000-0003-1074-5463; Messner,
   Moritz/0000-0003-3250-4353
CR Brayson D, 2019, JCI INSIGHT, V4, DOI 10.1172/jci.insight.126315
   Clark KM, 2017, PROTEIN SCI, V26, P242, DOI 10.1002/pro.3074
   Davies BSJ, 2009, ANNU REV GENOM HUM G, V10, P153, DOI 10.1146/annurev-genom-082908-150150
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   Gonzalo S, 2017, AGEING RES REV, V33, P18, DOI 10.1016/j.arr.2016.06.007
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NR 21
TC 5
Z9 5
U1 0
U2 1
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2073-4409
J9 CELLS-BASEL
JI Cells
PD SEP
PY 2020
VL 9
IS 9
AR 1981
DI 10.3390/cells9091981
PG 10
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA OD6PZ
UT WOS:000579974700001
PM 32872320
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Mirtschink, P
   Krishnan, J
   Grimm, F
   Sarre, A
   Hörl, M
   Kayikci, M
   Fankhauser, N
   Christinat, Y
   Cortijo, C
   Feehan, O
   Vukolic, A
   Sossalla, S
   Stehr, SN
   Ule, J
   Zamboni, N
   Pedrazzini, T
   Krek, W
AF Mirtschink, Peter
   Krishnan, Jaya
   Grimm, Fiona
   Sarre, Alexandre
   Hoerl, Manuel
   Kayikci, Melis
   Fankhauser, Niklaus
   Christinat, Yann
   Cortijo, Cedric
   Feehan, Owen
   Vukolic, Ana
   Sossalla, Samuel
   Stehr, Sebastian N.
   Ule, Jernej
   Zamboni, Nicola
   Pedrazzini, Thierry
   Krek, Wilhelm
TI HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart
   disease
SO NATURE
LA English
DT Article
ID CARDIAC-HYPERTROPHY; MASS-SPECTROMETRY; MESSENGER-RNA; CELLS; FAILURE;
   PATHWAY; KETOHEXOKINASE; EXPRESSION; MICE; QUANTIFICATION
AB Fructose is a major component of dietary sugar and its overconsumption exacerbates key pathological features of metabolic syndrome. The central fructose-metabolising enzyme is ketohexokinase (KHK), which exists in two isoforms: KHK-A and KHK-C, generated through mutually exclusive alternative splicing of KHK pre-mRNAs. KHK-C displays superior affinity for fructose compared with KHK-A and is produced primarily in the liver, thus restricting fructose metabolism almost exclusively to this organ. Here we show that myocardial hypoxia actuates fructose metabolism in human and mouse models of pathological cardiac hypertrophy through hypoxia-inducible factor 1 alpha (HIF1 alpha) activation of SF3B1 and SF3B1-mediated splice switching of KHK-A to KHK-C. Heart-specific depletion of SF3B1 orgenetic ablation of Khk, but not Khk-A alone, in mice, suppresses pathological stress-induced fructose metabolism, growth and contractile dysfunction, thus defining signalling components and molecular underpinnings of a fructose metabolism regulatory system crucial for pathological growth.
C1 [Mirtschink, Peter; Krishnan, Jaya; Grimm, Fiona; Fankhauser, Niklaus; Christinat, Yann; Cortijo, Cedric; Feehan, Owen; Vukolic, Ana; Krek, Wilhelm] ETH, Inst Mol Hlth Sci, CH-8093 Zurich, Switzerland.
   [Sarre, Alexandre; Pedrazzini, Thierry] Univ Lausanne, Dept Med, CH-1011 Lausanne, Switzerland.
   [Hoerl, Manuel; Zamboni, Nicola] ETH, Inst Mol Syst Biol, CH-8093 Zurich, Switzerland.
   [Kayikci, Melis; Ule, Jernej] MRC Lab Mol Biol, Cambridge CB2 0QH, England.
   [Sossalla, Samuel] Univ Med Gottingen, Klin Kardiol & Pneumol, D-37075 Gottingen, Germany.
   [Sossalla, Samuel] DZHK German Ctr Cardiovasc Res, Partner Site Gottingen, Hamburg, Germany.
   [Stehr, Sebastian N.] Univ Hosp Jena, Dept Anesthesiol & Crit Care Med, D-07747 Jena, Germany.
C3 Swiss Federal Institutes of Technology Domain; ETH Zurich; University of
   Lausanne; Swiss Federal Institutes of Technology Domain; ETH Zurich; MRC
   Laboratory Molecular Biology; University of Gottingen; German Centre for
   Cardiovascular Research; Friedrich Schiller University of Jena
RP Krek, W (corresponding author), ETH, Inst Mol Hlth Sci, CH-8093 Zurich, Switzerland.
EM wilhelm.krek@biol.ethz.ch
RI Sarre, Alexandre/HNB-4369-2023; Zamboni, Nicola/K-3042-2012; Sossalla,
   Samuel/AAF-3611-2020; Ule, Jernej/C-6315-2013
OI Sarre, Alexandre/0009-0008-7374-8278; Sossalla,
   Samuel/0000-0001-8034-2673; Zamboni, Nicola/0000-0003-1271-1021;
   Krishnan, Jaya/0000-0002-5698-7671; Ule, Jernej/0000-0002-2452-4277;
   Christinat, Yann/0000-0002-4977-1362; Grimm, Fiona/0000-0001-5249-619X;
   Fankhauser, Niklaus/0000-0002-0023-3993
FU Sinergia (Swiss National Science Foundation); Swiss Heart Foundation;
   MRC [MC_U105185858, MC_U105185859] Funding Source: UKRI
FX We thank S. Georgiev, T. Simka, S. Xu, C. Bischoff, J. M. Dominguez, W.
   Kovacs and M. Piontek and other members of the Krek laboratory for
   discussions, help and technical assistance. We are grateful to M.
   Stoffel for performing tail vein injections. K. Chien, A. Asipu and R.
   J. Johnson provided mouse lines. This work was supported by grants from
   Sinergia (Swiss National Science Foundation) to W. K., T.P. and J. U.
   and the Swiss Heart Foundation to W. K.
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NR 48
TC 131
Z9 145
U1 3
U2 64
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD JUN 25
PY 2015
VL 522
IS 7557
BP 444
EP +
DI 10.1038/nature14508
PG 22
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA CL2OC
UT WOS:000356782900042
PM 26083752
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Hasin-Brumshtein, Y
   Khan, AH
   Hormozdiari, F
   Pan, CV
   Parks, BW
   Petyuk, VA
   Piehowski, PD
   Brümmer, A
   Pellegrini, M
   Xiao, XS
   Eskin, E
   Smith, RD
   Lusis, AJ
   Smith, DJ
AF Hasin-Brumshtein, Yehudit
   Khan, Arshad H.
   Hormozdiari, Farhad
   Pan, Calvin
   Parks, Brian W.
   Petyuk, Vladislav A.
   Piehowski, Paul D.
   Brummer, Anneke
   Pellegrini, Matteo
   Xiao, Xinshu
   Eskin, Eleazar
   Smith, Richard D.
   Lusis, Aldons J.
   Smith, Desmond J.
TI Hypothalamic transcriptomes of 99 mouse strains reveal trans eQTL
   hotspots, splicing QTLs and novel non-coding genes
SO ELIFE
LA English
DT Article
ID QUANTITATIVE TRAIT LOCI; MYOCARDIAL-INFARCTION; REGULATORY HOTSPOTS;
   MULTIPLE TISSUES; EXPRESSION; MICE; RNA; ATHEROSCLEROSIS;
   IDENTIFICATION; ASSOCIATION
AB Previous studies had shown that the integration of genome wide expression profiles, in metabolic tissues, with genetic and phenotypic variance, provided valuable insight into the underlying molecular mechanisms. We used RNA-Seq to characterize hypothalamic transcriptome in 99 inbred strains of mice from the Hybrid Mouse Diversity Panel (HMDP), a reference resource population for cardiovascular and metabolic traits. We report numerous novel transcripts supported by proteomic analyses, as well as novel non coding RNAs. High resolution genetic mapping of transcript levels in HMDP, reveals both local and trans expression Quantitative Trait Loci (eQTLs) demonstrating 2 trans eQTL 'hotspots' associated with expression of hundreds of genes. We also report thousands of alternative splicing events regulated by genetic variants. Finally, comparison with about 150 metabolic and cardiovascular traits revealed many highly significant associations. Our data provide a rich resource for understanding the many physiologic functions mediated by the hypothalamus and their genetic regulation.
C1 [Hasin-Brumshtein, Yehudit; Pan, Calvin; Parks, Brian W.; Lusis, Aldons J.] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA.
   [Hasin-Brumshtein, Yehudit; Pan, Calvin; Parks, Brian W.; Lusis, Aldons J.] Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA.
   [Hasin-Brumshtein, Yehudit; Parks, Brian W.; Lusis, Aldons J.] Univ Calif Los Angeles, Dept Microbiol, Los Angeles, CA 90024 USA.
   [Hasin-Brumshtein, Yehudit; Parks, Brian W.; Lusis, Aldons J.] Univ Calif Los Angeles, Dept Immunol & Mol Genet, Los Angeles, CA 90095 USA.
   [Khan, Arshad H.; Smith, Desmond J.] Univ Calif Los Angeles, Dept Mol & Med Pharmacol, Los Angeles, CA USA.
   [Hormozdiari, Farhad; Eskin, Eleazar] Univ Calif Los Angeles, Dept Comp Sci, Los Angeles, CA 90024 USA.
   [Petyuk, Vladislav A.; Piehowski, Paul D.; Smith, Richard D.] Pacific Northwest Natl Lab, Div Biol Sci, Richland, WA 99352 USA.
   [Brummer, Anneke; Xiao, Xinshu] Univ Calif Los Angeles, Dept Integrat Biol & Physiol, Los Angeles, CA USA.
   [Pellegrini, Matteo] Univ Calif Los Angeles, Dept Mol Cell & Dev Biol, Los Angeles, CA USA.
C3 University of California System; University of California Los Angeles;
   University of California System; University of California Los Angeles;
   University of California Los Angeles Medical Center; David Geffen School
   of Medicine at UCLA; University of California System; University of
   California Los Angeles; University of California System; University of
   California Los Angeles; University of California System; University of
   California Los Angeles; University of California System; University of
   California Los Angeles; United States Department of Energy (DOE);
   Pacific Northwest National Laboratory; University of California System;
   University of California Los Angeles; University of California System;
   University of California Los Angeles
RP Hasin-Brumshtein, Y (corresponding author), Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA.; Hasin-Brumshtein, Y (corresponding author), Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA.; Hasin-Brumshtein, Y (corresponding author), Univ Calif Los Angeles, Dept Microbiol, Los Angeles, CA 90024 USA.; Hasin-Brumshtein, Y (corresponding author), Univ Calif Los Angeles, Dept Immunol & Mol Genet, Los Angeles, CA 90095 USA.
EM yehudit.hasin@gmail.com
RI Smith, Richard/J-3664-2012; Piehowski, Paul/AAH-5497-2019; Pellegrini,
   Matteo/AFS-3694-2022
OI Pellegrini, Matteo/0000-0001-9355-9564; Brummer,
   Anneke/0000-0002-3576-0750; Hasin-Brumshtein,
   Yehudit/0000-0001-7528-603X; Xiao, Xinshu/0000-0002-9362-8029;
   Piehowski, Paul/0000-0001-5108-2227
FU National Institutes of Health [R01GM098273, R01HG006264]; National
   Institute of General Medical Sciences [GM103493]; W.R. Wiley
   Environmental Molecular Science Laboratory [DE-AC05-76RLO-1830]; Direct
   For Computer & Info Scie & Enginr [1302448] Funding Source: National
   Science Foundation; Div Of Information & Intelligent Systems [1302448]
   Funding Source: National Science Foundation
FX National Institutes of Health R01GM098273 Yehudit Hasin-Brumshtein
   Arshad H Khan Calvin Pan Vladislav A Petyuk Paul D Piehowski Richard D
   Smith Aldons J Lusis Desmond J Smith National Institute of General
   Medical Sciences GM103493 Vladislav A Petyuk Paul D Piehowski Richard D
   Smith W.R. Wiley Environmental Molecular Science Laboratory
   DE-AC05-76RLO-1830 Vladislav A Petyuk Paul D Piehowski Richard D Smith
   National Institutes of Health R01HG006264 Anneke Brummer Xinshu Xiao The
   funders had no role in study design, data collection and interpretation,
   or the decision to submit the work for publication.
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NR 70
TC 25
Z9 29
U1 1
U2 20
PU ELIFE SCIENCES PUBLICATIONS LTD
PI CAMBRIDGE
PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND
SN 2050-084X
J9 ELIFE
JI eLife
PD SEP 13
PY 2016
VL 5
AR e15614
DI 10.7554/eLife.15614
PG 24
WC Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Life Sciences & Biomedicine - Other Topics
GA DZ4VX
UT WOS:000385859900001
PM 27623010
OA Green Published, Green Submitted, gold
DA 2025-04-10
ER

PT J
AU Wang, L
   Huang, PS
   Near, D
   Ravi, K
   Xu, YX
   Liu, JD
   Qian, L
AF Wang, Li
   Huang, Peisen
   Near, David
   Ravi, Karan
   Xu, Yangxi
   Liu, Jiandong
   Qian, Li
TI Isoform Specific Effects of Mef2C during Direct Cardiac Reprogramming
SO CELLS
LA English
DT Article
DE fibroblasts; Mef2C protein; isoform; cardiac myocytes; reprogramming
ID HUMAN FIBROBLASTS; GENE; CARDIOMYOCYTES; EXPRESSION; MYOCYTES; HEART;
   GATA4; DHAND
AB Direct conversion of cardiac fibroblasts into induced cardiomyocytes (iCMs) by forced expression of defined factors holds great potential for regenerative medicine by offering an alternative strategy for treatment of heart disease. Successful iCM conversion can be achieved by minimally using three transcription factors, Mef2c (M), Gata4(G), and Tbx5 (T). Despite increasing interest in iCM mechanistic studies using MGT(polycistronic construct with optimal expression of M,G and T), the reprogramming efficiency varies among different laboratories. Two main Mef2c isoforms (isoform2, Mi2 and isoform4, Mi4) are present in heart and are used separately by different labs, for iCM reprogramming. It is currently unknown if differently spliced isoform of Mef2c contributes to varied reprogramming efficiency. Here, we used Mi2 and Mi4 together with Gata4 and Tbx5 in separate vectors or polycistronic vector, to convert fibroblasts to iCMs. We found that Mi2 can induce higher reprogramming efficiency than Mi4 in MEFs. Addition of Hand2 to MGT retroviral cocktail or polycistronic Mi2-GT retroviruses further enhanced the iCM conversion. Overall, this study demonstrated the isoform specific effects of Mef2c, during iCM reprogramming, clarified some discrepancy about varied efficiency among labs and might lead to future research into the role of alternative splicing and the consequent variants in cell fate determination.
C1 [Wang, Li; Huang, Peisen; Near, David; Ravi, Karan; Xu, Yangxi; Liu, Jiandong; Qian, Li] Univ North Carolina, McAllister Heart Inst, Chapel Hill, NC 27599 USA.
   [Wang, Li; Huang, Peisen; Near, David; Ravi, Karan; Xu, Yangxi; Liu, Jiandong; Qian, Li] Univ North Carolina, Dept Pathol & Lab Med, Chapel Hill, NC 27599 USA.
   [Huang, Peisen] Sun Yat Sen Univ, Affiliated Hosp 1, Dept Cardiol, Guangzhou 510080, Peoples R China.
   [Huang, Peisen] Sun Yat Sen Univ, NHC Key Lab Assisted Circulat, Guangzhou 510080, Peoples R China.
C3 University of North Carolina; University of North Carolina Chapel Hill;
   University of North Carolina; University of North Carolina Chapel Hill;
   Sun Yat Sen University; Sun Yat Sen University
RP Qian, L (corresponding author), Univ North Carolina, McAllister Heart Inst, Chapel Hill, NC 27599 USA.; Qian, L (corresponding author), Univ North Carolina, Dept Pathol & Lab Med, Chapel Hill, NC 27599 USA.
EM wali@email.unc.edu; hps0814@sina.com; dave97@live.unc.edu;
   karan97@live.unc.edu; yangxixu@unc.edu; jiandong_liu@med.unc.edu;
   li_qian@med.unc.edu
RI qian, li/HZI-1596-2023
OI Qian, Li/0000-0001-7614-5618; Huang, Peisen/0000-0001-5010-2599
FU American Heart Association (AHA) Career Development Award
   [18CDA34110340]; AHA [15GRNT25530005, 18TPA34180058]; NIH/NHLBI
   [R01HL139880, R01HL128331, R01HL144551]; American Heart Association
   (AHA) [15GRNT25530005, 18CDA34110340, 18TPA34180058] Funding Source:
   American Heart Association (AHA)
FX This study was supported by American Heart Association (AHA) Career
   Development Award 18CDA34110340 to L.W., AHA 15GRNT25530005, NIH/NHLBI
   R01HL139880 to J.L., and AHA 18TPA34180058, NIH/NHLBI R01HL128331,
   R01HL144551 to L.Q.
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NR 36
TC 11
Z9 11
U1 0
U2 7
PU MDPI
PI BASEL
PA MDPI AG, Grosspeteranlage 5, CH-4052 BASEL, SWITZERLAND
EI 2073-4409
J9 CELLS-BASEL
JI Cells
PD FEB
PY 2020
VL 9
IS 2
AR 268
DI 10.3390/cells9020268
PG 14
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA KX5UC
UT WOS:000521944900009
PM 31979018
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Georges, R
   Nemer, G
   Morin, M
   Lefebvre, C
   Nemer, M
AF Georges, Romain
   Nemer, Georges
   Morin, Martin
   Lefebvre, Chantal
   Nemer, Mona
TI Distinct expression and function of alternatively spliced Tbx5 isoforms
   in cell growth and differentiation
SO MOLECULAR AND CELLULAR BIOLOGY
LA English
DT Article
ID HOLT-ORAM-SYNDROME; NUCLEAR-LOCALIZATION; HEART DEVELOPMENT;
   GENE-EXPRESSION; IN-VIVO; MUTATIONS; LIMB; GATA-4; NKX2-5; CARDIOGENESIS
AB Mutations in the T-box transcription factor Tbx5 cause Holt-Oram syndrome, an autosomal dominant disease characterized by a wide spectrum of cardiac and upper limb defects with variable expressivity. Tbx5 haploinsufficiency has been suggested to be the underlying mechanism, and experimental models are consistent with a dosage-sensitive requirement for Tbx5 in heart development. Here, we report that Tbx5 levels are regulated through alternative splicing that generates, in addition to the known 518-amino-acid protein, a C-terminal truncated isoform. This shorter isoform retains the capacity to bind DNA, but its interaction with Tbx5 collaborators such as GATA-4 is altered. In vivo, the two spliced isoforms are oppositely regulated in a temporal and growth factor-dependent manner and are present in distinct DNA-binding complexes. The expression of the long isoform correlates with growth stimulation, and its reexpression in postnatal transgenic mouse hearts promotes hypertrophy. Conversely, the upregulation of the short but not the long isoform in C2C12 myoblasts leads to growth arrest and cell death. The results provide novel insight into posttranscriptional Tbx5 regulation and point to an important role not only in cell differentiation but also in cell proliferation and organ growth. The data may help analyze genotype-phenotype relations in patients with Holt-Oram syndrome.
C1 [Georges, Romain; Nemer, Georges; Morin, Martin; Lefebvre, Chantal; Nemer, Mona] Inst Rech Clin Montreal, Res Unit Cardiac Growth & Differentiat, Montreal, PQ H2W 1R7, Canada.
   [Georges, Romain; Nemer, Georges; Morin, Martin; Nemer, Mona] Univ Montreal, Programme Biol Mol, Montreal, PQ, Canada.
   [Nemer, Mona] Univ Ottawa, Dept Biochem, Ottawa, ON, Canada.
C3 Universite de Montreal; Institut de Recherche Clinique de Montreal
   (IRCM); Universite de Montreal; University of Ottawa
RP Nemer, M (corresponding author), Inst Rech Clin Montreal, Res Unit Cardiac Growth & Differentiat, 110 Ave Pins Ouest, Montreal, PQ H2W 1R7, Canada.
EM mona.nemer@ircm.qc.ca
RI Nemer, Georges/ABB-5117-2020
OI Nemer, Georges/0000-0003-2157-5279
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NR 38
TC 43
Z9 55
U1 0
U2 4
PU AMER SOC MICROBIOLOGY
PI WASHINGTON
PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA
SN 0270-7306
EI 1098-5549
J9 MOL CELL BIOL
JI Mol. Cell. Biol.
PD JUN
PY 2008
VL 28
IS 12
BP 4052
EP 4067
DI 10.1128/MCB.02100-07
PG 16
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 309HT
UT WOS:000256452000015
PM 18391012
OA Green Published, Green Accepted
DA 2025-04-10
ER

PT J
AU Singh, G
   Charlet-B, N
   Han, J
   Cooper, TA
AF Singh, G
   Charlet-B, N
   Han, J
   Cooper, TA
TI ETR-3 and CELF4 protein domains required for RNA binding and splicing
   activity in vivo
SO NUCLEIC ACIDS RESEARCH
LA English
DT Article
ID CARDIAC TROPONIN-T; MESSENGER-RNA; ADULT ISOFORMS; GENE; INCLUSION;
   DIVERSITY; ENHANCER; REPEATS; FAMILY; REGION
AB Members of the CUG-BP and ETR-3 like factor (CELF) protein family bind within conserved intronic elements (called MSEs) flanking the cardiac troponin T (cTNT) alternative exon 5 and promote exon inclusion in vivo and in vitro. Here we use a comparative deletion analysis of two family members (ETR-3 and CELF4) to identify separate domains required for RNA binding and splicing activity in vivo. CELF proteins contain two adjacent RNA binding domains (RRM1 and RRM2) near the N-terminus and one RRM (RRM3) near the C-terminus, which are separated by a 160-230 residue divergent domain of unknown function. Either RRM1 or RRM2 of CELF4 are necessary and sufficient for binding MSE RNA and RRM2 plus an additional 66 amino acids of the divergent domain are as effective as full-length protein in activating MSE-dependent splicing in vivo. Non-overlapping N- and C-terminal regions of ETR-3 containing either RRM1 and RRM2 or RRM3 plus segments of the adjacent divergent domain activate MSE-dependent exon inclusion demonstrating an unusual functional redundancy of the N- and C-termini of the protein. These results identify specific regions of ETR-3 and CELF4 that are likely targets of protein-protein interactions required for splicing activation.
C1 Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
   Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine
RP Baylor Coll Med, Dept Pathol, 1 Baylor Plaza, Houston, TX 77030 USA.
EM tcooper@bcm.tmc.edu
RI Charlet-Berguerand, Nicolas/GZM-6636-2022; Charlet-Berguerand,
   Nicolas/I-6727-2016
OI Han, Jin/0000-0003-0662-006X; Charlet-Berguerand,
   Nicolas/0000-0002-4423-4920
FU NHLBI NIH HHS [R01 HL045565, R01HL45565] Funding Source: Medline
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NR 33
TC 36
Z9 44
U1 0
U2 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0305-1048
EI 1362-4962
J9 NUCLEIC ACIDS RES
JI Nucleic Acids Res.
PD FEB
PY 2004
VL 32
IS 3
BP 1232
EP 1241
DI 10.1093/nar/gkh275
PG 10
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 807GQ
UT WOS:000220490400039
PM 14973222
OA Green Published, Bronze, Green Submitted
DA 2025-04-10
ER

PT J
AU Arteaga, MF
   Coric, T
   Straub, C
   Canessa, CM
AF Arteaga, Maria F.
   Coric, Tatjana
   Straub, Christoph
   Canessa, Cecilia M.
TI A brain-specific SGK1 splice isoform regulates expression of ASIC1 in
   neurons
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
   AMERICA
LA English
DT Article
DE alternative promoter; proton-activated channel; serum- and
   glucocorticoid-induced kinase
ID GLUCOCORTICOID-INDUCED KINASE-1; PROTEIN-KINASE; GENE-EXPRESSION;
   RETT-SYNDROME; MOUSE MODEL; SERUM; MEMBER; CONSOLIDATION; TRANSCRIPTION;
   ACTIVATION
AB Neurodegenerative diseases and noxious stimuli to the brain enhance transcription of serum- and glucocorticoid-induced kinase-1 (SGK1). Here, we report that the SGK1 gene encodes a brain-specific additional isoform, SGK1.1, which exhibits distinct regulation, properties, and functional effects. SGK1.1 decreases expression of the acid-sensing ion channel-1 (ASIC1); thereby, SGK1.1 may limit neuronal injury associated to activation of ASIC1 in ischemia. Given that neurons express at least two splice isoforms, SGK1 and SGK1.1, driven by distinct promoters, any changes in SGK1 transcript level must be examined to define the isoform induced by each stimulus or neurological disorder.
C1 [Arteaga, Maria F.; Coric, Tatjana; Straub, Christoph; Canessa, Cecilia M.] Yale Univ, Dept Cellular & Mol Physiol, New Haven, CT 06520 USA.
C3 Yale University
RP Canessa, CM (corresponding author), Yale Univ, Dept Cellular & Mol Physiol, 333 Cedar St, New Haven, CT 06520 USA.
EM cecilia.canessa@yale.edu
RI Arteaga, Maria Francisca/GPS-7709-2022
OI Arteaga, Maria Francisca/0000-0003-3280-5113
FU NIDDK NIH HHS [R01 DK054062, DK054062.06A1] Funding Source: Medline
CR Arteaga MF, 2007, MOL BIOL CELL, V18, P2072, DOI 10.1091/mbc.E06-10-0968
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NR 31
TC 52
Z9 59
U1 1
U2 2
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD MAR 18
PY 2008
VL 105
IS 11
BP 4459
EP 4464
DI 10.1073/pnas.0800958105
PG 6
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA 278DH
UT WOS:000254263300069
PM 18334630
OA Green Published
DA 2025-04-10
ER

PT J
AU Mar, XF
   Kawamto, S
   Uribe, J
   Adelstein, RS
AF Mar, XF
   Kawamto, S
   Uribe, J
   Adelstein, RS
TI Function of the neuron-specific alternatively spliced isoforms of
   nonmuscle myosin II-B during mouse brain development
SO MOLECULAR BIOLOGY OF THE CELL
LA English
DT Article
ID HEAVY CHAIN-B; CARDIAC-MUSCLE; CYTOKINESIS; EXPRESSION; ABLATION; MICE;
   GENE; RECOMBINATION; HYDROCEPHALUS; MIGRATION
AB We report that the alternatively spliced isoforms of nonmuscle myosin heavy chain II-B (NHMC II-B) play distinct roles during mouse brain development. The B1-inserted isoform of NMHC II-B, which contains an insert of 10 amino acids near the ATP-binding region (loop 1) of the myosin heavy chain, is involved in normal migration of facial neurons. In contrast, the B2-inserted isoform, which contains an insert of 21 amino acids near the actin-binding region (loop 2). is important for postnatal development of cerebellar Purkinje cells. Deletion of the B1 alternative exon, together with reduced expression of myosin II-B, results in abnormal migration and consequent protrusion of facial neurons into the fourth ventricle. This protrusion is associated with the development of hydrocephalus. Restoring the amount of myosin II-B expression to wild-type levels prevents these defects, showing the importance of total myosin activity in facial neuron migration. In contrast, deletion of the B2 alternative exon results in abnormal development of cerebellar Purkinje cells. Cells lacking the B2-inserted isoform show reduced numbers of dendritic spines and branches. Some of the B2-ablated Purkinje cells are misplaced in the cerebellar molecular layer. All of the B2-ablated mice demonstrated impaired motor coordination.
C1 NHLBI, Mol Cardiol Lab, NIH, Bethesda, MD 20892 USA.
C3 National Institutes of Health (NIH) - USA; NIH National Heart Lung &
   Blood Institute (NHLBI)
RP NHLBI, Mol Cardiol Lab, NIH, Bldg 10, Bethesda, MD 20892 USA.
EM adelster@nhlbi.nih.gov
OI Adelstein, Robert/0000-0002-8683-2144
FU Intramural NIH HHS Funding Source: Medline
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NR 35
TC 37
Z9 45
U1 0
U2 0
PU AMER SOC CELL BIOLOGY
PI BETHESDA
PA 8120 WOODMONT AVE, STE 750, BETHESDA, MD 20814-2755 USA
SN 1059-1524
EI 1939-4586
J9 MOL BIOL CELL
JI Mol. Biol. Cell
PD MAY
PY 2006
VL 17
IS 5
BP 2138
EP 2149
DI 10.1091/mbc.E05-10-0097
PG 12
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 040KZ
UT WOS:000237378800004
PM 16481398
DA 2025-04-10
ER

PT J
AU Maul, TM
   Nelson, JS
   Wearden, PD
AF Maul, Timothy M.
   Nelson, Jennifer S.
   Wearden, Peter D.
TI Paracorporeal Lung Devices: Thinking Outside the Box
SO FRONTIERS IN PEDIATRICS
LA English
DT Review
DE paracorporeal; lung assist; VAD; oxygenator; hybrid
ID VENTRICULAR-ASSIST DEVICES; EXTRACORPOREAL MEMBRANE-OXYGENATION;
   MECHANICAL CIRCULATORY SUPPORT; PULMONARY-HYPERTENSION;
   HEART-TRANSPLANTATION; ANTICOAGULATION MANAGEMENT; CLINICAL-EXPERIENCE;
   RESPIRATORY-FAILURE; PEDIATRIC-PATIENTS; YOUNG-CHILDREN
AB Extracorporeal Membrane Oxygenation (ECMO) is a resource intensive, life-preserving support system that has seen ever-expanding clinical indications as technology and collective experience has matured. Clinicians caring for patients who develop pulmonary failure secondary to cardiac failure can find themselves in unique situations where traditional ECMO may not be the ideal clinical solution. Existing paracorporeal ventricular assist device (VAD) technology or unique patient physiologies offer the opportunity for thinking "outside the box." Hybrid ECMO approaches include splicing oxygenators into paracorporeal VAD systems and alternative cannulation strategies to provide a staged approach to transition a patient from ECMO to a VAD. Alternative technologies include the adaptation of ECMO and extracorporeal CO2 removal systems for specific physiologies and pediatric aged patients. This chapter will focus on: (1) hybrid and alternative approaches to extracorporeal support for pulmonary failure, (2) patient selection and, (3) technical considerations of these therapies. By examining the successes and challenges of the relatively select patients treated with these approaches, we hope to spur appropriate research and development to expand the clinical armamentarium of extracorporeal technology.
C1 [Maul, Timothy M.; Nelson, Jennifer S.; Wearden, Peter D.] Nemours Childrens Hosp, Dept Cardiac Surg, Orlando, FL 32827 USA.
   [Maul, Timothy M.] Univ Pittsburgh, Dept Biomed Engn, Pittsburgh, PA 15260 USA.
   [Wearden, Peter D.] Univ Pittsburgh, Dept Cardiothorac Surg, Pittsburgh, PA USA.
C3 Pennsylvania Commonwealth System of Higher Education (PCSHE); University
   of Pittsburgh; Pennsylvania Commonwealth System of Higher Education
   (PCSHE); University of Pittsburgh
RP Maul, TM (corresponding author), Nemours Childrens Hosp, Dept Cardiac Surg, Orlando, FL 32827 USA.; Maul, TM (corresponding author), Univ Pittsburgh, Dept Biomed Engn, Pittsburgh, PA 15260 USA.
EM timothy.maul@nemours.org
RI ; Maul, Timothy/B-1916-2010
OI Nelson, Jennifer/0000-0001-9656-1125; Maul, Timothy/0000-0003-2722-7523
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NR 50
TC 6
Z9 6
U1 0
U2 6
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 2296-2360
J9 FRONT PEDIATR
JI Front. Pediatr.
PD SEP 5
PY 2018
VL 6
AR 243
DI 10.3389/fped.2018.00243
PG 13
WC Pediatrics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pediatrics
GA GS5ZP
UT WOS:000443759300001
PM 30234079
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Yousaf, N
   Low, WY
   Onipinla, A
   Mein, C
   Caulfield, M
   Munroe, PB
   Chernajovsky, Y
AF Yousaf, N.
   Low, W. Y.
   Onipinla, A.
   Mein, C.
   Caulfield, M.
   Munroe, P. B.
   Chernajovsky, Y.
TI Differences between disease-associated endoplasmic reticulum
   aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions
   with tumour necrosis factor receptor 1 (TNF-R1) and regulation by
   cytokines
SO CLINICAL AND EXPERIMENTAL IMMUNOLOGY
LA English
DT Article
DE alternative splicing; cytokines; ERAP1; exosome; TNF-R1
ID EXTRACELLULAR TNFR1 RELEASE; GENOME-WIDE ASSOCIATION; I-PRESENTED
   PEPTIDES; ANKYLOSING-SPONDYLITIS; SUSCEPTIBILITY LOCI; MHC; ACTIVATION;
   LIPOPOLYSACCHARIDE; HYPERTENSION; VARIANTS
AB Endoplasmic reticulum aminopeptidase 1 (ERAP1) processes peptides for major histocompatibility complex (MHC) class I presentation and promotes cytokine receptor ectodomain shedding. These known functions of ERAP1 may explain its genetic association with several autoimmune inflammatory diseases. In this study, we identified four novel alternatively spliced variants of ERAP1 mRNA, designated as Exon-11, Exon-13, Exon-14 and Exon-15. We also observed a rapid and differential modulation of ERAP1 mRNA levels and spliced variants in different cell types pretreated with lipopolysaccharide (LPS). We have studied three full-length allelic forms of ERAP1 (R127-K528, P127-K528, P127-R528) and one spliced variant (Exon-11) and assessed their interactions with tumour necrosis factor receptor 1 (TNF-R1) in transfected cells. We observed variation in cellular expression of different ERAP1 isoforms, with R127-K528 being expressed at a much lower level. Furthermore, the cellular expression of full-length P127-K528 and Exon-11 spliced variant was enhanced significantly when co-transfected with TNF-R1. Isoforms P127-K528, P127-R528 and Exon-11 spliced variant associated with TNF-R1, and this interaction occurred in a region within the first 10exons of ERAP1. Supernatant-derived vesicles from transfected cells contained the full-length and ectodomain form of soluble TNF-R1, as well as carrying the full-length ERAP1 isoforms. We observed marginal differences between TNF-R1 ectodomain levels when co-expressed with individual ERAP1 isoforms, and treatment of transfected cells with tumour necrosis factor (TNF), interleukin (IL)-1 and IL-10 exerted variable effects on TNF-R1 ectodomain cleavage. Our data suggest that ERAP1 isoforms may exhibit differential biological properties and inflammatory mediators could play critical roles in modulating ERAP1 expression, leading to altered functional activities of this enzyme.
C1 [Yousaf, N.; Low, W. Y.; Chernajovsky, Y.] Queen Mary Univ London, Bone & Joint Res Unit, London EC1M 6BQ, England.
   [Low, W. Y.; Onipinla, A.; Caulfield, M.; Munroe, P. B.] Queen Mary Univ London, Clin Pharmacol, London EC1M 6BQ, England.
   [Mein, C.] Queen Mary Univ London, Genome Ctr, William Harvey Res Inst, Barts & London Sch Med & Dent, London EC1M 6BQ, England.
C3 University of London; Queen Mary University London; University of
   London; Queen Mary University London; University of London; Queen Mary
   University London
RP Chernajovsky, Y (corresponding author), Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, Bone & Joint Res Unit, Charterhouse Sq, London EC1M 6BQ, England.
EM y.chernajovsky@qmul.ac.uk
RI Munroe, Patricia/HJP-3565-2023
OI Munroe, Patricia/0000-0002-4176-2947; Mein, Charles/0000-0003-0811-9658;
   Caulfield, Mark/0000-0001-9295-3594
FU Arthritis Research UK [18330, 17559]; Medical Research Council of Great
   Britain [G9521010D]; British Heart Foundation [PG02/128]; National
   Institute of Health Research; Barts; London Charity; MRC [G9521010]
   Funding Source: UKRI
FX This work was supported by Arthritis Research UK (grant numbers 18330
   and 17559). The BRIGHT study was supported by the Medical Research
   Council of Great Britain (grant number G9521010D) and the British Heart
   Foundation (grant number PG02/128). This work forms a part of research
   themes contributing to translational research portfolio of Barts
   Cardiovascular Biomedical Research Unit, which is funded by the National
   Institute of Health Research (M. C. and P. B. M). The Genome Centre is
   funded by the Barts and The London Charity. We thank Dr Masafumi
   Tsujimoto (RIKEN, Saitama, Japan) for providing anti-human ERAP1
   antibody and Professor Mauro Perretti (Queen Mary University of London,
   London, UK) for annexin I antibody. We also thank Dr Alexander Annenkov
   (Queen Mary University of London, London, UK) for helpful suggestions
   and critical reading of this manuscript.
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NR 52
TC 9
Z9 9
U1 0
U2 8
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-9104
EI 1365-2249
J9 CLIN EXP IMMUNOL
JI Clin. Exp. Immunol.
PD MAY
PY 2015
VL 180
IS 2
BP 289
EP 304
DI 10.1111/cei.12575
PG 16
WC Immunology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Immunology
GA CG1QR
UT WOS:000353048900014
PM 25545008
OA Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Cooper, AV
   Standeven, KF
   Ariëns, RAS
AF Cooper, AV
   Standeven, KF
   Ariëns, RAS
TI Fibrinogen gamma-chain splice variant γ′ alters fibrin formation and
   structure
SO BLOOD
LA English
DT Article
ID CORONARY-ARTERY DISEASE; AMINO-ACID-SEQUENCE; FACTOR-XIII; THROMBIN
   BINDING; CLOT STRUCTURE; PLASMA; MICROSCOPY; MOLECULES; HETEROGENEITY;
   AGGREGATION
AB Fibrinogen gammaA/gamma' results from alternative splicing of mRNA. This variant, which constitutes approximately 8% to 15% of plasma fibrinogen, contains FXIII and thrombin binding sites. Our objective was to investigate whether gammaA/gamma' differs in fibrin formation and structure from the more common variant gammaA/gammaA. Both variants were separated and purified by anionexchange chromatography. Fibrin formation and clot structure of the variants and unfractionated fibrinogen were investigated by turbidity and scanning electron microscopy (SEM). Thrombin cleavage of fibrinopeptides was analyzed by high-performance liquid chromatography (HPLC). Turbidity analysis showed significantly altered polymerization rates and overall fiber thickness gammaA/gamma' clots compared with gammaA/gammaA and unfractionated fibrinogen. This finding was consistent with a range of thrombin concentrations. HPLC demonstrated reduced rates of fibrinopeptide B (FpB) release from gammaA/gamma' fibrinogen compared with gammaA/gammaA. Delayed FpB release was associated with delayed lateral aggregation of protofibrils and significant differences were found on SEM, with gammaA/gamma' clots consisting of smaller diameter fibers and increased numbers of branch points compared with both gammaA/gammaA and unfractionated fibrinogen. These results demonstrate that the gammaA/gamma' splice variant of fibrinogen directly alters fibrin formation and structure, which may help to explain the increased thrombotic risk associated with this variant. (C) 2003 by The American Society of Hematology.
C1 Univ Leeds, Gen Infirm, Acad Unit Mol Vasc Med, Leeds LS1 3EX, W Yorkshire, England.
C3 University of Leeds; Leeds General Infirmary
RP Ariëns, RAS (corresponding author), Univ Leeds, Gen Infirm, Acad Unit Mol Vasc Med, G Floor,Martin Wing, Leeds LS1 3EX, W Yorkshire, England.
OI Ariens, Robert/0000-0002-6310-5745
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NR 32
TC 109
Z9 116
U1 0
U2 6
PU AMER SOC HEMATOLOGY
PI WASHINGTON
PA 1900 M STREET. NW SUITE 200, WASHINGTON, DC 20036 USA
SN 0006-4971
J9 BLOOD
JI Blood
PD JUL 15
PY 2003
VL 102
IS 2
BP 535
EP 540
DI 10.1182/blood-2002-10-3150
PG 6
WC Hematology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology
GA 699XY
UT WOS:000184083500027
PM 12663453
OA Bronze
DA 2025-04-10
ER

PT J
AU Eisenreich, A
   Boltzen, U
   Poller, W
   Schultheiss, HP
   Rauch, U
AF Eisenreich, Andreas
   Boltzen, Ulrike
   Poller, Wolfgang
   Schultheiss, Heinz-Peter
   Rauch, Ursula
TI Effects of the Cdc2-like kinase-family and DNA topoisomerase I on the
   alternative splicing of eNOS in TNF-α-stimulated human endothelial cells
SO BIOLOGICAL CHEMISTRY
LA English
DT Article
DE camptothecin; human umbilical vein endothelial cells (HUVECs);
   inflammation; nitric oxide; TG003
ID TUMOR-NECROSIS-FACTOR; CIRCULATING TISSUE FACTOR;
   CORONARY-ARTERY-DISEASE; FACTOR EXPRESSION; PHOSPHORYLATION; INHIBITOR;
   SYNTHASE; CLK/STY; RNA; SPECIFICITY
AB Nitric oxide (NO) is synthesized by endothelial nitric oxide synthase (eNOS) and plays an important role in vascular homeostasis and cardiovascular diseases. It has recently been shown that increased expression of alternatively spliced eNOS isoforms eNOS 13A, B and C and heterodimerization with 'full-length' eNOS is associated with a decreased eNOS activity. The regulatory pathways enabling this phenomenon are completely unknown. This study examined the effect of Cdc2-like kinases and DNA topoisomerase I on eNOS splicing in TNF-alpha-induced human umbilical vein endothelial cells (HUVECs). We found that inhibition of DNA topoisomerase I, but not Cdc2-like kinases, prevents the TNF-alpha-induced increase in eNOS isoform expression and NO reduction in HUVEC. Moreover, we show that the inhibition of DNA topoisomerase I or the Cdc2-like kinases differently modulates the phosphorylation of the serine/arginine-rich proteins SRp75 and SRp55. Our results demonstrate, for the first time, that DNA topoisomerase I but not Cdc2-like kinases serves as an important regulator of the differential eNOS isoform expression in endothelial cells, thereby modulating the TNF-alpha-induced eNOS activity switch.
C1 [Eisenreich, Andreas; Boltzen, Ulrike; Poller, Wolfgang; Schultheiss, Heinz-Peter; Rauch, Ursula] Charite Univ Med Berlin, Centrum Herz & Kreislaufmed, D-12200 Berlin, Germany.
C3 Berlin Institute of Health; Free University of Berlin; Humboldt
   University of Berlin; Charite Universitatsmedizin Berlin
RP Rauch, U (corresponding author), Charite Univ Med Berlin, Centrum Herz & Kreislaufmed, Campus Benjamin Franklin, D-12200 Berlin, Germany.
EM ursula.rauch@charite.de
RI Schultheiss, Heinz-Peter/HMP-2467-2023; Poller, Wolfgang/AAB-2185-2021
OI Eisenreich, Andreas/0000-0002-0615-7901; Poller,
   Wolfgang/0000-0002-2805-6634; Eisenreich, Andreas/0000-0001-7169-3615
FU Deutsche Forschungsgemeinschaft (DFG) [GRK 865, SFB-TR19]
FX This work was supported by grants from the Deutsche
   Forschungsgemeinschaft (DFG) (GRK 865 to U.R. and W.P; SFB-TR19 to U.R.,
   W.R and H.-P.S.).
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NR 30
TC 21
Z9 21
U1 0
U2 3
PU WALTER DE GRUYTER & CO
PI BERLIN
PA GENTHINER STRASSE 13, D-10785 BERLIN, GERMANY
SN 1431-6730
J9 BIOL CHEM
JI Biol. Chem.
PD OCT
PY 2008
VL 389
IS 10
BP 1333
EP 1338
DI 10.1515/BC.2008.152
PG 6
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 359EL
UT WOS:000259969100011
PM 18713021
DA 2025-04-10
ER

PT J
AU Goursaud, C
   Mallet, D
   Janin, A
   Menassa, R
   Tardy-Guidollet, V
   Russo, G
   Lienhardt-Roussie, A
   Lecointre, C
   Plotton, I
   Morel, Y
   Roucher-Boulez, F
AF Goursaud, Claire
   Mallet, Delphine
   Janin, Alexandre
   Menassa, Rita
   Tardy-Guidollet, Veronique
   Russo, Gianni
   Lienhardt-Roussie, Anne
   Lecointre, Claudine
   Plotton, Ingrid
   Morel, Yves
   Roucher-Boulez, Florence
TI Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys
   Variant in CYP11A1 Gene
SO FRONTIERS IN ENDOCRINOLOGY
LA English
DT Article
DE CYP11A1; alternative splicing; adrenal insufficiency; disorders of sex
   development; congenital lipoid adrenal hyperplasia
ID CHAIN CLEAVAGE ENZYME; CONGENITAL ADRENAL INSUFFICIENCY; 46,XY SEX
   REVERSAL; MUTATIONS; PATIENT; P450SCC; HYPOSPADIAS
AB Context: The cholesterol side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associated with primary adrenal insufficiency (PAI) as well as disorders of sex development (DSD) in 46,XY patients.
   Objective: To define the pathogenicity mechanism for the p.G1u314Lys variant, previously reported, and found in four additional patients with CYP11A1 deficiency.
   Subjects and Methods: DNA of four patients presenting with delayed PAI and/or 46,XY DSD were studied by Sanger or Massively Parallel sequencing. Three CYP1 1A1 mutations were characterized in vitro and in silica, and one by mRNA analysis on testicular tissue.
   Results: All patients were compound heterozygous for the previously described p.G1u314Lys variant. In silico studies predicted this mutation as benign with no effect on splicing but mRNA analysis found that it led to incomplete exon 5 skipping. This mechanism was confirmed by minigene experiment. The protein carrying this mutation without exon skipping should conserve almost normal activity, according to in vitro studies. Two other mutations found in trans, the p.Arg120GIn and p.Arg465Trp, had similar activity compared to negative control, consistent with the in silico studies.
   Conclusions: We provide biological proof that the p. Glu314Lys variant is pathogenic due to its impact on splicing and seems responsible for the moderate phenotype of the four patients reported herein. The present study highlights the importance of considering the potential effect of a missense variant on splicing when it is not predicted to be disease causing.
C1 [Goursaud, Claire; Mallet, Delphine; Menassa, Rita; Tardy-Guidollet, Veronique; Plotton, Ingrid; Morel, Yves; Roucher-Boulez, Florence] Hosp Civils Lyon, Grp Hosp Est, UM Pathol Endocriniennes Renales Musculaires & Mu, Lab Biochim & Biol Mol Grand Est, Bron, France.
   [Mallet, Delphine; Menassa, Rita; Tardy-Guidollet, Veronique; Plotton, Ingrid; Morel, Yves; Roucher-Boulez, Florence] Ctr Reference Dev Genital Fetus Adulte, Filiere Malad Rares Endocriniennes, Bron, France.
   [Janin, Alexandre; Tardy-Guidollet, Veronique; Plotton, Ingrid; Morel, Yves; Roucher-Boulez, Florence] Univ Claude Bernard Lyon 1, Univ Lyon, Lyon, France.
   [Janin, Alexandre] Hosp Civils Lyon, Grp Hosp Est, UM Cardiogenet Mol, Lab Biochim & Biol Mol Grand Est, Bron, France.
   [Janin, Alexandre] Univ Lyon 1, Inst NeuroMyoGene, CNRS, UMR 5310,INSERM,U1217, Lyon, France.
   [Russo, Gianni] Osped San Raffaele, Ctr Endocrinol Infanzia & Adolescenza, Milan, Italy.
   [Lienhardt-Roussie, Anne] CHU Limoges, Hop Mere & Enfant, Serv Pediat Med, Limoges, France.
   [Lecointre, Claudine] CHU Charles Nicolle, Serv Pediat Med, Rouen, France.
C3 CHU Lyon; Universite Claude Bernard Lyon 1; CHU Lyon; Centre National de
   la Recherche Scientifique (CNRS); CNRS - National Institute for Biology
   (INSB); Universite Claude Bernard Lyon 1; Institut National de la Sante
   et de la Recherche Medicale (Inserm); Vita-Salute San Raffaele
   University; IRCCS Ospedale San Raffaele; CHU Limoges; Universite de
   Rouen Normandie; CHU de Rouen
RP Goursaud, C (corresponding author), Hosp Civils Lyon, Grp Hosp Est, UM Pathol Endocriniennes Renales Musculaires & Mu, Lab Biochim & Biol Mol Grand Est, Bron, France.
EM claire.goursaud@chu-lyon.fr
RI JANIN, Alexandre/U-7423-2018; PLOTTON, Ingrid/L-2742-2014; Roucher
   Boulez, Florence/B-3700-2016
OI Roucher Boulez, Florence/0000-0001-8078-4746
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NR 28
TC 19
Z9 22
U1 0
U2 3
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-2392
J9 FRONT ENDOCRINOL
JI Front. Endocrinol.
PD SEP 5
PY 2018
VL 9
AR 491
DI 10.3389/fendo.2018.00491
PG 9
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA GS5RA
UT WOS:000443725000001
PM 30233493
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Marden, JH
   Fitzhugh, GH
   Girgenrath, M
   Wolf, MR
   Girgenrath, S
AF Marden, JH
   Fitzhugh, GH
   Girgenrath, M
   Wolf, MR
   Girgenrath, S
TI Alternative splicing, muscle contraction and intraspecific variation::
   associations between troponin T transcripts, Ca<SUP>2+</SUP> sensitivity
   and the force and power output of dragonfly flight muscles during
   oscillatory contraction
SO JOURNAL OF EXPERIMENTAL BIOLOGY
LA English
DT Article
DE dragonfly; insect flight muscle; work loop; skinned fiber; Ca2+
   sensitivity; cooperativity; troponin T; alternative splicing; Libellula
   pulchella
ID HUMAN CARDIAC TROPONIN; HYPERTROPHIC CARDIOMYOPATHY; MESSENGER-RNA;
   DROSOPHILA-MELANOGASTER; NEURONAL CONTROL; THIN-FILAMENTS; EXPRESSION;
   ISOFORMS; TEMPERATURE; MUTATIONS
AB The flight muscles of Libellula pulchella dragonflies contain a mixture of six alternatively spliced transcripts of a single troponin T (TnT) gene. Here, we examine how intraspecific variation in the relative abundance of different TnT transcripts affects the Ca2+ sensitivity of skinned muscle fibers and the performance of intact muscles during work-loop contraction regimes that approximate in vivo conditions during flight. The relative abundance of one TnT transcript, or the pooled relative abundance of two TnT transcripts, showed a positive correlation with a 10-fold range of variation in Ca2+ sensitivity of skinned fibers (r(2)=0.77, P <0.0001) and a threefold range in peak specific force (r(2)=0.74, P <0.0001), specific work per cycle (r(2)=0.54; P <0.0001) and maximum specific power output (r(2)=0.48, P=0.0005) of intact muscle. Using these results to reanalyze previously published data for wing kinematics during free flight, we show that the relative abundances of these particular transcripts are also positively correlated with wingbeat frequency and amplitude. TnT variation alone may be responsible for these effects, or TnT variation may be a marker for changes in a suite of co-regulated molecules. Dragonflies from two ponds separated by 16 km differed significantly in both TnT transcript composition and muscle contractile performance, and within each population there are two distinct morphs that showed different maturational trajectories of TnT transcript composition and muscle contractility. Thus, there is broad intraspecific variability and a high degree of population structure for contractile performance phenotypes, TnT ribotypes and ontogenetic patterns involving these traits that affect locomotor performance.
C1 Penn State Univ, Dept Biol, Mueller Lab 208, University Pk, PA 16802 USA.
C3 Pennsylvania Commonwealth System of Higher Education (PCSHE);
   Pennsylvania State University; Pennsylvania State University -
   University Park; Penn State Behrend
RP Penn State Univ, Dept Biol, Mueller Lab 208, University Pk, PA 16802 USA.
EM jhm10@psu.edu
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NR 52
TC 53
Z9 58
U1 0
U2 14
PU COMPANY BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING, STATION RD, HISTON, CAMBRIDGE CB24 9LF, ENGLAND
SN 0022-0949
EI 1477-9145
J9 J EXP BIOL
JI J. Exp. Biol.
PD OCT
PY 2001
VL 204
IS 20
BP 3457
EP 3470
PG 14
WC Biology; Zoology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Life Sciences & Biomedicine - Other Topics; Zoology
GA 487RJ
UT WOS:000171888800005
PM 11707496
DA 2025-04-10
ER

PT J
AU Hirano, E
   Knutsen, RH
   Sugitani, H
   Ciliberto, CH
   Mecham, RP
AF Hirano, Eiichi
   Knutsen, Russell H.
   Sugitani, Hideki
   Ciliberto, Christopher H.
   Mecham, Robert P.
TI Functional rescue of elastin insufficiency in mice by the human elastin
   gene - Implications for mouse models of human disease
SO CIRCULATION RESEARCH
LA English
DT Article
DE elastin; supravalvular aortic stenosis; vascular disease; transgenic
   mice
ID SUPRAVALVULAR AORTIC-STENOSIS; EXTRACELLULAR-MATRIX; TROPOELASTIN GENE;
   MESSENGER-RNA; CUTIS LAXA; EXPRESSION; EXON; DEPOSITION; MUTATION;
   HAPLOINSUFFICIENCY
AB Diseases linked to the elastin gene arise from loss-of-function mutations leading to protein insufficiency (supravalvular aortic stenosis) or from missense mutations that alter the properties of the elastin protein (dominant cutis laxa). Modeling these diseases in mice is problematic because of structural differences between the human and mouse genes. To address this problem, we developed a humanized elastin mouse with elastin production being controlled by the human elastin gene in a bacterial artificial chromosome. The temporal and spatial expression pattern of the human transgene mirrors the endogenous murine gene, and the human gene accurately recapitulates the alternative-splicing pattern found in humans. Human elastin protein interacts with mouse elastin to form functional elastic fibers and when expressed in the elastin haploinsufficient background reverses the hypertension and cardiovascular changes associated with that phenotype. Elastin from the human transgene also rescues the perinatal lethality associated with the null phenotype. The results of this study confirm that reestablishing normal elastin levels is a logical objective for treating diseases of elastin insufficiency such as supravalvular aortic stenosis. This study also illustrates how differences in gene structure and alternative splicing present unique problems for modeling human diseases in mice.
C1 Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA.
C3 Washington University (WUSTL)
RP Mecham, RP (corresponding author), Washington Univ, Sch Med, Dept Cell Biol & Physiol, Campus Box 8228, St Louis, MO 63110 USA.
EM bmecham@wustl.edu
FU NHLBI NIH HHS [HL74138, HL53325] Funding Source: Medline
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NR 37
TC 76
Z9 97
U1 0
U2 5
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD AUG 31
PY 2007
VL 101
IS 5
BP 523
EP 531
DI 10.1161/CIRCRESAHA.107.153510
PG 9
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 205ZZ
UT WOS:000249155000013
PM 17626896
DA 2025-04-10
ER

PT J
AU Bogaert, E
   Garde, A
   Gautier, T
   Rooney, K
   Duffourd, Y
   LeBlanc, P
   van Reempts, E
   Mau-Them, FT
   Wentzensen, IM
   Au, KS
   Richardson, K
   Northrup, H
   Gatinois, V
   Geneviève, D
   Louie, RJ
   Lyons, MJ
   Laulund, LW
   Brasch-Andersen, C
   Juul, TM
   El It, F
   Marle, N
   Callier, P
   Relator, R
   Haghshenas, S
   McConkey, H
   Kerkhof, J
   Cesario, C
   Novelli, A
   Brunetti-Pierri, N
   Pinelli, M
   Pennamen, P
   Naudion, S
   Legendre, M
   Courdier, C
   Trimouille, A
   Fenzy, MD
   Pais, L
   Yeung, ALS
   Nugent, K
   Roeder, ER
   Mitani, T
   Posey, JE
   Calame, D
   Yonath, H
   Rosenfeld, JA
   Musante, L
   Faletra, F
   Montanari, F
   Sartor, G
   Vancini, A
   Seri, M
   Besmond, C
   Poirier, K
   Hubert, L
   Hemelsoet, D
   Munnich, A
   Lupski, JR
   Philippe, C
   Thauvin-Robinet, C
   Faivre, L
   Sadikovic, B
   Govin, J
   Dermaut, B
   Vitobello, A
AF Bogaert, Elke
   Garde, Aurore
   Gautier, Thierry
   Rooney, Kathleen
   Duffourd, Yannis
   LeBlanc, Pontus
   van Reempts, Emma
   Mau-Them, Frederic Tran
   Wentzensen, Ingrid M.
   Au, Kit Sing
   Richardson, Kate
   Northrup, Hope
   Gatinois, Vincent
   Genevieve, David
   Louie, Raymond J.
   Lyons, Michael J.
   Laulund, Lone Walentin
   Brasch-Andersen, Charlotte
   Juul, Trine Maxel
   El It, Fatima
   Marle, Nathalie
   Callier, Patrick
   Relator, Raissa
   Haghshenas, Sadegheh
   McConkey, Haley
   Kerkhof, Jennifer
   Cesario, Claudia
   Novelli, Antonio
   Brunetti-Pierri, Nicola
   Pinelli, Michele
   Pennamen, Perrine
   Naudion, Sophie
   Legendre, Marine
   Courdier, Cecile
   Trimouille, Aurelien
   Fenzy, Martine Doco
   Pais, Lynn
   Yeung, Alison
   Nugent, Kimberly
   Roeder, Elizabeth R.
   Mitani, Tadahiro
   Posey, Jennifer E.
   Calame, Daniel
   Yonath, Hagith
   Rosenfeld, Jill A.
   Musante, Luciana
   Faletra, Flavio
   Montanari, Francesca
   Sartor, Giovanna
   Vancini, Alessandra
   Seri, Marco
   Besmond, Claude
   Poirier, Karine
   Hubert, Laurence
   Hemelsoet, Dimitri
   Munnich, Arnold
   Lupski, James R.
   Philippe, Christophe
   Thauvin-Robinet, Christel
   Faivre, Laurence
   Sadikovic, Bekim
   Govin, Jerome
   Dermaut, Bart
   Vitobello, Antonio
TI SRSF1 haploinsufficiency is responsible for a syndromic
   developmental disorder associated with intellectual disability
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID DNA METHYLATION SIGNATURE; SPLICING FACTORS; GENE-EXPRESSION; SR
   PROTEINS; RNA; MICRODELETION; IDENTIFICATION; PHENOTYPE; DIAGNOSIS;
   VARIANTS
AB SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of this proto-oncogene in mice is embryonically lethal. Through international data sharing, we identified 17 individuals (10 females and 7 males) with a neuro-developmental disorder (NDD) with heterozygous germline SRSF1 variants, mostly de novo, including three frameshift variants, three nonsense variants, seven missense variants, and two microdeletions within region 17q22 encompassing SRSF1. Only in one family, the de novo origin could not be established. All individuals featured a recurrent phenotype including developmental delay and intellec-tual disability (DD/ID), hypotonia, neurobehavioral problems, with variable skeletal (66.7%) and cardiac (46%) anomalies. To investi-gate the functional consequences of SRSF1 variants, we performed in silico structural modeling, developed an in vivo splicing assay in Drosophila, and carried out episignature analysis in blood-derived DNA from affected individuals. We found that all loss-of-function and 5 out of 7 missense variants were pathogenic, leading to a loss of SRSF1 splicing activity in Drosophila, correlating with a detectable and specific DNA methylation episignature. In addition, our orthogonal in silico, in vivo, and epigenetics analyses enabled the separation of clearly pathogenic missense variants from those with uncertain significance. Overall, these results indicated that haploinsufficiency of SRSF1 is responsible for a syndromic NDD with ID due to a partial loss of SRSF1-mediated splicing activity.
C1 [Bogaert, Elke; LeBlanc, Pontus; van Reempts, Emma; Dermaut, Bart] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium.
   [Bogaert, Elke; LeBlanc, Pontus; van Reempts, Emma; Dermaut, Bart] Univ Ghent, Fac Med & Hlth Sci, Dept Biomol Med, B-9000 Ghent, Belgium.
   [Garde, Aurore; Duffourd, Yannis; Mau-Them, Frederic Tran; El It, Fatima; Callier, Patrick; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Vitobello, Antonio] Univ Bourgogne, Inserm, UMR1231, GAD, Dijon, France.
   [Garde, Aurore] CHU Dijon Bourgogne, Ctr Genet, Ctr Reference Malad Rares Anomalies Dev & Syndrome, FHU TRANSLAD, F-21000 Dijon, France.
   [Gautier, Thierry; Govin, Jerome] Univ Grenoble Alpes, Inst Adv Biosci IAB, CNRS, Inserm,U1209,UMR 5309, F-38000 Grenoble, France.
   [Rooney, Kathleen; McConkey, Haley; Sadikovic, Bekim] Western Univ, Dept Pathol & Lab Med, London, ON N5A 3K7, Canada.
   [Rooney, Kathleen; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Sadikovic, Bekim] London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON N6A 5W9, Canada.
   [Duffourd, Yannis; Mau-Them, Frederic Tran; Philippe, Christophe; Thauvin-Robinet, Christel; Vitobello, Antonio] CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost genom Malad rares, FHU TRANSLAD, F-21000 Dijon, France.
   [Wentzensen, Ingrid M.] GeneDx, Gaithersburg, MD USA.
   [Au, Kit Sing; Richardson, Kate; Northrup, Hope] Univ Texas Hlth Sci Ctr Houston UTHlth Houston, Dept Pediat, Div Med Genet, McGovern Med Sch, Houston, TX USA.
   [Au, Kit Sing; Richardson, Kate; Northrup, Hope] Childrens Mem Hermann Hosp, Houston, TX USA.
   [Gatinois, Vincent] CHU Montpellier, Unite Genet Chromos, Montpellier, France.
   [Genevieve, David] Montpellier Univ, Inserm, U1183, Montpellier, France.
   [Genevieve, David] Montpellier Hosp, Reference Ctr rare Dis Dev anomaly malformat syndr, Dept Med Genet, Montpellier, France.
   [Louie, Raymond J.; Lyons, Michael J.] Greenwood Genet Ctr, Greenwood, SC USA.
   [Laulund, Lone Walentin] Odense Univ Hosp, Dept Paediat, Odense, Denmark.
   [Brasch-Andersen, Charlotte; Juul, Trine Maxel] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark.
   [Brasch-Andersen, Charlotte] Univ Southern Denmark, Hlth Fac, Dept Clin Res, Human Genet, DK-5000 Odense, Denmark.
   [Marle, Nathalie; Callier, Patrick] CHU Dijon, Lab Genet Chromos & Mol, Pole Biol, Dijon, France.
   [Cesario, Claudia; Novelli, Antonio] Bambino GesuChildrens Hosp, IRCCS, Translat Cytogen Res Unit, Rome, Italy.
   [Brunetti-Pierri, Nicola; Pinelli, Michele] Telethon Inst Genet & Med, Pozzuoli, Italy.
   [Brunetti-Pierri, Nicola; Pinelli, Michele] Univ Naples Federico II, Dept Translat Med, Naples, Italy.
   [Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cecile] CHU Bordeaux, Med Genet Dept, Bordeaux, France.
   [Trimouille, Aurelien] Bordeaux Univ, Lab MRGM, INSERM, U1211, Bordeaux, France.
   [Trimouille, Aurelien] CHU Bordeaux, Pathol Dept, Bordeaux, France.
   [Fenzy, Martine Doco] CHU Reims, Serv genet, Reims, France.
   [Fenzy, Martine Doco] CHU Nantes, Serv genet med, Nantes, France.
   [Fenzy, Martine Doco] UNIV Nantes, Inst thorax, INSERM, CNRS,CHU Nantes, Nantes, France.
   [Pais, Lynn] Broad Inst MIT & Harvard, Broad Ctr Mendelian Genom, Program Med & Populat Genet, Cambridge, MA USA.
   [Yeung, Alison] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia.
   [Nugent, Kimberly; Roeder, Elizabeth R.] Baylor Coll Med, Dept Pediat, San Antonio, TX USA.
   [Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer E.; Calame, Daniel; Lupski, James R.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA.
   [Calame, Daniel] Baylor Coll Med, Dept Pediat, Sect Pediat Neurol & Dev Neurosci, Houston, TX USA.
   [Lupski, James R.] Texas Childrens Hosp, Houston, TX USA.
   [Yonath, Hagith] Sheba Med Ctr, Danek Gertner Inst Human Genet, Internal Med A, Ramat Gan, Israel.
   [Yonath, Hagith] Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel.
   [Rosenfeld, Jill A.] Baylor Genet Labs, Houston, TX USA.
   [Musante, Luciana; Faletra, Flavio] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy.
   [Montanari, Francesca; Sartor, Giovanna; Seri, Marco] IRCCS Azienda Osped Univ Bologna, UO Genet Med, Bologna, Italy.
   [Vancini, Alessandra] Maggiore Hosp, Neonatal Intens Care Unit, Bologna, Italy.
   [Seri, Marco] Univ Bologna, Dept Med & Surg Sci, Bologna, Italy.
   [Besmond, Claude; Poirier, Karine; Hubert, Laurence; Munnich, Arnold] Univ Paris Cite, Imagine Inst, INSERM, UMR1163, F-75015 Paris, France.
   [Hemelsoet, Dimitri] Ghent Univ Hosp, Dept Neurol, B-9000 Ghent, Belgium.
   [Lupski, James R.] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX USA.
   [Thauvin-Robinet, Christel] CHU Dijon Bourgogne, Ctr Reference Malad Rares Deficiences intellectuel, Ctr Genet, FHU TRANSLAD, Dijon, France.
C3 Ghent University; Ghent University Hospital; Ghent University; Institut
   Agro; AgroSup Dijon; Institut National de la Sante et de la Recherche
   Medicale (Inserm); Universite de Bourgogne; CHU Dijon Bourgogne;
   Communaute Universite Grenoble Alpes; Universite Grenoble Alpes (UGA);
   Institut National de la Sante et de la Recherche Medicale (Inserm);
   Centre National de la Recherche Scientifique (CNRS); CNRS - National
   Institute for Biology (INSB); Western University (University of Western
   Ontario); London Health Sciences Centre; CHU Dijon Bourgogne; Universite
   de Bourgogne; Institut Agro; AgroSup Dijon; Universite de Montpellier;
   CHU de Montpellier; Institut National de la Sante et de la Recherche
   Medicale (Inserm); Universite de Montpellier; Universite de Montpellier;
   CHU de Montpellier; Greenwood Genetic Center; University of Southern
   Denmark; Odense University Hospital; University of Southern Denmark;
   Odense University Hospital; University of Southern Denmark; CHU Dijon
   Bourgogne; Fondazione Telethon; Telethon Institute of Genetics &
   Medicine (TIGEM); University of Naples Federico II; CHU Bordeaux;
   Universite de Bordeaux; Institut National de la Sante et de la Recherche
   Medicale (Inserm); CHU Bordeaux; Universite de Bordeaux; Universite de
   Reims Champagne-Ardenne; CHU de Reims; Nantes Universite; CHU de Nantes;
   Institut National de la Sante et de la Recherche Medicale (Inserm);
   Nantes Universite; CHU de Nantes; Centre National de la Recherche
   Scientifique (CNRS); Harvard University; Massachusetts Institute of
   Technology (MIT); Broad Institute; Murdoch Children's Research
   Institute; Victorian Clinical Genetics Services; Baylor College of
   Medicine; Baylor College of Medicine; Baylor College of Medicine; Baylor
   College of Medicine; Baylor College Medical Hospital; Chaim Sheba
   Medical Center; Tel Aviv University; Sackler Faculty of Medicine; IRCCS
   Burlo Garofolo; IRCCS Azienda Ospedaliero-Universitaria di Bologna; AUSL
   di Bologna; University of Bologna; Institut National de la Sante et de
   la Recherche Medicale (Inserm); Universite Paris Cite; Ghent University;
   Ghent University Hospital; Baylor College of Medicine; CHU Dijon
   Bourgogne
RP Dermaut, B (corresponding author), Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium.; Dermaut, B (corresponding author), Univ Ghent, Fac Med & Hlth Sci, Dept Biomol Med, B-9000 Ghent, Belgium.; Vitobello, A (corresponding author), Univ Bourgogne, Inserm, UMR1231, GAD, Dijon, France.; Vitobello, A (corresponding author), CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost genom Malad rares, FHU TRANSLAD, F-21000 Dijon, France.
EM bart.dermaut@ugent.be; antonio.vitobello@u-bourgogne.fr
RI Posey, Jennifer/J-3048-2019; Cesario, Claudia/AAA-6152-2020; Calame,
   Daniel/Y-6060-2019; GATINOIS, VINCENT/AAA-1196-2019; Van Reempts,
   Emma/KFS-0734-2024; Relator, Raissa/A-6399-2017; rossi,
   francesca/S-8416-2019; BESMOND, Claude/L-8451-2018; Brunetti-Pierri,
   Nicola/K-8465-2016; Bogaert, Elke/HNP-2881-2023; Trimouille,
   Aurelien/KSM-0596-2024; Vitobello, Antonio/ABC-2970-2021; Novelli,
   Antonio/K-4035-2016; Faletra, Flavio/KVY-8035-2024; POIRIER,
   Karine/N-3009-2018; Govin, Jerome/B-2326-2014; Musante,
   Luciana/AAA-5726-2021
OI POIRIER, Karine/0000-0002-7928-2906; Andersen, Charlotte
   Brasch/0000-0003-4273-0047; Van Reempts, Emma/0009-0009-8527-242X;
   Faletra, Flavio/0000-0003-1483-3612; Faivre,
   Laurence/0000-0001-9770-444X; Govin, Jerome/0000-0001-5511-6965;
   Novelli, Antonio/0000-0002-9037-4297; Bogaert, Elke/0009-0009-7199-9222;
   Musante, Luciana/0000-0002-2742-1484; EL IT, Fatima/0009-0003-6817-6205;
   Hemelsoet, Dimitri/0000-0001-5403-3092; Montanari,
   Francesca/0009-0006-3370-601X; Vitobello, Antonio/0000-0003-3717-8374;
   LeBlanc, Pontus Benjamin Scott/0009-0009-3679-2170
FU Dijon University Hospital; ISITE-BFC (PIA ANR); European Union; Research
   Foundation Flanders [779257]; Ghent University Special Research Fund
   [3G0H8318]; U.S. NIH BHCMG; GREGoR [01N10319, HG006542]; U.S. NIH NINDS
   [HG011758]; French Ministry of Health [NS105078]; National Human Genome
   Research Institute [R01 HG009141]; National Eye Institute; National
   Heart, Lung, and Blood Institute [2008-A00515-50]; Solve-RD project
   within the European Rare Disease Models amp; Mechanisms Network
   (RDMM-Europe); government of Canada through Genome Canada; Ontario
   Genomics Institute [OGI-188];  [UM1 HG008900]
FX This work was supported by grants from Dijon University Hospital, the
   ISITE-BFC (PIA ANR) , the European Union through the FEDER programs, an
   Odysseus type 1 grant of the Research Foundation Flanders (3G0H8318) , a
   starting grant from the Ghent University Special Research Fund
   (01N10319) , the U.S. NIH BHCMG and the GREGoR grants (HG006542 and
   HG011758) , and U.S. NIH NINDS R35 (NS105078) . Individual 4 was part of
   PHRC national 2008-A00515-50, funded by the French Ministry of Health.
   Sequencing and analysis of individual 8 was provided by the Broad
   Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG)
   and was funded by the National Human Genome Research Institute, the
   National Eye Institute, and the National Heart, Lung, and Blood
   Institute grant UM1 HG008900 and in part by National Human Genome
   Research Institute grant R01 HG009141. The results reported here were
   generated using funding received from the Solve-RD project within the
   European Rare Disease Models & amp; Mechanisms Network (RDMM-Europe) .
   The Solve-RD project (https://solve-rd.eu/) has received funding from
   the European Union's Horizon 2020 research and innovation program under
   grant agreement no. 779257. Several authors of this publication are
   members of the European Reference Network (ERN) for Developmental
   Anomalies and Intellectual Disability (ERN-ITHACA) and Rare Neurological
   Diseases (ERN-RND) . DNA methylation work was funded by the government
   of Canada through Genome Canada and the Ontario Genomics Institute
   (OGI-188) . The authors thank the families for participating and
   supporting this study. We thank the "Centre de Ressources Biologiques
   Ferdinand Cabanne" (CHU Dijon) for sample biobanking.
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NR 67
TC 17
Z9 17
U1 2
U2 3
PU CELL PRESS
PI CAMBRIDGE
PA 50 HAMPSHIRE ST, FLOOR 5, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD MAY 4
PY 2023
VL 110
IS 5
BP 790
EP 808
DI 10.1016/j.ajhg.2023.03.016
EA MAY 2023
PG 20
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA N6OP9
UT WOS:001038185000001
PM 37071997
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Gerzanich, V
   Ivanov, A
   Ivanova, S
   Yang, JB
   Zhou, H
   Dong, YF
   Simard, JM
AF Gerzanich, V
   Ivanov, A
   Ivanova, S
   Yang, JB
   Zhou, H
   Dong, YF
   Simard, JM
TI Alternative splicing of cGMP-dependent protein kinase I in
   angiotensin-hypertension - Novel mechanism for nitrate tolerance in
   vascular smooth muscle
SO CIRCULATION RESEARCH
LA English
DT Article
DE nitrate tolerance; cGMP-dependent protein kinase I; alternative
   splicing; angiotensin II; vascular smooth muscle
ID CYCLIC-GMP; NITRIC-OXIDE; MEDIATED VASORELAXATION; UP-REGULATION;
   CHANNELS; EXPRESSION; ACTIVATION; CELLS; PHOSPHORYLATION; RELAXATION
AB Nitrate tolerance (NT) in hypertension is attributed to reduced activity of soluble guanylyl cyclase (sGC). We examined NT in basilar artery vascular smooth muscle cells (VSMCs) from control rats, rats infused with angiotensin II (Ang; 240 mug/kg per hour for 4 days), which were normotensive, and Ang-hypertensive rats (AHR; 240 mug/kg per hour for 28 days). Ca2+-activated K+ (Maxi-K) channels in VSMCs from AHR showed reduced activation by NO donor, consistent with NT. The concentration-response relationship for 8-Br-cGMP was shifted 2.5-fold to the right, indicating that abnormal sGC alone could not account for NT. Inside-out patches from AHR showed normal activation with exogenous cGMP-dependent protein kinase I (cGKI), suggesting no abnormality downstream of cGKI. We hypothesized that the reduction in apparent affinity of 8-Br-cGMP for cGKI in AHR might be due to a change in relative amounts of cGKIalpha versus cGKIbeta, since cGKIbeta is less sensitive to cGMP activators than cGKIbeta. This was substantiated by showing the following in AHR: (1) reduced effect of the cGKIalpha-selective activator 8-APT-cGMP; (2) reduced total cGKI protein (both isoforms), but an increase in cGKIbeta protein in quantitative immunofluorescence and Western blots; (3) similar changes in cGKI isoforms immunoisolated with Maxi-K channels; and (4) a large increase in cGKIbeta mRNA and a decrease in cGKIalpha mRNA in real-time PCR and Northern blots. Upregulation of cytosolic cGKIbeta was evident 4 days after Ang infusion, before development of hypertension. Our data identify a functional role for cGKIbeta in VSMCs previously ascribed exclusively to cGKIalpha. Ang-induced alternative splicing of cGKI represents a novel mechanism for reducing sensitivity to NO/cGMP.
C1 Univ Maryland, Dept Neurosurg, Baltimore, MD 21201 USA.
   Univ Maryland, Dept Pathol, Baltimore, MD 21201 USA.
   Univ Maryland, Dept Physiol, Baltimore, MD 21201 USA.
C3 University System of Maryland; University of Maryland Baltimore;
   University System of Maryland; University of Maryland Baltimore;
   University System of Maryland; University of Maryland Baltimore
RP Simard, JM (corresponding author), Univ Maryland, Dept Neurosurg, 22 S Greene St,Suite 12SD, Baltimore, MD 21201 USA.
FU NHLBI NIH HHS [HL51932] Funding Source: Medline; NINDS NIH HHS [NS39956]
   Funding Source: Medline
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NR 28
TC 27
Z9 31
U1 0
U2 3
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0009-7330
J9 CIRC RES
JI Circ.Res.
PD OCT 31
PY 2003
VL 93
IS 9
BP 805
EP 812
DI 10.1161/01.RES.0000097872.69043.A0
PG 8
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 738EM
UT WOS:000186273800005
PM 14512447
OA Bronze, Green Submitted
DA 2025-04-10
ER

PT J
AU Bugeon, L
   Wong, KK
   Rankin, AM
   Hargreaves, REG
   Dallman, MJ
AF Bugeon, Laurence
   Wong, Kenneth K.
   Rankin, Alasdair M.
   Hargreaves, Roseanna E. G.
   Dallman, Margaret J.
TI A negative regulatory role in mouse cardiac transplantation for a splice
   variant of CD80
SO TRANSPLANTATION
LA English
DT Article
DE costimulation; CD80; B7; alternative splicing; tolerance
ID T-CELL-ACTIVATION; COSTIMULATORY MOLECULE; ALLOGRAFT-REJECTION; B7-1
   CD80; AUTOIMMUNE-DISEASE; SYNOVIAL-FLUID; EXPRESSION; CTLA-4; MICE;
   DONOR
AB Background. Members of the B7 costimulatory protein family (CD80 and CD86) play a determining role in allograft rejection. Both CD80 and CD86 have naturally occurring splice variants whose roles in transplantation are unknown. Full length CD80 has two immunoglobulin (Ig)-like domains in the extracellular portion, IgC and IgV. In mouse, the isoform IgV-CD80 lacks the IgC-like domain. Here we analyzed the role of mouse IgV-CD80 in heart allograft rejection and search for equivalent splice variants in human.
   Methods. Mice made deficient for full-length CD80 but which retain expression of the shorter IgV-CD80 (CD80(IgV/IgV) mice) were used as donor or recipient of a heart allograft. Recipient animals were untreated or pretreated with alloantigen expressing cells and/or treated with CD80 and CTLA4 monoclonal antibodies (mAbs).
   Results. Recipients expressing IgV-CD80 but not full length CD80 exhibited a slight prolongation in survival of either wild-type (Wt) or CD80(IgV/IgV) grafts. More dramatically, CD80(IgV/IgV) animals pretreated with donor alloantigen exhibited permanent graft survival, whereas their Wt counterparts rejected their grafts with a median survival of 24 days. This prolonged survival was due to the expression of IgV-CD80 in recipients since treatment with CD80 mAb abrogated the beneficial effect observed. We identified and report here a similar isoform of CD80 from human cDNA encoding a putative soluble, IgV-containing protein.
   Conclusions. IgV-CD80 bearing recipients show enhanced allograft survival especially after donor alloantigen pretreatment. This together with data from other species suggests that regulation delivered by splice variants of CD80 significantly modulates immunity and may be common across the species.
C1 Univ London Imperial Coll Sci Technol & Med, Div Cell & Mol Biol, Sect Immunol & Infect, London SW7 2AZ, England.
   Univ London Imperial Coll Sci Technol & Med, Div Cell & Mol Biol, CMMI, London SW7 2AZ, England.
C3 Imperial College London; Imperial College London
RP Bugeon, L (corresponding author), Univ London Imperial Coll Sci Technol & Med, Div Cell & Mol Biol, Sect Immunol & Infect, London SW7 2AZ, England.
EM l.bugeon@imperial.ac.uk; m.dallman@imperial.ac.uk
RI Wong, Kenneth/B-9920-2008
OI Bugeon, Laurence/0000-0002-6978-2878; Dallman,
   Margaret/0000-0002-9079-3344
FU Wellcome Trust Funding Source: Medline
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NR 37
TC 4
Z9 4
U1 0
U2 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0041-1337
J9 TRANSPLANTATION
JI Transplantation
PD NOV 27
PY 2006
VL 82
IS 10
BP 1334
EP 1341
DI 10.1097/01.tp.0000239343.01775.54
PG 8
WC Immunology; Surgery; Transplantation
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Immunology; Surgery; Transplantation
GA 111OD
UT WOS:000242461500012
PM 17130783
OA Bronze
DA 2025-04-10
ER

PT J
AU Joly, AL
   Seitz, C
   Liu, S
   Kuznetsov, NV
   Gertow, K
   Westerberg, LS
   Paulsson-Berne, G
   Hansson, GK
   Andersson, J
AF Joly, Anne-Laure
   Seitz, Christina
   Liu, Sang
   Kuznetsov, Nikolai V.
   Gertow, Karl
   Westerberg, Lisa S.
   Paulsson-Berne, Gabrielle
   Hansson, Goran K.
   Andersson, John
TI Alternative Splicing of FOXP3 Controls Regulatory T Cell Effector
   Functions and Is Associated With Human Atherosclerotic Plaque Stability
SO CIRCULATION RESEARCH
LA English
DT Article
DE alternative splicing; atherosclerosis; cell lineage; inflammation;
   T-lymphocytes; transcription factors
ID GROWTH-FACTOR-BETA; TRANSCRIPTION FACTOR FOXP3; ROR-GAMMA-T; TGF-BETA;
   ACCELERATES ATHEROSCLEROSIS; CAROTID ATHEROSCLEROSIS; IN-VIVO;
   EXPRESSION; DIFFERENTIATION; VULNERABILITY
AB Rationale: Regulatory T (Treg) cells suppress immune responses and have been shown to attenuate atherosclerosis. The Treg cell lineage-specification factor FOXP3 (forkhead box P3) is essential for Treg cells' ability to uphold immunologic tolerance. In humans, FOXP3 exists in several different isoforms, however, their specific role is poorly understood.
   Objective: To define the regulation and functions of the 2 major FOXP3 isoforms, FOXP3fl and FOXP3 Delta 2, as well as to establish whether their expression is associated with the ischemic atherosclerotic disease.
   Methods and Results: Human primary T cells were transduced with lentiviruses encoding distinct FOXP3 isoforms. The phenotype and function of these cells were analyzed by flow cytometry, in vitro suppression assays and RNA-sequencing. We also assessed the effect of activation on Treg cells isolated from healthy volunteers. Treg cell activation resulted in increased FOXP3 expression that predominantly was made up of FOXP3 Delta 2. FOXP3 Delta 2 induced specific transcription of GARP (glycoprotein A repetitions predominant), which functions by tethering the immunosuppressive cytokine TGF (transforming growth factor)-beta to the cell membrane of activated Treg cells. Real-time polymerase chain reaction was used to determine the impact of alternative splicing of FOXP3 in relation with atherosclerotic plaque stability in a cohort of >150 patients that underwent carotid endarterectomy. Plaque instability was associated with a lower FOXP3 Delta 2 transcript usage, when comparing plaques from patients without symptoms and patients with the occurrence of recent (<1 month) vascular symptoms including minor stroke, transient ischemic attack, or amaurosis fugax. No difference was detected in total levels of FOXP3 mRNA between these 2 groups.
   Conclusions: These results suggest that activated Treg cells suppress the atherosclerotic disease process and that FOXP3 Delta 2 controls a transcriptional program that acts protectively in human atherosclerotic plaques.
C1 [Joly, Anne-Laure; Seitz, Christina; Liu, Sang; Andersson, John] Karolinska Inst, Immunol & Allergy Unit, Stockholm, Sweden.
   [Gertow, Karl; Paulsson-Berne, Gabrielle; Hansson, Goran K.] Karolinska Inst, Ctr Mol Med, Cardiovascular Med Unit, Stockholm, Sweden.
   [Kuznetsov, Nikolai V.; Westerberg, Lisa S.] Karolinska Inst, Dept Med Solna, Stockholm, Sweden.
   [Kuznetsov, Nikolai V.; Westerberg, Lisa S.] Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Stockholm, Sweden.
C3 Karolinska Institutet; Karolinska Institutet; Karolinska Institutet;
   Karolinska Institutet
RP Andersson, J (corresponding author), L2 04 Karolinska Univ Hosp, Karolinska Inst, Dept Med Solna, Immunol & Allergy Unit, S-17176 Stockholm, Sweden.
EM john.andersson@ki.se
RI Hansson, Goran/B-7423-2012; Westerberg, Lisa/AAB-3808-2019; Andersson,
   John/A-4436-2009; Kuznetsov, Nikolai/I-7622-2013
OI Andersson, John/0000-0003-2799-6349; Kuznetsov,
   Nikolai/0000-0003-3010-3927; Hansson, Goran/0000-0003-4148-5190;
   Westerberg, Lisa/0000-0003-2943-2192
FU Swedish Research Council [1851, 6816, 8703]; Swedish Heart-Lung
   Foundation; Karolinska Institutet; Foundation for Strategic Research;
   European Commission
FX This study was supported by the Swedish Research Council (grant numbers:
   1851, 6816, and Linnaeus support 8703), the Swedish Heart-Lung
   Foundation, Karolinska Institutet, the Foundation for Strategic
   Research, and the European Commission.
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NR 56
TC 51
Z9 57
U1 0
U2 15
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD MAY 11
PY 2018
VL 122
IS 10
BP 1385
EP 1394
DI 10.1161/CIRCRESAHA.117.312340
PG 10
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA GJ5FY
UT WOS:000435408100014
PM 29618596
DA 2025-04-10
ER

PT J
AU Renshaw, J
   Orr, RM
   Walton, MI
   Poele, RT
   Williams, RD
   Wancewicz, EV
   Monia, BP
   Workman, P
   Pritchard-Jones, K
AF Renshaw, J
   Orr, RM
   Walton, MI
   Poele, RT
   Williams, RD
   Wancewicz, EV
   Monia, BP
   Workman, P
   Pritchard-Jones, K
TI Disruption of WT1 gene expression and exon 5 splicing following
   cytotoxic drug treatment:: Antisense down-regulation of exon 5 alters
   target gene expression and inhibits cell survival
SO MOLECULAR CANCER THERAPEUTICS
LA English
DT Article
ID TUMOR-SUPPRESSOR GENE; PRE-MESSENGER-RNA; WILMS-TUMOR; TRANSCRIPTION
   FACTOR; BIOLOGICAL-PROPERTIES; EMBRYONAL CARCINOMA; ENDOTHELIAL-CELLS;
   RESIDUAL DISEASE; BREAST-CANCER; K562 CELLS
AB Deregulated expression of the Wilms' tumor gene (WT1) has been implicated in the maintenance of a malignant phenotype in leukemias and a wide range of solid tumors through interference with normal signaling in differentiation and apoptotic pathways. Expression of high levels of WT1 is associated with poor, prognosis in leukemias and breast cancer. Using real-time (Taqman) reverse transcription-PCR and RNase protection assay, we have shown up-regulation of WT1 expression following cytotoxic treatment of cells exhibiting drug resistance, a phenomenon not seen in sensitive cells. WT1 is subject to alternative splicing involving exon 5 and three amino acids (KTS) at the end of exon 9, producing four major isoforms. Exon 5 splicing was disrupted in all cell lines studied following a cytotoxic insult probably due to increased exon 5 skipping. Disruption of exon 5 splicing may be a proapoptotic signal because specific targeting of WT1 exon 5-containing transcripts using a nuclease-resistant antisense oligonucleotide (ASO) killed HL60 leukemia cells, which were resistant to an ASO targeting all four alternatively spliced transcripts simultaneously. K562 cells were sensitive to both target-specific ASOs. Gene expression profiling following treatment with WT1 exon 5-targeted antisense showed up-regulation of the known WT1 target gene, thrombospondin 1, in HL60 cells, which correlated with cell death. In addition, novel potential WT1 target genes were identified in each cell line. These studies highlight a new layer of complexity in the regulation and function of the WT1 gene product and suggest that antisense directed to WT1 exon 5 might have therapeutic potential.
C1 Inst Canc Res, Paediat Sect, Sutton SM2 5NG, Surrey, England.
   Inst Canc Res, Canc Res UK Ctr Canc Therapeut, Sutton SM2 5NG, Surrey, England.
   Isis Pharmaceut Inc, Carlsbad, CA USA.
C3 University of London; Institute of Cancer Research - UK; Cancer Research
   UK; University of London; Institute of Cancer Research - UK; Isis
   Pharmaceuticals Inc
RP Renshaw, J (corresponding author), Inst Canc Res, Paediat Sect, 15 Cotswold Rd, Sutton SM2 5NG, Surrey, England.
EM Jane.Renshaw@icr.ac.uk
RI Pritchard-Jones, Kathryn/F-4286-2014
OI Pritchard-Jones, Kathryn/0000-0002-2384-9475; te Poele,
   Robert/0009-0001-3596-6572
FU Cancer Research UK [11566] Funding Source: Medline
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NR 70
TC 32
Z9 35
U1 0
U2 3
PU AMER ASSOC CANCER RESEARCH
PI PHILADELPHIA
PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA
SN 1535-7163
J9 MOL CANCER THER
JI Mol. Cancer Ther.
PD NOV
PY 2004
VL 3
IS 11
BP 1467
EP 1483
PG 17
WC Oncology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology
GA 870PS
UT WOS:000225070800014
PM 15542786
DA 2025-04-10
ER

PT J
AU Bu, J
   Mahan, Y
   Zhang, YM
   Zhang, SN
   Wu, XX
   Zhang, XL
   Zhou, L
AF Bu, Juan
   Mahan, Yeledan
   Zhang, Yanmin
   Zhang, Shengnan
   Wu, Xuanxia
   Zhang, Xiaoling
   Zhou, Ling
TI RNA Sequencing Analyses Reveal the Potential Anti-Inflammatory
   Mechanisms of Acacetin Against ODG/R Injuries in Microglia
SO JOURNAL OF INFLAMMATION RESEARCH
LA English
DT Article
DE acacetin; ischemic stroke; inflammation; genome-wide analysis;
   differentially expressed genes; alternative splicing; long non-coding
   RNA; RNA sequencing
ID TRANSCRIPTS; SEQ
AB Background: Acacetin is a natural flavonoid known for its anti-tumor, antioxidant, and anti-inflammatory properties. Our previous studies have shown its protective effects against cerebral ischemia-reperfusion injury (IRI), but the underlying molecular mechanisms remain unclear. Purpose: The study delves into acacetin's mechanism in mitigating cerebral IRI, with a focus on transcriptomic insights. Methods: We established the oxygen-glucose deprivation/re-oxygenation (OGD/R) model in BV2 microglia, treating them with 10 mu M acacetin. Then we assessed cell proliferation using CCK-8 and measured Lactate Dehydrogenase (LDH) release. Highthroughput RNA sequencing (RNA-seq) underpinned the analysis of differentially expressed genes (DEGs) and long non-coding RNAs (lncRNAs), functional enrichment, and alternative splicing events (ASEs), validated by reverse transcription-quantitative polymerase chain reaction (RT-qPCR). Results: OGD/R injury significantly impaired cell proliferation and increased LDH release, effects mitigated by acacetin. RNA-seq identified 2148 upregulated and 2135 downregulated DEGs post-OGD/R. In contrast, the acacetin-treated group showed 248 upregulated and 240 downregulated DEGs compared to the OGD/R group. All DEGs were enriched in both Gene Ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Overlapping analysis indicated that acacetin treatment reversed the expression of 203 genes affected by OGD/R, including inflammation-related genes such as Isg15, Fcgr1, Il1b, and Parp12. Moreover, the oxidative stress-related gene, Mt2, was downregulated post-OGD/R but upregulated following acacetin treatment. We further found that OGD/R and acacetin treatment could modulate gene splicing events, impacting cell apoptosis or inflammatory responses, such as the A3SS splicing event in the Trim47 gene. RNA-seq also highlighted differential expression of numerous lncRNAs, particularly the upregulation of lncRNA Rmrp and Terc post-OGD/R and their subsequent downregulation post-acacetin treatment. These lncRNAs might regulate cell proliferation through mediating target gene expressions. RT-qPCR validation confirmed these findings. Conclusion: Significant upregulation of genes and ASEs linked to oxidative stress and inflammatory response is observed in cerebral IRI. Acacetin intervention reverses these effects, highlighting its mechanism in alleviating the injury by modulating gene expression and splicing events.
C1 [Bu, Juan; Mahan, Yeledan; Zhang, Shengnan; Wu, Xuanxia; Zhang, Xiaoling; Zhou, Ling] Peoples Hosp Xinjiang Uygur Autonomous Reg, Med & Translat Res Ctr, 91 Tianchi Rd, Urumqi 830001, Xinjiang, Peoples R China.
   [Zhang, Yanmin] Peoples Hosp Xinjiang Uygur Autonomous Reg, Sci Res & Educ Ctr, Urumqi, Xinjiang, Peoples R China.
RP Zhou, L (corresponding author), Peoples Hosp Xinjiang Uygur Autonomous Reg, Med & Translat Res Ctr, 91 Tianchi Rd, Urumqi 830001, Xinjiang, Peoples R China.
EM zlrmyy@sina.com
RI Bu, Juan/KQU-1143-2024; 周, 丽敏/JEO-3613-2023; Zhang, Yinyan/S-7675-2019
FU Natural Science Foundation of Xinjiang Uygur Autonomous Region
   [2020D01C095]; The "Tianshan Youth Project" of the Program for Fostering
   Excellent Young Talents in Science and Technology of Xinjiang Uygur
   Autonomous Region [2020Q046]
FX This work was supported by the Natural Science Foundation of Xinjiang
   Uygur Autonomous Region (Grant No. 2020D01C095) ; the "Tianshan Youth
   Project" of the Program for Fostering Excellent Young Talents in Science
   and Technology of Xinjiang Uygur Autonomous Region (Grant No. 2020Q046)
   .
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NR 34
TC 0
Z9 0
U1 1
U2 1
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
EI 1178-7031
J9 J INFLAMM RES
JI J. Inflamm. Res.
PY 2024
VL 17
BP 3641
EP 3652
DI 10.2147/JIR.S465093
PG 12
WC Immunology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Immunology
GA TT7Q0
UT WOS:001243578100001
PM 38855167
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Xue, ZG
   Cheraud, Y
   Brocheriou, V
   Izmiryan, A
   Titeux, M
   Paulin, D
   Li, Z
AF Xue, ZG
   Cheraud, Y
   Brocheriou, V
   Izmiryan, A
   Titeux, M
   Paulin, D
   Li, Z
TI The mouse synemin gene encodes three intermediate filament proteins
   generated by alternative exon usage and different open reading frames
SO EXPERIMENTAL CELL RESEARCH
LA English
DT Article
DE synemin; intermediate filaments; muscle; alternative splicing; reading
   frame
ID SKELETAL-MUSCLE; NEUROMUSCULAR-JUNCTIONS; VIMENTIN FILAMENTS;
   ALPHA-DYSTROBREVIN; DESMIN; ORGANIZATION; CELLS; MICE; NEUROFILAMENTS;
   IDENTIFICATION
AB We have previously cloned and characterized the human synemin gene, which encodes two intermediate filament proteins (IFPs). We now show that the mouse synemin gene encodes three different synemin isoforms through an alternative splicing mechanism. Two of them, synemin H and M are similar to human alpha and beta synemin, and the third isoform, L synemin, constitutes a new form of IFP. It has a typical rod domain and a short tail (49 residues) with a novel sequence that is produced by a different open reading frame. The synthesis of H/M synemins starts in the embryo, whereas the synemin L isoform is present in adult muscles. The H/M isoforms are bound to desmin or vimentin in the muscle cells of wild-type mice. Using desmin- and vimentin-deficient mice, we have obtained direct evidence that synemin is associated with muscle intermediate filaments in vivo. The organization of the synemin fibril is disrupted in skeletal and cardiac muscle when desmin is absent and in smooth muscle when vimentin is absent. The fact that the three synemin isoforms differ in the sequences of their tail domains as well as in their developmental patterns suggests that they fulfill different functions. (C) 2004 Elsevier Inc. All rights reserved.
C1 Univ Paris 07, Dept Biochem, F-75005 Paris, France.
C3 Universite Paris Cite
RP Xue, ZG (corresponding author), Univ Paris 07, Dept Biochem, Case 7136,2 Pl Jussieu, F-75005 Paris, France.
EM xue@ccr.jussieu.fr
RI Li, Zhenlin/GLS-1297-2022; Titeux, Matthias/K-8411-2017
OI Izmiryan, Araksya/0000-0002-6358-6980; Titeux,
   Matthias/0000-0001-7386-2769; LI, Zhenlin/0000-0002-3706-4505; XUE,
   Zhigang/0000-0002-8892-9660
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NR 32
TC 47
Z9 56
U1 0
U2 3
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0014-4827
J9 EXP CELL RES
JI Exp. Cell Res.
PD AUG 15
PY 2004
VL 298
IS 2
BP 431
EP 444
DI 10.1016/j.yexcr.2004.04.023
PG 14
WC Oncology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology; Cell Biology
GA 842EF
UT WOS:000222985300010
PM 15265691
DA 2025-04-10
ER

PT J
AU Driver, AM
   Peñagaricano, F
   Huang, W
   Ahmad, KR
   Hackbart, KS
   Wiltbank, MC
   Khatib, H
AF Driver, Ashley M.
   Penagaricano, Francisco
   Huang, Wen
   Ahmad, Khawaja R.
   Hackbart, Katie S.
   Wiltbank, Milo C.
   Khatib, Hasan
TI RNA-Seq analysis uncovers transcriptomic variations between
   morphologically similar in vivo- and in vitro-derived bovine blastocysts
SO BMC GENOMICS
LA English
DT Article
DE In vivo embryo; In vitro fertilization; RNA-Seq; Transcriptome;
   Alternative splicing
ID IN-VITRO; GENE-EXPRESSION; FERTILIZATION; CULTURE; SUPPLEMENTATION;
   METABOLISM; SYSTEM; MOUSE; OVINE
AB Background: A valuable tool for both research and industry, in vitro fertilization (IVF) has applications range from gamete selection and preservation of traits to cloning. Although IVF has achieved worldwide use, with approximately 339,685 bovine embryos transferred in 2010 alone, there are still continuing difficulties with efficiency. It is rare to have more than 40% of fertilized in vitro cattle oocytes reach blastocyst stage by day 8 of culture, and pregnancy rates are reported as less than 45% for in vitro produced embryos. To investigate potential influences in-vitro fertilization (IVF) has on embryonic development, this study compares in vivo-and in vitro-derived bovine blastocysts at a similar stage and quality grade (expanded, excellent quality) to determine the degree of transcriptomic variation beyond morphology using RNA-Seq.
   Results: A total of 26,906,451 and 38,184,547 fragments were sequenced for in vitro and in vivo embryo pools, respectively. We detected expression for a total of 17,634 genes, with 793 genes showing differential expression between the two embryo populations with false discovery rate (FDR) < 0.05. There were also 395 novel transcribed units found, of which 45 were differentially expressed (FDR < 0.05). In addition, 4,800 genes showed evidence of alternative splicing, with 873 genes displaying differential alternative splicing between the two pools (FDR < 0.05). Using GO enrichment analysis, multiple biological pathways were found to be significantly enriched for differentially expressed genes (FDR < 0.01), including cholesterol and sterol synthesis, system development, and cell differentiation.
   Conclusions: Thus, our results support that IVF may influence at the transcriptomic level and that morphology is limited in full characterization of bovine preimplantation embryos.
C1 [Penagaricano, Francisco; Khatib, Hasan] Univ Wisconsin, Dept Anim Sci, Madison, WI 53706 USA.
   [Driver, Ashley M.; Huang, Wen; Hackbart, Katie S.; Wiltbank, Milo C.] Univ Wisconsin, Dept Dairy Sci, Madison, WI 53706 USA.
   [Ahmad, Khawaja R.] Univ Sargodha, Dept Biol Sci, Sargodha, Pakistan.
C3 University of Wisconsin System; University of Wisconsin Madison;
   University of Wisconsin System; University of Wisconsin Madison;
   University of Sargodha
RP Khatib, H (corresponding author), Univ Wisconsin, Dept Anim Sci, Madison, WI 53706 USA.
EM hkhatib@wisc.edu
RI Huang, Wen/B-5005-2011; Ahmad, Khawaja/K-7970-2019; Khatib,
   Hasan/AAA-2693-2021; Wiltbank, Milo/B-1506-2010; Penagaricano,
   Francisco/C-8083-2015
OI Huang, Wen/0000-0001-6788-8364; Penagaricano,
   Francisco/0000-0001-6661-3991; Driver, Ashley/0009-0005-6035-1050
FU USDA Hatch from the University of Wisconsin-Madison [WIS-142-PRJ17PH];
   Higher Education Commission, Pakistan
FX This study was supported by USDA Hatch grant WIS-142-PRJ17PH from the
   University of Wisconsin-Madison. KA was supported by the Higher
   Education Commission, Pakistan. The authors thank Ricky Monson and John
   Parrish for assistance with the IVF experiments. The authors also thank
   Jerry Guenther, Mary Herlihy, and Abdulkadir Keskin for the in vivo
   embryo collection.
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NR 41
TC 104
Z9 125
U1 0
U2 36
PU BMC
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-2164
J9 BMC GENOMICS
JI BMC Genomics
PD MAR 28
PY 2012
VL 13
AR 118
DI 10.1186/1471-2164-13-118
PG 9
WC Biotechnology & Applied Microbiology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biotechnology & Applied Microbiology; Genetics & Heredity
GA 954EA
UT WOS:000304928200001
PM 22452724
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Llamusi, B
   Artero, R
AF Llamusi, Beatriz
   Artero, Ruben
TI Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica
   Protein Kinase Gene
SO CURRENT GENOMICS
LA English
DT Article
ID CUG-BINDING PROTEIN; DMPK MESSENGER-RNA; TRIPLET REPEAT; TRINUCLEOTIDE
   REPEAT; MUSCLEBLIND PROTEINS; EXPANDED-REPEAT; NUCLEAR FOCI; DECREASED
   EXPRESSION; UNTRANSLATED REGION; MUSCULAR-DYSTROPHY
AB Myotonic Dystrophy type 1 (DM1) is a multi-system disorder characterized by muscle wasting, myotonia, cardiac conduction defects, cataracts, and neuropsychological dysfunction. DM1 is caused by expansion of a CTG repeat in the 3 untranslated region (UTR) of the Dystrophia Myotonica Protein Kinase (DMPK) gene. A body of work demonstrates that DMPK mRNAs containing abnormally expanded CUG repeats are toxic to several cell types. A core mechanism underlying symptoms of DM1 is that mutant DMPK RNA interferes with the developmentally regulated alternative splicing of defined pre-mRNAs. Expanded CUG repeats fold into ds(CUG) hairpins that sequester nuclear proteins including human Muscleblind-like (MBNL) and hnRNP H alternative splicing factors. DM1 cells activate CELF family member CUG-BP1 protein through hyperphosphorylation and stabilization in the cell nucleus. CUG-BP1 and MBNL1 proteins act antagonistically in exon selection in several pre-mRNA transcripts, thus MBNL1 sequestration and increase in nuclear activity of CUG-BP1 both act synergistically to missplice defined transcripts. Mutant DMPK-mediated effect on subcellular localization, and defective phosphorylation of cytoplasmic CUG-BP1, have additionally been linked to defective translation of p21 and MEF2A in DM1, possibly explaining delayed differentiation of DM1 muscle cells. Mutant DMPK transcripts bind and sequester transcription factors such as Specificity protein 1 leading to reduced transcription of selected genes. Recently, transcripts containing long hairpin structures of CUG repeats have been shown to be a Dicer ribonuclease target and Dicer-induced downregulation of the mutant DMPK transcripts triggers silencing effects on RNAs containing long complementary repeats. In summary, mutant DMPK transcripts alter gene transcription, alternative splicing, and translation of specific gene transcripts, and have the ability to trigger gene-specific silencing effects in DM1 cells. Therapies aimed at reversing these gene expression alterations should prove effective ways to treat DM1.
C1 [Llamusi, Beatriz; Artero, Ruben] Univ Valencia, Dept Genet, E-46100 Burjassot, Spain.
C3 University of Valencia
RP Artero, R (corresponding author), Univ Valencia, Dept Genet, Doctor Moliner 50, E-46100 Burjassot, Spain.
EM ruben.artero@uv.es
RI Artero, Ruben/K-6815-2014; llamusi, Beatriz/M-4449-2015
OI Artero, Ruben/0000-0003-1596-047X; llamusi, Beatriz/0000-0002-2694-1293
FU Genoma Espana Foundation
FX We thank Patrick Morcillo and members of our laboratory for insightful
   discussions during the writing of this paper. The financial support to
   B. L. by the Genoma Espana Foundation is also acknowledged.
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NR 98
TC 20
Z9 26
U1 0
U2 7
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
   EMIRATES
SN 1389-2029
EI 1875-5488
J9 CURR GENOMICS
JI Curr. Genomics
PD DEC
PY 2008
VL 9
IS 8
BP 509
EP 516
DI 10.2174/138920208786847944
PG 8
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 380YC
UT WOS:000261501000001
PM 19516957
OA Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Lohanadan, K
   Assent, M
   Linnemann, A
   Schuld, J
   Heukamp, LC
   Krause, K
   Vorgerd, M
   Reimann, J
   Schänzer, A
   Kirfel, G
   Fürst, DO
   van der Ven, PFM
AF Lohanadan, Keerthika
   Assent, Marvin
   Linnemann, Anja
   Schuld, Julia
   Heukamp, Lukas C.
   Krause, Karsten
   Vorgerd, Matthias
   Reimann, Jens
   Schaenzer, Anne
   Kirfel, Gregor
   Fuerst, Dieter O.
   van der Ven, Peter F. M.
TI Synaptopodin-2 Isoforms Have Specific Binding Partners and Display
   Distinct, Muscle Cell Type-Specific Expression Patterns
SO CELLS
LA English
DT Article
DE synaptopodin-2/SYNPO2/myopodin; striated muscle; smooth muscle;
   alternative splicing; protein isoforms; synemin; alpha-actinin; nemaline
   myopathy; neurogenic atrophy; denervation
ID DOWN-REGULATION; Z-DISC; PROTEIN; MYOPODIN; SYNEMIN; CANCER; FILAMENTS;
   FESSELIN; FILAMIN; POLYMERIZATION
AB Synaptopodin-2 (SYNPO2) is a protein associated with the Z-disc in striated muscle cells. It interacts with alpha-actinin and filamin C, playing a role in Z-disc maintenance under stress by chaperone-assisted selective autophagy (CASA). In smooth muscle cells, SYNPO2 is a component of dense bodies. Furthermore, it has been proposed to play a role in tumor cell proliferation and metastasis in many different kinds of cancers. Alternative transcription start sites and alternative splicing predict the expression of six putative SYNPO2 isoforms differing by extended amino- and/or carboxy-termini. Our analyses at mRNA and protein levels revealed differential expression of SYNPO2 isoforms in cardiac, skeletal and smooth muscle cells. We identified synemin, an intermediate filament protein, as a novel binding partner of the PDZ-domain in the amino-terminal extension of the isoforms mainly expressed in cardiac and smooth muscle cells, and demonstrated colocalization of SYNPO2 and synemin in both cell types. A carboxy-terminal extension, mainly expressed in smooth muscle cells, is sufficient for association with dense bodies and interacts with alpha-actinin. SYNPO2 therefore represents an additional and novel link between intermediate filaments and the Z-discs in cardiomyocytes and dense bodies in smooth muscle cells, respectively. In pathological skeletal muscle samples, we identified SYNPO2 in the central and intermediate zones of target fibers of patients with neurogenic muscular atrophy, and in nemaline bodies. Our findings help to understand distinct functions of individual SYNPO2 isoforms in different muscle tissues, but also in tumor pathology.
C1 [Lohanadan, Keerthika; Assent, Marvin; Linnemann, Anja; Schuld, Julia; Kirfel, Gregor; Fuerst, Dieter O.; van der Ven, Peter F. M.] Univ Bonn, Inst Cell Biol, D-53121 Bonn, Germany.
   [Heukamp, Lukas C.] Univ Hosp Bonn, Dept Pathol, D-53127 Bonn, Germany.
   [Krause, Karsten; Vorgerd, Matthias] Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Heimer Inst Muscle Res, Dept Neurol, D-44789 Bochum, Germany.
   [Reimann, Jens] Univ Hosp Bonn, Dept Neurol, Neuromuscular Dis Sect, D-53127 Bonn, Germany.
   [Schaenzer, Anne] Justus Liebig Univ Giessen, Inst Neuropathol, D-35392 Giessen, Germany.
C3 University of Bonn; University of Bonn; Ruhr University Bochum;
   University of Bonn; Justus Liebig University Giessen
RP van der Ven, PFM (corresponding author), Univ Bonn, Inst Cell Biol, D-53121 Bonn, Germany.
EM pvdven@uni-bonn.de
RI Krause, Karsten/HLX-2943-2023; Vorgerd, Matthias/GRS-7540-2022; Heukamp,
   Lukas/A-8338-2013; Furst, Dieter O./H-8561-2013; Heukamp,
   Lukas/G-9967-2012
OI Furst, Dieter O./0000-0001-8805-6444; Heukamp,
   Lukas/0000-0002-3388-3482; Vorgerd, Matthias/0000-0002-1782-4642;
   Assent, Marvin/0009-0009-2975-466X; van der Ven,
   Peter/0000-0002-9750-8913; Schanzer, Anne/0000-0002-2014-2028
FU German Research Foundation, Bonn, Germany
FX The authors thank Padmanabhan Vakeel and Britta Albinus for help during
   early stages of this work, Karin Bois, Corina Mirschkorsch, Natalie
   Thum-Schmitz, Kerstin Leib, and Karin Kappes-Horn for technical support,
   and the Imaging Core Facility AIMBIOS, University of Bonn, for help with
   imaging.
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NR 54
TC 1
Z9 1
U1 4
U2 10
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2073-4409
J9 CELLS-BASEL
JI Cells
PD JAN
PY 2024
VL 13
IS 1
AR 85
DI 10.3390/cells13010085
PG 24
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA EM7W9
UT WOS:001139418800001
PM 38201288
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Wang, YJ
   Su, XJ
   Wu, ZF
   Sheibani, N
AF Wang, YJ
   Su, XJ
   Wu, ZF
   Sheibani, N
TI Thrombospondin-1 deficient mice exhibit an altered expression pattern of
   alternatively spliced PECAM-1 Isoforms in retinal vasculature and
   endothelial cells
SO JOURNAL OF CELLULAR PHYSIOLOGY
LA English
DT Article
ID ADHESION MOLECULE-1 PECAM-1; TYROSINE-PHOSPHATASE; HEMATOPOIETIC-CELLS;
   CYTOPLASMIC DOMAIN; DOWN-REGULATION; ACTIVATION; NEOVASCULARIZATION;
   ANGIOGENESIS; INHIBITION; MODULATION
AB We have previously shown that thrombosponsin-1 (TSP1) and PECAM-1 are components of a regulatory switch whose reciprocal regulation in the endothelial cells (EC) promotes an angiogenic or a differentiated, quiescent phenotype. The physiological role TSPI plays in modulation of PECAM-1 expression and function during vascular development and angiogenesis remains largely unknown. Here we demonstrate that PECAM-1 undergoes alternative splicing in its cytoplasmic domain generating eight isoforms in the retinal vasculature of wild type and TSP1 -/- mice. All PECAM-1 isoforms examined contained exon 13. The frequency of PECAM-1 isoform(s) containing exon 14 was significantly higher during early stages of retinal vascularization, which decreased during later stages of retinal vascularization in wild type mice. In contrast, the frequency of exon 14 containing PECAM-1 isoform(s) did not significantly change during retinal vascularization in TSPI -/- mice. They consistently expressed higher number of isoforms with exon 14 during later stages of retinal vascularization. The higher level of PECAM-1 isoforms with exon 14 was also observed in cultured TSPI -/- retinal EC compared to wild type retinal EC. This was consistent with increased amounts of Src and SHP-2 associated with PECAM-1, and enhanced migration and proliferation in TSPI -/- retinal EC. These data suggest PECAM-1 signaling in the endothelium is modulated by its alternative splicing during retinal vascular development and angiogenesis, which may be impacted by TSPI expression.
C1 Univ Wisconsin, Sch Med, Dept Ophthalmol & Visual Sci, Madison, WI 53792 USA.
   Wuxi 2 Hosp, Wuxi, Jiangsu Prov, Peoples R China.
   Univ Wisconsin, Dept Pharmacol, Madison, WI 53706 USA.
C3 University of Wisconsin System; University of Wisconsin Madison;
   University of Wisconsin System; University of Wisconsin Madison
RP Univ Wisconsin, Sch Med, Dept Ophthalmol & Visual Sci, 600 Highland Ave,K6-458 CSC, Madison, WI 53792 USA.
EM nsheibanikar@facstaff.wise.edu
RI Sheibani, Nader/AAG-2379-2020
FU NEI NIH HHS [EY13700] Funding Source: Medline; NIAMS NIH HHS [AR45599]
   Funding Source: Medline
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NR 32
TC 10
Z9 12
U1 0
U2 1
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9541
EI 1097-4652
J9 J CELL PHYSIOL
JI J. Cell. Physiol.
PD JUL
PY 2005
VL 204
IS 1
BP 352
EP 361
DI 10.1002/jcp.20290
PG 10
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA 931ZU
UT WOS:000229524800039
PM 15672414
DA 2025-04-10
ER

PT J
AU Zhang, X
   Azhar, G
   Huang, C
   Cui, C
   Zhong, Y
   Huck, S
   Wei, JY
AF Zhang, Xiaomin
   Azhar, Gohar
   Huang, Chris
   Cui, Cunqi
   Zhong, Ying
   Huck, Sylvie
   Wei, Jeanne Y.
TI Alternative splicing and nonsense-mediated mRNA decay regulate gene
   expression of serum response factor
SO GENE
LA English
DT Article
DE novel isoform; NMD; differential expression; gene regulation
ID TRANSCRIPTION FACTOR; CARDIAC-HYPERTROPHY; SRF; CELLS; MOUSE;
   ACTIVATION; CLEAVAGE; IDENTIFICATION; INACTIVATION; APOPTOSIS
AB Serum response factor (SRF) is an important transcription factor that regulates a variety of genes in many tissues during development, maturation and aging. The SRF protein also controls the expression of SRF target genes, including the SRF gene itself. However, it is incompletely established how SRF isoforms contribute to the regulation of SRF gene expression. In the present study, we report the identification of three novel SRF isoforms in human tissue. We found that one novel isoform, SPF-Delta 3, contained a premature termination codon (PTC), which was a target of nonsense-mediated mRNA decay (NMD). By contrast, the SR-F-Delta 345 isoform protein was able to specifically bind to the serum response element, and to repress the SRF gene promoter activity. Therefore, we propose that SRF isoforms regulate expression of the SRF gene via two different mechanisms. One mechanism is to reduce the abundance of SRF transcripts via coupled alternative splicing and NMD, the other one is to regulate the SRF gene expression via a feedback mechanism in which the SRF isoform proteins bind to the SRF gene promoter region. Analysis of hundreds of SRF cDNA clones derived from human hearts of fetuses, young adults, old and very old individuals revealed that SRF isoform transcripts were increased in the human heart with advancing age. Our data indicate that the SRF isoforms were differentially expressed in the human versus mouse cardiac muscle. Alternative splicing and NMD likely maintain a delicate balance of SRF transcripts and/or proteins among the full-length SRF form and various SRF isoforms that are critical to the regulation of many SRF target genes, including the SRF gene itself. (c) 2007 Published by Elsevier B.V.
C1 Univ Arkansas Med Sci, Ctr Geriatr Res Educ & Clin, Cent Arkansas Veterans Healthcare Syst, Donald W Reynolds Dept Geriat, Little Rock, AR 72205 USA.
   Rutgers State Univ, Dept Genet, Piscataway, NJ 08854 USA.
   UMR CNRS, Dept Radiobiol & Radiopathol, Lab Etud Mec Recombinais, CEA 217, 92265 Fontenay Aux Roses, France.
C3 Geriatric Research Education & Clinical Center; University of Arkansas
   System; University of Arkansas Medical Sciences; US Department of
   Veterans Affairs; Veterans Health Administration (VHA); Central Arkansas
   Veterans Healthcare System; Rutgers University System; Rutgers
   University New Brunswick; CEA; Centre National de la Recherche
   Scientifique (CNRS); Universite Paris Saclay
RP Wei, JY (corresponding author), 4301 W Markham St, Slot 748, Little Rock, AR 72205 USA.
EM martinscarlette@uams.edu
RI Zhang, Xiaomin/GVT-8927-2022
OI Zhang, Xiaomin/0000-0002-5660-5303
FU NIA NIH HHS [AG-018388, AG-026091] Funding Source: Medline
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NR 45
TC 15
Z9 20
U1 1
U2 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD OCT 1
PY 2007
VL 400
IS 1-2
BP 131
EP 139
DI 10.1016/j.gene.2007.06.008
PG 9
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 211QY
UT WOS:000249539600016
PM 17629633
DA 2025-04-10
ER

PT J
AU Zennaro, MC
   Souque, A
   Viengchareun, S
   Poisson, E
   Lombès, M
AF Zennaro, MC
   Souque, A
   Viengchareun, S
   Poisson, E
   Lombès, M
TI A new human MR splice variant is a ligand-independent transactivator
   modulating corticosteroid action
SO MOLECULAR ENDOCRINOLOGY
LA English
DT Article
ID HUMAN MINERALOCORTICOID RECEPTOR; HUMAN GLUCOCORTICOID RECEPTOR;
   MESSENGER-RIBONUCLEIC-ACID; ESTROGEN-RECEPTOR; BINDING DOMAIN;
   TRANSCRIPTIONAL ACTIVATION; ALTERNATIVE PROMOTERS; NUCLEAR RECEPTORS;
   CARDIAC FIBROSIS; DNA-BINDING
AB Aldosterone effects are mediated by the MR, which possesses the same affinity for mineralocorticoids and glucocorticoids. In addition to the existence of mechanisms regulating intracellular hormone availability, we searched for human MR splice variants involved in tissue-specific corticosteroid function. We have identified a new human MR isoform, hMR Delta5,6, resulting from an alternative splicing event skipping exons 5 and 6 of the human MR gene. hMR Delta5,6 mRNAs are expressed in several human tissues at different levels compared with wild-type human MR, as shown by real time PCR. Introduction of a premature stop codon results in a 75-kDa protein lacking the entire hinge region and ligand binding domain. Interestingly, hMR Delta5,6 is still capable of binding to DNA and acts as a ligand-independent transactivator, with maximal transcriptional induction corresponding to approximately 30-40% of aldosterone-activated wild-type human MR. Coexpression of hMR Delta5,6 with human MR or human GR increases their transactivation potential at high doses of hormone. Finally, hMR Delta5,6 is able to recruit the coactivators, steroid receptor coactivator 1, receptor interacting protein 140, and transcription intermediary factor 1 a, which enhance its transcriptional activity. Ligand-independent transactivation and enhancement of both wild-type MR and GR activities by hMR Delta5,6 suggests that this new variant might play a role in modulating corticosteroid effects in target tissues.
C1 Univ Paris 07, INSERM, U478, F-75870 Paris 18, France.
C3 Universite Paris Cite; Institut National de la Sante et de la Recherche
   Medicale (Inserm)
RP Zennaro, MC (corresponding author), Univ Paris 07, INSERM, U478, BP 416,16 Rue Henri Huchard, F-75870 Paris 18, France.
RI Lombes, Marc/L-5933-2018; Viengchareun, Say/M-6612-2017; Zennaro,
   Maria-Christina/IZP-8913-2023
OI Zennaro, Maria-Christina/0000-0001-5449-9191; VIENGCHAREUN,
   Say/0000-0003-4280-3250
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NR 63
TC 82
Z9 88
U1 0
U2 3
PU ENDOCRINE SOC
PI BETHESDA
PA 4350 EAST WEST HIGHWAY SUITE 500, BETHESDA, MD 20814-4110 USA
SN 0888-8809
J9 MOL ENDOCRINOL
JI Mol. Endocrinol.
PD SEP
PY 2001
VL 15
IS 9
BP 1586
EP 1598
DI 10.1210/me.15.9.1586
PG 13
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA 468CH
UT WOS:000170740200012
PM 11518808
OA Bronze
DA 2025-04-10
ER

PT J
AU Hsu, TC
   Shore, SK
   Seshsmma, T
   Bagasra, O
   Walsh, PN
AF Hsu, TC
   Shore, SK
   Seshsmma, T
   Bagasra, O
   Walsh, PN
TI Molecular cloning of platelet factor XI, an alternative splicing product
   of the plasma factor XI gene
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID BLOOD-COAGULATION FACTOR; POLYMERASE CHAIN-REACTION; ACTIVATED
   FACTOR-XI; FACTOR-IX; THROMBOPLASTIN ANTECEDENT; BINDING-SITE;
   PURIFICATION; DNA; AMPLIFICATION; MECHANISM
AB Platelet factor XI is associated with the platelet plasma membrane and has an apparent M-r (220,000 nonreduced, 55,000 reduced) different from that of plasma factor XI, However, the site of synthesis and the nature of platelet factor XI are not known. Using reverse transcriptase polymerase chain reaction, 12 out of 13 exons (all except exon V) coding for mature plasma factor XI: were amplified from human platelet mRNA, The sequence of each of these exons was identical to that of plasma factor XI, In situ amplification and hybridization of factor XI mRNA was positive for exon III and negative for exon V in platelets and negative for both exons in other blood cells. By Northern hybridization, a factor XI mRNA transcript of similar to 1.9 kilobases was detected in megakaryocytic cells, and one of similar to 2.1 kilobases was detected in liver cells. Factor XI cDNA was cloned from a megakaryocyte library and sequenced. Exon V was absent, and the splicing of exon IV to exon VI maintained the open reading frame without alteration of the amino acid sequence except for the deletion of amino acids Ala(91)-Arg(144) within the amino-terminal portion of the Apple 2 domain. Thus, platelet factor XI is an alternative splicing product of the factor XI gene, localized to platelets and megakaryocytes but absent from other blood cells.
C1 Temple Univ, Sch Med, Sol Sherry Thrombosis Res Ctr, Philadelphia, PA 19140 USA.
   Temple Univ, Sch Med, Dept Biochem, Philadelphia, PA 19140 USA.
   Temple Univ, Sch Med, Dept Med, Philadelphia, PA 19140 USA.
   Temple Univ, Sch Med, Fels Inst Canc Res & Mol Biol, Philadelphia, PA 19140 USA.
   Thomas Jefferson Univ, Mol Retrovirol Labs, Philadelphia, PA 19107 USA.
C3 Pennsylvania Commonwealth System of Higher Education (PCSHE); Temple
   University; Pennsylvania Commonwealth System of Higher Education
   (PCSHE); Temple University; Pennsylvania Commonwealth System of Higher
   Education (PCSHE); Temple University; Pennsylvania Commonwealth System
   of Higher Education (PCSHE); Temple University; Thomas Jefferson
   University
RP Walsh, PN (corresponding author), Temple Univ, Sch Med, Sol Sherry Thrombosis Res Ctr, 3400 N Broad St, Philadelphia, PA 19140 USA.
FU NHLBI NIH HHS [HL56153, HL46213, HL55407] Funding Source: Medline
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NR 35
TC 41
Z9 45
U1 0
U2 0
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0021-9258
J9 J BIOL CHEM
JI J. Biol. Chem.
PD MAY 29
PY 1998
VL 273
IS 22
BP 13787
EP 13793
DI 10.1074/jbc.273.22.13787
PG 7
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA ZQ947
UT WOS:000073919100061
PM 9593722
OA hybrid
DA 2025-04-10
ER

PT J
AU Boursereau, R
   Donadieu, A
   Dabertrand, F
   Dubayle, D
   Morel, JL
AF Boursereau, Raphael
   Donadieu, Arnaud
   Dabertrand, Fabrice
   Dubayle, David
   Morel, Jean-Luc
TI Blood brain barrier precludes the cerebral arteries to
   intravenously-injected antisense oligonucleotide
SO EUROPEAN JOURNAL OF PHARMACOLOGY
LA English
DT Article
DE Ryanodine receptor; Cerebral artery; Blood brain barrier; Calcium
   signaling
ID RYANODINE RECEPTOR SUBTYPE-3; NEGATIVE SPLICE VARIANT; CA2+ RELEASE;
   IN-VIVO; PERMEABILITY; EXPRESSION; DELIVERY; GENTAMICIN; CHANNELS;
   MYOCYTES
AB Alternative splicing of the ryanodine receptor subtype 3 (RyR3) produces a short isoform (RyR3S) able to negatively regulate the ryanodine receptor subtype 2 (RyR2), as shown in cultured smooth muscle cells from mice. The RyR2 subtype has a crucial role in the control of vascular reactivity via the Nile tuning of Ca2+ signaling to regulate cerebral vascular Lone. In this study, we have shown that the inhibition of RyR3S expression by a specific antisense oligonucleoticle (asRyR3S) was able to increase the Ca2+ signals implicating RyR2 in cerebral arteries ex vivo. Moreover, we tried to inhibit the expression of RyR3S in vivo. The asRyR3S was complexed with JetPEl and injected intravenously coupled with several methods known to induce a blood brain barrier disruption. We tested solutions to induce osmotic choc (mannitol), inflammation (bacteria lipopolysaccharide and pertussis toxin), vasoconstriction or dilatation (sumatriptan, phenylephrine, histamine), CD73 activation (NECA) and lipid instability (Tween80). All tested technics failed to target asRyR3 in the cerebral arteries wall, whereas the molecule was included in hepatocytes or cardiomyocytes. Our results showed that the RyR3 alternative splicing could have a Function in cerebral arteries ex vivo; however, the disruption of the blood brain barrier could not induce the internalization of antisense oligonucleotides in the cerebral arteries, in order to prove the function of RYR3 short isoform in vivo. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Boursereau, Raphael; Donadieu, Arnaud; Morel, Jean-Luc] Univ Bordeaux, Inst Malad Neurodegenerat, UMR 5293, F-33000 Bordeaux, France.
   [Boursereau, Raphael; Donadieu, Arnaud; Morel, Jean-Luc] CNRS, Inst Malad Neurodegenerat, UMR 5293, F-33000 Bordeaux, France.
   [Dabertrand, Fabrice] Univ Vermont, UVM Coll Med, Dept Farmacol, Burlington, VT USA.
   [Dubayle, David] Univ Paris 05, Fac Sci Fondamentales & Biomed, Ctr Neurophys Physiol Pathol, CNRS UMR 8119, F-75006 Paris, France.
C3 Centre National de la Recherche Scientifique (CNRS); CNRS - National
   Institute for Biology (INSB); Universite de Bordeaux; Centre National de
   la Recherche Scientifique (CNRS); CNRS - National Institute for Biology
   (INSB); Universite de Bordeaux; University of Vermont; Universite Paris
   Cite; Centre National de la Recherche Scientifique (CNRS); CNRS -
   National Institute for Biology (INSB)
RP Morel, JL (corresponding author), Univ Bordeaux, CNRS, Inst Malad Neurodegenerat, UMR 5293, 146 Rue Leo Saignat, F-33000 Bordeaux, France.
EM Fabrice.Dabertrand@uvm.edu; dubayle@biomedicale.univ-paris5.fr;
   jean-luc.morel@u-bordeaux.fr
RI Dabertrand, Fabrice/AHC-7663-2022; Morel, Jean-Luc/AAY-9235-2020
OI Dabertrand, Fabrice/0000-0003-2541-9185; Boursereau,
   Raphael/0000-0001-6442-613X; morel, jean-luc/0000-0001-8079-6851
FU CNRS; CNES [DAR2013-5020]; Region Aquitaine
FX The authors thank Nathalie Biendon for technical assistance and Dr. Anne
   Prevot for reading of the MS. This work was supported by Grants from
   CNRS (AO longevite et vieillissement), CNES (DAR2013-5020) and Region
   Aquitaine (aging research grant 2009). RB, AD performed the experiments;
   FD, JLM and DD are responsible for experiment design, analysis of data
   and drafting the article. JLM was the Principal Investigator and has
   obtained the grants indicated here.
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NR 41
TC 9
Z9 10
U1 1
U2 7
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0014-2999
EI 1879-0712
J9 EUR J PHARMACOL
JI Eur. J. Pharmacol.
PD JAN 15
PY 2015
VL 747
BP 141
EP 149
DI 10.1016/j.ejphar.2014.11.027
PG 9
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA AZ4ML
UT WOS:000348195500017
PM 25510229
OA Green Published
DA 2025-04-10
ER

PT J
AU Dumont, AA
   Dumont, L
   Zhou, DL
   Giguère, H
   Pileggi, C
   Harper, ME
   Blondin, DP
   Scott, MS
   Auger-Messier, M
AF Dumont, Audrey-Ann
   Dumont, Lauralyne
   Zhou, Delong
   Giguere, Hugo
   Pileggi, Chantal
   Harper, Mary-Ellen
   Blondin, Denis P.
   Scott, Michelle S.
   Auger-Messier, Mannix
TI Cardiomyocyte-specific Srsf3 deletion reveals a mitochondrial regulatory
   role
SO FASEB JOURNAL
LA English
DT Article
DE cardiomyocyte; mitochondria; oxidative phosphorylation; respiratory
   chain complex I; Srsf3
ID HIGH-FAT DIET; HIPPOCAMPAL NEUROGENESIS; PREFRONTAL CORTEX; MATERNAL
   OBESITY; NMDA; GLUTAMATE; MEMORY; EXPRESSION; PREGNANCY; BEHAVIOR
AB Serine-rich splicing factor 3 (SRSF3) was recently reported as being necessary to preserve RNA stability via an mTOR mechanism in a cardiac mouse model in adulthood. Here, we demonstrate the link between Srsf3 and mitochondrial integrity in an embryonic cardiomyocyte-specific Srsf3 conditional knockout (cKO) mouse model. Fifteen-day-old Srsf3 cKO mice showed dramatically reduced (below 50%) survival and reduced the left ventricular systolic performance, and histological analysis of these hearts revealed a significant increase in cardiomyocyte size, confirming the severe remodeling induced by Srsf3 deletion. RNA-seq analysis of the hearts of 5-day-old Srsf3 cKO mice revealed early changes in expression levels and alternative splicing of several transcripts related to mitochondrial integrity and oxidative phosphorylation. Likewise, the levels of several protein complexes of the electron transport chain decreased, and mitochondrial complex I-driven respiration of permeabilized cardiac muscle fibers from the left ventricle was impaired. Furthermore, transmission electron microscopy analysis showed disordered mitochondrial length and cristae structure. Together with its indispensable role in the physiological maintenance of mouse hearts, these results highlight the previously unrecognized function of Srsf3 in regulating the mitochondrial integrity.
C1 [Dumont, Audrey-Ann; Dumont, Lauralyne; Giguere, Hugo; Blondin, Denis P.; Auger-Messier, Mannix] Univ Sherbrooke, Ctr Rech CHUS, Fac Med & Sci Sante, Dept Med,Serv Cardiol, Sherbrooke, PQ J1H 5N4, Canada.
   [Zhou, Delong] Univ Sherbrooke, Ctr Rech CHUS, Fac Med & Sci Sante, Dept Microbiol & Infectiol, Sherbrooke, PQ, Canada.
   [Pileggi, Chantal; Harper, Mary-Ellen] Univ Ottawa, Fac Med, Dept Biochem Microbiol & Immunol, Ottawa, ON, Canada.
   [Scott, Michelle S.] Univ Sherbrooke, Ctr Rech CHUS, Fac Med & Sci Sante, Dept Biochim & Genom Fonct, Sherbrooke, PQ, Canada.
C3 University of Sherbrooke; University of Sherbrooke; University of
   Ottawa; University of Sherbrooke
RP Auger-Messier, M (corresponding author), Univ Sherbrooke, Ctr Rech CHUS, Fac Med & Sci Sante, Dept Med,Serv Cardiol, Sherbrooke, PQ J1H 5N4, Canada.
EM Mannix.Auger-Messier@USherbrooke.ca
RI Harper, Mary-Ellen/C-3103-2009; Auger-Messier, Mannix/AFL-8844-2022;
   Blondin, Denis/AAD-7560-2021
OI ZHOU, Delong/0000-0001-5397-3920; Auger-Messier,
   Mannix/0000-0001-8600-5440; Giguere, Hugo/0000-0001-7193-0051; Harper,
   Mary-Ellen/0000-0003-3864-5886; Dumont, Lauralyne/0000-0002-7681-6212
FU Gouvernement du Canada | Canadian Institutes of Health Research (CIHR)
   [301131, FDN143278]
FX Gouvernement du Canada | Canadian Institutes of Health Research (CIHR),
   Grant/Award Number: 301131 and FDN143278
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NR 93
TC 4
Z9 4
U1 0
U2 1
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0892-6638
EI 1530-6860
J9 FASEB J
JI Faseb J.
PD MAY
PY 2021
VL 35
IS 5
AR e21544
DI 10.1096/fj.202002293RR
PG 18
WC Biochemistry & Molecular Biology; Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
   Topics; Cell Biology
GA RU6MM
UT WOS:000645260100081
PM 33819356
OA Green Submitted
DA 2025-04-10
ER

PT J
AU Ayme-Southgatea, AJ
   Turner, L
   Southgate, RJ
AF Ayme-Southgate, A. J.
   Turner, L.
   Southgate, R. J.
TI Molecular analysis of the muscle protein projectin in Lepidoptera
SO JOURNAL OF INSECT SCIENCE
LA English
DT Article
DE alternative splicing; elastic filaments; flight muscle; insect; titin
ID MULTIPLE SEQUENCE ALIGNMENT; DROSOPHILA PROJECTIN; CONNECTING FILAMENTS;
   STRETCH ACTIVATION; ELASTIC PROTEIN; FLIGHT MUSCLES; CARDIAC TITIN;
   BOMBYX-MORI; PEVK DOMAIN; INSECT
AB Striated muscles of both vertebrates and insects contain a third filament composed of the giant proteins, namely kettin and projectin (insects) and titin (vertebrates). All three proteins have been shown to contain several domains implicated in conferring elasticity, in particular a PEVK segment. In this study, the characterization of the projectin protein in the silkmoth, Bombyx mori L. (Lepidoptera: Bombycidae), and the monarch butterfly, Danaus plexippus L. (Lepidoptera: Nymphalidae), as well as a partial characterization in the Carolina sphinx, Manduca sexta L. (Lepidoptera: Sphingidae), are presented. This study showed that, similar to other insects, projectin's overall modular organization was conserved, but in contrast, the PEVK region had a highly divergent sequence. The analysis of alternative splicing in the PEVK region revealed a small number of possible isoforms and the lack of a flight-muscle specific variant, both characteristics being in sharp contrast with findings from other insects. The possible correlation with difference in flight muscle stiffness and physiology between Lepidoptera and other insect orders is discussed.
C1 [Ayme-Southgate, A. J.; Turner, L.; Southgate, R. J.] Coll Charleston, Dept Biol, Charleston, SC 29401 USA.
C3 College of Charleston
RP Ayme-Southgatea, AJ (corresponding author), Coll Charleston, Dept Biol, 66 George St, Charleston, SC 29401 USA.
EM southgatea@cofc.edu; turnerl@cctech.edu; southgater@cofc.edu
FU College of Charleston; HHMI Undergraduate Science Education Program
FX This research was supported by the College of Charleston faculty and
   undergraduate research grants, as well as by a grant to the College of
   Charleston from the HHMI Undergraduate Science Education Program for L.
   Turner.
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NR 43
TC 4
Z9 5
U1 0
U2 12
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
EI 1536-2442
J9 J INSECT SCI
JI J Insect Sci.
PD SEP 21
PY 2013
VL 13
AR 88
PG 14
WC Entomology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Entomology
GA 221WR
UT WOS:000324691600001
PM 24206568
OA Green Submitted, Green Published, gold
DA 2025-04-10
ER

PT J
AU White, EJF
   Brewer, G
   Wilson, GM
AF White, Elizabeth J. F.
   Brewer, Gary
   Wilson, Gerald M.
TI Post-transcriptional control of gene expression by AUF1: Mechanisms,
   physiological targets, and regulation
SO BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
LA English
DT Review
DE AU-rich element; RNA-binding protein; mRNA turnover; Gene regulation;
   Alternative splicing; RNA structure
ID MESSENGER-RNA STABILITY; 3' UNTRANSLATED REGION; HIGH-AFFINITY BINDING;
   RICH ELEMENT; 3'-UNTRANSLATED REGION; COMPETITIVE-BINDING; NUCLEAR
   IMPORT; PROTEIN; HUR; SEQUENCE
AB AUF1 is a family of four proteins generated by alternative pre-mRNA splicing that form high affinity complexes with AU-rich, mRNA-destabilizing sequences located within the 3' untranslated regions of many labile mRNAs. While AUF1 binding is most frequently associated with accelerated mRNA decay, emerging examples have demonstrated roles as a mRNA stabilizer or even translational regulator for specific transcripts. In this review, we summarize recent advances in our understanding of mRNA recognition by AUF1 and the biochemical and functional consequences of these interactions. In addition, unique properties Of individual AUF1 isoforms and the roles of these proteins in modulating expression of genes associated with inflammatory, neoplastic, and cardiac diseases are discussed. Finally, we describe mechanisms that regulate AUF1 expression in cells, and current knowledge of regulatory switches that modulate the cellular levels and/or activities of AUF1 isoforms through distinct protein post-translational modifications. This article is part of a Special Issue entitled: RNA Decay mechanisms. (C) 2012 Elsevier B.V. All rights reserved.
C1 [White, Elizabeth J. F.; Wilson, Gerald M.] Univ Maryland, Sch Med, Dept Biochem & Mol Biol, Baltimore, MD 21201 USA.
   [White, Elizabeth J. F.; Wilson, Gerald M.] Univ Maryland, Sch Med, Marlene & Stewart Greenebaum Canc Ctr, Baltimore, MD 21201 USA.
   [Brewer, Gary] RWJMS UMDNJ, Dept Biochem & Mol Biol, Piscataway, NJ 08854 USA.
C3 University System of Maryland; University of Maryland Baltimore;
   University System of Maryland; University of Maryland Baltimore; Rutgers
   University System; Rutgers University New Brunswick; Rutgers University
   Biomedical & Health Sciences
RP Wilson, GM (corresponding author), Univ Maryland, Sch Med, Dept Biochem & Mol Biol, 108 N Greene St, Baltimore, MD 21201 USA.
EM gwilson@som.umaryland.edu
RI Wilson, Gerald/AAF-3874-2019
OI Wilson, Gerald/0000-0002-1273-7507
FU National Institutes of Health [R01 CA052443, R01 CA102428]
FX Research support for the Brewer and Wilson labs is provided by National
   Institutes of Health grants R01 CA052443 (to G.B.) and R01 CA102428 (to
   G.M.W.).
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NR 98
TC 104
Z9 124
U1 0
U2 18
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 1874-9399
EI 1876-4320
J9 BBA-GENE REGUL MECH
JI Biochim. Biophys. Acta-Gene Regul. Mech.
PD JUN-JUL
PY 2013
VL 1829
IS 6-7
SI SI
BP 680
EP 688
DI 10.1016/j.bbagrm.2012.12.002
PG 9
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 164OP
UT WOS:000320419700018
PM 23246978
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Zappu, A
   Lepori, MB
   Incollu, S
   Dessì, V
   Noli, MC
   Mameli, E
   Bonafé, L
   Dépraz, NG
   De Virgiliis, S
   Cao, A
   Loudianos, G
AF Zappu, Antonietta
   Lepori, Maria Barbara
   Incollu, Simona
   Dessi, Valentina
   Noli, Maria Cristina
   Mameli, Eva
   Bonafe, Luisa
   Depraz, Nuria Garcia
   De Virgiliis, Stefano
   Cao, Antonio
   Loudianos, Georgios
TI Feasibility of RNA studies on illegitimate transcription for molecular
   characterization of splicing mutations in the ATP7B gene: A case report
SO MOLECULAR AND CELLULAR PROBES
LA English
DT Article
DE ATP7B; Wilson disease; Molecular diagnosis; DNA; RNA; Illegitimate
   transcript
ID WILSON-DISEASE
AB Approximately 520 Wilson disease-causing mutations in the ATP7B gene have been described to date. In this study we report DNA and RNA analyses carried out for molecular characterization of a consensus sequence splicing mutation found in homozygosity in a Swiss Wilson disease patient. RNA analysis of 1946 +6 T --> C in both the peripheral lymphoblasts and liver resulted in the production in the propositus of only an alternative transcript lacking exons 6, 7, and 8 resulting most likely in alterations of cell biochemistry and disease. The patient presents an early form of severe hepatic disease characterized by hepatosplenomegaly, reduced hepatic function, anemia and thrombocytopenia indicating that 1946 +6 T --> C is a severe mutation. Since identical results were obtained from both peripheral lymphoblasts and liver they also suggest that RNA studies of illegitimate transcripts can be safely used for molecular characterization of ATP7B splicing mutations, thus improving genetic counseling and diagnosis of Wilson disease. Moreover these studies, contribute to reveal the exact molecular mechanisms producing Wilson disease. (C) 2011 Elsevier Ltd. All rights reserved.
C1 [Loudianos, Georgios] Osped Reg Microcitemie, I-09121 Cagliari, Italy.
   [Zappu, Antonietta; Lepori, Maria Barbara; Incollu, Simona; Dessi, Valentina; Noli, Maria Cristina; Mameli, Eva] USC, Dipartimento Sci Biomed & Biotecnol, Cagliari, Italy.
   [Bonafe, Luisa; Depraz, Nuria Garcia] CHU Vaudois, Div Mol Pediat, CH-1011 Lausanne, Switzerland.
   [De Virgiliis, Stefano] Dipartimento Sci Pediat & Med Clin G Macciotta, Cagliari, Italy.
   [Cao, Antonio] CNR Cagliari, Ist Neurogenet & Neurofarmacol, Cagliari, Italy.
C3 University of Lausanne; Centre Hospitalier Universitaire Vaudois (CHUV)
RP Loudianos, G (corresponding author), Osped Reg Microcitemie, ASL 8,Via Jenner S-N, I-09121 Cagliari, Italy.
EM gloudian@yahoo.com
OI De Virgiliis, Stefano/0009-0002-2930-0202
CR Ala A, 2007, LANCET, V369, P397, DOI 10.1016/S0140-6736(07)60196-2
   Lepori MB, 2007, GENET TEST, V11, P328, DOI 10.1089/gte.2007.0015
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NR 11
TC 4
Z9 4
U1 0
U2 4
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0890-8508
J9 MOL CELL PROBE
JI Mol. Cell. Probes
PD APR
PY 2012
VL 26
IS 2
BP 63
EP 65
DI 10.1016/j.mcp.2011.10.002
PG 3
WC Biochemical Research Methods; Biochemistry & Molecular Biology;
   Biotechnology & Applied Microbiology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
   Cell Biology
GA 944UF
UT WOS:000304228600001
PM 22019423
DA 2025-04-10
ER

PT J
AU Eales, JM
   Jiang, X
   Xu, XG
   Saluja, S
   Akbarov, A
   Cano-Gamez, E
   McNulty, MT
   Finan, C
   Guo, H
   Wystrychowski, W
   Szulinska, M
   Thomas, HB
   Pramanik, S
   Chopade, S
   Prestes, PR
   Wise, I
   Evangelou, E
   Salehi, M
   Shakanti, Y
   Ekholm, M
   Denniff, M
   Nazgiewicz, A
   Eichinger, F
   Godfrey, B
   Antczak, A
   Glyda, M
   Król, R
   Eyre, S
   Brown, J
   Berzuini, C
   Bowes, J
   Caulfield, M
   Zukowska-Szczechowska, E
   Zywiec, J
   Bogdanski, P
   Kretzler, M
   Woolf, AS
   Talavera, D
   Keavney, B
   Maffia, P
   Guzik, TJ
   O'Keefe, RT
   Trynka, G
   Samani, NJ
   Hingorani, A
   Sampson, MG
   Morris, AP
   Charchar, FJ
   Tomaszewski, M
AF Eales, James M.
   Jiang, Xiao
   Xu, Xiaoguang
   Saluja, Sushant
   Akbarov, Artur
   Cano-Gamez, Eddie
   McNulty, Michelle T.
   Finan, Christopher
   Guo, Hui
   Wystrychowski, Wojciech
   Szulinska, Monika
   Thomas, Huw B.
   Pramanik, Sanjeev
   Chopade, Sandesh
   Prestes, Priscilla R.
   Wise, Ingrid
   Evangelou, Evangelos
   Salehi, Mahan
   Shakanti, Yusif
   Ekholm, Mikael
   Denniff, Matthew
   Nazgiewicz, Alicja
   Eichinger, Felix
   Godfrey, Bradley
   Antczak, Andrzej
   Glyda, Maciej
   Krol, Robert
   Eyre, Stephen
   Brown, Jason
   Berzuini, Carlo
   Bowes, John
   Caulfield, Mark
   Zukowska-Szczechowska, Ewa
   Zywiec, Joanna
   Bogdanski, Pawel
   Kretzler, Matthias
   Woolf, Adrian S.
   Talavera, David
   Keavney, Bernard
   Maffia, Pasquale
   Guzik, Tomasz J.
   O'Keefe, Raymond T.
   Trynka, Gosia
   Samani, Nilesh J.
   Hingorani, Aroon
   Sampson, Matthew G.
   Morris, Andrew P.
   Charchar, Fadi J.
   Tomaszewski, Maciej
TI Uncovering genetic mechanisms of hypertension through multi-omic
   analysis of the kidney
SO NATURE GENETICS
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; INFLUENCING BLOOD-PRESSURE; FALSE DISCOVERY
   RATE; MENDELIAN RANDOMIZATION; EXPRESSION; VARIANTS; LOCI; DISEASE;
   TOPIRAMATE; PREDICTION
AB The kidney is an organ of key relevance to blood pressure (BP) regulation, hypertension and antihypertensive treatment. However, genetically mediated renal mechanisms underlying susceptibility to hypertension remain poorly understood. We integrated genotype, gene expression, alternative splicing and DNA methylation profiles of up to 430 human kidneys to characterize the effects of BP index variants from genome-wide association studies (GWASs) on renal transcriptome and epigenome. We uncovered kidney targets for 479 (58.3%) BP-GWAS variants and paired 49 BP-GWAS kidney genes with 210 licensed drugs. Our colocalization and Mendelian randomization analyses identified 179 unique kidney genes with evidence of putatively causal effects on BP. Through Mendelian randomization, we also uncovered effects of BP on renal outcomes commonly affecting patients with hypertension. Collectively, our studies identified genetic variants, kidney genes, molecular mechanisms and biological pathways of key relevance to the genetic regulation of BP and inherited susceptibility to hypertension.
   Gene expression, alternative splicing and DNA methylation profiles from human kidney samples provide insights into the effects of common variants influencing blood pressure. Mendelian randomization uncovers the effects of blood pressure on renal outcomes.
C1 [Eales, James M.; Jiang, Xiao; Xu, Xiaoguang; Saluja, Sushant; Akbarov, Artur; Pramanik, Sanjeev; Salehi, Mahan; Shakanti, Yusif; Ekholm, Mikael; Nazgiewicz, Alicja; Talavera, David; Keavney, Bernard; Tomaszewski, Maciej] Univ Manchester, Fac Med Biol & Hlth, Div Cardiovasc Sci, Manchester, Lancs, England.
   [Cano-Gamez, Eddie; Trynka, Gosia] Wellcome Sanger Inst, Dept Human Genet, Cambridge, England.
   [McNulty, Michelle T.; Sampson, Matthew G.] Boston Childrens Hosp, Div Nephrol, Boston, MA USA.
   [McNulty, Michelle T.; Sampson, Matthew G.] Broad Inst, Cambridge, MA USA.
   [Finan, Christopher; Chopade, Sandesh; Hingorani, Aroon] UCL, Inst Cardiovasc Sci, London, England.
   [Guo, Hui; Berzuini, Carlo] Univ Manchester, Fac Med Biol & Hlth, Sch Hlth Sci, Ctr Biostat, Manchester, Lancs, England.
   [Wystrychowski, Wojciech; Krol, Robert] Med Univ Silesia, Dept Gen Vasc & Transplant Surg, Katowice, Poland.
   [Szulinska, Monika; Bogdanski, Pawel] Poznan Univ Med Sci, Dept Obes Metab Disorders Treatment & Clin Dietet, Poznan, Poland.
   [Thomas, Huw B.; O'Keefe, Raymond T.] Univ Manchester, Fac Med Biol & Hlth, Div Evolut & Genom Sci, Manchester, Lancs, England.
   [Prestes, Priscilla R.; Charchar, Fadi J.] Federat Univ Australia, Sch Sci Psychol & Sport, Hlth Innovat & Transformat Ctr, Ballarat, Vic, Australia.
   [Wise, Ingrid] James Cook Univ, Australian Inst Trop Hlth & Med, Cairns, Qld, Australia.
   [Evangelou, Evangelos] Imperial Coll London, Sch Publ Hlth, Dept Epidemiol & Biostat, London, England.
   [Evangelou, Evangelos] Univ Ioannina, Sch Med, Dept Hyg & Epidemiol, Ioannina, Greece.
   [Denniff, Matthew; Samani, Nilesh J.; Charchar, Fadi J.] Univ Leicester, Dept Cardiovasc Sci, Leicester, Leics, England.
   [Eichinger, Felix; Kretzler, Matthias] Univ Michigan, Dept Med, Ann Arbor, MI 48109 USA.
   [Godfrey, Bradley; Antczak, Andrzej] Poznan Univ Med Sci, Dept Urol & Urooncol, Poznan, Poland.
   [Glyda, Maciej] Nicolaus Copernicus Univ, Coll Med, Dept Transplantol & Gen Surg Poznan, Bydgoszcz, Poland.
   [Eyre, Stephen; Bowes, John; Morris, Andrew P.] Univ Manchester, Fac Med Biol & Hlth, Div Musculoskeletal & Dermatol Sci, Manchester, Lancs, England.
   [Brown, Jason] Manchester Univ NHS Fdn Trust, Div Res & Innovat, Manchester, Lancs, England.
   [Caulfield, Mark] Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England.
   [Caulfield, Mark] Queen Mary Univ London, Barts Cardiovasc Biomed Res Ctr, Natl Inst Hlth Res, London, England.
   [Zukowska-Szczechowska, Ewa] Silesian Med Coll, Dept Hlth Care, Katowice, Poland.
   [Zywiec, Joanna] Med Univ Silesia, Dept Internal Med Diabetol & Nephrol, Katowice, Poland.
   [Woolf, Adrian S.] Univ Manchester, Fac Biol Med & Hlth, Div Cell Matrix Biol & Regenerat Med, Manchester, Lancs, England.
   [Woolf, Adrian S.] Manchester Univ NHS Fdn Trust, Royal Manchester Childrens Hosp, Manchester, Lancs, England.
   [Woolf, Adrian S.; Keavney, Bernard; Tomaszewski, Maciej] Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England.
   [Keavney, Bernard] Manchester Univ NHS Fdn Trust, Div Cardiol, Manchester, Lancs, England.
   [Maffia, Pasquale] Univ Glasgow, Coll Med Vet & Life Sci, Inst Infect Immun & Inflammat, Glasgow, Lanark, Scotland.
   [Maffia, Pasquale; Guzik, Tomasz J.] Univ Glasgow, Coll Med Vet & Life Sci, Inst Cardiovasc & Med Sci, Glasgow, Lanark, Scotland.
   [Maffia, Pasquale] Univ Naples Federico II, Dept Pharm, Naples, Italy.
   [Guzik, Tomasz J.] Jagiellonian Univ, Coll Med, Dept Internal & Agr Med, Krakow, Poland.
   [Trynka, Gosia] Open Targets, Wellcome Genome Campus, Cambridge, England.
   [Samani, Nilesh J.] Leicester Biomed Res Ctr, Natl Inst Hlth Res, Leicester, Leics, England.
   [Sampson, Matthew G.] Harvard Med Sch, Boston, MA 02115 USA.
   [Morris, Andrew P.] Univ Liverpool, Inst Translat Med, Dept Biostat, Liverpool, Merseyside, England.
   [Charchar, Fadi J.] Univ Melbourne, Dept Physiol, Parkville, Vic, Australia.
   [Tomaszewski, Maciej] Manchester Univ NHS Fdn Trust, Manchester Heart Ctr, Manchester, Lancs, England.
   [Pramanik, Sanjeev] East Lancashire Hosp NHS Trust, Blackburn, Lancs, England.
   [Ekholm, Mikael] Karolinska Inst, Danderyd Hosp, Dept Clin Sci, Stockholm, Sweden.
C3 University of Manchester; Wellcome Trust Sanger Institute; Harvard
   University; Harvard University Medical Affiliates; Boston Children's
   Hospital; Harvard University; Massachusetts Institute of Technology
   (MIT); Broad Institute; University of London; University College London;
   University of Manchester; Medical University Silesia; Poznan University
   of Medical Sciences; University of Manchester; Federation University
   Australia; James Cook University; Imperial College London; University of
   Ioannina; University of Leicester; University of Michigan System;
   University of Michigan; Poznan University of Medical Sciences; Nicolaus
   Copernicus University; University of Manchester; University of London;
   Queen Mary University London; University of London; Queen Mary
   University London; Medical University Silesia; University of Manchester;
   Royal Manchester Children's Hospital; University of Manchester;
   University of Glasgow; University of Glasgow; University of Naples
   Federico II; Jagiellonian University; Collegium Medicum Jagiellonian
   University; Harvard University; Harvard Medical School; University of
   Liverpool; University of Melbourne; Karolinska Institutet; Danderyds
   Hospital
RP Tomaszewski, M (corresponding author), Univ Manchester, Fac Med Biol & Hlth, Div Cardiovasc Sci, Manchester, Lancs, England.; Tomaszewski, M (corresponding author), Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England.; Tomaszewski, M (corresponding author), Manchester Univ NHS Fdn Trust, Manchester Heart Ctr, Manchester, Lancs, England.
EM maciej.tomaszewski@manchester.ac.uk
RI Szulińska, Monika/ABB-7157-2021; Morris, Andrew/C-2837-2009; Eales,
   James/AAB-2415-2022; Guzik, Tomasz/AAM-5007-2020; Hingorani,
   Aroon/LSL-2162-2024; Bogdański, Paweł/ABB-2938-2020; Evangelou,
   Evangelos/C-3033-2013; Berzuini, Carlo/AAA-7023-2019; Talavera,
   David/AAD-2088-2021; Woolf, Adrian/AAZ-1075-2020; Brown,
   Jason/KLD-8922-2024; eyre, stephen/K-3776-2017; Sampson,
   Matt/U-4501-2017; Charchar, Fadi/I-6656-2017; Bowes, John/B-3472-2015
OI Prestes, Priscilla/0000-0002-9034-6595; Guo, Hui/0000-0003-0282-6933;
   Wise, Ingrid/0000-0001-6845-535X; Woolf, Adrian
   Spencer/0000-0001-5541-1358; Pramanik, Sanjeev/0000-0003-2317-3628;
   Jiang, Xiao/0000-0002-1442-8927; Charchar, Fadi/0000-0002-6164-9941; Xu,
   Xiaoguang/0000-0003-4568-1623; Talavera, David/0000-0002-8820-3931;
   Cano-Gamez, Kiki/0000-0003-2753-1226; szulinska,
   monika/0000-0002-1163-0919; Finan, Chris/0000-0002-3319-1937; Bowes,
   John/0000-0003-4659-031X; Zywiec, Joanna/0000-0002-0661-8157;
   Wystrychowski, Wojciech/0000-0002-2430-1225; Tomaszewski,
   Maciej/0000-0001-8215-6567; O'Keefe, Raymond/0000-0001-8764-1289;
   Berzuini, Carlo/0000-0001-6056-0489; Morris, Andrew/0000-0002-6805-6014;
   Hingorani, Aroon/0000-0001-8365-0081; Thomas, Huw/0000-0001-9626-9706;
   Salehi, Mahan/0000-0002-4064-4762; Krol, Robert/0000-0002-3079-0168
FU MRC [MR/R010900/1] Funding Source: UKRI; National Center for Advancing
   Translational Sciences; National Institute of Diabetes and Digestive and
   Kidney Diseases [U54DK083912] Funding Source: NIH RePORTER
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NR 135
TC 46
Z9 47
U1 3
U2 42
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
SN 1061-4036
EI 1546-1718
J9 NAT GENET
JI Nat. Genet.
PD MAY
PY 2021
VL 53
IS 5
BP 630
EP +
DI 10.1038/s41588-021-00835-w
EA MAY 2021
PG 21
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA SA1OO
UT WOS:000647853100001
PM 33958779
OA Green Submitted, Green Accepted
DA 2025-04-10
ER

PT J
AU Witkowski, M
   Landmesser, U
   Rauch, U
AF Witkowski, Marco
   Landmesser, Ulf
   Rauch, Ursula
TI Tissue factor as a link between inflammation and coagulation
SO TRENDS IN CARDIOVASCULAR MEDICINE
LA English
DT Article
DE Tissue factor; Inflammation; Coagulation; Vessel; Endothelium.
ID HUMAN ENDOTHELIAL-CELLS; FACTOR UP-REGULATION; FACTOR VIIA BINDING;
   NF-KAPPA-B; FACTOR EXPRESSION; THROMBUS FORMATION; TNF-ALPHA; BLOOD
   THROMBOGENICITY; ADHESION MOLECULES; MESSENGER-RNA
AB Due to its receptor activity for factor VII, tissue factor (TF) is primary initiator of the blood coagulation cascade and ensures rapid hemostasis in case of organ damage. Inflammatory cytokines, such as tumor necrosis factor-alpha or interleukins, strongly induce expression of both full-length TF as well as the alternatively spliced TF in endothelial and blood cells. Beyond its role in hemostasis, TF also has signaling activity and promotes pleiotropic inflammatory responses via protease-activated receptors in concert with other coagulation factors. Alteration of TF expression and TF alternative splicing provides an effective means to change the endothelial phenotype and modulate inflammatory responses of the vessel.
C1 [Witkowski, Marco; Landmesser, Ulf; Rauch, Ursula] Charite Univ Tsmed, Dept Cardiol, Med Clin 2, Campus Benjamin Franklin, Berlin, Germany.
C3 Berlin Institute of Health; Free University of Berlin; Humboldt
   University of Berlin; Charite Universitatsmedizin Berlin
RP Rauch, U (corresponding author), Charite Univ Tsmed, Dept Cardiol, Med Clin 2, Campus Benjamin Franklin, Berlin, Germany.
EM ursula.rauch@charite.de
RI Witkowski, Marco/I-3568-2016
OI Witkowski, Marco/0000-0002-6952-5038
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NR 87
TC 171
Z9 191
U1 1
U2 25
PU ELSEVIER SCIENCE LONDON
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 1050-1738
J9 TRENDS CARDIOVAS MED
JI Trends Cardiovasc. Med.
PD MAY
PY 2016
VL 26
IS 4
BP 297
EP 303
DI 10.1016/j.tcm.2015.12.001
PG 7
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA DK0RN
UT WOS:000374620000001
PM 26877187
DA 2025-04-10
ER

PT J
AU Liu, Y
   Li, YW
   Du, CC
   Kuang, SX
   Zhou, XH
   Zhang, JY
   Ao, X
AF Liu, Ying
   Li, Yiwen
   Du, Chengcheng
   Kuang, Shouxiang
   Zhou, Xuehao
   Zhang, Jinyu
   Ao, Xiang
TI Underlying mechanisms of epithelial splicing regulatory proteins in
   cancer progression
SO JOURNAL OF MOLECULAR MEDICINE-JMM
LA English
DT Review
DE ESRPs; EMT; CSC; Biomarker; Therapeutic target
ID EMERGING FUNCTION; MESENCHYMAL TRANSITION; CLINICAL-SIGNIFICANCE;
   PROGNOSTIC BIOMARKER; DNA METHYLATION; CRYO-EM; ESRP1; EXPRESSION;
   RESISTANCE; MUTATIONS
AB Cancer is the second-leading disease-related cause of global mortality after cardiovascular disease. Despite significant advances in cancer therapeutic strategies, cancer remains one of the major obstacles to human life extension. Cancer pathogenesis is extremely complicated and not fully understood. Epithelial splicing regulatory proteins (ESRPs), including ESRP1 and ESRP2, belong to the heterogeneous nuclear ribonucleoprotein family of RNA-binding proteins and are crucial regulators of the alternative splicing of messenger RNAs (mRNAs). The expression and activity of ESRPs are modulated by various mechanisms, including post-translational modifications and non-coding RNAs. Although a growing body of evidence suggests that ESRP dysregulation is closely associated with cancer progression, the detailed mechanisms remain inconclusive. In this review, we summarize recent findings on the structures, functions, and regulatory mechanisms of ESRPs and focus on their underlying mechanisms in cancer progression. We also highlight the clinical implications of ESRPs as prognostic biomarkers and therapeutic targets in cancer treatment. The information reviewed herein could be extremely beneficial to the development of individualized therapeutic strategies for cancer patients.
C1 [Liu, Ying; Ao, Xiang] Qingdao Univ, Affiliated Hosp, Qingdao Med Coll, Inst Translat Med, Qingdao 266021, Peoples R China.
   [Liu, Ying; Li, Yiwen; Du, Chengcheng; Kuang, Shouxiang; Zhou, Xuehao; Zhang, Jinyu; Ao, Xiang] Qingdao Univ, Qingdao Med Coll, Sch Basic Med Sci, Qingdao 266071, Peoples R China.
C3 Qingdao University; Qingdao University
RP Liu, Y (corresponding author), Qingdao Univ, Affiliated Hosp, Qingdao Med Coll, Inst Translat Med, Qingdao 266021, Peoples R China.; Liu, Y (corresponding author), Qingdao Univ, Qingdao Med Coll, Sch Basic Med Sci, Qingdao 266071, Peoples R China.
EM liuying_hero@163.com
RI Liu, Ying/ABF-6380-2021
OI Liu, Ying/0000-0003-1699-9309
FU China Postdoctoral Science Foundation [2018M642607]
FX This work was supported by the China Postdoctoral Science Foundation
   (2018M642607).
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NR 133
TC 18
Z9 18
U1 0
U2 10
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 0946-2716
EI 1432-1440
J9 J MOL MED
JI J. Mol. Med.
PD NOV
PY 2022
VL 100
IS 11
BP 1539
EP 1556
DI 10.1007/s00109-022-02257-5
EA SEP 2022
PG 18
WC Genetics & Heredity; Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity; Research & Experimental Medicine
GA 5N0GB
UT WOS:000859681900001
PM 36163376
DA 2025-04-10
ER

PT J
AU Koo, G
   Conley, SK
   Wassif, CA
   Porter, FD
AF Koo, Grace
   Conley, Sandra K.
   Wassif, Christopher A.
   Porter, Forbes D.
TI Discordant Phenotype and Sterol Biochemistry in Smith-Lemli-Opitz
   Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE Smith-Lemli-Optiz syndrome; SLOS; malformations; 7-dehydrocholesterol
   (7DHC); cholesterol; inborn errors
ID 7-DEHYDROCHOLESTEROL REDUCTASE GENE; CARRIER FREQUENCY; MUTATIONS;
   CHOLESTEROL; DIAGNOSIS; DELTA(7)-REDUCTASE; FIBROBLASTS
AB Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase (DHCR7) gene. During cholesterol biosynthesis, DHCR7 catalyzes the conversion of 7-dehydrocholesterol (7DHC) to cholesterol. A clinical diagnosis of SLOS is confirmed biochemically by the presence of elevated levels of 7DHC. Phenotypic severity of SLOS has previously been shown to correlate with the 7DHC/cholesterol ratio. We describe a patient with a severe SLOS phenotype, but a very low serum 7DHC/cholesterol ratio. We show that this discordance is due to alternative splicing of a previously unreported IVS5+3 A>T mutation. This mutation results in the transcription of both normal and mutant mRNA transcripts. We postulate that alternative splicing of the IVS5+3 A>T results in insufficient DHCR7 activity during embryogenesis, but sufficient DHCR7 activity once cholesterol synthetic rates decrease postnatally. This unique case underscores the adjunctive use of fibroblast and molecular testing in ambiguous cases of SLOS and may provide insight into the potential efficacy of therapeutic interventions altering postnatal cholesterol biosynthesis. Published 2010 Wiley-Liss, Inc.(dagger)
C1 [Koo, Grace; Conley, Sandra K.; Wassif, Christopher A.; Porter, Forbes D.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Mol Dysmorphol, Program Dev Endocrinol & Genet, DHHS, Bethesda, MD USA.
C3 National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver
   National Institute of Child Health & Human Development (NICHD)
RP Porter, FD (corresponding author), NICHD, PDGEN, NIH, Bld 10,Rm 9D42,10 Ctr Dr, Bethesda, MD 20892 USA.
EM fdporter@mail.nih.gov
RI Koo, Grace/MBH-7223-2025
OI Wassif, Christopher/0000-0002-2524-1420
FU Eunice Kennedy Shriver National Institute of Child Health and Human
   Development
FX This work was supported by the intramural research program of the Eunice
   Kennedy Shriver National Institute of Child Health and Human
   Development.
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NR 20
TC 12
Z9 15
U1 0
U2 0
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD AUG
PY 2010
VL 152A
IS 8
BP 2094
EP 2098
DI 10.1002/ajmg.a.33540
PG 5
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 638VO
UT WOS:000280925800034
PM 20635399
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Wickman, K
   Pu, WT
   Clapham, DE
AF Wickman, K
   Pu, WT
   Clapham, DE
TI Structural characterization of the mouse Girk genes
SO GENE
LA English
DT Article
DE potassium channel; K(ir)3.0; Kcnj; G protein
ID RECTIFYING K+ CHANNELS; MUSCARINIC POTASSIUM CHANNEL; BETA-SUBUNIT;
   EXPRESSION; CLONING; PROMOTER; ELEMENTS; CELLS; RAT; INTERACT
AB Cardiac and neuronal G protein-gated potassium (KG) channels are activated by neurotransmitters such as acetylcholine, opioids, and dopamine. K-G channel activation leads to an inhibition of synaptic transmission. KG channels are tetrameric complexes formed by assembly of G protein-gated, inwardly-rectifying potassium (K+) channel (GIRK) subunits. Four mammalian GIRK subunits (GIRK1-4) have been identified. In this study, we identify key features of the four mouse Girk genes including sequence, intron/exon structures, alternative splicing events, and candidate transcriptional start points. The mouse Girk genes are organized similarly, each containing four to seven exons.) While the mouse Girk1 and Girk2 genes are relatively large (>100 kb), mouse Girk3 and Girk4 genes are compact (<20 kb). Multiple mRNA variants of Girk1, Girk3, and Girk4 were identified, existing by virtue of alternative splicing and/or usage of distinct transcription initiation sites. These findings should facilitate future studies aimed at understanding the transcriptional regulation of KG channels and their potential involvement in disease. (C) 2002 Published by Elsevier Science B.V.
C1 Univ Minnesota, Dept Pharmacol, Minneapolis, MN 55455 USA.
   Childrens Hosp, Howard Hughes Med Inst, Dept Cardiol, Boston, MA USA.
C3 University of Minnesota System; University of Minnesota Twin Cities;
   Howard Hughes Medical Institute; Harvard University; Boston Children's
   Hospital
RP Wickman, K (corresponding author), Univ Minnesota, Dept Pharmacol, 6-120 Jackson Hll 321 Church St SE, Minneapolis, MN 55455 USA.
RI Pu, William/AAJ-8301-2020; Clapham, David/R-5974-2019
OI Wickman, Kevin/0000-0002-5179-9540; Clapham, David/0000-0002-4459-9428;
   Pu, William/0000-0002-4551-8079
FU NHLBI NIH HHS [T32 HL007572] Funding Source: Medline; NIMH NIH HHS
   [R01MH61933, R01 MH061933] Funding Source: Medline
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NR 40
TC 22
Z9 27
U1 0
U2 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD FEB 6
PY 2002
VL 284
IS 1-2
BP 241
EP 250
AR PII S0378-1119(01)00884-8
DI 10.1016/S0378-1119(01)00884-8
PG 10
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 534QN
UT WOS:000174598100024
PM 11891065
DA 2025-04-10
ER

PT J
AU Dörner, A
   Xiong, DD
   Couch, K
   Yajima, T
   Knowlton, KU
AF Dörner, A
   Xiong, DD
   Couch, K
   Yajima, T
   Knowlton, KU
TI Alternatively spliced soluble coxsackie-adenovirus receptors inhibit
   coxsackievirus infection
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID LEFT-VENTRICULAR DYSFUNCTION; CELLULAR RECEPTOR; IMMUNOGLOBULIN
   SUPERFAMILY; CHROMOSOMAL LOCALIZATION; ADHESION MOLECULES; EXPRESSION;
   PROTEIN; MECHANISM; GENE; CAR
AB The coxsackie-adenovirus receptor (CAR) is a transmembrane receptor of the immunoglobulin superfamily whose expression is altered in myocardial and malignant diseases. Soluble isoforms of other adhesion molecules and cytokine receptors have been proven to have significant agonist and antagonist effects on their full-length receptors; however, little is known about soluble CAR receptors. Using reverse transcription-PCR, we identified three CAR isoforms that lack the transmembrane domain and are the result of alternative RNA splicing events between exons IV and VII (CAR4/7), exons III and VII (CAR3/7), and exons II and VII (CAR2/7). The three CAR isoforms contain different regions of the extracellular domain of CAR and have C termini that are distinct from the full-length receptors. These alternatively spliced CAR proteins are released from transfected HeLa cells confirming that they are soluble proteins. In addition, the soluble CAR proteins are able to interact with the bacterially expressed extracellular domain of CAR. In addition, CAR4/7 but not CAR2/7 was found to bind to coxsackievirus B3 (CVB3). Each of the three soluble CAR isoforms is able to inhibit CVB3 infection of transfected HeLa cells. Given that soluble CAR isoforms can bind to the extracellular domain of CAR and the CVB3 capsid, they may have significant inhibitory or stimulatory effects on CAR signaling and may have an important role in the host defense against viral infection.
C1 Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA.
   Charite, Dept Cardiol, D-12200 Berlin, Germany.
C3 University of California System; University of California San Diego;
   Berlin Institute of Health; Free University of Berlin; Humboldt
   University of Berlin; Charite Universitatsmedizin Berlin
RP Univ Calif San Diego, Dept Med, 9500 Gilman Dr, La Jolla, CA 92093 USA.
EM KKnowlton@ucsd.edu
FU NHLBI NIH HHS [5R01HL57365-03] Funding Source: Medline
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NR 38
TC 41
Z9 46
U1 1
U2 2
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD APR 30
PY 2004
VL 279
IS 18
BP 18497
EP 18503
DI 10.1074/jbc.M311754200
PG 7
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 815KP
UT WOS:000221041500050
PM 14978041
OA hybrid
DA 2025-04-10
ER

PT J
AU Ghilardi, N
   Wiestner, A
   Skoda, RC
AF Ghilardi, N
   Wiestner, A
   Skoda, RC
TI Thrombopoietin production is inhibited by a translational mechanism
SO BLOOD
LA English
DT Article
ID C-MPL LIGAND; EUKARYOTIC MESSENGER-RNAS; CHROMOSOMAL LOCALIZATION;
   PLATELET PRODUCTION; SECONDARY STRUCTURE; MOLECULAR-CLONING;
   BONE-MARROW; MEGAKARYOCYTOPOIESIS; THROMBOCYTOPENIA; EXPRESSION
AB Thrombopoietin (TPO) is a lineage-dominant hematopoietic cytokine that regulates megakaryopoiesis and platelet production. The major site of TPO biosynthesis is the liver. Despite easily detectable levels of liver TPO mRNA, the circulating TPO serum levels are very low. We have observed that translation of TPO mRNA is inhibited by the presence of inhibitory elements in the 5'-untranslated region (5'-UTR). Alternative promoter usage and differential splicing generate at least three TPO mRNA isoforms that differ in the composition of their 5'-UTR. Using mutational analysis we show that physiologically the translation of these TPO mRNA isoforms is strongly inhibited by the presence of AUG codons, which define several short open reading frames (ORFs) in the 5'-UTR and suppress efficient initiation at the physiologic start site. The two regularly spliced isoforms, which account for 98% of TPO mRNA, were almost completely inhibited, whereas a rare splice variant that lacks exon 2 can be more efficiently translated. Thus, inhibition of translation of the TPO mRNA is an efficient mechanism to prevent overproduction of this highly potent cytokine. (C) 1998 by The American Society of Hematology.
C1 Univ Basel, Biozentrum, CH-4056 Basel, Switzerland.
C3 University of Basel
RP Skoda, RC (corresponding author), Univ Basel, Biozentrum, Klingelbergstr 70, CH-4056 Basel, Switzerland.
OI Ghilardi, Nico/0000-0003-4945-3097
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NR 48
TC 65
Z9 69
U1 0
U2 0
PU W B SAUNDERS CO
PI PHILADELPHIA
PA INDEPENDENCE SQUARE WEST CURTIS CENTER, STE 300, PHILADELPHIA, PA
   19106-3399 USA
SN 0006-4971
J9 BLOOD
JI Blood
PD DEC 1
PY 1998
VL 92
IS 11
BP 4023
EP 4030
DI 10.1182/blood.V92.11.4023.423k54_4023_4030
PG 8
WC Hematology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology
GA 142HH
UT WOS:000077194300005
PM 9834204
DA 2025-04-10
ER

PT J
AU Liu, ZH
   Hua, JH
   Cai, WQ
   Zhan, Q
   Lai, WY
   Zeng, QC
   Ren, H
   Xu, DL
AF Liu, Zuheng
   Hua, Jinghai
   Cai, Wanqiang
   Zhan, Qiong
   Lai, Wenyan
   Zeng, Qingchun
   Ren, Hao
   Xu, Dingli
TI N-terminal truncated peroxisome proliferator-activated receptor-
   coactivator-1 alleviates phenylephrine-induced mitochondrial dysfunction
   and decreases lipid droplet accumulation in neonatal rat cardiomyocytes
SO MOLECULAR MEDICINE REPORTS
LA English
DT Article
DE N-terminal truncated peroxisome proliferator-activated receptor-
   coactivator-1; peroxisome proliferator-activated receptor-; neonatal rat
   cardiomyocytes; mitochondria; fatty acid; metabolism
ID PGC-1 COACTIVATORS; PROTEIN-KINASE; PGC-1-ALPHA; BIOGENESIS;
   NT-PGC-1-ALPHA; METABOLISM; EXPRESSION; PRESSURE; MUSCLE; HEART
AB N-terminal truncated peroxisome proliferator-activated receptor- coactivator-1 (NT-PGC-1) is an alternative splice variant of PGC-1. NT-PGC-1 exhibits stronger anti-obesity effects in adipose tissue than PGC-1; however, NT-PGC-1 has not yet been investigated in neonatal rat cardiomyocytes (NRCMs). The present study aimed to investigate the role of NT-PGC-1 in mitochondrial fatty acid metabolism and its possible regulatory mechanism in NRCMs. NRCMs were exposed to phenylephrine (PE) or angiotensin II (Ang II) to induce cardiac hypertrophy. Following this, NRCMs were infected with adenovirus expressing NT-PGC-1, and adenosine 5-triphsophate (ATP) levels, reactive oxygen species (ROS) generation and mitochondrial membrane potential were subsequently detected. In addition, western blotting, lipid droplet staining and oxygen consumption assays were performed to examine the function of NT-PGC-1 in fatty acid metabolism. NT-PGC-1 was demonstrated to be primarily expressed in the cytoplasm, which differed from full-length PGC-1, which was predominantly expressed in the nucleus. NT-PGC-1 overexpression alleviated mitochondrial function impairment, including ATP generation, ROS production and mitochondrial membrane potential integrity. Furthermore, NT-PGC-1 overexpression alleviated the PE-induced suppression of fatty acid metabolism-associated protein expression, increased extracellular oxygen consumption and decreased lipid droplet accumulation in NRCMs. Taken together, the present study demonstrated that NT-PGC-1 alleviated PE-induced mitochondrial impairment and decreased lipid droplet accumulation in NRCMs, indicating that NT-PGC-1 may have ameliorated mitochondrial energy defects in NRCMs, and may be considered as a potential target for the treatment of heart failure.
C1 [Liu, Zuheng; Hua, Jinghai; Cai, Wanqiang; Zhan, Qiong; Lai, Wenyan; Zeng, Qingchun; Xu, Dingli] Southern Med Univ, Nanfang Hosp, Dept Cardiol, State Key Lab Organ Failure Res, 1838 Northern Guangzhou Ave, Guangzhou 510515, Guangdong, Peoples R China.
   [Liu, Zuheng; Hua, Jinghai; Cai, Wanqiang; Zhan, Qiong; Lai, Wenyan; Zeng, Qingchun; Ren, Hao; Xu, Dingli] Minist Educ, Key Lab Organ Failure Res, Guangzhou, Guangdong, Peoples R China.
   [Ren, Hao] Southern Med Univ, Nanfang Hosp, Dept Rheumatol, 1838 Northern Guangzhou Ave, Guangzhou 510515, Guangdong, Peoples R China.
C3 Southern Medical University - China; Southern Medical University - China
RP Xu, DL (corresponding author), Southern Med Univ, Nanfang Hosp, Dept Cardiol, State Key Lab Organ Failure Res, 1838 Northern Guangzhou Ave, Guangzhou 510515, Guangdong, Peoples R China.; Ren, H (corresponding author), Southern Med Univ, Nanfang Hosp, Dept Rheumatol, 1838 Northern Guangzhou Ave, Guangzhou 510515, Guangdong, Peoples R China.
EM renhao67@aliyun.com; dinglixu@fimmu.com
RI Li, zhuangzhuang/JAD-1371-2023; Xu, Dingli/AAA-6176-2019
OI Xu, Dingli/0000-0002-3193-4354
FU National Natural Science Foundation of China [81270320]
FX The present study was supported by the National Natural Science
   Foundation of China (grant no. 81270320).
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NR 35
TC 14
Z9 15
U1 0
U2 10
PU SPANDIDOS PUBL LTD
PI ATHENS
PA POB 18179, ATHENS, 116 10, GREECE
SN 1791-2997
EI 1791-3004
J9 MOL MED REP
JI Mol. Med. Rep.
PD AUG
PY 2018
VL 18
IS 2
BP 2142
EP 2152
DI 10.3892/mmr.2018.9158
PG 11
WC Oncology; Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology; Research & Experimental Medicine
GA GP1NU
UT WOS:000440583800110
PM 29901150
OA Green Published, Green Submitted, hybrid
DA 2025-04-10
ER

PT J
AU Houslay, MD
   Baillie, GS
   Maurice, DH
AF Houslay, Miles D.
   Baillie, George S.
   Maurice, Donald H.
TI cAMP-specific phosphodiesterase-4 enzymes in the cardiovascular system -
   A molecular toolbox for generating compartmentalized cAMP signaling
SO CIRCULATION RESEARCH
LA English
DT Review
DE phosphodiesterase-4; cAMP; cardiomyocytes; vascular smooth muscle cells;
   compartmentation; beta(2) adrenoceptor; beta-arrestin
ID VASCULAR SMOOTH-MUSCLE; DEPENDENT PROTEIN-KINASE; N-TERMINAL DOMAIN;
   CYCLIC-AMP PHOSPHODIESTERASE; CARDIAC RYANODINE RECEPTOR; EARLY
   REPRESSOR ICER; MEMBRANE ASSOCIATION; BETA-ARRESTIN; BETA(2)-ADRENERGIC
   RECEPTOR; MEDIATED PHOSPHORYLATION
AB Cyclic AMP regulates a vast number of distinct events in all cells. Early studies established that its hydrolysis by cyclic nucleotide phosphodiesterases (PDEs) controlled both the magnitude and the duration of its influence. Recent evidence shows that PDEs also act as coincident detectors linking cyclic-nucleotide- and non-cyclic-nucleotide-based cellular signaling processes and are tethered with great selectively to defined intracellular structures, thereby integrating and spatially restricting their cellular effects in time and space. Although 11 distinct families of PDEs have been defined, and cells invariably express numerous individual PDE enzymes, a large measure of our increased appreciation of the roles of these enzymes in regulating cyclic nucleotide signaling has come from studies on the PDE4 family. Four PDE4 genes encode more than 20 isoforms. Alternative mRNA splicing and the use of different promoters allows cells the possibility of expressing numerous PDE4 enzymes, each with unique amino-terminal-targeting and/or regulatory sequences. Dominant negative and small interfering RNA-mediated knockdown strategies have proven that particular isoforms can uniquely control specific cellular functions. Thus the protein kinase A phosphorylation status of the beta(2) adrenoceptor and, thereby, its ability to switch its signaling to extracellular signal-regulated kinase activation, is uniquely regulated by PDE4D5 in cardiomyocytes. We describe how cardiomyocytes and vascular smooth muscle cells selectively vary both the expression and the catalytic activities of PDE4 isoforms to regulate their various functions and how altered regulation of these processes can influence the development, or resolution, of cardiovascular pathologies, such as heart failure, as well as various vasculopathies.
C1 Univ Glasgow, Inst Biomed & Life Sci, Div Biochem & Mol Biol, Mol Pharmacol Grp, Glasgow G12 8QQ, Lanark, Scotland.
   Queens Univ, Dept Pharmacol & Toxicol, Kingston, ON K7L 2V7, Canada.
C3 University of Glasgow; Queens University - Canada
RP Houslay, MD (corresponding author), Univ Glasgow, Inst Biomed & Life Sci, Div Biochem & Mol Biol, Mol Pharmacol Grp, Glasgow G12 8QQ, Lanark, Scotland.
EM M.Houslay@bio.gla.ac.uk
RI Houslay, Miles/AAM-5281-2020; Maurice, Donald/AAE-9332-2019
OI Houslay, Miles/0000-0002-3826-8091; Baillie, George/0000-0003-2469-6316
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NR 145
TC 256
Z9 297
U1 0
U2 25
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD APR 13
PY 2007
VL 100
IS 7
BP 950
EP 966
DI 10.1161/01.RES.0000261934.56938.38
PG 17
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 159SL
UT WOS:000245886700007
PM 17431197
OA Bronze
DA 2025-04-10
ER

PT J
AU Jung, P
   Fiedelak, A
   Dreessen, C
   Huber, O
   Reiche, J
AF Jung, Paul
   Fiedelak, Andre
   Dreessen, Celina
   Huber, Otmar
   Reiche, Juliane
TI Identification of Novel Nexilin Splice Variants in Mouse and Human
   Tissues
SO CELLS
LA English
DT Article
DE nexilin; heart maturation; splicing; isoform; F-actin; T-tubule;
   epithelium
ID TRANSVERSE TUBULES; ATRIAL; EXPRESSION; MUTATIONS; NEXN
AB There is no doubt that the proper development of the heart is important for its correct function, in addition, maturation processes of the heart are crucial as well. The actin-binding protein nexilin seems to take over central roles in the latter processes, as nexilin-deficient mice are phenotypically inconspicuous at birth but die within short time thereafter. Recently, it has been proposed that nexilin plays a role in the formation and function of transverse tubules (T-tubules), which are essential for excitation-contraction coupling in the hearts of mature animals. Although it has long been known that nexilin is subjected to alternative splicing, a molecular characterization of the respective isoforms is not yet available. Here, we describe novel nexilin splice variants and analyze their expression in tissues of mice and humans. Interestingly, nexilin isoforms segregate to myocyte- and epithelial-specific isoforms. Moreover, heart-specific isoforms of nexilin localize differently between atria and ventricles and are also expressed in the endothelial cells of blood vessels. Further, we narrowed down the critical exons in the actin-binding domains 1 and 2 (ABD1/2), and observed different self-interaction properties by recombinant protein interaction studies. Our results emphasize the diverse tissue and subcellular distribution of the individual nexilin isoforms and point to the importance of taking a closer look at the particular nexilin isoforms investigated.
C1 [Jung, Paul; Fiedelak, Andre; Dreessen, Celina; Huber, Otmar; Reiche, Juliane] Friedrich Schiller Univ Jena, Jena Univ Hosp, Inst Biochem 2, Nonnenplan 2-4, D-07743 Jena, Germany.
   [Jung, Paul] Friedrich Schiller Univ Jena, Jena Univ Hosp, Inst Gen Practice & Family Med, Bachstr 18, D-07743 Jena, Germany.
   [Fiedelak, Andre] Friedrich Schiller Univ Jena, Jena Univ Hosp, Dept Urol, Klinikum 1, D-07745 Jena, Germany.
C3 Friedrich Schiller University of Jena; Friedrich Schiller University of
   Jena; Friedrich Schiller University of Jena
RP Reiche, J (corresponding author), Friedrich Schiller Univ Jena, Jena Univ Hosp, Inst Biochem 2, Nonnenplan 2-4, D-07743 Jena, Germany.
EM paul.jung@med.uni-jena.de; andre.fiedelak@med.uni-jena.de;
   celina.dreessen@uni-jena.de; otmar.huber@med.uni-jena.de;
   juliane.reiche@med.uni-jena.de
FU Interdisciplinary Center for Medical Research [AMSP09];
   Interdisciplinary Center for Medical Research (IZKF); IZKF Jena
FX This research was supported by the Interdisciplinary Center for Medical
   Research (IZKF, AMSP09) Jena. P.J. and A.F. were funded by IZKF Jena.
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NR 29
TC 0
Z9 0
U1 0
U2 0
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2073-4409
J9 CELLS-BASEL
JI Cells
PD DEC
PY 2024
VL 13
IS 23
AR 2018
DI 10.3390/cells13232018
PG 25
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA P2F0A
UT WOS:001376121300001
PM 39682766
OA gold
DA 2025-04-10
ER

PT J
AU Hua, YM
   Sahashi, K
   Hung, GN
   Rigo, F
   Passini, MA
   Bennett, CF
   Krainer, AR
AF Hua, Yimin
   Sahashi, Kentaro
   Hung, Gene
   Rigo, Frank
   Passini, Marco A.
   Bennett, C. Frank
   Krainer, Adrian R.
TI Antisense correction of SMN2 splicing in the CNS rescues necrosis in a
   type III SMA mouse model
SO GENES & DEVELOPMENT
LA English
DT Article
DE Spinal muscular atrophy; SMN2; antisense oligonucleotide; splicing
   correction; spinal cord; mouse models
ID SPINAL MUSCULAR-ATROPHY; SURVIVAL MOTOR-NEURON; CENTRAL-NERVOUS-SYSTEM;
   FULL-LENGTH SMN; PHOSPHOROTHIOATE OLIGODEOXYNUCLEOTIDES; MICE; PROTEIN;
   GENE; RNA; DELIVERY
AB Increasing survival of motor neuron 2, centromeric (SMN2) exon 7 inclusion to express more full-length SMN protein in motor neurons is a promising approach to treat spinal muscular atrophy (SMA), a genetic neurode-generative disease. Previously, we identified a potent 2'-O-(2-methoxyethyl) (MOE) phosphorothioate-modified antisense oligonucleotide (ASO) that blocks an SMN2 intronic splicing silencer element and efficiently promotes exon 7 inclusion in transgenic mouse peripheral tissues after systemic administration. Here we address its efficacy in the spinal cord-a prerequisite for disease treatment-and its ability to rescue a mild SMA mouse model that develops tail and ear necrosis, resembling the distal tissue necrosis reported in some SMA infants. Using a micro-osmotic pump, we directly infused the ASO into a lateral cerebral ventricle in adult mice expressing a human SMN2 transgene; the ASO gave a robust and long-lasting increase in SMN2 exon 7 inclusion measured at both the mRNA and protein levels in spinal cord motor neurons. A single embryonic or neonatal intracerebroventricular ASO injection strikingly rescued the tail and ear necrosis in SMA mice. We conclude that this MOE ASO is a promising drug candidate for SMA therapy, and, more generally, that ASOs can be used to efficiently redirect alternative splicing of target genes in the CNS.
C1 [Hua, Yimin; Sahashi, Kentaro; Krainer, Adrian R.] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA.
   [Hung, Gene; Rigo, Frank; Bennett, C. Frank] ISIS Pharmaceut, Carlsbad, CA 92008 USA.
   [Passini, Marco A.] Genzyme Corp, Framingham, MA 01701 USA.
C3 Cold Spring Harbor Laboratory; Isis Pharmaceuticals Inc; Sanofi-Aventis;
   Genzyme Corporation
RP Krainer, AR (corresponding author), Cold Spring Harbor Lab, POB 100, Cold Spring Harbor, NY 11724 USA.
EM krainer@cshl.edu
RI ; Hua, Yimin/U-6911-2018
OI Krainer, Adrian/0000-0001-9024-9501; Hua, Yimin/0000-0003-0905-7989
FU Muscular Dystrophy Association
FX We dedicate this work to the memory of Dr. Hung Li. We gratefully
   acknowledge support from the Muscular Dystrophy Association. We thank
   Chris Lorson and Arthur Burghes for helpful discussions, and Carmelita
   Bautista for help with monoclonal antibody production. G.H., F.R., and
   C.F.B. are employees of Isis Pharmaceutical Corp., and M.A.P. is an
   employee of Genzyme Corp. They may materially benefit either directly or
   indirectly through stock options. Y.H., K.S., and A.R.K., along with
   their employer, Cold Spring Harbor Laboratory, could materially benefit
   if a therapeutic for SMA results from this work. A.R.K. serves on the
   scientific advisory board of two nonprofit SMA foundations, and is a
   consultant for Isis Pharmaceutical Corp.
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NR 58
TC 503
Z9 598
U1 3
U2 42
PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
PI COLD SPRING HARBOR
PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA
SN 0890-9369
EI 1549-5477
J9 GENE DEV
JI Genes Dev.
PD AUG 1
PY 2010
VL 24
IS 15
BP 1634
EP 1644
DI 10.1101/gad.1941310
PG 11
WC Cell Biology; Developmental Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Developmental Biology; Genetics & Heredity
GA 634QE
UT WOS:000280597200010
PM 20624852
OA gold, Green Published, Green Accepted
DA 2025-04-10
ER

PT J
AU Stastna, M
   Van Eyk, JE
AF Stastna, Miroslava
   Van Eyk, Jennifer E.
TI Analysis of protein isoforms: Can we do it better?
SO PROTEOMICS
LA English
DT Review
DE Accurate and complete identification; quantification; Intact protein
   analysis; Novel proteomic approaches; Protein isoforms; splice variants;
   Technology
ID REVERSED-PHASE CHROMATOGRAPHY; ELECTRON-CAPTURE DISSOCIATION;
   ALTERNATIVE SPLICE VARIANTS; TANDEM MASS-SPECTROMETRY; TOP-DOWN
   IDENTIFICATION; HYDROPHOBIC-INTERACTION; LIQUID-CHROMATOGRAPHY; INTACT
   PROTEINS; THROMBOPOIETIN GENE; QUANTIFICATION
AB Protein isoforms/splice variants can play important roles in various biological processes and can potentially be used as biomarkers or therapeutic targets/mediators. Thus, there is a need for efficient and, importantly, accurate methods to distinguish and quantify specific protein isoforms. Since protein isoforms can share a high percentage of amino acid sequence homology and dramatically differ in their cellular concentration, the task for accuracy and efficiency in methodology and instrumentation is challenging. The analysis of intact proteins has been perceived to provide a more accurate and complete result for isoform identification/quantification in comparison to analysis of the corresponding peptides that arise from protein enzymatic digestion. Recently, novel approaches have been explored and developed that can possess the accuracy and reliability important for protein isoform differentiation and isoform-specific peptide targeting. In this review, we discuss the recent development in methodology and instrumentation for enhanced detection of protein isoforms as well as the examples of their biological importance.
C1 [Stastna, Miroslava; Van Eyk, Jennifer E.] Johns Hopkins Univ, Johns Hopkins Bayview Prote Ctr, Dept Med, Div Cardiol,Sch Med, Baltimore, MD 21224 USA.
   [Stastna, Miroslava] ASCR, Inst Analyt Chem, Brno, Czech Republic.
C3 Johns Hopkins University; Czech Academy of Sciences; Institute of
   Analytical Chemistry of the Czech Academy of Sciences
RP Stastna, M (corresponding author), Johns Hopkins Univ, Johns Hopkins Bayview Prote Ctr, Dept Med, Div Cardiol,Sch Med, 5200 Eastern Ave,Mason F Lord Bldg,Ctr Tower,Rm 6, Baltimore, MD 21224 USA.
EM mstastn1@jhmi.edu
RI Stastna, Miroslava/G-9266-2014
OI Van Eyk, Jennifer/0000-0001-9050-148X
FU National Heart, Lung, and Blood Institute Proteomic Initiative
   [NHLBI-HV-10-05 (2)]; NHLBI [PO1 HL10026]; AHA;  [RVO: 68081715]
FX Supported by the National Heart, Lung, and Blood Institute Proteomic
   Initiative - contract NHLBI-HV-10-05 (2) (JEV), by NHLBI PO1 HL10026
   (Glycoconjungates and Cardiovascular Disease) (JEV), by the AHA grant
   in-aid (JEV), and by institutional support RVO: 68081715 (MS).
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NR 106
TC 55
Z9 66
U1 0
U2 47
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1615-9853
EI 1615-9861
J9 PROTEOMICS
JI Proteomics
PD OCT
PY 2012
VL 12
IS 19-20
SI SI
BP 2937
EP 2948
DI 10.1002/pmic.201200161
PG 12
WC Biochemical Research Methods; Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 023ZJ
UT WOS:000310076300005
PM 22888084
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Laurent, FX
   Sureau, A
   Klein, AF
   Trouslard, F
   Gasnier, E
   Furling, D
   Marie, J
AF Laurent, Francois-Xavier
   Sureau, Alain
   Klein, Arnaud F.
   Trouslard, Francois
   Gasnier, Erwan
   Furling, Denis
   Marie, Joelle
TI New function for the RNA helicase p68/DDX5 as a modifier of MBNL1
   activity on expanded CUG repeats
SO NUCLEIC ACIDS RESEARCH
LA English
DT Article
ID PRE-MESSENGER-RNA; MYOTONIC-DYSTROPHY CELLS; 3 UNTRANSLATED REGION;
   TRINUCLEOTIDE REPEAT; THERAPEUTIC STRATEGIES; MUSCLEBLIND PROTEINS;
   STRUCTURAL INSIGHTS; BINDING-PROTEIN; STEADY-STATE; CTG REPEAT
AB Myotonic Dystrophy type I (DM1) is caused by an abnormal expansion of CTG triplets in the 3' UTR of the dystrophia myotonica protein kinase (DMPK) gene, leading to the aggregation of the mutant transcript in nuclear RNA foci. The expanded mutant transcript promotes the sequestration of the MBNL1 splicing factor, resulting in the misregulation of a subset of alternative splicing events. In this study, we identify the DEAD-box RNA helicase p68 (DDX5) in complexes assembled onto in vitro-transcribed CUG repeats. We showed that p68 colocalized with RNA foci in cells expressing the 3'UTR of the DMPK gene containing expanded CTG repeats. We found that p68 increased MBNL1 binding onto pathological repeats and the stem-loop structure regulatory element within the cardiac Troponin T (TNNT2) pre-mRNA, splicing of which is misregulated in DM1. Mutations in the helicase core of p68 prevented both the stimulatory effect of the protein on MBNL1 binding and the colocalization of p68 with CUG repeats, suggesting that remodeling of RNA secondary structure by p68 facilitates MBNL1 binding. We also found that the competence of p68 for regulating TNNT2 exon 5 inclusion depended on the integrity of MBNL1 binding sites. We propose that p68 acts as a modifier of MBNL1 activity on splicing targets and pathogenic RNA.
C1 [Laurent, Francois-Xavier; Sureau, Alain; Trouslard, Francois; Marie, Joelle] CNRS, Ctr Genet Mol, UPR 3404, F-91198 Gif Sur Yvette, France.
   [Laurent, Francois-Xavier; Sureau, Alain; Trouslard, Francois; Marie, Joelle] Univ Paris 11, Orsay, France.
   [Klein, Arnaud F.; Gasnier, Erwan; Furling, Denis] Univ Paris 06, UPMC, Um76, Inst Myol, F-75013 Paris, France.
   [Klein, Arnaud F.; Gasnier, Erwan; Furling, Denis] CNRS, UMR7215, F-75013 Paris, France.
   [Klein, Arnaud F.; Gasnier, Erwan; Furling, Denis] INSERM, U974, F-75013 Paris, France.
C3 Universite Paris Saclay; Centre National de la Recherche Scientifique
   (CNRS); Universite Paris Saclay; Sorbonne Universite; Centre National de
   la Recherche Scientifique (CNRS); Institut National de la Sante et de la
   Recherche Medicale (Inserm)
RP Marie, J (corresponding author), CNRS, Ctr Genet Mol, UPR 3404, Ave Terrasse, F-91198 Gif Sur Yvette, France.
EM marie@cgm.cnrs-gif.fr
RI KLEIN, Arnaud/AAD-3333-2022; Furling, Denis/M-2346-2017; SUREAU,
   Alain/M-1998-2017
OI Furling, Denis/0000-0001-7912-4409; Klein, Arnaud/0000-0002-3860-7049;
   SUREAU, Alain/0000-0003-1523-0207; Laurent,
   Francois-Xavier/0000-0002-9591-7246
FU Centre National de la Recherche Scientifique (CNRS); Association
   Francaise contre les Myopathies (AFM); Paris-Sud University; Fondation
   des Treilles
FX Centre National de la Recherche Scientifique (CNRS); Association
   Francaise contre les Myopathies (AFM); Paris-Sud University, the AFM and
   Fondation des Treilles fellowships (to F.X.L.).
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NR 66
TC 64
Z9 77
U1 0
U2 14
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0305-1048
EI 1362-4962
J9 NUCLEIC ACIDS RES
JI Nucleic Acids Res.
PD APR
PY 2012
VL 40
IS 7
BP 3159
EP 3171
DI 10.1093/nar/gkr1228
PG 13
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 930TQ
UT WOS:000303164400037
PM 22156369
OA Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Faherty, N
   Benson, M
   Sharma, E
   Lee, A
   Howarth, A
   Lockstone, H
   Ebner, D
   Bhattacharya, S
AF Faherty, Noel
   Benson, Matthew
   Sharma, Eshita
   Lee, Angela
   Howarth, Alison
   Lockstone, Helen
   Ebner, Daniel
   Bhattacharya, Shoumo
TI Negative autoregulation of BMP dependent transcription by SIN3B splicing
   reveals a role for RBM39
SO SCIENTIFIC REPORTS
LA English
DT Article
ID BONE MORPHOGENETIC PROTEINS; PRE-MESSENGER-RNA; HISTONE DEACETYLASE;
   EXPRESSION; REGULATORS; SMAD6; IDENTIFICATION; HYPERTENSION;
   COACTIVATOR; INTERACTOME
AB BMP signalling is negatively autoregulated by several genes including SMAD6, Noggin and Gremlin, and autoregulators are possible targets for enhancing BMP signalling in disorders such as fibrosis and pulmonary hypertension. To identify novel negative regulators of BMP signalling, we used siRNA screening in mouse C2C12 cells with a BMP-responsive luciferase reporter. Knockdown of several splicing factors increased BMP4-dependent transcription and target gene expression. Knockdown of RBM39 produced the greatest enhancement in BMP activity. Transcriptome-wide RNA sequencing identified a change in Sin3b exon usage after RBM39 knockdown. SIN3B targets histone deacetylases to chromatin to repress transcription. In mouse, Sin3b produces long and short isoforms, with the short isoform lacking the ability to recruit HDACs. BMP4 induced a shift in SIN3B expression to the long isoform, and this change in isoform ratio was prevented by RBM39 knockdown. Knockdown of long isoform SIN3B enhanced BMP4-dependent transcription, whereas knockdown of the short isoform did not. We propose that BMP4-dependent transcription is negatively autoregulated in part by SIN3B alternative splicing, and that RBM39 plays a role in this process.
C1 [Faherty, Noel; Lee, Angela; Bhattacharya, Shoumo] Univ Oxford, Radcliffe Dept Med, Div Cardiovasc Med, Oxford, England.
   [Faherty, Noel; Benson, Matthew; Sharma, Eshita; Lee, Angela; Lockstone, Helen; Bhattacharya, Shoumo] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
   [Benson, Matthew; Sharma, Eshita; Howarth, Alison; Lockstone, Helen; Ebner, Daniel] Univ Oxford, Nuffield Dept Med, Oxford, England.
   [Howarth, Alison; Ebner, Daniel] Univ Oxford, Target Discovery Inst, Oxford, England.
C3 University of Oxford; University of Oxford; Wellcome Centre for Human
   Genetics; University of Oxford; University of Oxford
RP Bhattacharya, S (corresponding author), Univ Oxford, Radcliffe Dept Med, Div Cardiovasc Med, Oxford, England.; Bhattacharya, S (corresponding author), Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
EM shoumo.bhattacharya@well.ox.ac.uk
RI Bhattacharya, Shoumo/F-4127-2010
OI Faherty, Noel/0000-0002-5092-9411; Bhattacharya,
   Shoumo/0000-0002-5571-0478; Lee, Angela/0000-0002-7591-825X; Benson,
   Matthew/0000-0003-4459-0439; Ebner, Daniel/0000-0002-6495-7026
FU BHF Programme [RG/10/17/28553, RG/11/1/28684]; BHF Centre of Research
   Excellence Award [RE/13/1/30181]; Wellcome Trust [083228,
   090532/Z/09/Z]; BHF Chair Award [CH/09/003/26631]; BHF Oxbridge Centre
   of Regenerative Medicine [RM/13/3/30159]
FX We thank Christian Siebold for the BRE-luc C2C12 line and Peter ten
   Dijke for the BRE-luc reporter. This work was supported by BHF Programme
   Grants RG/10/17/28553 and RG/11/1/28684, BHF Centre of Research
   Excellence Award RE/13/1/30181, Wellcome Trust Program Grant (083228)
   and a Wellcome Trust Core Award (090532/Z/09/Z). S.B. is supported by a
   BHF Chair Award (CH/09/003/26631) and the BHF Oxbridge Centre of
   Regenerative Medicine (RM/13/3/30159). Sequencing data was generated by
   the High-Throughput Genomics Group at the Wellcome Trust Centre for
   Human Genetics.
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NR 56
TC 9
Z9 9
U1 0
U2 8
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD JUN 21
PY 2016
VL 6
AR 28210
DI 10.1038/srep28210
PG 12
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA DP1BW
UT WOS:000378226400001
PM 27324164
OA Green Published, gold, Green Submitted
DA 2025-04-10
ER

PT J
AU Srinivasan, R
   Bogdanov, VY
AF Srinivasan, Ramprasad
   Bogdanov, Vladimir Y.
TI Alternatively spliced tissue factor: discovery, insights, clinical
   implications
SO FRONTIERS IN BIOSCIENCE-LANDMARK
LA English
DT Article
DE Tissue Factor; alternative splicing; cardiovascular disorders; cancer
   pathobiology; integrins; angiogenesis; monocyte-EC interactions; SR
   proteins; Review
ID FACTOR PATHWAY INHIBITOR; HUMAN ENDOTHELIAL-CELLS; FACTOR EXPRESSION;
   MESSENGER-RNA; BLOOD THROMBOGENICITY; CIRCULATING BLOOD; PREMESSENGER
   RNA; TOPOISOMERASE-I; LUNG-CANCER; WHOLE-BLOOD
AB Following the molecular cloning of human Tissue Factor (TF) in mid-1980's, great strides have been made in the understanding of TF biology, TF's crucial roles in the initiation of blood coagulation and embryonic development, and TF's contribution to the pathobiology of various disease states. The 21(st) century brought about a rather unexpected turn in the "TF journey" - a few years back it was reported that the TF gene produces not one, but two proteins with distinct structural and functional characteristics. The so-called "full-length TF" (flTF) - a much-studied integral membrane glycoprotein long presumed to be, and experimentally handled as "the TF" in hundreds of laboratories around the world - is now known to be one of the two TF forms naturally occurring in humans as well as mice. The other, recently discovered form is termed alternatively spliced TF (asTF) which, unlike flTF, lacks a transmembrane domain and can thus be secreted. In this review, we summarize the literature on asTF by discussing asTF's biologic roles as they are currently understood, tackling a number of questions pertaining to asTF's evident and proposed biologic properties, and briefly covering the emerging field of regulated TF pre-mRNA processing.
C1 [Srinivasan, Ramprasad; Bogdanov, Vladimir Y.] Univ Cincinnati, Coll Med, Div Hematol Oncol, Dept Internal Med, Cincinnati, OH 45267 USA.
C3 University System of Ohio; University of Cincinnati
RP Bogdanov, VY (corresponding author), Univ Cincinnati, Coll Med, Div Hematol Oncol, Dept Internal Med, 3125 Eden Ave, Cincinnati, OH 45267 USA.
EM vladimir.bogdanov@uc.edu
OI Bogdanov, Vladimir/0000-0003-4968-1129
FU NIH [HL094891]
FX This work was partially supported by NIH grant HL094891 to V.Y.B. The
   authors thank Prof. Ursula Rauch (Charite-Berlin, Germany) for providing
   the specimens of aortic plaques, and Prof. John T. Fallon III (New York
   Medical College, Valhalla, NY) for providing the specimens of PDAC
   lesions.
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NR 71
TC 6
Z9 7
U1 0
U2 0
PU FRONTIERS IN BIOSCIENCE INC
PI IRVINE
PA 16471 SCIENTIFIC WAY, IRVINE, CA 92618 USA
SN 1093-9946
EI 1093-4715
J9 FRONT BIOSCI-LANDMRK
JI Front. Biosci.
PD JUN 1
PY 2011
VL 16
BP 3061
EP 3071
DI 10.2741/3899
PG 11
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 757OM
UT WOS:000290097600014
PM 21622222
OA Bronze
DA 2025-04-10
ER

PT J
AU Canizales-Quinteros, S
   Aguilar-Salinas, CA
   Huertas-Vázquez, A
   Ordóñez-Sánchez, ML
   Rodríguez-Torres, M
   Venturas-Gallegos, JL
   Riba, L
   Ramírez-Jimenez, S
   Salas-Montiel, R
   Medina-Palacios, G
   Robles-Osorio, L
   Miliar-García, A
   Rosales-León, L
   Ruiz-Ordaz, BH
   Zentella-Dehesa, A
   Ferré-D'Amare, A
   Gómez-Pérez, FJ
   Tusié-Luna, MT
AF Canizales-Quinteros, S
   Aguilar-Salinas, CA
   Huertas-Vázquez, A
   Ordóñez-Sánchez, ML
   Rodríguez-Torres, M
   Venturas-Gallegos, JL
   Riba, L
   Ramírez-Jimenez, S
   Salas-Montiel, R
   Medina-Palacios, G
   Robles-Osorio, L
   Miliar-García, A
   Rosales-León, L
   Ruiz-Ordaz, BH
   Zentella-Dehesa, A
   Ferré-D'Amare, A
   Gómez-Pérez, FJ
   Tusié-Luna, MT
TI A novel ARH splice site mutation in a Mexican kindred with autosomal
   recessive hypercholesterolemia
SO HUMAN GENETICS
LA English
DT Article
ID HUMAN APOLIPOPROTEIN-E; FAMILIAL HYPERCHOLESTEROLEMIA;
   MOLECULAR-MECHANISMS; SEQUENCE ALIGNMENT; GENETIC-ANALYSIS; PROTEIN;
   RECEPTOR; DATABASE; RNA; EXPRESSION
AB Autosomal recessive hypercholesterolemia (ARH) is characterized by elevated LDL serum levels, xanthomatosis, and premature coronary artery disease. Three loci have been described for this condition (1p35, 15q25-q26 and 13q). Recently, the responsible gene at the 1p35 locus, encoding an LDL receptor adaptor protein (ARH) has been identified. We studied a Mexican ARH family with two affected siblings. Sequence analysis of the ARH gene (1p35 locus) revealed that the affected siblings are homozygous for a novel mutation (IVS4+2T>G) affecting the donor splice site in intron 4, whereas both the parents and an unaffected sister are heterozygous for this mutation. The IVS4+2T>G mutation results in a major alternative transcript derived from a cryptic splice site, which carries an in-frame deletion of 78 nucleotides in the mature mRNA. The translation of this mRNA yields a mutant protein product (ARH-26) lacking 26 amino acids, resulting in the loss of beta-strands beta6 and beta7 from the PTB domain. This is the first case where a naturally occurring mutant with an altered PTB domain has been identified.
C1 Univ Nacl Autonoma Mexico, Inst Invest Biomed, Unidad Biol Mol & Med Genom, Mexico City 14000, DF, Mexico.
   Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Endocrinol & Metab Lipidos, Mexico City 14000, DF, Mexico.
   Univ Nacl Autonoma Mexico, Inst Fisiol Celular, Dept Biol Celular, Mexico City 04510, DF, Mexico.
   Univ Nacl Autonoma Mexico, Inst Invest Biomed, Dept Mol Biol & Biotechnol, Mexico City 14000, DF, Mexico.
   Inst Politecn Nacl, Escuela Super Med, Secc Estudios Posgrado & Invest, Mexico City, DF, Mexico.
   Fred Hutchinson Canc Res Ctr, Div Basic Sci, Seattle, WA 98104 USA.
C3 Universidad Nacional Autonoma de Mexico; Instituto Nacional de Ciencias
   Medicas y Nutricion Salvador Zubiran - Mexico; Universidad Nacional
   Autonoma de Mexico; Universidad Nacional Autonoma de Mexico; Instituto
   Politecnico Nacional - Mexico; Fred Hutchinson Cancer Center
RP Univ Nacl Autonoma Mexico, Inst Invest Biomed, Unidad Biol Mol & Med Genom, Vasco Quiroga 15 Colonia Secc 16, Mexico City 14000, DF, Mexico.
EM cani@servidor.unam.mx; tusie@servidor.unam.mx
RI Robles-Osorio, Ma/O-7786-2017; Zentella-Dehesa, Alejandro/AAW-1647-2020;
   MILIAR-GARCIA, ANGEL/MIO-5353-2025; Salinas, Carlos/HSA-8329-2023
OI Robles-Osorio, Ma Ludivina/0000-0002-3566-4646; Ferre-D'Amare, Adrian
   R./0000-0003-4549-1619
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NR 34
TC 16
Z9 18
U1 1
U2 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0340-6717
EI 1432-1203
J9 HUM GENET
JI Hum. Genet.
PD JAN
PY 2005
VL 116
IS 1-2
BP 114
EP 120
DI 10.1007/s00439-004-1192-9
PG 7
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 890ZX
UT WOS:000226552200014
PM 15599766
DA 2025-04-10
ER

PT J
AU Greaser, ML
   Warren, CM
   Esbona, K
   Guo, W
   Duan, YL
   Parrish, AM
   Krzesinski, PR
   Norman, HS
   Dunning, S
   Fitzsimons, DP
   Moss, RL
AF Greaser, Marion L.
   Warren, Chad M.
   Esbona, Karla
   Guo, Wei
   Duan, Yingli
   Parrish, Amanda M.
   Krzesinski, Paul R.
   Norman, Holly S.
   Dunning, Sandra
   Fitzsimons, Daniel P.
   Moss, Richard L.
TI Mutation that dramatically alters rat titin isoform expression and
   cardiomyocyte passive tension
SO JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
LA English
DT Article
DE titin; alternative splicing; isoforms; passive tension; heart
ID DEVELOPMENTAL-CHANGES; CARDIAC-MUSCLE; STIFFNESS; PROTEINS; GENE;
   SEQUENCE; FAILURE; MODEL
AB Titin is a very large alternatively spliced protein that performs multiple functions in heart and skeletal muscles. A rat strain is described with an autosomal dominant mutation that alters the isoform expression of titin. While wild type animals go through a developmental program where the 3.0 MDa N2B becomes the major isoform expressed by two to three weeks after birth (-85%), the appearance of the N2B is markedly delayed in heterozygotes and never reaches more than 50% of the titin in the adult. Homozygote mutants express a giant titin of the N2BA isoform type (3.9 MDa) that persists as the primary titin species through ages of more than one and a half years. The mutation does not affect the isoform switching of troponin T, a protein that is also alternatively spliced with developmental changes. The basis for the apparently greater size of the giant titin in homozygous mutants was not determined, but the additional length was not due to inclusion of sequence from larger numbers of PEVK exons or the Novex III exon. Passive tension measurements using isolated cardiomyocytes from homozygous mutants showed that cells could be stretched to sarcomere lengths greater than 4 mu m without breakage. This novel rat model should be useful for exploring the potential role of titin in the Frank-Starling relationship and mechano-sensing/signaling mechanisms. (c) 2008 Elsevier Inc. All rights reserved.
C1 [Greaser, Marion L.; Warren, Chad M.; Esbona, Karla; Guo, Wei; Duan, Yingli; Parrish, Amanda M.; Krzesinski, Paul R.] Univ Wisconsin, Muscle Biol Lab, Madison, WI 53706 USA.
   [Norman, Holly S.; Dunning, Sandra; Fitzsimons, Daniel P.; Moss, Richard L.] Univ Wisconsin, Dept Physiol, Madison, WI 53706 USA.
C3 University of Wisconsin System; University of Wisconsin Madison;
   University of Wisconsin System; University of Wisconsin Madison
RP Greaser, ML (corresponding author), Univ Wisconsin, Muscle Biol Lab, 1805 Linden Dr, Madison, WI 53706 USA.
EM mgreaser@ansci.wisc.edu
RI guo, wei/E-8906-2012; Greaser, Marion/C-6147-2012
OI guo, wei/0000-0002-9158-8107; Krzesinski, Pawel/0000-0003-1909-0993;
   Esbona, Karla/0000-0002-6262-0024
FU NHLBI NIH HHS [R01 HL077196-03, R37 HL82900, R37 HL082900-03, R01
   HL77196, R37 HL082900, R01 HL077196, R37 HL082900-02] Funding Source:
   Medline
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NR 41
TC 58
Z9 70
U1 0
U2 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0022-2828
EI 1095-8584
J9 J MOL CELL CARDIOL
JI J. Mol. Cell. Cardiol.
PD JUN
PY 2008
VL 44
IS 6
BP 983
EP 991
DI 10.1016/j.yjmcc.2008.02.272
PG 9
WC Cardiac & Cardiovascular Systems; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Cell Biology
GA 328RV
UT WOS:000257816400007
PM 18387630
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Ye, JM
   Llorian, M
   Cardona, M
   Rongvaux, A
   Moubarak, RS
   Comella, JX
   Bassel-Duby, R
   Flavell, RA
   Olson, EN
   Smith, CWJ
   Sanchis, D
AF Ye, Junmei
   Llorian, Miriam
   Cardona, Maria
   Rongvaux, Anthony
   Moubarak, Rana S.
   Comella, Joan X.
   Bassel-Duby, Rhonda
   Flavell, Richard A.
   Olson, Eric N.
   Smith, Christopher W. J.
   Sanchis, Daniel
TI A pathway involving HDAC5, cFLIP and caspases regulates expression of
   the splicing regulator polypyrimidine tract binding protein in the heart
SO JOURNAL OF CELL SCIENCE
LA English
DT Article
DE Cardiomyocyte; Differentiation; Polypyrimidine tract binding protein;
   Myocyte Enhancer Factor-2; Gene expression
ID MYOCYTE ENHANCER FACTOR-2; TRANSCRIPTION FACTOR; MUSCLE DIFFERENTIATION;
   CARDIAC MORPHOGENESIS; HISTONE DEACETYLASES; RNA; PTB; APOPTOSIS; DEATH;
   CARDIOMYOCYTES
AB Polypyrimidine tract binding protein (PTB) regulates pre-mRNA splicing, having special relevance for determining gene expression in the differentiating muscle. We have previously shown that PTB protein abundance is progressively reduced during heart development without reduction of its own transcript. Simultaneous reduction of histone deacetylase (HDAC) expression prompted us to investigate the potential link between these events. HDAC5-deficient mice have reduced cardiac PTB protein abundance, and HDAC inhibition in myocytes causes a reduction in endogenous expression of cellular FLICE-like inhibitory protein (cFLIP) and caspase-dependent cleavage of PTB. In agreement with this, cardiac PTB expression is abnormally high in mice with cardiac-specific executioner caspase deficiency, and cFLIP overexpression prevents PTB cleavage in vitro. Caspase-dependent cleavage triggers further fragmentation of PTB, and these fragments accumulate in the presence of proteasome inhibitors. Experimental modification of the above processes in vivo and in vitro results in coherent changes in the alternative splicing of genes encoding tropomyosin-1 (TPM1), tropomyosin-2 (TPM2) and myocyte enhancer factor-2 (MEF2). Thus, we report a pathway connecting HDAC, cFLIP and caspases regulating the progressive disappearance of PTB, which enables the expression of the adult variants of proteins involved in the regulation of contraction and transcription during cardiac muscle development.
C1 [Ye, Junmei; Cardona, Maria; Sanchis, Daniel] Univ Lleida IRBLLEIDA, Dept Ciencies Med Basiques, Lleida 25198, Spain.
   [Llorian, Miriam; Smith, Christopher W. J.] Univ Cambridge, Dept Biochem, Cambridge CB2 1QW, England.
   [Rongvaux, Anthony; Flavell, Richard A.] Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT 06520 USA.
   [Rongvaux, Anthony; Flavell, Richard A.] Yale Univ, Sch Med, Howard Hughes Med Inst, New Haven, CT 06520 USA.
   [Moubarak, Rana S.; Comella, Joan X.] Univ Vall dHebro UAB, Inst Recerca Hosp, Ciberned, Barcelona 08035, Spain.
   [Bassel-Duby, Rhonda; Olson, Eric N.] Univ Texas SW Med Ctr Dallas, Dept Mol Biol, Dallas, TX 75390 USA.
C3 Universitat de Lleida; University of Cambridge; Yale University; Yale
   University; Howard Hughes Medical Institute; CIBERNED; University of
   Texas System; University of Texas Southwestern Medical Center Dallas
RP Sanchis, D (corresponding author), Univ Lleida IRBLLEIDA, Dept Ciencies Med Basiques, Av Rovira Roure 80, Lleida 25198, Spain.
EM daniel.sanchis@cmb.udl.cat
RI Olson, Eric/B-4391-2013; Flavell, Richard/ACH-3245-2022; Bassel-Duby,
   Rhonda/HJP-5742-2023; Sanchis, Daniel/C-8077-2009; Comella,
   Joan/D-7333-2012
OI Bassel-Duby, Rhonda/0000-0001-7568-410X; Sanchis,
   Daniel/0000-0003-0047-8533; Moubarak, Rana/0000-0003-2096-1258; Olson,
   Eric N./0000-0003-1151-8262; Comella, Joan/0000-0002-6218-0786
FU Ministerio de Ciencia e Innovacio'n (MICINN) [SAF2010_19125]; 'Ramon y
   Cajal' Program from MICINN; Agencia de Gestio 'd' Ajuts Universitaris i
   de Recerca (AGAUR) [2009SGR-346]; Wellcome Trust [092900]; Howard Hughes
   Medical Institute; National Institutes of Health; Donald W. Reynolds
   Center for Clinical Cardiovascular Research; Leducq Foundation and the
   Robert A. Welch Foundation
FX This work was partially supported by the Ministerio de Ciencia e
   Innovacio'n (MICINN) [grant number SAF2010_19125 to D.S.]; the 'Ramon y
   Cajal' Program from MICINN (to D.S.); the Agencia de Gestio 'd' Ajuts
   Universitaris i de Recerca (AGAUR) [grant number 2009SGR-346 to J.X.C.
   and D.S.]; and the Wellcome Trust [programme grant number 092900 to
   C.W.J.S]. R.A.F. is an investigator of the Howard Hughes Medical
   Institute. Work done in the laboratory of E.N.O. was supported by grants
   from the National Institutes of Health, the Donald W. Reynolds Center
   for Clinical Cardiovascular Research, the Leducq Foundation and the
   Robert A. Welch Foundation. Deposited in PMC for release after 6 months.
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NR 46
TC 20
Z9 21
U1 0
U2 13
PU COMPANY OF BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL,
   CAMBS, ENGLAND
SN 0021-9533
J9 J CELL SCI
JI J. Cell Sci.
PD APR 1
PY 2013
VL 126
IS 7
BP 1682
EP 1691
DI 10.1242/jcs.121384
PG 10
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 142DB
UT WOS:000318775400014
PM 23424201
OA Green Published
DA 2025-04-10
ER

PT J
AU Misquitta, CM
   Ghosh, P
   Mwanjewe, J
   Grover, AK
AF Misquitta, CM
   Ghosh, P
   Mwanjewe, J
   Grover, AK
TI Control of SERCA2a Ca<SUP>2+</SUP> pump mRNA stability by nuclear
   proteins:: role of domains in the 3'-untranslated region
SO CELL CALCIUM
LA English
DT Article
DE alternative splicing; 3'-untranslated region; mRNA decay; SERCA2a;
   cardiac myocytes; nuclear proteins
ID A+U-RICH ELEMENTS; ADENOVIRAL GENE-TRANSFER; 3'-UNTRANSLATED REGION;
   SMOOTH-MUSCLE; MAMMALIAN-CELLS; DEGRADATION; DESTABILIZATION;
   IDENTIFICATION; TURNOVER; TARGETS
AB Alternative splicing of the sarco/endoplasmic reticulum (SERCA2) Ca2+ pump transcript generates the two isoforms: SERCA2a in left ventricular myocytes (LVM) and SERCA2b in most tissues. Nuclear protein extracts from left ventricular myocytes can cause a decay of the 3'-region of the SERCA2a. To determine if all the domains in the 800 b SERCA2a 3'-end region (3344-4243) are equally stable, we examined in vitro decay of synthetically capped, polyadenylated overlapping RNA fragments 2A1-2A6 from the Y-end region of SERCA2a. Whereas 2A1-2A5 RNAs were stable. the distal fragment 2A6 (4135-4243 b) decayed rapidly. Deleting the 2A6 sequence from the 800-b 3'-end region increased its stability. In mobility shift assays, 2A6 bound to protein(s) in the LVM nuclear extracts in a specific manner: unlabelled 2A6 or the 800 b 3'-region RNA competed for binding but poly A, poly U, and poly C RNA did not. Secondary structure analysis revealed three hairpin loops in 2A6. Experiments using small synthetic RNA fragments for competition with 2A6 binding to nuclear proteins were consistent with a model involving the three hairpin loops. Thus, the secondary structure of the distal domain of SERCA2a RNA may be important in regulating its stability. (C) 2004 Elsevier Ltd. All rights reserved.
C1 McMaster Univ, Dept Med, Hamilton, ON L8N 3Z5, Canada.
   McMaster Univ, Dept Biol, Hamilton, ON L8N 3Z5, Canada.
C3 McMaster University; McMaster University
RP McMaster Univ, Dept Med, HSC 4N41,1200 Main St W, Hamilton, ON L8N 3Z5, Canada.
EM groverak@mcmaster.ca
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NR 32
TC 6
Z9 8
U1 0
U2 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0143-4160
EI 1532-1991
J9 CELL CALCIUM
JI Cell Calcium
PD JAN
PY 2005
VL 37
IS 1
BP 17
EP 24
DI 10.1016/j.ceca.2004.06.003
PG 8
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA 877AX
UT WOS:000225541300003
PM 15541460
DA 2025-04-10
ER

PT J
AU Tahmasebi, S
   Jafarnejad, SM
   Tam, IS
   Gonatopoulos-Pournatzis, T
   Matta-Camacho, E
   Tsukumo, Y
   Yanagiya, A
   Li, WC
   Atlasi, Y
   Caron, M
   Braunschweig, U
   Pearl, D
   Khoutorsky, A
   Gkogkas, CG
   Nadon, R
   Bourque, G
   Yang, XJ
   Tian, B
   Stunnenberg, HG
   Yamanaka, Y
   Blencowe, BJ
   Giguère, V
   Sonenberg, N
AF Tahmasebi, Soroush
   Jafarnejad, Seyed Mehdi
   Tam, Ingrid S.
   Gonatopoulos-Pournatzis, Thomas
   Matta-Camacho, Edna
   Tsukumo, Yoshinori
   Yanagiya, Akiko
   Li, Wencheng
   Atlasi, Yaser
   Caron, Maxime
   Braunschweig, Ulrich
   Pearl, Dana
   Khoutorsky, Arkady
   Gkogkas, Christos G.
   Nadon, Robert
   Bourque, Guillaume
   Yang, Xiang-Jiao
   Tian, Bin
   Stunnenberg, Hendrik G.
   Yamanaka, Yojiro
   Blencowe, Benjamin J.
   Giguere, Vincent
   Sonenberg, Nahum
TI Control of embryonic stem cell self-renewal and differentiation via
   coordinated alternative splicing and translation of YY2
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
   AMERICA
LA English
DT Article
DE mRNA translation; 4E-BPs; PTBP; embryonic stem cell; YY2
ID YIN-YANG 1; GENOME-WIDE ANALYSIS; TRANSCRIPTION FACTOR YY2;
   PROTEIN-SYNTHESIS; INTRON RETENTION; RETINOIC ACID; IN-VIVO; CARDIAC
   DIFFERENTIATION; REGULATORY ELEMENTS; SKELETAL-MUSCLE
AB Translational control of gene expression plays a key role during the early phases of embryonic development. Here we describe a transcriptional regulator of mouse embryonic stem cells (mESCs), Yin-yang 2 (YY2), that is controlled by the translation inhibitors, Eukaryotic initiation factor 4E-binding proteins (4E-BPs). YY2 plays a critical role in regulating mESC functions through control of key pluripotency factors, including Octamer-binding protein 4 (Oct4) and Estrogen-related receptor-beta (Esrrb). Importantly, overexpression of YY2 directs the differentiation of mESCs into cardiovascular lineages. We show that the splicing regulator Polypyrimidine tract-binding protein 1 (PTBP1) promotes the retention of an intron in the 5'-UTR of Yy2 mRNA that confers sensitivity to 4E-BP-mediated translational suppression. Thus, we conclude that YY2 is a major regulator of mESC self-renewal and lineage commitment and document a multilayer regulatory mechanism that controls its expression.
C1 [Tahmasebi, Soroush; Jafarnejad, Seyed Mehdi; Tam, Ingrid S.; Matta-Camacho, Edna; Tsukumo, Yoshinori; Yanagiya, Akiko; Pearl, Dana; Yang, Xiang-Jiao; Yamanaka, Yojiro; Giguere, Vincent] McGill Univ, Goodman Canc Res Ctr, Montreal, PQ H3A 1A3, Canada.
   [Tahmasebi, Soroush; Jafarnejad, Seyed Mehdi; Tam, Ingrid S.; Matta-Camacho, Edna; Tsukumo, Yoshinori; Yanagiya, Akiko; Pearl, Dana; Yang, Xiang-Jiao; Giguere, Vincent; Sonenberg, Nahum] McGill Univ, Dept Biochem, Montreal, PQ H3A 1A3, Canada.
   [Gonatopoulos-Pournatzis, Thomas; Braunschweig, Ulrich; Blencowe, Benjamin J.; Sonenberg, Nahum] Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.
   [Li, Wencheng; Tian, Bin] Rutgers New Jersey Med Sch, Dept Microbiol Biochem & Mol Genet, Newark, NJ 07103 USA.
   [Atlasi, Yaser; Stunnenberg, Hendrik G.] Radboud Univ Nijmegen, Fac Sci, Dept Mol Biol, NL-6525 GA Nijmegen, Netherlands.
   [Caron, Maxime; Nadon, Robert; Bourque, Guillaume; Yamanaka, Yojiro] McGill Univ, Dept Human Genet, Montreal, PQ H3A 1A3, Canada.
   [Caron, Maxime; Nadon, Robert; Bourque, Guillaume] McGill Univ, Montreal, PQ H3A 0G1, Canada.
   [Caron, Maxime; Nadon, Robert; Bourque, Guillaume] Genome Quebec Innovat Ctr, Montreal, PQ H3A 0G1, Canada.
   [Khoutorsky, Arkady] McGill Univ, Dept Anesthesia, Montreal, PQ H3G 1Y6, Canada.
   [Gkogkas, Christos G.] Univ Edinburgh, Ctr Integrat Physiol, Patrick Wild Ctr, Edinburgh EH8 9XD, Midlothian, Scotland.
   [Yang, Xiang-Jiao; Giguere, Vincent] McGill Univ, Dept Med, Ctr Hlth, Montreal, PQ H3A 1A3, Canada.
   [Blencowe, Benjamin J.] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada.
   [Tsukumo, Yoshinori] Natl Inst Hlth Sci, Div Mol Target & Gene Therapy Prod, Setagaya Ku, Tokyo 1588501, Japan.
C3 McGill University; McGill University; University of Toronto; Rutgers
   University System; Rutgers University New Brunswick; Rutgers University
   Biomedical & Health Sciences; Radboud University Nijmegen; McGill
   University; McGill University; McGill University; University of
   Edinburgh; McGill University; University of Toronto; National Institute
   of Health Sciences - Japan
RP Sonenberg, N (corresponding author), McGill Univ, Dept Biochem, Montreal, PQ H3A 1A3, Canada.; Sonenberg, N (corresponding author), Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.
EM nahum.sonenberg@mcgill.ca
RI Gkogkas, Christos/GQH-2659-2022; Atlasi, Yaser/AAI-5396-2021;
   Braunschweig, Ulrich/I-1070-2019; Sonenberg, Nahum/AFN-8144-2022;
   Stunnenberg, Hendrik/D-6875-2012; Bourque, Guillaume/AFR-2927-2022;
   Jafarnejad, Sadegh/D-2075-2018
OI Giguere, Vincent/0000-0001-9567-3694; Yamanaka,
   Yojiro/0000-0003-1483-8691; Caron, Maxime/0000-0002-3733-5723; Yanagiya,
   Akiko/0000-0002-5553-0311; Braunschweig, Ulrich/0000-0001-6653-0926;
   Gkogkas, Christos G./0000-0001-6281-3419; Khoutorsky,
   Arkady/0000-0003-3846-8728; Matta Camacho, Edna
   Patricia/0000-0003-0683-3612; Jafarnejad, Seyed
   Mehdi/0000-0002-5129-7081; Atlasi, Yaser/0000-0002-7350-1784;
   Gonatopoulos-Pournatzis, Thomas/0000-0003-2669-2570
FU Canadian Institutes of Health Research CIHR [MOP-142200, MOP-125885,
   MOP-115090, MOP-111197, MOP-14609]; CIHR Postdoctoral fellowship;
   Richard and Edith Strauss fellowship; Human Frontier Science Program
   Long Term Fellowship; EMBO (European Molecular Biology Organization)
   Fellowship; Ontario Institute for Regenerative Medicine Fellowship;
   Grants-in-Aid for Scientific Research [16K18444] Funding Source: KAKEN
FX We thank Martin Klar, Tommy Alain, Joshua Dunn, Jelena Popic, and Ola
   Larsson for discussions; Serge Gueroussov, Bushra Raj, and Vinagolu
   Rajasekhar for reagents; Joseph Marcotrigiano for the HEK293H cell line;
   and Annie Sylvestre and Annik Lafrance for animal care. This work was
   supported by Canadian Institutes of Health Research CIHR Grants
   MOP-142200 (to N.S.), MOP-125885 (to V.G.), MOP-115090 (to G.B.),
   MOP-111197 (to Y.Y.), and MOP-14609 (to B.J.B.). S.M.J. is the recipient
   of a CIHR Postdoctoral fellowship. S.T. is the recipient of a Richard
   and Edith Strauss fellowship. U.B. is the recipient of a Human Frontier
   Science Program Long Term Fellowship. T.G.-P. was supported by an EMBO
   (European Molecular Biology Organization) Fellowship and an Ontario
   Institute for Regenerative Medicine Fellowship.
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NR 71
TC 51
Z9 61
U1 0
U2 17
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD NOV 1
PY 2016
VL 113
IS 44
BP 12360
EP 12367
DI 10.1073/pnas.1615540113
PG 8
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA EA4TR
UT WOS:000386608200033
PM 27791185
OA Green Submitted, Bronze, Green Accepted, Green Published
DA 2025-04-10
ER

PT J
AU Yang, HP
   Huang, JX
   Li, JL
   Wu, J
AF Yang, Huipeng
   Huang, Jiaxing
   Li, Jilian
   Wu, Jie
TI Identification and characterization of adipokinetic hormone and its
   receptor in bumble bee queens, Bombus lantschouensis
SO JOURNAL OF APICULTURAL RESEARCH
LA English
DT Article
DE Adipokinetic hormone; Adipokinetic hormone receptor; Bombus
   lantschouensis; bumble bee queen; alternative splicing; G
   protein-coupled receptor
ID HYMENOPTERA; PROTEINS
AB Adipokinetic hormone (AKH) and its receptor (AKHR) are crucial for energy homeostasis in insects, while their identification and functional characterization are controversial in bee species since the transition of energy storage from the solitary to the eusocial groups. As the primitively eusocial bee species, the bumble bee is an ideal organism for the evolution analysis of AKH and AKHR. In this current study, the identification and characterization of AKH of Bombus lantschouensis (Bomla_AKH) and its receptor (Bomla_AKHR) in queens exhibit that both Bomla_AKH and Bomla_AKHR are highly conserved with their counterparts in Bombus terrestris and Bombus impatiens. Notably, the alternative splicing that takes place with Bomla_akhr results in two putative proteins representing the amino and carboxyl fragments of Bomla_AKHR, respectively. Furthermore, the Bomla_akh expresses in the brain (with corpora cardiaca and corpora allata), while the Bomla_akhr expresses in the fat body and/or ovary depending on the specific development phase. Although the detailed mechanisms remain to be clarified, we can infer that the two putative proteins encoded by the splice mutant might participate in the functional regulation of Bomla_akhr in response to diverse demands in different tissues. The functional characterization and subcellular localization shows that the activation of Bomla_AKHR is AKH dose-dependent. Unfortunately, the response is too weak to do further signaling analysis, which might be due to the poor cytomembrane localization. Meanwhile, the activation mechanisms of Bomla_AKHR might be different from AKHRs of other insect species.
C1 [Yang, Huipeng; Huang, Jiaxing; Li, Jilian; Wu, Jie] Chinese Acad Agr Sci, Inst Apicultural Res, Minist Agr, Key Lab Pollinating Insect Biol, Beijing, Peoples R China.
C3 Chinese Academy of Agricultural Sciences; Institute of Apicultural
   Research, CAAS; Ministry of Agriculture & Rural Affairs
RP Yang, HP; Wu, J (corresponding author), Chinese Acad Agr Sci, Inst Apicultural Res, Minist Agr, Key Lab Pollinating Insect Biol, Beijing, Peoples R China.
EM yanghuipeng@caas.cn; apis@vip.sina.com
FU Beijing Natural Science Foundation [6174051]; Agricultural Science and
   Technology Innovation Program [CAAS-ASTIP-2015-IAR]; China Agriculture
   Research System [CARS-45]
FX This work is supported financially by Beijing Natural Science Foundation
   (6174051), Agricultural Science and Technology Innovation Program
   (CAAS-ASTIP-2015-IAR) and the China Agriculture Research System
   (CARS-45).
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NR 43
TC 0
Z9 0
U1 1
U2 23
PU TAYLOR & FRANCIS LTD
PI ABINGDON
PA 2-4 PARK SQUARE, MILTON PARK, ABINGDON OR14 4RN, OXON, ENGLAND
SN 0021-8839
EI 2078-6913
J9 J APICULT RES
JI J. Apic. Res.
PD MAY 27
PY 2023
VL 62
IS 3
BP 625
EP 633
DI 10.1080/00218839.2021.1898784
EA MAR 2021
PG 9
WC Entomology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Entomology
GA F7WF3
UT WOS:000632726900001
DA 2025-04-10
ER

PT J
AU Thomsen, R
   Daugaard, TF
   Holm, IE
   Nielsen, AL
AF Thomsen, Rune
   Daugaard, Tina F.
   Holm, Ida E.
   Nielsen, Anders Lade
TI Alternative mRNA Splicing from the Glial Fibrillary Acidic Protein
   (GFAP) Gene Generates Isoforms with Distinct Subcellular mRNA
   Localization Patterns in Astrocytes
SO PLOS ONE
LA English
DT Article
ID INTERMEDIATE-FILAMENTS; RADIAL GLIA; VENTRICULAR ZONE; CELLS;
   IDENTIFICATION; BRAIN; DELTA; VISUALIZATION; PROGENITORS
AB The intermediate filament network of astrocytes includes Glial fibrillary acidic protein (Gfap) as a major component. Gfap mRNA is alternatively spliced resulting in generation of different protein isoforms where Gfap alpha is the most predominant isoform. The Gfap delta isoform is expressed in proliferating neurogenic astrocytes of the developing human brain and in the adult human and mouse brain. Here we provide a characterization of mouse Gfap delta mRNA and Gfap delta protein. RT-qPCR analysis showed that Gfap delta mRNA and Gfap alpha mRNA expression is coordinately increased in the post-natal period. Immunohistochemical staining of developing mouse brain samples showed that Gfap delta is expressed in the sub-ventricular zones in accordance with the described localization in the developing and adult human brain. Immunofluorescence analysis verified incorporation of Gfap delta into the Gfap intermediate filament network and overlap in Gfap delta and Gfap alpha subcellular localization. Subcellular mRNA localization studies identified different localization patterns of Gfap delta and Gfap alpha mRNA in mouse primary astrocytes. A larger fraction of Gfap alpha mRNA showed mRNA localization to astrocyte protrusions compared to Gfap delta mRNA. The differential mRNA localization patterns were dependent on the different 3'-exon sequences included in Gfap delta and Gfap alpha mRNA. The presented results show that alternative Gfap mRNA splicing results in isoform-specific mRNA localization patterns with resulting different local mRNA concentration ratios which have potential to participate in subcellular region-specific intermediate filament dynamics during brain development, maintenance and in disease.
C1 [Thomsen, Rune; Daugaard, Tina F.; Nielsen, Anders Lade] Aarhus Univ, Dept Biomed, Aarhus, Denmark.
   [Holm, Ida E.] Reg Hosp Randers, Expt Neuropathol Lab, Dept Pathol, Randers, Denmark.
   [Nielsen, Anders Lade] Aarhus Univ, Ctr Integrat Sequencing, iSEQ, Aarhus, Denmark.
   [Nielsen, Anders Lade] Aarhus Univ, Lundbeck Fdn Initiat Integrat Psychiat Res, iPSYCH, Aarhus, Denmark.
C3 Aarhus University; Aarhus University; Aarhus University; Lundbeck
   Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
RP Nielsen, AL (corresponding author), Aarhus Univ, Dept Biomed, Aarhus, Denmark.
EM aln@hum-gen.au.dk
RI ; Nielsen, Anders Lade/Q-9604-2016
OI Thomsen, Rune/0000-0002-9969-6567; Nielsen, Anders
   Lade/0000-0003-4372-9961; Daugaard, Tina Fuglsang/0000-0003-0320-3076
FU Lundbeck Foundation; Fonden til Laegevidenskabens Fremme; NANONET COST
   [BM1002]; Faculty of Health Sciences, Aarhus University, Denmark
FX This project is funded by grants from the Lundbeck Foundation, Fonden
   til Laegevidenskabens Fremme, and NANONET COST [BM1002]. RT is a
   recipient of a PhD fellowship from the Faculty of Health Sciences,
   Aarhus University, Denmark. The funders had no role in study design,
   data collection and analysis, decision to publish, or preparation of the
   manuscript.
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NR 50
TC 26
Z9 30
U1 0
U2 9
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 26
PY 2013
VL 8
IS 8
AR e72110
DI 10.1371/journal.pone.0072110
PG 12
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA 215RU
UT WOS:000324228800046
PM 23991052
OA gold, Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Lei, JZ
   Liu, XX
   Song, MM
   Zhou, YY
   Fan, J
   Shen, XW
   Xu, XH
   Kapoor, I
   Zhu, GQ
   Wang, JJ
AF Lei, Jianzhen
   Liu, Xiaoxin
   Song, Miaomiao
   Zhou, Yingying
   Fan, Jia
   Shen, Xiaowei
   Xu, Xiaohan
   Kapoor, Isha
   Zhu, Guoqing
   Wang, Juejin
TI Aberrant Exon 8/8a Splicing by Downregulated PTBP (Polypyrimidine
   Tract-Binding Protein) 1 Increases CaV1.2 Dihydropyridine
   Resistance to Attenuate Vasodilation
SO ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
LA English
DT Article
DE alternative splicing; calcium channel blockers; calcium channels;
   L-type; hypertension; polypyrimidine tract-binding protein; vasodilation
ID VASCULAR SMOOTH-MUSCLE; VARIANT SPECIFIC MODULATION; CALCIUM-CHANNEL;
   PULMONARY-ARTERY; MYOGENIC TONE; CA2+ CHANNELS; RAT; HYPERTENSION;
   MICRORNA-124; INACTIVATION
AB Objective: Calcium channel blockers, such as dihydropyridines, are commonly used to inhibit enhanced activity of vascular Ca(V)1.2 channels in hypertension. However, patients who are insensitive to such treatments develop calcium channel blocker-resistant hypertension. The function of Ca(V)1.2 channel is diversified by alternative splicing, and the splicing factor PTBP (polypyrimidine tract-binding protein) 1 influences the utilization of mutually exclusive exon 8/8a of the Ca(V)1.2 channel during neuronal development. Nevertheless, whether and how PTBP1 makes a role in the calcium channel blocker sensitivity of vascular Ca(V)1.2 channels, and calcium channel blocker-induced vasodilation remains unknown. Approach and Results: We detected high expression of PTBP1 and, inversely, low expression of exon 8a in Ca(V)1.2 channels (Ca(V)1.2(E8a)) in rat arteries. In contrast, the opposite expression patterns were observed in brain and heart tissues. In comparison to normotensive rats, the expressions of PTBP1 and Ca(V)1.2(E8a)channels were dysregulated in mesenteric arteries of hypertensive rats. Notably, PTBP1 expression was significantly downregulated, and Ca(V)1.2(E8a)channels were aberrantly increased in dihydropyridine-resistant arteries compared with dihydropyridine-sensitive arteries of rats and human. In rat vascular smooth muscle cells, PTBP1 knockdown resulted in shifting of Ca(V)1.2 exon 8 to 8a. Using patch-clamp recordings, we demonstrated a concomitant reduction of sensitivity of Ca(V)1.2 channels to nifedipine, due to the higher expression of Ca(V)1.2(E8a)isoform. In vascular myography experiments, small interfering RNA-mediated knockdown of PTBP1 attenuated nifedipine-induced vasodilation of rat mesenteric arteries. Conclusions: PTBP1 finely modulates the sensitivities of Ca(V)1.2 channels to dihydropyridine by shifting the utilization of exon 8/8a and resulting in changes of responses in dihydropyridine-induced vasodilation.
C1 [Lei, Jianzhen; Song, Miaomiao; Zhou, Yingying; Fan, Jia; Zhu, Guoqing; Wang, Juejin] Nanjing Med Univ, Dept Physiol, Key Lab Cardiovasc Dis & Mol Intervent, Nanjing, Jiangsu, Peoples R China.
   [Liu, Xiaoxin] Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Shanghai, Peoples R China.
   [Shen, Xiaowei; Xu, Xiaohan] Nanjing Med Univ, Dept Cardiovasc Surg, Affiliated Hosp 1, Nanjing, Jiangsu, Peoples R China.
   [Kapoor, Isha] Cleveland Clin, Dept Canc Biol, Lerner Res Inst, Cleveland, OH 44106 USA.
C3 Nanjing Medical University; Shanghai Jiao Tong University; Nanjing
   Medical University; Cleveland Clinic Foundation
RP Wang, JJ (corresponding author), Nanjing Med Univ, Dept Physiol, 101 Longmian Ave, Nanjing 211166, Peoples R China.
EM juejinwang@njmu.edu.cn
RI Wang, Jun/A-7261-2013
OI Zhu, Guo-Qing/0000-0002-3132-9592; liu, xiao xin/0000-0001-6380-264X; ,
   Juejin/0000-0003-4921-5451
FU National Natural Science Foundation of China [31871149, 31371157];
   Natural Science Foundation of Jiangsu Province [BK20171482]; Qing Lan
   Project of Jiangsu Province - Priority Academic Program Development of
   Jiangsu Higher Education Institutions (PAPD)
FX This work was supported by the National Natural Science Foundation of
   China (31871149 and 31371157), the Natural Science Foundation of Jiangsu
   Province (BK20171482), Qing Lan Project of Jiangsu Province (to J.W.)
   and a project funded by the Priority Academic Program Development of
   Jiangsu Higher Education Institutions (PAPD).
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NR 50
TC 8
Z9 8
U1 10
U2 25
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 1079-5642
EI 1524-4636
J9 ARTERIOSCL THROM VAS
JI Arterioscler. Thromb. Vasc. Biol.
PD OCT
PY 2020
VL 40
IS 10
BP 2440
EP 2453
DI 10.1161/ATVBAHA.120.315010
PG 14
WC Hematology; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology; Cardiovascular System & Cardiology
GA NY4ZL
UT WOS:000576399500013
PM 32787518
DA 2025-04-10
ER

PT J
AU Kim, MJ
   Yu, CY
   Theusch, E
   Naidoo, D
   Stevens, K
   Kuang, YL
   Schuetz, E
   Chaudhry, AS
   Medina, MW
AF Kim, Mee J.
   Yu, Chi-Yi
   Theusch, Elizabeth
   Naidoo, Devesh
   Stevens, Kristen
   Kuang, Yu-Lin
   Schuetz, Erin
   Chaudhry, Amarjit S.
   Medina, Marisa W.
TI SUGP1 is a novel regulator of cholesterol metabolism
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID FATTY LIVER-DISEASE; DENSITY-LIPOPROTEIN CHOLESTEROL;
   CORONARY-HEART-DISEASE; LIPID-LEVELS; ASSOCIATION SIGNALS; HUMAN
   SPLICEOSOME; WIDE ASSOCIATION; MESSENGER-RNA; LOCI; POPULATION
AB A large haplotype on chromosome 19p13.11 tagged by rs10401969 in intron 8 of SURP and G patch domain containing 1 (SUGP1) is associated with coronary artery disease (CAD), plasma LDL cholesterol levels, and other energy metabolism phenotypes. Recent studies have suggested that TM6SF2 is the causal gene within the locus, but we postulated that this locus could harbor additional CAD risk genes, including the putative splicing factor SUGP1. Indeed, we found that rs10401969 regulates SUGP1 exon 8 skipping, causing non-sense-mediated mRNA decay. Hepatic Sugp1 overexpression in CD1 male mice increased plasma cholesterol levels 20-50%. In human hepatoma cell lines, SUGP1 knockdown stimulated 3-hydroxy-3-methylglutaryl- CoA reductase (HMGCR) alternative splicing and decreased HMGCR transcript stability, thus reducing cholesterol synthesis and increasing LDL uptake. Our results strongly support a role for SUGP1 as a novel regulator of cholesterol metabolism and suggest that it contributes to the relationship between rs10401969 and plasma cholesterol.
C1 [Kim, Mee J.; Yu, Chi-Yi; Theusch, Elizabeth; Naidoo, Devesh; Stevens, Kristen; Kuang, Yu-Lin; Medina, Marisa W.] Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA.
   [Schuetz, Erin; Chaudhry, Amarjit S.] St Jude Childrens Res Hosp, Dept Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA.
C3 University of California System; University of California San Francisco;
   UCSF Medical Center; UCSF Benioff Children's Hospital Oakland;
   Children's Hospital Oakland Research Institute; St Jude Children's
   Research Hospital; University of Tennessee System; University of
   Tennessee Health Science Center
RP Medina, MW (corresponding author), Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA.
EM mwmedina@chori.org
OI Theusch, Elizabeth/0000-0002-5678-759X
FU National Institutes of Health [R01 HL104133, U19 HL069757, P50
   GM115318]; American Heart Association [12POST10430005]; NIH [R01
   HL104133]; American Heart Association (AHA) [12POST10430005] Funding
   Source: American Heart Association (AHA)
FX This work was supported by the National Institutes of Health [R01
   HL104133], [U19 HL069757], [P50 GM115318], and the American Heart
   Association [12POST10430005]. Funding to pay the Open Access publication
   charges for this article was provided by NIH R01 HL104133.
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NR 50
TC 21
Z9 24
U1 0
U2 6
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD JUL 15
PY 2016
VL 25
IS 14
BP 3106
EP 3116
DI 10.1093/hmg/ddw151
PG 11
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA EJ2UF
UT WOS:000393066300017
PM 27206982
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Velling, T
   Collo, G
   Sorokin, L
   Durbeej, M
   Zhang, HY
   Gullberg, D
AF Velling, T
   Collo, G
   Sorokin, L
   Durbeej, M
   Zhang, HY
   Gullberg, D
TI Distinct alpha(7A)beta(1) and alpha(7B)beta(1) integrin expression
   patterns during mouse development: alpha(7A) is restricted to skeletal
   muscle but alpha(7B) is expressed in striated muscle, vasculature, and
   nervous system
SO DEVELOPMENTAL DYNAMICS
LA English
DT Article
DE alpha(7)beta(1) integrin; splice variants; vasculature; nervous system;
   myogenesis; laminin isoforms; mouse development; heart development
ID CYTOPLASMIC DOMAINS; LAMININ; RECEPTOR; CHAIN; CELLS; DYSTROGLYCAN;
   MYOGENESIS; MIGRATION; ADHESION; CLONING
AB The laminin binding alpha(7) beta(1) integrin has been described as a major integrin in skeletal muscle. The RNA coding for the cytoplasmic domain of alpha(7) integrin undergoes alternative splicing to generate two major forms, denoted alpha(7A) and alpha(7B) In the current paper, we have examined the developmental expression patterns of the alpha(7A) and alpha(7B) splice variants in the mouse, The alpha(7) integrin expression is compared to that of the nonintegrin laminin receptor dystroglycan and to that of laminin-alpha 1 and laminin-alpha 2 chains, alpha(7A) integrin was found by in situ hybridization to be specific to skeletal muscle, Antibodies specific for alpha(7B) integrin and in situ hybridization revealed the presence of alpha(7) mRNA and alpha(7B) protein in the E10 myotome and later in primary and secondary myotubes, In the heart, alpha(7B) integrin was not detectable in the endocardium or myocardium during embryonic and fetal heart development, Northern blot analysis and immunohistochemistry revealed a postnatal induction of alpha(7B) in the myocardium, In addition to striated muscle, alpha(7B) integrin was localized to previously unreported nonmuscle locations such as a subset of vascular endothelia and restricted sites in the nervous system. Comparison of the alpha(7) integrin expression pattern with that of different laminin isoforms and dystroglycan revealed a coordinated temporal expression of dystroglycan, alpha(7) integrin, and laminin-alpha 2, but not laminin-alpha 1, in the forming skeletal muscle, We conclude that the alpha(7A) and alpha(7B) integrin variants are expressed in a developmentally regulated, tissue-specific pattern suggesting different functions for the two splice forms. (C) 1996 Wiley-Liss, Inc.
C1 UPPSALA UNIV,DEPT ANIM PHYSIOL,BMC,S-75124 UPPSALA,SWEDEN.
   GLAXO INST MOL BIOL SA,CH-1228 PLANS LES OUATES,GENEVA,SWITZERLAND.
   UNIV ERLANGEN NURNBERG,INST EXPT MED,D-91054 ERLANGEN,GERMANY.
C3 Uppsala University; GlaxoSmithKline; GlaxoSmithKline Switzerland;
   University of Erlangen Nuremberg
RI Velling, Teet/G-6129-2016; Sorokin, Lev/C-2662-2014; Gullberg,
   Donald/H-2495-2016
OI COLLO, Ginetta/0000-0003-1888-5049; Sorokin, Lydia/0000-0001-7704-7921;
   Durbeej Hjalt, Madeleine/0000-0002-5491-2457
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NR 55
TC 65
Z9 74
U1 0
U2 2
PU WILEY-LISS
PI NEW YORK
PA DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012
SN 1058-8388
J9 DEV DYNAM
JI Dev. Dyn.
PD DEC
PY 1996
VL 207
IS 4
BP 355
EP 371
DI 10.1002/(SICI)1097-0177(199612)207:4<355::AID-AJA1>3.0.CO;2-G
PG 17
WC Anatomy & Morphology; Developmental Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Anatomy & Morphology; Developmental Biology
GA VV653
UT WOS:A1996VV65300001
PM 8950511
OA Bronze
DA 2025-04-10
ER

PT J
AU Newey, SE
   Benson, MA
   Ponting, CP
   Davies, KE
   Blake, DJ
AF Newey, SE
   Benson, MA
   Ponting, CP
   Davies, KE
   Blake, DJ
TI Alternative splicing of dystrobrevin regulates the stoichiometry of
   syntrophin binding to the dystrophin protein complex
SO CURRENT BIOLOGY
LA English
DT Article
ID MUSCULAR-DYSTROPHIES; ALPHA-DYSTROBREVIN; BETA-DYSTROBREVIN;
   SKELETAL-MUSCLE; FAMILY; ALPHA-1-SYNTROPHIN; BETA-2-SYNTROPHIN;
   IDENTIFICATION; TERMINUS; DOMAINS
AB Dystrophin coordinates the assembly of a complex of structural and signalling proteins that is required for normal muscle function, A key component of the dystrophin-associated protein complex (DPC) is alpha -dystrobrevin, a dystrophin-related and -associated protein whose absence results in muscular dystrophy and neuromuscular junction defects [1,2]. The current model of the DPC predicts that dystrophin and dystrobrevin each bind a single syntrophin molecule [3], The syntrophins are PDZ-domain-containing proteins that facilitate the recruitment of signalling proteins such as nNOS (neuronal nitric oxide synthase) to the DPC [4], Here we show, using yeast two-hybrid analysis and biochemical binding studies, that alpha -dystrobrevin in fact contains two independent syntrophin-binding sites in tandem. The previously undescribed binding site is situated within an alternatively spliced exon of alpha -dystrobrevin, termed the variable region-3 (vr3) sequence, which is specifically expressed in skeletal and cardiac muscle [5,6]. Analysis of the syntrophin-binding region of dystrobrevin reveals a tandem pair of predicted a helices with significant sequence similarity. These a helices, each termed a syntrophin-binding motif, are also highly conserved in dystrophin and utrophin, Together these data show that there are four potential syntrophin-binding sites per dystrophin complex in skeletal muscle: two on dystrobrevin and two on dystrophin or utrophin, Furthermore, alternative splicing of dystrobrevin provides a mechanism for regulating the stoichiometry of syntrophin association with the DPc, This is likely to have important consequences for the recruitment of specific signalling molecules to the DPc and ultimately for its function.
C1 Univ Oxford, Dept Human Anat & Genet, Oxford OX1 3QX, England.
   MRC, Funct Genet Unit, Dept Human Anat & Genet, Oxford OX1 3QX, England.
C3 University of Oxford
RP Davies, KE (corresponding author), Univ Oxford, Dept Human Anat & Genet, S Parks Rd, Oxford OX1 3QX, England.
RI Ponting, Chris/AAV-2621-2021
OI Newey, Sarah/0000-0001-8941-4039; Benson, Matthew/0000-0003-4459-0439;
   Ponting, Chris/0000-0003-0202-7816
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NR 28
TC 77
Z9 89
U1 0
U2 2
PU CURRENT BIOLOGY LTD
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0960-9822
J9 CURR BIOL
JI Curr. Biol.
PD OCT 19
PY 2000
VL 10
IS 20
BP 1295
EP 1298
DI 10.1016/S0960-9822(00)00760-0
PG 4
WC Biochemistry & Molecular Biology; Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
   Topics; Cell Biology
GA 366YR
UT WOS:000090034300022
PM 11069112
OA Bronze
DA 2025-04-10
ER

PT J
AU Schaible, EV
   Windschügl, J
   Bobkiewicz, W
   Kaburov, Y
   Dangel, L
   Krämer, T
   Huang, CS
   Sebastiani, A
   Luh, C
   Werner, C
   Engelhard, K
   Thal, SC
   Schäfer, MKE
AF Schaible, Eva-Verena
   Windschuegl, Julia
   Bobkiewicz, Wiesia
   Kaburov, Yordan
   Dangel, Larissa
   Kraemer, Tobias
   Huang, Changsheng
   Sebastiani, Anne
   Luh, Clara
   Werner, Christian
   Engelhard, Kristin
   Thal, Serge C.
   Schaefer, Michael K. E.
TI 2-Methoxyestradiol confers neuroprotection and inhibits a maladaptive
   HIF-1 response after traumatic brain injury in mice
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Article
DE 2-methoxyestradiol; alternative splicing; cerebral ischemia; HIF-1;
   neuroprotection; traumatic brain injury
ID HYPOXIA-INDUCIBLE FACTOR-1-ALPHA; PLASMINOGEN-ACTIVATOR INHIBITOR-1;
   EXPERIMENTAL SUBARACHNOID HEMORRHAGE; PROLYL HYDROXYLASE INHIBITION;
   TUMOR-NECROSIS-FACTOR; FACTOR-I; HIF-1-ALPHA PROTEIN; GENE-EXPRESSION;
   FACTOR 1-ALPHA; UP-REGULATION
AB HIF-1 is pivotal for cellular homeostasis in response to cerebral ischemia. Pharmacological inhibition of HIF-1 may reduce secondary brain damage by targeting post-translational mechanisms associated with its proteasomal degradation and nuclear translocation. This study examined the neuroprotective effects of 2-methoxyestradiol (2ME2), the involved HIF-1-dependent response, and alternative splicing in exon 14 of HIF-1 (HIF-1Ex14) after traumatic brain injury (TBI) in mice. Intraperitoneal 2ME2 administration 30min after TBI caused a dose-dependent reduction in secondary brain damage after 24h. 2ME2 was physiologically tolerated, showed no effects on immune cell brain migration, and mitigated trauma-induced brain expression of neuropathologically relevant HIF-1 target genes encoding for Plasminogen activator inhibitor 1 and tumor necrosis factor alpha. Moreover, TBI-induced expression of pro-apoptotic BNIP3 was attenuated by 2ME2 treatment. Alternatively, spliced HIF-1Ex14 was substantially up-regulated from 6 to 48h after TBI. In vitro, nuclear location and gene transcription activity of HIF-1Ex14 were impaired compared to full-length HIF-1, but no effects on nuclear translocation of the transcriptional complex partner HIF-1 were observed. This study demonstrates that 2ME2 confers neuroprotection after TBI. While the role of alternatively spliced HIF-1Ex14 remains elusive, the in vivo data provide evidence that inhibition of a maladaptive HIF-1-dependent response contributes to the neuroprotective effects of 2ME2. We examined neuroprotective effects of 2-methoxyestradiol (2ME2) and the hypoxia-inducible factor 1- (HIF-1) response following traumatic brain injury in mice. Early 2ME2 administration reduced the secondary brain damage and neuronal HIF-1 probably involving ubiquitin proteasome system-mediated degradation. The up-regulation of neuropathological HIF-1 target genes and pro-apoptotic BNIP3 protein was attenuated. We propose that the inhibition of a maladaptive HIF-1 response may contribute to 2ME2-mediated neuroprotection.
C1 [Schaible, Eva-Verena; Windschuegl, Julia; Bobkiewicz, Wiesia; Kaburov, Yordan; Dangel, Larissa; Kraemer, Tobias; Huang, Changsheng; Sebastiani, Anne; Luh, Clara; Werner, Christian; Engelhard, Kristin; Thal, Serge C.; Schaefer, Michael K. E.] Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Anesthesiol, D-55131 Mainz, Germany.
   [Dangel, Larissa; Werner, Christian; Engelhard, Kristin; Schaefer, Michael K. E.] Johannes Gutenberg Univ Mainz, Focus Program Translat Neurosci FTN, D-55131 Mainz, Germany.
C3 Johannes Gutenberg University of Mainz; Johannes Gutenberg University of
   Mainz
RP Schäfer, MKE (corresponding author), Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Anesthesiol, Langenbeckstr 1, D-55131 Mainz, Germany.
EM michael.schaefer@unimedizin-mainz.de;
   michael.schaefer@unimedizin-mainz.de
RI Changsheng, Huang/M-6033-2018; Werner, Christian/JPV-1360-2023; Thal,
   Serge/D-6593-2011
OI Huang, Changsheng/0000-0003-0535-1865; Thal, Serge/0000-0002-1222-8729;
   Schafer, Michael K.E./0000-0001-6055-6244; Kramer,
   Tobias/0000-0001-6900-3486
FU Focus program Translational Neuroscience, Johannes Gutenberg-University
   Mainz, Germany
FX We thank Dr. Jacques Pouyssegur (Nice, France) for providing HA-tagged
   HIF-1 alpha pcDNA3 expression constructs and M. C. Simon (Philadelphia,
   United States) for HRE luciferase reporter construct. We are grateful to
   Dana Pieter and Frieda Kornes for excellent technical assistance. L. D.
   was supported by a PhD fellowship of the Focus program Translational
   Neuroscience, Johannes Gutenberg-University Mainz, Germany. Data
   presented in this manuscript are parts of the doctor theses of J.W. and
   Y.K. and of the professorial dissertation (Habilitation) of E. V. S.
   presented to the Medical Faculty of the Johannes Gutenberg-University
   Mainz, Germany.
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NR 88
TC 60
Z9 75
U1 0
U2 15
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
EI 1471-4159
J9 J NEUROCHEM
JI J. Neurochem.
PD JUN
PY 2014
VL 129
IS 6
BP 940
EP 954
DI 10.1111/jnc.12708
PG 15
WC Biochemistry & Molecular Biology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AJ5WI
UT WOS:000337760500005
PM 24606183
DA 2025-04-10
ER

PT J
AU Lee, JH
   Gao, C
   Peng, GD
   Greer, C
   Ren, SX
   Wang, YB
   Xiao, XS
AF Lee, Jae-Hyung
   Gao, Chen
   Peng, Guangdun
   Greer, Christopher
   Ren, Shuxun
   Wang, Yibin
   Xiao, Xinshu
TI Analysis of Transcriptome Complexity Through RNA Sequencing in Normal
   and Failing Murine Hearts
SO CIRCULATION RESEARCH
LA English
DT Article
DE RNA-Seq; transcriptome profiling; hypertrophy; heart failure
ID SEQ; QUANTIFICATION; EXPRESSION; ALIGNMENT; REVEALS
AB Rationale: Accurate and comprehensive de novo transcriptome profiling in heart is a central issue to better understand cardiac physiology and diseases. Although significant progress has been made in genome-wide profiling for quantitative changes in cardiac gene expression, current knowledge offers limited insights to the total complexity in cardiac transcriptome at individual exon level.
   Objective: To develop more robust bioinformatic approaches to analyze high-throughput RNA sequencing (RNA-Seq) data, with the focus on the investigation of transcriptome complexity at individual exon and transcript levels.
   Methods and Results: In addition to overall gene expression analysis, the methods developed in this study were used to analyze RNA-Seq data with respect to individual transcript isoforms, novel spliced exons, novel alternative terminal exons, novel transcript clusters (ie, novel genes), and long noncoding RNA genes. We applied these approaches to RNA-Seq data obtained from mouse hearts after pressure-overload induced by transaortic constriction. Based on experimental validations, analyses of the features of the identified exons/transcripts, and expression analyses including previously published RNA-Seq data, we demonstrate that the methods are highly effective in detecting and quantifying individual exons and transcripts. Novel insights inferred from the examined aspects of the cardiac transcriptome open ways to further experimental investigations.
   Conclusions: Our work provided a comprehensive set of methods to analyze mouse cardiac transcriptome complexity at individual exon and transcript levels. Applications of the methods may infer important new insights to gene regulation in normal and disease hearts in terms of exon utilization and potential involvement of novel components of cardiac transcriptome. (Circ Res. 2011;109:1332-1341.)
C1 [Gao, Chen; Wang, Yibin; Xiao, Xinshu] Univ Calif Los Angeles, David Geffen Sch Med, Inst Mol Biol, Los Angeles, CA 90095 USA.
   [Lee, Jae-Hyung; Gao, Chen; Greer, Christopher; Xiao, Xinshu] Univ Calif Los Angeles, David Geffen Sch Med, Dept Integrat Biol & Physiol, Los Angeles, CA 90095 USA.
   [Ren, Shuxun; Wang, Yibin] Univ Calif Los Angeles, David Geffen Sch Med, Dept Anesthesiol, Los Angeles, CA 90095 USA.
   [Ren, Shuxun; Wang, Yibin] Univ Calif Los Angeles, David Geffen Sch Med, Dept Physiol, Los Angeles, CA 90095 USA.
   [Ren, Shuxun; Wang, Yibin] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Los Angeles, CA 90095 USA.
   [Gao, Chen; Ren, Shuxun; Wang, Yibin] Univ Calif Los Angeles, David Geffen Sch Med, Cardiovasc Res Labs, Los Angeles, CA 90095 USA.
C3 University of California System; University of California Los Angeles;
   University of California Los Angeles Medical Center; David Geffen School
   of Medicine at UCLA; University of California System; University of
   California Los Angeles; University of California Los Angeles Medical
   Center; David Geffen School of Medicine at UCLA; University of
   California System; University of California Los Angeles; University of
   California Los Angeles Medical Center; David Geffen School of Medicine
   at UCLA; University of California System; University of California Los
   Angeles; University of California Los Angeles Medical Center; David
   Geffen School of Medicine at UCLA; University of California System;
   University of California Los Angeles; University of California Los
   Angeles Medical Center; David Geffen School of Medicine at UCLA;
   University of California System; University of California Los Angeles;
   University of California Los Angeles Medical Center; David Geffen School
   of Medicine at UCLA
RP Xiao, XS (corresponding author), Univ Calif Los Angeles, David Geffen Sch Med, Inst Mol Biol, 611 Charles E Young Dr,Boyer Hall,Room 660, Los Angeles, CA 90095 USA.
EM gxxiao@ucla.edu
RI Lee, Jae-Hyung/E-6827-2011; Yimei, Wang/AAE-4083-2019; Gao,
   Chen/KZU-1046-2024; Peng, Guangdun/AAH-9044-2019; Wang,
   Yibin/AES-4559-2022
OI Xiao, Xinshu/0000-0002-9362-8029; Lee, Jae-Hyung/0000-0002-5085-6988;
   Peng, Guangdun/0000-0002-8586-0637; Wang, Yibin/0000-0003-0852-0767
FU NIH [R21DA027039, HL088640, HL070079, HL103205, HL098954]; Alfred P.
   Sloan Foundation; March of Dimes Foundation [5-FY10-486]; American heart
   Association
FX This work was supported in part by NIH grant R21DA027039, an Alfred P.
   Sloan Foundation Research Fellowship, and research grant No. 5-FY10-486
   from the March of Dimes Foundation to X.X., an American heart
   Association Postdoctoral Fellowship to J.H.L., and NIH grants HL088640,
   HL070079. HL103205, and HL098954 to Y.W.
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NR 26
TC 169
Z9 194
U1 1
U2 30
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD DEC 9
PY 2011
VL 109
IS 12
BP 1332
EP 1341
DI 10.1161/CIRCRESAHA.111.249433
PG 10
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 863MD
UT WOS:000298167400030
PM 22034492
OA Green Accepted, Bronze
DA 2025-04-10
ER

PT J
AU Corre, M
   Lebreton, A
AF Corre, Morgane
   Lebreton, Alice
TI Regulation of cold-inducible RNA-binding protein (CIRBP) in response to
   cellular stresses
SO BIOCHIMIE
LA English
DT Article
DE CIRBP; Alternative splicing; Stress; Post-translational modi fication;
   Subcellular localization; Translation
ID GENE-EXPRESSION; TRANSCRIPTS; METHYLATION; RICH; ISCHEMIA; REGION; CIRP2
AB Cold-inducible RNA-Binding Protein (CIRBP) is a general stress-response factor in vertebrates harboring two domains: an RNA-recognition motif and a regulatory domain rich in RG/RGG motifs. CIRBP has been described to bind mRNAs upon various stress conditions (cold, infections, UV, hypoxia ...) and regulate their stability and translation. The proteins encoded by its targets are involved in key stress-responsive cellular pathways including apoptosis, inflammation, cell proliferation or translation, thus allowing their coordination. Due to its role in regulating central cellular functions, the expression of CIRBP is tightly controlled. We review here current understanding of the multiple mechanistic layers affecting CIRBP expression and function. Beyond transcriptional regulation by cold-responsive elements and the use of alternative promoters and transcription start sites, CIRBP undergoes various alternative splicing (AS) events which, depending on conditions, modulate the stability of CIRBP transcripts and/or impact the sequence of the encoded polypeptide. Typically, whilst CIRBP expression is induced in the context of hypothermia or viral infection, AS events preferentially address alternative isoforms towards mRNA degradation pathways in response to heat stress or to bacterial-secreted pore forming toxins. Posttranslational modifications of CIRBP, mostly in its RGG domain, also condition CIRBP subcellular localization and access to its targets, thereby promoting or inhibiting their expression. For instance, phosphorylation and methylation events gate CIRBP nuclear to cytoplasmic translocation and control its recruitment to stress granules. Considering the therapeutic potential of modulating the expression and function of this central player in stress responses, a fine understanding of CIRBP regulation mechanisms deserves further attention. (c) 2023 Elsevier B.V. and Societe Francaise de Biochimie et Biologie Moleculaire (SFBBM). All rights reserved.
C1 [Corre, Morgane; Lebreton, Alice] Univ PSL, Ecole Normale Super, CNRS, INSERM,Inst Biol ENS IBENS, F-75005 Paris, France.
   [Lebreton, Alice] INRAE, Micalis Inst, F-78350 Jouy En Josas, France.
C3 Institut National de la Sante et de la Recherche Medicale (Inserm);
   Centre National de la Recherche Scientifique (CNRS); Universite PSL;
   Ecole Normale Superieure (ENS); INRAE; Universite Paris Saclay;
   AgroParisTech
RP Lebreton, A (corresponding author), Univ PSL, Ecole Normale Super, CNRS, INSERM,Inst Biol ENS IBENS, F-75005 Paris, France.
EM alice.lebreton@ens.psl.eu
RI Lebreton, Alice/M-8764-2015
OI Lebreton, Alice/0000-0002-6643-902X; CORRE, Morgane/0000-0003-2581-0301
FU MESRI (Ministere de l'enseignement superieur, de la recherche et de
   l'innovation); LabEx MemoLife [ANR-10-LABX-54]
FX MC received a doctoral fellowship from the MESRI (Ministere de
   l'enseignement superieur, de la recherche et de l'innovation) and from
   LabEx MemoLife (ANR-10-LABX-54) under the program "Investissements
   d'Avenir" managed by the French national research agency.
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Z9 12
U1 1
U2 11
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI ISSY-LES-MOULINEAUX
PA 65 RUE CAMILLE DESMOULINS, CS50083, 92442 ISSY-LES-MOULINEAUX, FRANCE
SN 0300-9084
EI 1638-6183
J9 BIOCHIMIE
JI Biochimie
PD FEB
PY 2024
VL 217
BP 3
EP 9
DI 10.1016/j.biochi.2023.04.003
EA JAN 2024
PG 7
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA IP4C9
UT WOS:001167510400001
PM 37037339
OA Bronze
DA 2025-04-10
ER

PT J
AU Fuller, SJ
   Edmunds, NS
   McGuffin, LJ
   Hardyman, MA
   Cull, JJ
   Alharbi, HO
   Meijles, DN
   Sugden, PH
   Clerk, A
AF Fuller, Stephen J.
   Edmunds, Nick S.
   McGuffin, Liam J.
   Hardyman, Michelle A.
   Cull, Joshua J.
   Alharbi, Hajed O.
   Meijles, Daniel N.
   Sugden, Peter H.
   Clerk, Angela
TI MAP4K4 expression in cardiomyocytes: multiple isoforms, multiple
   phosphorylations and interactions with striatins
SO BIOCHEMICAL JOURNAL
LA English
DT Article
ID STRIPAK COMPLEXES; PROTEIN-KINASE; ACTIVATION; PHOSPHATASE; SUPPRESSES;
   MINK1; HGK
AB The Ser/Thr kinase MAP4K4, like other GCKIV kinases, has N-terminal kinase and C-terminal citron homology (CNH) domains. MAP4K4 can activate c-Jun N-terminal kinases (JNKs), and studies in the heart suggest it links oxidative stress to JNKs and heart failure. In other systems, MAP4K4 is regulated in striatin-interacting phosphatase and kinase (STRIPAK) complexes, in which one of three striatins tethers PP2A adjacent to a kinase to keep it dephosphorylated and inactive. Our aim was to understand how MAP4K4 is regulated in cardiomyocytes. The rat MAP4K4 gene was not properly defined. We identified the first coding exon of the rat gene using 5'-RACE, we cloned the full-length sequence and confirmed alternative-splicing of MAP4K4 in rat cardiomyocytes. We identified an additional alpha-helix C-terminal to the kinase domain important for kinase activity. In further studies, FLAG-MAP4K4 was expressed in HEK293 cells or cardiomyocytes. The Ser/Thr protein phosphatase inhibitor calyculin A (CalA) induced MAP4K4 hyperphosphorylation, with phosphorylation of the activation loop and extensive phosphorylation of the linker between the kinase and CNH domains. This required kinase activity. MAP4K4 associated with myosin in untreated cardiomyocytes, and this was lost with CalA-treatment. FLAG-MAP4K4 associated with all three striatins in cardiomyocytes, indicative of regulation within STRIPAK complexes and consistent with activation by CalA. Computational analysis suggested the interaction was direct and mediated via coiled-coil domains. Surprisingly, FLAG-MAP4K4 inhibited JNK activation by H2O2 in cardiomyocytes and increased myofibrillar organisation. Our data identify MAP4K4 as a STRIPAK-regulated kinase in cardiomyocytes, and suggest it regulates the cytoskeleton rather than activates JNKs.
C1 [Fuller, Stephen J.; Edmunds, Nick S.; McGuffin, Liam J.; Hardyman, Michelle A.; Cull, Joshua J.; Alharbi, Hajed O.; Sugden, Peter H.; Clerk, Angela] Univ Reading, Sch Biol Sci, Whiteknights Campus, Reading RG6 2AS, Berks, England.
   [Meijles, Daniel N.] St Georges Univ London, Mol & Clin Sci Inst, London SW17 0RE, England.
C3 University of Reading; City St Georges, University of London; St Georges
   University London
RP Clerk, A (corresponding author), Univ Reading, Sch Biol Sci, Whiteknights Campus, Reading RG6 2AS, Berks, England.
EM a.clerk@reading.ac.uk
RI McGuffin, Liam/A-5598-2008; Alharbi, Hajed/JLL-9152-2023; Meijles,
   Daniel/J-6457-2014
OI Alharbi, Hajed/0000-0003-4566-2932; Clerk, Angela/0000-0002-5658-0708
FU British Heart Foundation [PG/13/71/30460, PG/15/41/31560,
   PG/15/24/31367, FS/18/33/33621]; Fondation LeDucq [CV05-02];
   Biotechnology and Biological Sciences Research Council [BB/T018496/1];
   Qassim University, Saudi Arabia; BBSRC [BB/T018496/1] Funding Source:
   UKRI
FX This work was funded by the British Heart Foundation (Grant Nos.:
   PG/13/71/30460, PG/15/41/31560, PG/15/24/31367 and FS/18/33/33621),
   Fondation LeDucq (Grant No.: CV05-02), the Biotechnology and Biological
   Sciences Research Council (grant no.: BB/T018496/1) and and Qassim
   University, Saudi Arabia (to H.O.A.).
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NR 51
TC 8
Z9 8
U1 0
U2 1
PU PORTLAND PRESS LTD
PI LONDON
PA 1ST FLR, 10 QUEEN STREET PLACE, LONDON, ENGLAND
SN 0264-6021
EI 1470-8728
J9 BIOCHEM J
JI Biochem. J.
PD JUN
PY 2021
VL 478
IS 11
BP 2121
EP 2143
DI 10.1042/BCJ20210003
PG 23
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA UX0XP
UT WOS:000700572300002
PM 34032269
OA Green Accepted, hybrid, Green Published
DA 2025-04-10
ER

PT J
AU Salmón, M
   Paniagua, G
   Lechuga, CG
   Fernández-García, F
   Zarzuela, E
   Alvarez-Díaz, R
   Musteanu, M
   Guerra, C
   Caleiras, E
   Muñoz, J
   Ortega, S
   Drosten, M
   Barbacid, M
AF Salmon, Marina
   Paniagua, Guillem
   Lechuga, Carmen G.
   Fernandez-Garcia, Fernando
   Zarzuela, Eduardo
   Alvarez-Diaz, Ruth
   Musteanu, Monica
   Guerra, Carmen
   Caleiras, Eduardo
   Munoz, Javier
   Ortega, Sagrario
   Drosten, Matthias
   Barbacid, Mariano
TI KRAS4A induces metastatic lung adenocarcinomas in vivo in the absence of
   the KRAS4B isoform
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
   AMERICA
LA English
DT Article
DE KRAS isoforms; alternative splicing; gene editing; lung tumors;
   hypertrabeculation
ID K-RAS 4A; SPLICE VARIANT; H-RAS; MOUSE; SPECIFICITY; ONCOGENES; CANCER;
   4B
AB In mammals, the KRAS locus encodes two protein isoforms, KRAS4A and KRAS4B, which differ only in their C terminus via alternative splicing of distinct fourth exons. Previous studies have shown that whereas KRAS expression is essential for mouse development, the KRAS4A isoform is expendable. Here, we have generated a mouse strain that carries a terminator codon in exon 4B that leads to the expression of an unstable KRAS4B(154) truncated polypeptide, hence resulting in a bona fide Kras4B-null allele. In contrast, this terminator codon leaves expression of the KRAS4A isoform unaffected. Mice selectively lacking KRAS4B expression developed to term but died perinatally because of hypertrabeculation of the ventricular wall, a defect reminiscent of that observed in embryos lacking the Kras locus. Mouse embryonic fibroblasts (MEFs) obtained from Kras4B(-/-) embryos proliferated less than did wild-type MEFs, because of limited expression of KRAS4A, a defect that can be compensated for by ectopic expression of this isoform. Introduction of the same terminator codon into a Kras(FSFG12V) allele allowed expression of an endogenous KRAS4A(G12V) oncogenic isoform in the absence of KRAS4B. Exposure of Kras(+/FSF4AG12V4B-) mice to Adeno-FLPo particles induced lung tumors with complete penetrance, albeitwith increased latencies as compared with control Kras(+/FSFG12V) animals. Moreover, a significant percentage of these mice developed proximal metastasis, a feature seldom observed in mice expressing both mutant isoforms. These results illustrate that expression of the KRAS4A(G12V) mutant isoform is sufficient to induce lung tumors, thus suggesting that selective targeting of the KRAS4B(G12V) oncoprotein may not have significant therapeutic consequences.
C1 [Salmon, Marina; Paniagua, Guillem; Lechuga, Carmen G.; Fernandez-Garcia, Fernando; Alvarez-Diaz, Ruth; Musteanu, Monica; Guerra, Carmen; Drosten, Matthias; Barbacid, Mariano] Ctr Nacl Invest Oncol, Mol Oncol Programme, Expt Oncol, Madrid 28029, Spain.
   [Zarzuela, Eduardo; Munoz, Javier] Ctr Nacl Invest Oncol, Prote Unit, Biotechnol Programme, Madrid 28029, Spain.
   [Zarzuela, Eduardo; Munoz, Javier] Inst Salud Carlos III, PrateoRed, Madrid 28049, Spain.
   [Musteanu, Monica] Univ Complutense Madrid, Fac Pharm, Dept Biochem & Mol Biol, Madrid 28040, Spain.
   [Caleiras, Eduardo] Ctr Nacl Invest Oncol, Histopathol Unit, Biotechnol Programme, Madrid 28029, Spain.
   [Ortega, Sagrario] Ctr Nacl Invest Oncol, Mouse Genome Editing Unit, Biotechnol Programme, Madrid 28029, Spain.
C3 Instituto de Salud Carlos III; Complutense University of Madrid
RP Drosten, M; Barbacid, M (corresponding author), Ctr Nacl Invest Oncol, Mol Oncol Programme, Expt Oncol, Madrid 28029, Spain.
EM mdrosten@cnio.es; mbarbacid@cnio.es
RI Guerra, Carmen/K-5852-2014; Munoz, Javier/I-4891-2012; Paniagua Soriano,
   Guillem/K-6880-2016; Musteanu, Monica/R-5252-2018; Fernandez-Garcia,
   Fernando/JFA-9718-2023
OI Drosten, Matthias/0000-0002-3205-456X; Zarzuela,
   Eduardo/0000-0002-0187-4012; Alvarez Diaz, Ruth/0000-0003-0141-4881;
   Munoz, Javier/0000-0003-3288-3496; Paniagua Soriano,
   Guillem/0000-0003-2292-5330; Caleiras, Eduardo/0000-0001-8768-3630;
   Musteanu, Monica/0000-0002-1753-3765; Guerra,
   Carmen/0000-0002-3891-046X; Salmon, Marina/0000-0003-2459-2840;
   Fernandez-Garcia, Fernando/0000-0001-6011-7452
FU European Research Council [ERC-2015-AdG/695566]; Spanish Ministry of
   Science, Innovation and Universities [RTC-2017-6576-1,
   RTI2018-094664-B-I00, BES-2016-079096]; Autonomous Community of Madrid
   [B2017/BMD-3884 iLUNG-CM]; CRIS Cancer Foundation; AXA Research Fund;
   Government of the Community of Madrid; formacion de profesorado
   universitario (FPU) fellowship from the Spanish Ministry of Science,
   Innovation and Universities
FX We thank Marta San Roman, Raquel Villar, and Nuria Cabrera for excellent
   technical assistance; Mayte Lamparero and Isabel Blanco (Animal
   Facility) for mouse work; the Histopathology Unit for processing of
   mouse tissues; Lola Martinez (Flow Cytometry Unit) for her help with
   flow cytometry analyses; Diego Megias and Manuel Perez (Confocal
   Microscopy Unit) for assistance with confocal microscopy; and the Mouse
   Genome Editing Unit for support with the generation of the mouse strains
   described here. We also thank Ignacio Perez de Castro (Instituto de
   Salud Carlos III, Madrid, Spain) for sharing the EGFP-KRAS4B plasmid and
   Orlando Dominguez (Genomics Unit) and Pedro P. Lopez-Casas (Clinical
   Research Program) for their advice on exome sequencing. This work was
   supported by grants from the European Research Council
   (ERC-2015-AdG/695566, THERACAN), the Spanish Ministry of Science,
   Innovation and Universities (RTC-2017-6576-1), and the Autonomous
   Community of Madrid (B2017/BMD-3884 iLUNG-CM); a grant from the CRIS
   Cancer Foundation (to M.B.); and a grant from the Spanish Ministry of
   Science, Innovation and Universities (RTI2018-094664-B-I00, to M.B. and
   M.M.). M.B. is a recipient of an Endowed Chair from the AXA Research
   Fund. M.S. was supported by predoctoral contract "Severo Ochoa"
   (BES-2016-079096) from the SpanishMinistry of Science, Innovation and
   Universities. G.P. was a recipient of a "Young Ph.D." grant from the
   Government of the Community of Madrid. F.F.-G. was supported by a
   formacion de profesorado universitario (FPU) fellowship from the Spanish
   Ministry of Science, Innovation and Universities.
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NR 38
TC 11
Z9 11
U1 1
U2 4
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD JUL 27
PY 2021
VL 118
IS 30
AR e2023112118
DI 10.1073/pnas.2023112118
PG 10
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA UA3CK
UT WOS:000685039700011
PM 34301865
OA Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Loiselle, JJ
   Sutherland, LC
AF Loiselle, Julie J.
   Sutherland, Leslie C.
TI Differential downregulation of Rbm5 and Rbm10 during skeletal and
   cardiac differentiation
SO IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY-ANIMAL
LA English
DT Article
DE Rbm5; Rbm10; H9c2; Myoblast differentiation; Apoptosis
ID CANDIDATE TUMOR-SUPPRESSOR; QUANTITATIVE RT-PCR; MYOGENIC
   DIFFERENTIATION; CD95-MEDIATED APOPTOSIS; GENE-EXPRESSION; LUNG-CANCER;
   REAL-TIME; CELLS; RBM5/LUCA-15/H37; PROLIFERATION
AB RBM5 and RBM10 play an important role in transformed cells. This role includes influencing the alternative splicing and/or expression of factors involved in apoptosis and cell cycle arrest. To date, all apoptosis studies relating to RBM5 and RBM10 have been performed in transformed cell lines, potentially confounding mechanistic interpretation because of the many mutations present in this population. The objective of this study was to identify a physiologically relevant non-transformed system in which to examine the expression of RBM5 and RBM10 for future mechanistic and target identification studies. Our system of choice was H9c2 myoblast differentiation. Expression of Rbm5, Rbm10, and selected splice variants was examined by end-point or real-time PCR and Western blot. We determined that all of the examined Rbm5 and Rbm10 variants were expressed in H9c2 myoblasts and throughout skeletal and cardiac myoblast differentiation. Furthermore, expression was differentially downregulated in a lineage-specific manner, suggesting lineage-specific regulation and roles. There was no correlation between mRNA and protein expression for Rbm5, Rbm10v1, and Rbm10v2, suggesting post-transcriptional and/or post-translational regulation. The differentiation expression profiles suggest the products encoded by Rbm5 and Rbm10 play a more important role in skeletal than cardiac myoblast differentiation and influence similar processes in non-tumor, differentiating cells as in transformed cells. The data also suggest that full-length Rbm5 and Rbm10 play a less important role than their alternative splice variants and/or shorter protein isoforms. This work establishes myoblast differentiation as a relevant model in which to conduct functional studies regarding Rbm5 and Rbm10.
C1 [Loiselle, Julie J.; Sutherland, Leslie C.] Laurentian Univ, Dept Biol, Sudbury, ON P3E 2C6, Canada.
   [Loiselle, Julie J.; Sutherland, Leslie C.] AMRIC, Hlth Sci North, Sudbury, ON P3E 5J1, Canada.
   [Sutherland, Leslie C.] Laurentian Univ, Biomol Sci Program, Sudbury, ON P3E 2C6, Canada.
   [Sutherland, Leslie C.] Laurentian Univ, Dept Chem & Biochem, Sudbury, ON P3E 2C6, Canada.
   [Sutherland, Leslie C.] Laurentian Univ, Northern Ontario Sch Med, Div Med Sci, Sudbury, ON P3E 2C6, Canada.
   [Sutherland, Leslie C.] Univ Ottawa, Dept Med, Div Med Oncol, Ottawa, ON, Canada.
C3 Laurentian University; Health Sciences North; Laurentian University;
   Laurentian University; Laurentian University; NOSM University;
   University of Ottawa
RP Sutherland, LC (corresponding author), Univ Ottawa, Dept Med, Div Med Oncol, Ottawa, ON, Canada.
EM jloiselle@amric.ca; lsutherland@amric.ca
FU NSERC Alexander Graham Bell Canada Graduate Scholarship; Ontario
   Graduate Scholarship; NSERC [9043429]; Northern Cancer Foundation
FX This work was funded by an NSERC Alexander Graham Bell Canada Graduate
   Scholarship and an Ontario Graduate Scholarship to J.J.L., an NSERC
   Grant # 9043429 to L.C.S., and the Northern Cancer Foundation.
CR Andres V, 1996, J CELL BIOL, V132, P657, DOI 10.1083/jcb.132.4.657
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NR 35
TC 16
Z9 16
U1 1
U2 13
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1071-2690
EI 1543-706X
J9 IN VITRO CELL DEV-AN
JI In Vitro Cell. Dev. Biol.-Anim.
PD APR
PY 2014
VL 50
IS 4
BP 331
EP 339
DI 10.1007/s11626-013-9708-z
PG 9
WC Cell Biology; Developmental Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Developmental Biology
GA AF0NG
UT WOS:000334410700007
PM 24178303
DA 2025-04-10
ER

PT J
AU DiMaio, TA
   Sheibani, N
AF DiMaio, Terri A.
   Sheibani, Nader
TI PECAM-1 isoform-specific functions in PECAM-1-deficient brain
   microvascular endothelial cells
SO MICROVASCULAR RESEARCH
LA English
DT Article
DE CD31; alternative splicing; signal transduction; cell migration; cell
   adhesion; MAPK/ERKs; SHP-2; src
ID ADHESION MOLECULE-1 PECAM-1; PROTEIN-TYROSINE-PHOSPHATASE; CYTOPLASMIC
   DOMAIN; BETA-CATENIN; THROMBOSPONDIN-1 EXPRESSION; TRANSENDOTHELIAL
   MIGRATION; LEUKOCYTE EMIGRATION; HEMATOPOIETIC-CELLS; PLATELET;
   ACTIVATION
AB Platelet endothelial cell adhesion molecule-1 (PECAM-1) is alternatively spliced generating eight isoforms that only differ in the length of their cytoplasmic domain. Multiple isoforms of PECAM-1 are present in the endothelium and their expression levels are regulated during vascular development and angiogenesis. However, the functional significance of PECAM-I isoforms during these processes remains largely unknown. We recently showed that mouse brain endothelial (bEND) cells prepared from PECAM-I-deficient (PECAM-1-/-) mice differ in their cell adhesive and migratory properties compared to PECAM-1+/+ bEND cells. Here we demonstrate that the restoration of PECAM-I expression in these cells affects their adhesive and migratory properties in an isoform-specific manner. Expression of Delta 14&15 PECAM-1, the predominant isoform present in the mouse endothelium, in PECAM-1-/- bEND cells activated MAPKIERKs, disrupted adherens junctions, and enhanced cell migration and capillary morphogenesis in Matrigel. In contrast, expression of Delta 15 PECAM-1 in PECAM-1-/- bEND cells had minimal effects on their activation of MAPKIERKs, migration, and capillary morphogenesis. The effects of PECAM-1 on cell adhesive and migratory properties were mediated in an isoform-specific manner, at least in part, through its interactions with intracellular signaling proteins, including SHP-2 and Src. These results suggest that the impact of PECAM-1 on EC adhesion, migration, and capillary morphogenesis is modulated by alternative splicing of its cytoplasmic domain. (c) 2007 Elsevier Inc. All rights reserved.
C1 [DiMaio, Terri A.; Sheibani, Nader] Univ Wisconsin, Sch Med & Publ Hlth, Dept Ophthalmol & Visual Sci, Madison, WI 53792 USA.
   [Sheibani, Nader] Univ Wisconsin, Dept Pharmacol, Madison, WI 53792 USA.
C3 University of Wisconsin System; University of Wisconsin Madison;
   University of Wisconsin System; University of Wisconsin Madison
RP Sheibani, N (corresponding author), Univ Wisconsin, Sch Med & Publ Hlth, Dept Ophthalmol & Visual Sci, 600 Highland Ave,K6-458 CSC, Madison, WI 53792 USA.
EM nsheibanikar@wisc.edu
RI Sheibani, Nader/AAG-2379-2020
FU NEI NIH HHS [R01 EY016695-01A2, EY13700, R03 EY013700-01A2, R03
   EY013700, EY16695, R01 EY016695] Funding Source: Medline
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NR 51
TC 26
Z9 32
U1 0
U2 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0026-2862
J9 MICROVASC RES
JI Microvasc. Res.
PD MAR
PY 2008
VL 75
IS 2
BP 188
EP 201
DI 10.1016/j.mvr.2007.10.001
PG 14
WC Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 284DI
UT WOS:000254685300007
PM 18029285
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Ozuemba, B
   Masilamani, TJ
   Loiselle, JJ
   Koenderink, B
   Vanderbeck, KA
   Knee, J
   Larivière, C
   Sutherland, LC
AF Ozuemba, Bartholomew
   Masilamani, Twinkle J.
   Loiselle, Julie J.
   Koenderink, Benjamin
   Vanderbeck, Kaitlin A.
   Knee, Jose
   Lariviere, Celine
   Sutherland, Leslie C.
TI Co- and post-transcriptional regulation of Rbm5 and Rbm10
   in mouse cells as evidenced by tissue-specific, developmental and
   disease-associated variation of splice variant and protein expression
   levels
SO GENE
LA English
DT Article
DE RBM5; RBM10; Gene expression; Mouse; Primary tissue; C2C12; Denervation
ID CANDIDATE TUMOR-SUPPRESSOR; DYSTONIA-MUSCULORUM MICE; RNA-BINDING
   PROTEINS; SKELETAL-MUSCLE; GENE-EXPRESSION; MESSENGER-RNA; CANCER-CELLS;
   DIFFERENTIATION; APOPTOSIS; C2C12
AB Background: Expression and function of the two RNA binding proteins and regulators of alternative splicing, RBM5 and RBM10, have largely been studied in human tissue and cell lines. The objective of the study described herein was to examine their expression in mouse tissue, in order to lay the framework for comprehensive functional studies using mouse models.
   Methods: All RNA variants of Rbm5 and Rbm10 were examined in a range of normal primary mouse tissues. RNA and protein were examined in differentiating C2C12 myoblasts and in denervated and dystonin-deficient mouse skeletal muscle.
   Results: All Rbm5 and Rbm10 variants examined were expressed in all mouse tissues and cell lines. In general, Rbm5 and Rbm10 RNA expression was higher in brain than in skin. RNA expression levels were more varied between cardiac and skeletal muscle, depending on the splice variant: for instance, Rbm10v1 RNA was higher in skeletal than cardiac muscle, whereas Rbm10v3 RNA was higher in cardiac than skeletal muscle. In mouse brain, cardiac and skeletal muscle, RNA encoding an approximately 17 kDa potential paralogue of a small human RBM10 isoform was detected, and the protein observed in myoblasts and myotubes. Expression of Rbm5 and Rbm10 RNA remained constant during C2C12 myogenesis, but protein levels significantly decreased. In two muscle disease models, neither Rbml 0 nor Rbm5 showed significant transcriptional changes, although significant specific alternative splicing changes of Rbm5 pre-mRNA were observed. Increased RBM10 protein levels were observed following denervation.
   Conclusions: The varied co-transcriptional and post-transcriptional regulation aspects of Rbm5 and Rbm10 expression associated with mouse tissues, myogenesis and muscle disease states suggest that a mouse model would be an interesting and useful model in which to study comprehensive functional aspects of RBM5 and RBM10. (C) 2016 Elsevier B.V. All rights reserved.
C1 [Ozuemba, Bartholomew] Univ Skovde, Sch Life Sci, S-54128 Skovde, Sweden.
   [Masilamani, Twinkle J.; Loiselle, Julie J.; Lariviere, Celine; Sutherland, Leslie C.] Laurentian Univ, Biomol Sci Program, 935 Ramsey Lake Rd, Sudbury, ON P3E 2C6, Canada.
   [Koenderink, Benjamin; Knee, Jose; Sutherland, Leslie C.] AMRIC, Hlth Sci North, 41 Ramsey Lake Rd, Sudbury, ON P3E 5J1, Canada.
   [Vanderbeck, Kaitlin A.; Lariviere, Celine] Laurentian Univ, Sch Human Kinet, 935 Ramsey Lake Rd, Sudbury, ON P3E 2C6, Canada.
   [Sutherland, Leslie C.] Laurentian Univ, Northern Ontario Sch Med, Div Med Sci, 935 Ramsey Lake Rd, Sudbury, ON P3E 2C6, Canada.
   [Sutherland, Leslie C.] Laurentian Univ, Dept Chem & Biochem, 935 Ramsey Lake Rd, Sudbury, ON P3E 2C6, Canada.
   [Sutherland, Leslie C.] Univ Ottawa, Dept Med, Div Med Oncol, Ottawa, ON, Canada.
C3 University of Skovde; Laurentian University; Health Sciences North;
   Laurentian University; NOSM University; Laurentian University;
   Laurentian University; University of Ottawa
RP Sutherland, LC (corresponding author), AMRIC, Hlth Sci North, 41 Ramsey Lake Rd, Sudbury, ON P3E 5J1, Canada.
EM lsutherland@amric.ca
FU NSERC [9043429]; Alexander Graham Bell Canada Graduate
   Scholarship-Masters; Laurentian University Research Fund grant
FX This work was funded by NSERC Grant #9043429 to L.C.S., an Alexander
   Graham Bell Canada Graduate Scholarship-Masters to J.J.L., an NSERC
   Vanier Award to T.J.M. and a Laurentian University Research Fund grant
   to C.L.
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NR 56
TC 5
Z9 5
U1 0
U2 12
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD APR 10
PY 2016
VL 580
IS 1
BP 26
EP 36
DI 10.1016/j.gene.2015.12.070
PG 11
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA DE8OO
UT WOS:000370896100004
PM 26784654
DA 2025-04-10
ER

PT J
AU Boron, WF
   Chen, L
   Parker, MD
AF Boron, Walter F.
   Chen, Liming
   Parker, Mark D.
TI Modular structure of sodium-coupled bicarbonate transporters
SO JOURNAL OF EXPERIMENTAL BIOLOGY
LA English
DT Review
DE NBC; acid-base; splice variants
ID ELECTROGENIC NA+-HCO3-COTRANSPORTER; CARBONIC-ANHYDRASE-II; DRIVEN
   CL-/HCO3-EXCHANGER; RENAL TUBULAR-ACIDOSIS; ELECTRONEUTRAL
   SODIUM/BICARBONATE COTRANSPORTER; INTRACELLULAR PH REGULATION;
   RECEPTOR-BINDING PROTEIN; N-TERMINAL DOMAIN;
   FUNCTIONAL-CHARACTERIZATION; RAT-KIDNEY
AB Mammalian genomes contain 10 SLC4 genes that, between them, encode three Cl-HCO3 exchangers, five Na+-coupled HCO3 transporters (NCBTs), one reported borate transporter, and what is reported to be a fourth Cl-HCO3 exchanger. The NCBTs are expressed throughout the body and play important roles in maintaining intracellular and whole-body pH, as well as contributing to transepithelial transport processes. The importance of NCBTs is underscored by the genetic association of dysfunctional NCBT genes with blindness, deafness, epilepsy, hypertension and metal retardation. Key to understanding the action and regulation of NCBTs is an appreciation of the diversity of NCBT gene products. The transmembrane domains of human NCBT paralogs are 50-84% identical to each other at the amino acid level, and are capable of a diverse range of actions, including electrogenic Na/HCO3 cotransport (i.e. NBCe1 and NBCe2) and electroneutral Na/HCO3 cotransport (i.e. NBCn1 and NBCn2), as well as Na(+-)dependent Cl-HCO3 exchange (i.e. NDCBE). Furthermore, by the use of alternative promoters and alternative-splicing events, individual SLC4 genes have the potential to generate multiple splice variants (as many as 16 in the case of NBCn1), each of which could have unique temporal and spatial patterns of distribution, unitary transporter activity (i.e. flux mediated by one molecule), array of protein-binding partners, and complement of regulatory stimuli. In the first section of this review, we summarize our present knowledge of the function and distribution of mammalian NCBTs and their multiple variants. In the second section of this review we consider the molecular consequences of NCBT variation.
C1 [Boron, Walter F.; Chen, Liming; Parker, Mark D.] Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USA.
C3 University System of Ohio; Case Western Reserve University
RP Parker, MD (corresponding author), Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, 10900 Euclid Ave, Cleveland, OH 44106 USA.
EM mark.d.parker@case.edu
RI Parker, Mark/AAH-5575-2020; Chen, Li-Ming/AAU-2363-2021; Boron,
   Walter/ABI-1564-2020
OI Chen, Li-Ming/0000-0002-8129-9563; Boron, Walter/0000-0003-4741-7287
FU NIH
FX This work was supported by the NIH. Deposited in PMC for release after
   12 months.
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   ZHU Q, 2008, J AM SOC NEPHROL, V19, pA344
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NR 127
TC 111
Z9 130
U1 2
U2 9
PU COMPANY BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING, STATION RD, HISTON, CAMBRIDGE CB24 9LF, ENGLAND
SN 0022-0949
EI 1477-9145
J9 J EXP BIOL
JI J. Exp. Biol.
PD JUN 1
PY 2009
VL 212
IS 11
BP 1697
EP 1706
DI 10.1242/jeb.028563
PG 10
WC Biology; Zoology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Life Sciences & Biomedicine - Other Topics; Zoology
GA 446HY
UT WOS:000266113900012
PM 19448079
OA Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Graf, EM
   Bock, M
   Heubach, JF
   Zahanich, I
   Boxberger, S
   Richter, W
   Schultz, JH
   Ravens, U
AF Graf, EM
   Bock, M
   Heubach, JF
   Zahanich, I
   Boxberger, S
   Richter, W
   Schultz, JH
   Ravens, U
TI Tissue distribution of a human Cav1.2 α1 subunit
   splice variant with a 75 bp insertion
SO CELL CALCIUM
LA English
DT Article
DE L-type Ca2+ channel; alpha(1) 1.2 subunit; splice variant; human
   mesenchymal stem cells; semi-quantitative RT-PCR; single cell RT-PCR
ID CALCIUM-CHANNEL; FUNCTIONAL EXPRESSION; MOLECULAR DIVERSITY;
   TRANSCRIPTS; MYOCYTES; CLONING; CELLS; CDNA
AB Mesenchymal stem cells from human bone marrow (MSC) express mRNA encoding the L-type Ca2+ channel Ca(v)1.2 alpha(1) subunit (alpha(1) 1.2). We now describe a splice variant including an alternative exon of 75 bp in the region between exons 9 and 10, which we identified in MSC by semi-quantitative RT-PCR. With primers specific for variants including (+9*) or excluding the 75 bp insertion (-9*), we found comparable mRNA expression patterns in MSC and in primary cultures of related connective tissue cells (chondrocytes, osteoblasts and fibroblasts). Since culture conditions might have altered variant expression, we investigated mRNA levels in various native human tissue samples (cartilage, bone, fat, liver, kidney, aorta, bladder, cardiac ventricle and atrium, CNS). We found highest levels of the +9* variant in aorta, containing smooth muscle and connective tissue cells, but the variant was expressed in all tissues. We therefore hypothesized that broad expression of +9* might be linked to the presence of vasculature and/or connective tissue structures, rather than to tissue-specific parenchymal cells (e.g. cardiomyocytes). To test this hypothesis we separated human atrium into a cardiomyocyte-enriched fraction and a cardiomyocyte-depleted fraction. RT-PCR demonstrated significantly larger levels of the +9* variant in the non-cardiomyocyte fraction. The result was even more clear in single cell RT-PCR experiments, where the +9* variant was undetectable in cardiomyocytes but present in non-cardiomyocytes. We conclude that the +9* variant is present in all human tissues investigated so far, and suggest that expression in human atrium is associated with vascular smooth muscle and/or connective tissue cells. (c) 2005 Elsevier Ltd. All rights reserved.
C1 Tech Univ Dresden, Med Fak Carl Gustav Carus, Inst Pharmakol & Toxikol, D-01307 Dresden, Germany.
   Tech Univ Dresden, Med Fak Carl Gustav Carus, Med Klin & Poliklin 1, D-01307 Dresden, Germany.
   Heidelberg Univ, Stiftung Orthopad Klin, D-69118 Heidelberg, Germany.
   Univ Hamburg, Klinikum Eppendorf, Inst Vegetat Physiol & Pathophysiol, D-20246 Hamburg, Germany.
C3 Technische Universitat Dresden; Carl Gustav Carus University Hospital;
   Technische Universitat Dresden; Carl Gustav Carus University Hospital;
   Ruprecht Karls University Heidelberg; University of Hamburg
RP Tech Univ Dresden, Med Fak Carl Gustav Carus, Inst Pharmakol & Toxikol, Fetscherstasse 74, D-01307 Dresden, Germany.
EM eva.graf@mailbox.tu-dresden.de
RI Richter, Wiltrud/V-3217-2017
OI Richter, Wiltrud/0000-0003-4694-2768; Schultz,
   Jobst-Hendrik/0000-0001-9433-3970
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NR 35
TC 22
Z9 26
U1 0
U2 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0143-4160
EI 1532-1991
J9 CELL CALCIUM
JI Cell Calcium
PD JUL
PY 2005
VL 38
IS 1
BP 11
EP 21
DI 10.1016/j.ceca.2005.03.005
PG 11
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA 945UR
UT WOS:000230528200002
PM 15916803
DA 2025-04-10
ER

PT J
AU Katzemich, A
   Long, JY
   Jani, K
   Lee, BR
   Schöck, F
AF Katzemich, Anja
   Long, Jenny Yanyan
   Jani, Klodiana
   Lee, Byeo Ri
   Schoeck, Frieder
TI Muscle type-specific expression of Zasp52 isoforms in Drosophila
SO GENE EXPRESSION PATTERNS
LA English
DT Article
DE Zasp; Drosophila; PDZ-LIM domain protein; Alp/Enigma family; Alternative
   splicing; Muscle attachment; Z disk assembly; Myofibril assembly; Heart
   muscle; Visceral muscle; Somatic muscle
ID DILATED CARDIOMYOPATHY; PROTEIN; CYPHER; DEFICIENT
AB Zasp52 is a member of the PDZ-LIM domain protein family in Drosophila, which comprises Enigma, ENH, ZASP, Alp, CLP36, RIL, and Mystique in vertebrates. Drosophila Zasp52 colocalizes with integrins at myotendinous junctions and with alpha-actinin at Z-disks, and is required for muscle attachment as well as Z-disk assembly and maintenance. Here we document 13 Zasp52 splice variants giving rise to six different LIM domains. We demonstrate stage- and tissue-specific expression in different muscle types for Zasp52 isoforms encoding different LIM domains. In particular, LIM1b is expressed only in heart muscle and certain somatic muscles, implying muscle-specific functions in Z-disk assembly or maintenance. (C) 2011 Elsevier B.V. All rights reserved.
C1 [Katzemich, Anja; Long, Jenny Yanyan; Jani, Klodiana; Lee, Byeo Ri; Schoeck, Frieder] McGill Univ, Dept Biol, Montreal, PQ H3A 1B1, Canada.
C3 McGill University
RP Schöck, F (corresponding author), McGill Univ, Dept Biol, 1205 Dr Penfield Ave, Montreal, PQ H3A 1B1, Canada.
EM frieder.schoeck@mcgill.ca
RI Schock, Frieder/A-9990-2009
OI Schock, Frieder/0000-0002-1351-0574
FU Canadian Foundation for Innovation [9607]; Canadian Institute of Health
   Research [MOP-93727]
FX This work was supported by the New Opportunities Grant 9607 (F.S.) from
   the Canadian Foundation for Innovation, and by Operating Grant MOP-93727
   (F.S.) from the Canadian Institute of Health Research.
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NR 21
TC 17
Z9 22
U1 0
U2 7
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 1567-133X
EI 1872-7298
J9 GENE EXPR PATTERNS
JI Gene Expr. Patterns
PD DEC
PY 2011
VL 11
IS 8
BP 484
EP 490
DI 10.1016/j.gep.2011.08.004
PG 7
WC Developmental Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Developmental Biology; Genetics & Heredity
GA 854LJ
UT WOS:000297495700004
PM 21867777
DA 2025-04-10
ER

PT J
AU Li, MY
   Philantrope, F
   Diot, A
   Bourdon, JC
   Thompson, P
AF Li, Muyang
   Philantrope, Fredrick
   Diot, Alexandra
   Bourdon, Jean-Christophe
   Thompson, Patricia
TI A Novel Role of SMG1 in Cholesterol Homeostasis That Depends Partially
   on p53 Alternative Splicing
SO CANCERS
LA English
DT Article
DE SMG1; p53 beta; ABCA1; cholesterol; mevalonate; RASSF1C; miR-33a-5p;
   statin
ID MESSENGER-RNA DECAY; DOWN-REGULATION; EPIGENETIC INACTIVATION;
   EXPRESSION; ISOFORMS; GENE; P53-BETA; HSMG-1; PHOSPHORYLATION;
   IDENTIFICATION
AB SMG1, a phosphatidylinositol 3-kinase-related kinase (PIKK), essential in nonsense-mediated RNA decay (NMD), also regulates p53, including the alternative splicing of p53 isoforms reported to retain p53 functions. We confirm that SMG1 inhibition in MCF7 tumor cells induces p53 beta and show p53 gamma increase. Inhibiting SMG1, but not UPF1 (a core factor in NMD), upregulated several cholesterol pathway genes. SMG1 knockdown significantly increased ABCA1, a cholesterol efflux pump shown to be positively regulated by full-length p53 (p53 alpha). An investigation of RASSF1C, an NMD target, increased following SMG1 inhibition and reported to inhibit miR-33a-5p, a canonical ABCA1-inhibiting miRNA, did not explain the ABCA1 results. ABCA1 upregulation following SMG1 knockdown was inhibited by p53 beta siRNA with greatest inhibition when p53 alpha and p53 beta were jointly suppressed, while p53 gamma siRNA had no effect. In contrast, increased expression of MVD, a cholesterol synthesis gene upregulated in p53 deficient backgrounds, was sensitive to combined targeting of p53 alpha and p53 gamma. Phenotypically, we observed increased intracellular cholesterol and enhanced sensitivity of MCF7 to growth inhibitory effects of cholesterol-lowering Fatostatin following SMG1 inhibition. Our results suggest deregulation of cholesterol pathway genes following SMG1 knockdown may involve alternative p53 programming, possibly resulting from differential effects of p53 isoforms on cholesterol gene expression.
C1 [Li, Muyang; Philantrope, Fredrick; Thompson, Patricia] SUNY Stony Brook, Renaissance Sch Med, Dept Pathol, Stony Brook, NY 11794 USA.
   [Diot, Alexandra; Bourdon, Jean-Christophe] Univ Dundee, Ninewells Hosp & Med Sch, Div Canc Res, Dundee DD1 9SY, Scotland.
C3 State University of New York (SUNY) System; Stony Brook University;
   Stony Brook University Hospital; University of Dundee
RP Li, MY; Thompson, P (corresponding author), SUNY Stony Brook, Renaissance Sch Med, Dept Pathol, Stony Brook, NY 11794 USA.
EM muyanglee@gmail.com; fphilantrope@gmail.com; a.z.diot@dundee.ac.uk;
   j.bourdon@dundee.ac.uk; Patricia.Thompson@cshs.org
RI ; Bourdon, jean-christophe/A-4439-2008
OI Thompson, Patricia/0009-0007-3799-0334; Bourdon,
   jean-christophe/0000-0003-4623-9386
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NR 51
TC 0
Z9 1
U1 0
U2 5
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2072-6694
J9 CANCERS
JI Cancers
PD JUL
PY 2022
VL 14
IS 13
AR 3255
DI 10.3390/cancers14133255
PG 18
WC Oncology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology
GA 2Y2GY
UT WOS:000825709600001
PM 35805027
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Boon, RA
   Jaé, N
   Holdt, L
   Dimmeler, S
AF Boon, Reinier A.
   Jae, Nicolas
   Holdt, Lesca
   Dimmeler, Stefanie
TI Long Noncoding RNAs From Clinical Genetics to Therapeutic Targets?
SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
LA English
DT Review
DE cardiac; long noncoding RNA; microRNA; vascular
ID CORONARY-ARTERY-DISEASE; HUMAN HEART; MESSENGER-RNAS; 9P21 LOCUS; H19;
   ANRIL; ATHEROSCLEROSIS; IDENTIFICATION; SEQUENCE; RISK
AB Recent studies suggest that the majority of the human genome is transcribed, but only about 2% accounts for protein-coding exons. Long noncoding RNAs (lncRNAs) constitute a heterogenic class of RNAs that includes, for example, intergenic lncRNAs, antisense transcripts, and enhancer RNAs. Moreover, alternative splicing can lead to the formation of circular RNAs. In support of putative functions, GWAS for cardiovascular diseases have shown predictive single-nucleotide polymorphisms in lncRNAs, such as the 9p21 susceptibility locus that encodes the lncRNA antisense noncoding RNA in the INK4 locus (ANRIL). Many lncRNAs are regulated during disease. For example, metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) and myocardial infarction-associated transcript (MIAT) were shown to affect endothelial cell functions and diabetic retinopathy, whereas lincRNA-p21 controls neointima formation. In the heart, several lncRNAs were shown to act as microRNA sponges and to control ischemia-reperfusion injury or act as epigenetic regulators. In this review, the authors summarize the current understanding of lncRNA functions and their role as biomarkers in cardiovascular diseases. (C) 2016 by the American College of Cardiology Foundation.
C1 [Boon, Reinier A.; Jae, Nicolas; Dimmeler, Stefanie] Goethe Univ Frankfurt, Inst Cardiovasc Regenerat, D-60054 Frankfurt, Germany.
   [Boon, Reinier A.; Holdt, Lesca; Dimmeler, Stefanie] German Ctr Cardiovasc Res, Berlin, Germany.
   [Holdt, Lesca] Univ Munich, Inst Lab Med, Munich, Germany.
C3 Goethe University Frankfurt; German Centre for Cardiovascular Research;
   University of Munich
RP Dimmeler, S (corresponding author), Goethe Univ Frankfurt, Ctr Mol Med, Inst Cardiovasc Regenerat, Theodor Stern Kai 7, D-60590 Frankfurt, Germany.
EM dimmeler@em.uni-frankfurt.de
RI Dimmeler, Stefanie/D-3108-2011; Boon, Reinier/E-8423-2011
OI Boon, Reinier/0000-0001-7944-9748; Dimmeler,
   Stefanie/0000-0002-1045-2436
FU German Center for Cardiovascular Research; Deutsche
   Forschungsgemeinschaft [SFB834, SFB902]; European Research Council;
   Leducq Network "Mirvad"
FX The authors thank Rie Manavski for help with the graphic design and the
   German Center for Cardiovascular Research, the Deutsche
   Forschungsgemeinschaft (SFB834 and SFB902), the European Research
   Council (Drs. Boon and Dimmeler), and the Leducq Network "Mirvad" for
   support.
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NR 113
TC 385
Z9 410
U1 4
U2 92
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA STE 800, 230 PARK AVE, NEW YORK, NY 10169 USA
SN 0735-1097
EI 1558-3597
J9 J AM COLL CARDIOL
JI J. Am. Coll. Cardiol.
PD MAR 15
PY 2016
VL 67
IS 10
BP 1214
EP 1226
DI 10.1016/j.jacc.2015.12.051
PG 13
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA DF5NL
UT WOS:000371398700013
PM 26965544
DA 2025-04-10
ER

PT J
AU Walton, BL
   Getz, TM
   Bergmeier, W
   Lin, FC
   de Willige, SU
   Wolberg, AS
AF Walton, B. L.
   Getz, T. M.
   Bergmeier, W.
   Lin, F. -C.
   de Willige, S. Uitte
   Wolberg, A. S.
TI The fibrinogen γA/γ′ isoform does not promote acute arterial thrombosis
   in mice
SO JOURNAL OF THROMBOSIS AND HAEMOSTASIS
LA English
DT Article
DE animal models; fibrin; fibrinogen; thrombin; thrombosis
ID HUMAN-PLASMA FIBRINOGEN; MYOCARDIAL-INFARCTION; RISK-FACTOR;
   CARDIOVASCULAR-DISEASES; ISCHEMIC-STROKE; SPLICE VARIANT; CHAIN;
   INHIBITION; SEQUENCE; BINDING
AB BackgroundElevated plasma fibrinogen is associated with arterial thrombosis in humans and promotes thrombosis in mice by increasing fibrin formation and thrombus fibrin content. Fibrinogen is composed of six polypeptide chains: (A, B, and )(2). Alternative splicing of the chain leads to a dominant form (A/A) and a minor species (A/). Epidemiological studies have detected elevated A/ fibrinogen in patients with arterial thrombosis, suggesting that this isoform promotes thrombosis. However, in vitro data show that A/ is anticoagulant due to its ability to sequester thrombin and suggest its expression is upregulated in response to inflammatory processes.
   ObjectiveTo determine whether A/ fibrinogen is prothrombotic in vivo.
   MethodsWe separated A/A and A/ fibrinogen from human plasma-purified fibrinogen and determined the effects on in vitro plasma clot formation and on in vivo thrombus formation and circulating thrombin-antithrombin complexes in mice.
   Results and ConclusionsBoth A/A and A/ fibrinogen were cleaved by murine and human thrombin and were incorporated into murine and human clots. When A/A or A/ was spiked into plasma, A/A increased the fibrin formation rate to a greater extent than A/. In mice, compared to controls, A/A infusion shortened the time to carotid artery occlusion, whereas A/ infusion did not. Additionally, A/ infusion led to lower levels of plasma thrombin-antithrombin complexes following arterial injury, whereas A/A infusion did not. These data suggest that A/ binds thrombin in vivo and decreases prothrombotic activity. Together, these findings indicate that elevated levels of A/A fibrinogen promote arterial thrombosis in vivo, whereas A/ does not.
C1 [Walton, B. L.; Wolberg, A. S.] Univ N Carolina, Dept Pathol & Lab Med, Chapel Hill, NC 27599 USA.
   [Getz, T. M.; Bergmeier, W.] Univ N Carolina, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA.
   [Bergmeier, W.; Wolberg, A. S.] Univ N Carolina, McAllister Heart Inst, Chapel Hill, NC 27599 USA.
   [Lin, F. -C.] Univ N Carolina, North Carolina Translat & Clin Sci Inst, Dept Biostat, Chapel Hill, NC 27599 USA.
   [de Willige, S. Uitte] Erasmus Univ, Med Ctr, Rotterdam, Netherlands.
C3 University of North Carolina; University of North Carolina Chapel Hill;
   University of North Carolina; University of North Carolina Chapel Hill;
   University of North Carolina; University of North Carolina Chapel Hill;
   University of North Carolina; University of North Carolina Chapel Hill;
   Erasmus University Rotterdam; Erasmus MC
RP Wolberg, AS (corresponding author), Univ N Carolina, Dept Pathol & Lab Med, 815 Brinkhous Bullitt Bldg,CB 7525, Chapel Hill, NC 27599 USA.
EM alisa_wolberg@med.unc.edu
RI Wolberg, Alisa/LEN-3884-2024; Lin, Feng-Chang/ABE-9659-2020
OI Wolberg, Alisa/0000-0002-2845-2303
FU National Institutes of Health [R01HL094740, R01HL094594, T32HL069768];
   American Heart Association [12GRN T11840006]; Howard Hughes Medical
   Institute [56005708]
FX The authors thank Dr. Dougald M. Monroe and Leana LeFrapper for
   phospholipid vesicle preparations. This study was supported by research
   funding from the National Institutes of Health (R01HL094740 to A. S.
   Wolberg, R01HL094594 to W. Bergmeier, and T32HL069768 to the University
   of North Carolina and B. L. Walton), the American Heart Association
   (12GRN T11840006 to A. S. Wolberg), and the Howard Hughes Medical
   Institute (56005708 to the UNC Program in Translational Medicine and B.
   L. Walton).
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NR 43
TC 24
Z9 25
U1 0
U2 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1538-7933
EI 1538-7836
J9 J THROMB HAEMOST
JI J. Thromb. Haemost.
PD MAY
PY 2014
VL 12
IS 5
BP 680
EP 689
DI 10.1111/jth.12534
PG 10
WC Hematology; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology; Cardiovascular System & Cardiology
GA AI9XE
UT WOS:000337298100014
PM 24916154
OA Green Submitted, Bronze, Green Accepted
DA 2025-04-10
ER

PT J
AU Paquette, RL
   Nicoll, J
   Chalukya, M
   Gondek, L
   Jasek, M
   Sawyers, CL
   Shah, NP
   Maciejewski, J
AF Paquette, Ronald L.
   Nicoll, John
   Chalukya, Meenal
   Gondek, Lucas
   Jasek, Monika
   Sawyers, Charles L.
   Shah, Neil P.
   Maciejewski, Jaroslaw
TI Clonal hematopoiesis in Philadelphia chromosome-negative bone marrow
   cells of chronic myeloid leukemia patients receiving dasatinib
SO LEUKEMIA RESEARCH
LA English
DT Article
DE Chronic myeloid leukemia; Dasatinib; Cytogenetics; Single nucleotide
   polymorphism array; Myelodysplastic syndrome; TP53
ID IMATINIB MESYLATE THERAPY; CHRONIC MYELOGENOUS LEUKEMIA; MYELODYSPLASTIC
   SYNDROMES; CYTOGENETIC ABNORMALITIES; UNIPARENTAL DISOMY; CHRONIC-PHASE;
   C-ABL; ESSENTIAL THROMBOCYTHEMIA; X-CHROMOSOME; PH-CELLS
AB A clonal cytogenetic abnormality was observed in Philadelphia chromosome-negative bone marrow cells of 6/27 chronic myeloid leukemia patients (+8 in 4, -7 in 1, and 20q- in 1) with dasatinib-induced remissions. The X-linked human androgen receptor gene assay demonstrated clonality in one additional patient. Single nucleotide polymorphism array analysis revealed somatic uniparental disomy involving chromosome 17(p12-pter) in another patient. The TP53 gene had a 5' splice site deletion of exon 6 that caused alternative splicing, frame shifting and introduction of a premature stop codon. After three years, no patient developed myelodysplastic syndrome or acute myeloid leukemia. (C) 2009 Elsevier Ltd. All rights reserved.
C1 [Paquette, Ronald L.] Univ Calif Los Angeles, Div Hematol Oncol, Dept Med, Los Angeles, CA 90095 USA.
   [Gondek, Lucas; Jasek, Monika; Maciejewski, Jaroslaw] Taussig Canc Inst, Cleveland Clin, Dept Expt Hematol & Hematopoeisis, Cleveland, OH USA.
   [Sawyers, Charles L.] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10021 USA.
   [Shah, Neil P.] Univ CA, Dept Med, San Francisco, CA USA.
C3 University of California System; University of California Los Angeles;
   Cleveland Clinic Foundation; Memorial Sloan Kettering Cancer Center
RP Paquette, RL (corresponding author), Univ Calif Los Angeles, Div Hematol Oncol, Dept Med, 42-121 CHS,10833 Conte Ave, Los Angeles, CA 90095 USA.
EM paquette@ucla.edu
RI Jasek, Monika/LWK-8331-2024; Sawyers, Charles/G-5327-2016
OI Jasek, Monika/0000-0001-6778-2615
FU NIH National Center for Research Resources; Leukemia and Lymphoma
   Society; Greg Wojahn Memorial Fund
FX This research was supported by the NIH National Center for Research
   Resources. Its contents are solely the responsibility of the authors and
   do not necessarily represent the official views of the NIH. Additional
   support came from the Leukemia and Lymphoma Society, and the Greg Wojahn
   Memorial Fund.
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NR 33
TC 5
Z9 5
U1 0
U2 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0145-2126
J9 LEUKEMIA RES
JI Leuk. Res.
PD JUN
PY 2010
VL 34
IS 6
BP 708
EP 713
DI 10.1016/j.leukres.2009.08.032
PG 6
WC Oncology; Hematology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology; Hematology
GA 586WR
UT WOS:000276946200006
PM 19804904
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Giannarelli, C
   Alique, M
   Rodriguez, DT
   Yang, DK
   Jeong, D
   Calcagno, C
   Hutter, R
   Millon, A
   Kovacic, JC
   Weber, T
   Faries, PL
   Soff, GA
   Fayad, ZA
   Hajjar, RJ
   Fuster, V
   Badimon, JJ
AF Giannarelli, Chiara
   Alique, Matilde
   Rodriguez, David T.
   Yang, Dong Kwon
   Jeong, Dongtak
   Calcagno, Claudia
   Hutter, Randolph
   Millon, Antoine
   Kovacic, Jason C.
   Weber, Thomas
   Faries, Peter L.
   Soff, Gerald A.
   Fayad, Zahi A.
   Hajjar, Roger J.
   Fuster, Valentin
   Badimon, Juan J.
TI Alternatively Spliced Tissue Factor Promotes Plaque Angiogenesis Through
   the Activation of Hypoxia-Inducible Factor-1α and Vascular Endothelial
   Growth Factor Signaling
SO CIRCULATION
LA English
DT Article
DE alternative splicing; atherosclerosis; hypoxia-inducible factor 1;
   neovascularization, physiologic procoagulant, tissue factor;
   thromboplastin; vascular endothelial growth factors
ID ACUTE CORONARY SYNDROMES; AMERICAN-HEART-ASSOCIATION; INTRAPLAQUE
   HEMORRHAGE; TUMOR ANGIOGENESIS; ARTERY-DISEASE; ATHEROSCLEROTIC LESIONS;
   CANCER PROGRESSION; RISK-FACTORS; EXPRESSION; COAGULATION
AB Background-Alternatively spliced tissue factor (asTF) is a novel isoform of full-length tissue factor, which exhibits angiogenic activity. Although asTF has been detected in human plaques, it is unknown whether its expression in atherosclerosis causes increased neovascularization and an advanced plaque phenotype.
   Methods and Results-Carotid (n=10) and coronary (n=8) specimens from patients with stable or unstable angina were classified as complicated or uncomplicated on the basis of plaque morphology. Analysis of asTF expression and cell type-specific expression revealed a strong expression and colocalization of asTF with macrophages and neovessels within complicated, but not uncomplicated, human plaques. Our results showed that the angiogenic activity of asTF is mediated via hypoxia-inducible factor-1 alpha upregulation through integrins and activation of phosphatidylinositol-3-kinase/Akt and mitogen-activated protein kinase pathways. Hypoxia-inducible factor-1 alpha upregulation by asTF also was associated with increased vascular endothelial growth factor expression in primary human endothelial cells, and vascular endothelial growth factor-Trap significantly reduced the angiogenic effect of asTF in vivo. Furthermore, asTF gene transfer significantly increased neointima formation and neovascularization after carotid wire injury in ApoE(-/-) mice.
   Conclusions-The results of this study provide strong evidence that asTF promotes neointima formation and angiogenesis in an experimental model of accelerated atherosclerosis. Here, we demonstrate that the angiogenic effect of asTF is mediated via the activation of the hypoxia-inducible factor-1/vascular endothelial growth factor signaling. This mechanism may be relevant to neovascularization and the progression and associated complications of human atherosclerosis as suggested by the increased expression of asTF in complicated versus uncomplicated human carotid and coronary plaques.
C1 [Giannarelli, Chiara; Alique, Matilde; Rodriguez, David T.; Badimon, Juan J.] Icahn Sch Med Mt Sinai, AtheroThrombosis Res Unit, New York, NY 10029 USA.
   [Giannarelli, Chiara; Yang, Dong Kwon; Jeong, Dongtak; Kovacic, Jason C.; Weber, Thomas; Hajjar, Roger J.; Fuster, Valentin] Icahn Sch Med Mt Sinai, Cardiovasc Res Inst, New York, NY 10029 USA.
   [Calcagno, Claudia; Millon, Antoine; Fayad, Zahi A.] Icahn Sch Med Mt Sinai, Translat & Mol Imaging Inst, New York, NY 10029 USA.
   [Calcagno, Claudia; Millon, Antoine; Fayad, Zahi A.] Icahn Sch Med Mt Sinai, Dept Radiol, New York, NY 10029 USA.
   [Faries, Peter L.] Icahn Sch Med Mt Sinai, New York, NY 10029 USA.
   [Soff, Gerald A.] Mem Sloan Kettering, New York, NY USA.
   [Fuster, Valentin] CNIC, Madrid, Spain.
C3 Icahn School of Medicine at Mount Sinai; Icahn School of Medicine at
   Mount Sinai; Icahn School of Medicine at Mount Sinai; Icahn School of
   Medicine at Mount Sinai; Icahn School of Medicine at Mount Sinai;
   Memorial Sloan Kettering Cancer Center; Centro Nacional de
   Investigaciones Cardiovasculares (CNIC)
RP Giannarelli, C (corresponding author), Icahn Sch Med Mt Sinai, AtheroThrombosis Res Unit, Cardiovasc Res Inst, One Gustave L Levy Pl, New York, NY 10029 USA.
EM chiara.giannarelli@mssm.edu
RI Weber, Thomas/A-2363-2008; Jeong, Dongtak/AAK-4194-2020; Fayad,
   Zahi/Z-3272-2019; Fuster, Valentin/H-4319-2015; Alique,
   Matilde/I-1341-2016
OI Weber, Thomas/0000-0002-0494-0484; Lab, Carmen/0000-0002-5935-3236;
   Fuster, Valentin/0000-0002-9043-9986; Alique,
   Matilde/0000-0002-7912-1133; Carmen, Team1/0000-0003-4234-1746; Carmen,
   Team3/0000-0002-3614-0924; Kovacic, Jason/0000-0003-4555-769X
FU National Institutes of Health-National Heart, Lung, and Blood Institute
   [K23HL111339, 5T32HL 7824-15, R01 HL093183, HL088434, R01HL071021,
   K08HL111330]; Leducq Foundation (Transatlantic Network of Excellence
   Award); AstraZeneca
FX This work was supported by National Institutes of Health-National Heart,
   Lung, and Blood Institute grants K23HL111339, 5T32HL 7824-15 (Dr
   Giannarelli), R01 HL093183, HL088434 (Dr Hajjar), R01HL071021 (Dr
   Fayad), and K08HL111330 (Dr Kovacic). We acknowledge research support
   from The Leducq Foundation (Transatlantic Network of Excellence Award)
   to Drs Hajjar and Kovacic and AstraZeneca (Dr Kovacic).
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NR 50
TC 45
Z9 49
U1 1
U2 24
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7322
EI 1524-4539
J9 CIRCULATION
JI Circulation
PD OCT 7
PY 2014
VL 130
IS 15
BP 1274
EP 1286
DI 10.1161/CIRCULATIONAHA.114.006614
PG 13
WC Cardiac & Cardiovascular Systems; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA AQ8VH
UT WOS:000343113800014
PM 25116956
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Breher, SS
   Mavridou, E
   Brenneis, C
   Froese, A
   Arnold, HH
   Brand, T
AF Breher, SS
   Mavridou, E
   Brenneis, C
   Froese, A
   Arnold, HH
   Brand, T
TI Popeye domain containing gene 2 (Popdc2) is a myocyte-specific
   differentiation marker during chick heart development
SO DEVELOPMENTAL DYNAMICS
LA English
DT Article
DE Popeye domain containing proteins; Popdc2; heart development; left-right
   asymmetry; inner curvature; outer curvature; compact layer myocardium;
   alternative splicing; chick embryo
ID RETINOIC ACID; NEUREGULIN RECEPTOR; CARDIAC DEVELOPMENT;
   SKELETAL-MUSCLE; EXPRESSION; BVES; PROLIFERATION; MORPHOGENESIS;
   EPICARDIUM; INDUCTION
AB The Popeye domain containing (popdc) genes constitute a novel gene family encoding proteins of the plasma membrane in muscle cells, with three N-terminal transmembrane domains and a cytoplasmic carboxy terminus. In vertebrates, three members of the Popdc gene family have been described. However, in the chick system only two cDNAs, Popdc1 and Popdc3, have been cloned previously. By screening a chick expressed sequence tag database, we report here the identification of five alternatively spliced chick Popdc2 cDNAs with different carboxy termini. Northern blot analysis revealed expression of Popdc2 predominantly in the myocardium and weaker expression in skeletal muscle. By whole-mount in situ hybridization, chick Popdc2 was first detected at Hamburger and Hamilton (HH) stage 7 within the anterior part of the heart fields. In the tubular heart, atrial and ventricular precursor cells stained positively for Popdc2. Weaker expression was observed in myocardium of the outflow tract and sinus venosus. By HH stage 18, the outer curvature myocardium was strongly stained, whereas expression in myocardium of the inner curvature was negligible. Popdc2 expression was absent from the endocardium and propepicardial organ. At HH stage 36, Popdc2 expression was confined to the compact layer myocardium. In addition to the heart, Popdc2 expression was also observed in the myotome and in the muscle-forming fields of the limbs. Our results indicate that Popdc2 is highly expressed in the developing heart and may serve as a novel marker of myocardial differentiation in the chick embryo. Developmental Dynamics 229.695-702, 2004. (C) 2004 Wiley-Liss, Inc.
C1 Tech Univ Carolo Wilhelmina Braunschweig, Inst Biochem & Biotechnol, Dept Cell & Mol Biol, D-38106 Braunschweig, Germany.
C3 Braunschweig University of Technology
RP Tech Univ Carolo Wilhelmina Braunschweig, Inst Biochem & Biotechnol, Dept Cell & Mol Biol, Spielmannstr 7, D-38106 Braunschweig, Germany.
EM t.brand@tu-bs.de
RI Brand, Thomas/AAR-7545-2020
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NR 32
TC 25
Z9 30
U1 0
U2 0
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1058-8388
EI 1097-0177
J9 DEV DYNAM
JI Dev. Dyn.
PD MAR
PY 2004
VL 229
IS 3
BP 695
EP 702
DI 10.1002/dvdy.20015
PG 8
WC Anatomy & Morphology; Developmental Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Anatomy & Morphology; Developmental Biology
GA 780EP
UT WOS:000189359600031
PM 14991725
OA Bronze
DA 2025-04-10
ER

PT J
AU Mukherjee, S
   Sikdar, SK
AF Mukherjee, Sourajit
   Sikdar, Sujit Kumar
TI Intracellular activation of full-length human TREK-1 channel by hypoxia,
   high lactate, and low pH denotes polymodal integration by ischemic
   factors
SO PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
LA English
DT Article
DE Hypoxia; Ischemia; hTREK-1; Lactate; Neuroprotection; Alternative
   splicing
ID DOMAIN K+ CHANNELS; POTASSIUM CHANNELS; LARGE-CONDUCTANCE; FATTY-ACIDS;
   RAT; OXYGEN; K(2P)2.1; NEUROPROTECTION; SENSITIVITY; MODULATION
AB TREK-1, a two-pore domain potassium channel, responds to ischemic levels of intracellular lactate and acidic pH to provide neuroprotection. There are two splice variants of hTREK1: the shorter splice variant having a shorter N-terminus compared with the full-length hTREK1 with similar C-terminus sequence that is widely expressed in the brain. The shorter variant was reported to be irresponsive to hypoxia-a condition attributed to ischemia, which has put the neuroprotective role of hTREK-1 channel into question. Since interaction between N- and C-terminus of different ion channels shapes their gating, we re-examined the sensitivity of the full-length as well as the shorter hTREK-1 channel to intracellular hypoxia along with lactate. Single-channel data obtained from the excised inside-out patches of the full-length channel expressed in HEK293 cells indicated an increase in activity as opposed to a decrease in activity in the shorter isoform. However, both the isoforms showed an increase in activity under combined hypoxia, 20mM lactate, and low pH 6 condition, albeit with subtle differences in their individual actions, confirming the neuroprotective role played by hTREK-1 irrespective of the differences in the N-terminus among the splice variants. Furthermore, E321A mutant that disrupts the interaction of the C-terminus with the membrane showed a decrease in activity with hypoxia indicating the importance of the C-terminus in the hypoxic response of the full-length hTREK-1. We propose an increase in activity of both the splice variants of hTREK-1 in combined hypoxia, high lactate, and low pH conditions typically associated with ischemia provides neuroprotection.
C1 [Mukherjee, Sourajit; Sikdar, Sujit Kumar] Indian Inst Sci, Mol Biophys Unit, Bangalore 560012, Karnataka, India.
C3 Indian Institute of Science (IISC) - Bangalore
RP Sikdar, SK (corresponding author), Indian Inst Sci, Mol Biophys Unit, Bangalore 560012, Karnataka, India.
EM sks@iisc.ac.in
RI Mukherjee, Ph.D., Sourajit/IUM-4226-2023
OI Mukherjee, Ph.D., Sourajit/0000-0002-6561-6557; Sikdar,
   Sujit/0000-0001-9161-5868
FU Department of Biotechnology, Ministry of Science and Technology,
   DBT-IISc Partnership Program for Advanced Research in Biological
   Sciences and Bioengineering; Department of Science and Technology
   (DST)-Innovation in Science Pursuit for Inspired Research (INSPIRE)
   fellowship
FX The research was funded by the Department of Biotechnology, Ministry of
   Science and Technology, DBT-IISc Partnership Program for Advanced
   Research in Biological Sciences and Bioengineering. This work was also
   supported by Department of Science and Technology (DST)-Innovation in
   Science Pursuit for Inspired Research (INSPIRE) fellowship to S.M.
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NR 84
TC 3
Z9 4
U1 0
U2 3
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 0031-6768
EI 1432-2013
J9 PFLUG ARCH EUR J PHY
JI Pflugers Arch.
PD FEB
PY 2021
VL 473
IS 2
BP 167
EP 183
DI 10.1007/s00424-020-02471-5
EA OCT 2020
PG 17
WC Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology
GA PX7VK
UT WOS:000575768000001
PM 33025137
DA 2025-04-10
ER

PT J
AU Cunha, SR
   Mohler, PJ
AF Cunha, Shane R.
   Mohler, Peter J.
TI Ankyrin protein networks in membrane formation and stabilization
SO JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
LA English
DT Review
DE ankyrin; beta-spectrin; obscurin; L1-CAM; cardiomyocyte; axon initial
   segment; node of Ranvier
ID AXON INITIAL SEGMENTS; ALTERNATIVELY SPLICED FORMS; TIBIAL
   MUSCULAR-DYSTROPHY; HUMAN-ERYTHROCYTE ANKYRIN; GENOME-WIDE ASSOCIATION;
   CELL-ADHESION MOLECULES; HEREDITARY ELLIPTOCYTOSIS;
   SARCOPLASMIC-RETICULUM; ISOFORM SPECIFICITY; EPITHELIAL ANKYRIN
AB Introduction
   Ankyrin
   Ankyrin functional domains
   Ankyrin genes, alternative splicing and the diversity of ankyrin polypeptides
   Mechanisms that target and stabilize ankyrin
   beta-spectrin
   L1-cell adhesion molecules
   Obscurin
   Ankyrins and disease
   Ankyrin-R
   Ankyrin-G
   Ankyrin-B
   Conclusion
   In eukaryotic cells, ankyrins serve as adaptor proteins that link membrane proteins to the underlying cytoskeleton. These adaptor proteins form protein complexes consisting of integral membrane proteins, signalling molecules and cytoskeletal components. With their modular architecture and ability to interact with many proteins, ankyrins organize and stabilize these protein networks, thereby establishing the infrastructure of membrane domains with specialized functions. To this end, ankyrin collaborates with a number of proteins including cytoskeletal proteins, cell adhesion molecules and large structural proteins. This review addresses the targeting and stabilization of protein networks related to ankyrin interactions with the cytoskeletal protein beta-spectrin, L1-cell adhesion molecules and the large myofibrillar protein obscurin. The significance of these interactions for differential targeting of cardiac proteins and neuronal membrane formation is also presented. Finally, this review concludes with a discussion about ankyrin dysfunction in human diseases such as haemolytic anaemia, cardiac arrhythmia and neurological disorders.
C1 [Cunha, Shane R.; Mohler, Peter J.] Univ Iowa, Carver Coll Med, Dept Internal Med, Iowa City, IA 52242 USA.
   [Mohler, Peter J.] Univ Iowa, Carver Coll Med, Dept Mol Physiol & Biophys, Iowa City, IA 52242 USA.
C3 University of Iowa; University of Iowa
RP Cunha, SR (corresponding author), Univ Iowa, Carver Coll Med, Dept Internal Med, 285 Newton Rd,CBRB 2283, Iowa City, IA 52242 USA.
EM shane-cunha@uiowa.edu
FU NIH [HL084583, HL083422, HL092232]; Pew Scholars Trust
FX We acknowledge financial support from the NIH (HL084583 and HL083422 to
   P. J. M.; HL092232 to S. R. C.) and the Pew Scholars Trust (P. J. M.).
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NR 135
TC 97
Z9 104
U1 0
U2 24
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1582-1838
EI 1582-4934
J9 J CELL MOL MED
JI J. Cell. Mol. Med.
PD NOV-DEC
PY 2009
VL 13
IS 11-12
BP 4364
EP 4376
DI 10.1111/j.1582-4934.2009.00943.x
PG 13
WC Cell Biology; Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Research & Experimental Medicine
GA 564IJ
UT WOS:000275206200009
PM 19840192
OA hybrid, Green Published
DA 2025-04-10
ER

PT J
AU MacFarland, SM
   Jin, JP
   Brozovich, FV
AF MacFarland, SM
   Jin, JP
   Brozovich, FV
TI Troponin T isoforms modulate calcium dependence of the kinetics of the
   cross-bridge cycle: studies using a transgenic mouse line
SO ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
LA English
DT Article
DE cardiac muscle; skeletal muscle; velocity of shortening; force
   redevelopment; kinetics
ID COMPLETE NUCLEOTIDE-SEQUENCE; SLOW SKELETAL; CARDIAC-MUSCLE;
   HYPERTROPHIC CARDIOMYOPATHY; STRUCTURAL ORGANIZATION; FORCE
   REDEVELOPMENT; ADULT ISOFORMS; SINGLE GENE; CONTRACTION; ACTIVATION
AB Alternative splicing of troponin T (TnT) in striated muscle during development results in expression of different isoforms, with the splicing of a 5' exon of TnT resulting in the expression of low-molecular-weight basic adult TnT isoforms and high-molecular-weight acidic embryonic TnT isoforms. Although other differences exist, the main differences between cardiac TnT (cTnT) and fast skeletal muscle TnT (fTnT) are in the NH2 terminus, with fTnT being less acidic than cTnT, A transgenic mouse line expressing chicken fTnT in the heart was used to investigate the functional significance of TnT NH2-terminal charge differences on cardiac muscle contractility. The rates of force redevelopment (k(tr)) at four levels of Ca2+ activation were recorded for skinned left ventricular trabeculae from control and transgenic mice. The k(tr) vs Ca2+ relationship was different in control mice and transgenic mice, suggesting that the structure of TnT, and possibly the NH2-terminal region, is involved in determining the kinetics of cross-bridge cycle. These results suggest that isoform shifts in TnT may be an important molecular mechanism for determining the Ca2+ dependence of cardiac muscle contractility. (C) 2002 Elsevier Science (USA). All rights reserved.
C1 Case Western Reserve Univ, Dept Phys & Biophys, Cleveland, OH 44106 USA.
   Case Western Reserve Univ, Dept Med Cardiol, Cleveland, OH 44106 USA.
C3 University System of Ohio; Case Western Reserve University; University
   System of Ohio; Case Western Reserve University
RP Brozovich, FV (corresponding author), Case Western Reserve Univ, Dept Phys & Biophys, Cleveland, OH 44106 USA.
RI Jin, Jinpu/ISB-6224-2023
OI Lytle, Sarah/0009-0004-3642-4291; Jin, JP/0000-0001-9932-1063
FU NHLBI NIH HHS [HL44181] Funding Source: Medline
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NR 41
TC 16
Z9 19
U1 0
U2 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0003-9861
J9 ARCH BIOCHEM BIOPHYS
JI Arch. Biochem. Biophys.
PD SEP 15
PY 2002
VL 405
IS 2
BP 241
EP 246
AR PII S0003-9861(02)00370-3
DI 10.1016/S0003-9861(02)00370-3
PG 6
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 598NV
UT WOS:000178283500013
PM 12220538
DA 2025-04-10
ER

PT J
AU Kondrychyn, I
   Robra, L
   Thirumalai, V
AF Kondrychyn, Igor
   Robra, Lena
   Thirumalai, Vatsala
TI Transcriptional Complexity and Distinct Expression Patterns of
   auts2 Paralogs in Danio rerio
SO G3-GENES GENOMES GENETICS
LA English
DT Article
DE alternative promoters; alternative splicing; auts2; fbrsl1; fbrs
ID GENOME-WIDE ASSOCIATION; CORONARY-ARTERY-DISEASE; ADULT ZEBRAFISH BRAIN;
   ALTERNATIVE PROMOTERS; SUSCEPTIBILITY GENE; HEROIN DEPENDENCE; MAMMALIAN
   GENOMES; EVOLUTION; DUPLICATION; DIVERSIFICATION
AB Several genes that have been implicated in autism spectrum disorders (ASDs) have multiple transcripts. Therefore, comprehensive transcript annotation is critical for determining the respective gene function. The autism susceptibility candidate 2 (AUTS2) gene is associated with various neurological disorders, including autism and brain malformation. AUTS2 is important for activation of transcription of neural specific genes, neuronal migration, and neurite outgrowth. Here, we present evidence for significant transcriptional complexity in the auts2 gene locus in the zebrafish genome, as well as in genomic loci of auts2 paralogous genes fbrsl1 and fbrs. Several genes that have been implicated in ASDs are large and have multiple transcripts. Neurons are especially enriched with longer transcripts compared to nonneural cell types. The human autism susceptibility candidate 2 (AUTS2) gene is similar to 1.2 Mb long and is implicated in a number of neurological disorders including autism, intellectual disability, addiction, and developmental delay. Recent studies show AUTS2 to be important for activation of transcription of neural specific genes, neuronal migration, and neurite outgrowth. However, much remains to be understood regarding the transcriptional complexity and the functional roles of AUTS2 in neurodevelopment. Zebrafish provide an excellent model system for studying both these questions. We undertook genomic identification and characterization of auts2 and its paralogous genes in zebrafish. There are four auts2 family genes in zebrafish: auts2a, auts2b, fbrsl1, and fbrs. The absence of complete annotation of their structures hampers functional studies. We present evidence for transcriptional complexity of these four genes mediated by alternative splicing and alternative promoter usage. Furthermore, the expression of the various paralogs is tightly regulated both spatially and developmentally. Our findings suggest that auts2 paralogs serve distinct functions in the development and functioning of target tissues.
C1 [Kondrychyn, Igor; Robra, Lena; Thirumalai, Vatsala] Tata Inst Fundamental Res, Natl Ctr Biol Sci, Bellary Rd, Bangalore 560065, Karnataka, India.
   [Kondrychyn, Igor] RIKEN, Ctr Dev Biol, Kobe, Hyogo 6500047, Japan.
C3 Tata Institute of Fundamental Research (TIFR); National Centre for
   Biological Sciences (NCBS); RIKEN
RP Thirumalai, V (corresponding author), Tata Inst Fundamental Res, Natl Ctr Biol Sci, Bellary Rd, Bangalore 560065, Karnataka, India.
EM vatsala@ncbs.res.in
RI ; Kondrychyn, Igor/C-2621-2016
OI Robra, Lena/0000-0003-3510-9228; Kondrychyn, Igor/0000-0002-2268-7291;
   Thirumalai, Vatsala/0000-0002-2318-5023
FU Wellcome Trust-DBT (Department of Biotechnology) India Alliance
   Intermediate Fellowship; DBT research grant; NCBS Career Development
   Fellowship; NCBS graduate student fellowship; NCBS-TIFR
FX We thank the National Centre of Biological Sciences (NCBS) DNA
   sequencing facility for the sequencing and Manjunath for maintaining the
   fish facility. This work was supported by a Wellcome Trust-DBT
   (Department of Biotechnology) India Alliance Intermediate Fellowship and
   a DBT research grant (awarded to V.T.), a NCBS Career Development
   Fellowship (awarded to I.K.), and an NCBS graduate student fellowship
   (L.R.). Additional funding was received from NCBS-TIFR core research
   support (V.T.). The authors declare no competing financial interests.
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NR 53
TC 12
Z9 13
U1 0
U2 8
PU GENETICS SOCIETY AMERICA
PI BETHESDA
PA 9650 ROCKVILLE AVE, BETHESDA, MD 20814 USA
SN 2160-1836
J9 G3-GENES GENOM GENET
JI G3-Genes Genomes Genet.
PD AUG
PY 2017
VL 7
IS 8
BP 2577
EP 2593
DI 10.1534/g3.117.042622
PG 17
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA FD1RI
UT WOS:000407314000015
PM 28626003
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Roelofs, RF
   Fischer, DF
   Houtman, SH
   Sluijs, JA
   Van Haren, W
   Van Leeuwen, FW
   Hol, EM
AF Roelofs, RF
   Fischer, DF
   Houtman, SH
   Sluijs, JA
   Van Haren, W
   Van Leeuwen, FW
   Hol, EM
TI Adult human subventricular, subgranular, and subpial zones contain
   astrocytes with a specialized intermediate filament cytoskeleton
SO GLIA
LA English
DT Article
DE splicing; ependyma; astrocytic stem cells; Alzheimer; multiple sclerosis
   intermediate filament cytoskeleton; astrogliosis
AB Human glial fibrillary acidic protein-delta (GFAP-delta) is a GFAP protein isoform that is encoded by an alternative splice variant of the GFAP-gene. As a result, GFAP-delta protein differs from the predominant splice form, GFAP-alpha, by its C-terminal protein sequence. In this study, we show that GFAP-delta protein is not expressed by all GFAP-expressing astrocytes but specifically by a subpopulation located in the subpial zone of the cerebral cortex, the subgranular zone of the hippocampus, and, most intensely, by a ribbon of astrocytes following the ependymal layer of the cerebral ventricles. Therefore, at least in the sub ventricular zone (SVZ), GFAP-delta specifically marks the population of astrocytes that contain the neural stem cells in the adult human brain. Interestingly, the SVZ astrocytes actively splice GFAP-delta transcripts, in contrast to astrocytes adjacent to this layer. Furthermore, we show that GFAP-delta protein, unlike GFAP-alpha, is not upregulated in astrogliosis. Our data therefore indicate a different functional role for GFAP-delta in astrocyte physiology. Finally, transfection studies showed that GFAP-delta protein expression has a negative effect on GFAP filament formation, and therefore could be important for modulating intermediate filament cytoskeletal properties, possibly facilitating astrocyte motility. Further studies on GFA-P-6 and the cells that express it are important for gaining insights into its function during differentiation, migration and during health and disease. (c) 2005 Wiley-Liss, Inc.
C1 Netherlands Inst Brain Res, Grad Sch Neurosci, NL-1105 AZ Amsterdam, Netherlands.
C3 Royal Netherlands Academy of Arts & Sciences; Netherlands Institute for
   Neuroscience (NIN-KNAW)
RP Netherlands Inst Brain Res, Grad Sch Neurosci, Meibergdreef 33, NL-1105 AZ Amsterdam, Netherlands.
EM e.hol@nih.knaw.nl
RI Hol, Elly/J-2025-2019; Hol, Elly/F-1891-2013
OI Reitsma-Houtman, Simone Hendrika/0000-0003-4386-5728; Fischer,
   David/0000-0002-6690-0197; Hol, Elly/0000-0001-5604-2603
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NR 43
TC 138
Z9 150
U1 0
U2 10
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0894-1491
EI 1098-1136
J9 GLIA
JI Glia
PD DEC
PY 2005
VL 52
IS 4
BP 289
EP 300
DI 10.1002/glia.20243
PG 12
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 981AW
UT WOS:000233060400003
PM 16001427
DA 2025-04-10
ER

PT J
AU Porensky, PN
   Mitrpant, C
   McGovern, VL
   Bevan, AK
   Foust, KD
   Kaspar, BK
   Wilton, SD
   Burghes, AHM
AF Porensky, Paul N.
   Mitrpant, Chalermchai
   McGovern, Vicki L.
   Bevan, Adam K.
   Foust, Kevin D.
   Kaspar, Brain K.
   Wilton, Stephen D.
   Burghes, Arthur H. M.
TI A single administration of morpholino antisense oligomer rescues spinal
   muscular atrophy in mouse
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID SURVIVAL MOTOR-NEURON; INCREASES SMN EXPRESSION; DETERMINING
   GENE-PRODUCT; MESSENGER-RNA; MISSENSE MUTATION; CARDIAC DEFECTS; MODEL;
   PHENOTYPE; PROTEIN; EXON
AB Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by -motor neuron loss in the spinal cord anterior horn. SMA results from deletion or mutation of the Survival Motor Neuron 1 gene (SMN1) and retention of SMN2. A single nucleotide difference between SMN1 and SMN2 results in exclusion of exon 7 from the majority of SMN2 transcripts, leading to decreased SMN protein levels and development of SMA. A series of splice enhancers and silencers regulate incorporation of SMN2 exon 7; these splice motifs can be blocked with antisense oligomers (ASOs) to alter SMN2 transcript splicing. We have evaluated a morpholino (MO) oligomer against ISS-N1 [HSMN2Ex7D(10,29)], and delivered this MO to postnatal day 0 (P0) SMA pups (Smn/, SMN2/, SMN7/) by intracerebroventricular (ICV) injection. Survival was increased markedly from 15 days to 100 days. Delayed CNS MO injection has moderate efficacy, and delayed peripheral injection has mild survival advantage, suggesting that early CNS ASO administration is essential for SMA therapy consideration. ICV treatment increased full-length SMN2 transcript as well as SMN protein in neural tissue, but only minimally in peripheral tissue. Interval analysis shows a decrease in alternative splice modification over time. We suggest that CNS increases of SMN will have a major impact on SMA, and an early increase of the SMN level results in correction of motor phenotypes. Finally, the early introduction by intrathecal delivery of MO oligomers is a potential treatment for SMA patients.
C1 [Porensky, Paul N.; McGovern, Vicki L.; Burghes, Arthur H. M.] Ohio State Univ, Dept Mol & Cellular Biochem, Columbus, OH 43210 USA.
   [Porensky, Paul N.] Ohio State Univ, Dept Neurol Surg, Med Ctr, Columbus, OH 43210 USA.
   [Mitrpant, Chalermchai; Wilton, Stephen D.] Univ Western Australia, Ctr Neuromuscular & Neurol Disorders, Perth, WA 6009, Australia.
   [Bevan, Adam K.; Foust, Kevin D.; Kaspar, Brain K.] Nationwide Childrens Hosp, Res Inst, Deparment Gene Therapy, Columbus, OH 43205 USA.
C3 University System of Ohio; Ohio State University; University System of
   Ohio; Ohio State University; University of Western Australia; University
   System of Ohio; Ohio State University; Nationwide Childrens Hospital;
   Research Institute at Nationwide Children's Hospital
RP Porensky, PN (corresponding author), Ohio State Univ, Dept Mol & Cellular Biochem, 363 Hamilton Halls,1645 Neil Ave, Columbus, OH 43210 USA.
EM paul.porensky@osumc.edu; burghes.1@osu.edu
RI Burghes, Arthur/LTC-9615-2024; Kaspar, Brian/E-3349-2011; Mitrpant,
   Chalermchai/AAX-6699-2021
OI McGovern, Vicki/0000-0003-3979-9596; Burghes,
   Arthur/0000-0001-9031-1555; Mitrpant, Chalermchai/0000-0001-9311-7977;
   Wilton, Steve/0000-0002-9400-893X
FU National Institutes of Health [R01 HD060586, RC2 NS069476]; Ohio State
   University Department of Neurological Surgery; AFM/SMA Europe; Spinal
   Muscular Atrophy Association of Australia; Parry Foundation of Australia
FX This work was supported by the National Institutes of Health R01
   HD060586 (A.H.M.B.) and RC2 NS069476 (A.H.M.B.); The Ohio State
   University Department of Neurological Surgery (P.N.P.); AFM/SMA Europe
   (S.W.), the Spinal Muscular Atrophy Association of Australia (S.W.) and
   the Parry Foundation of Australia (S.W.).
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NR 81
TC 211
Z9 243
U1 1
U2 18
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD APR 1
PY 2012
VL 21
IS 7
BP 1625
EP 1638
DI 10.1093/hmg/ddr600
PG 14
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 905UC
UT WOS:000301299700016
PM 22186025
OA Green Published
DA 2025-04-10
ER

PT J
AU Jackson, TC
   Kochanek, PM
AF Jackson, Travis C.
   Kochanek, Patrick M.
TI RNA Binding Motif 5 (RBM5) in the CNS-Moving Beyond Cancer to Harness
   RNA Splicing to Mitigate the Consequences of Brain Injury
SO FRONTIERS IN MOLECULAR NEUROSCIENCE
LA English
DT Review
DE RBM5; brain; alternative splicing; neuronal death; gene expression;
   RNA-binding protein; traumatic brain injury; cerebral ischemia
ID PRE-MESSENGER-RNA; CANDIDATE TUMOR-SUPPRESSOR; CELL-CYCLE ARREST;
   IN-VITRO; TISSUE TRANSGLUTAMINASE; GENE-EXPRESSION; SMALL MOLECULES;
   SPINAL-CORD; RAT; PROTEINS
AB Gene splicing modulates the potency of cell death effectors, alters neuropathological disease processes, influences neuronal recovery, but may also direct distinct mechanisms of secondary brain injury. Therapeutic targeting of RNA splicing is a promising avenue for next-generation CNS treatments. RNA-binding proteins (RBPs) regulate a variety of RNA species and are prime candidates in the hunt for druggable targets to manipulate and tailor gene-splicing responses in the brain. RBPs preferentially recognize unique consensus sequences in targeted mRNAs. Also, RBPs often contain multiple RNA-binding domains (RBDs)-each having a unique consensus sequence-suggesting the possibility that drugs could be developed to block individual functional domains, increasing the precision of RBP-targeting therapies. Empirical characterization of most RBPs is lacking and represents a major barrier to advance this emerging therapeutic area. There is a paucity of data on the role of RBPs in the brain including, identification of their unique mRNA targets, defining how CNS insults affect their levels and elucidating which RBPs (and individual domains within) to target to improve neurological outcomes. This review focuses on the state-of-the-art of the RBP tumor suppressorRNA binding motif 5(RBM5) in the CNS. We discuss its potent pro-death roles in cancer, which motivated our interest to study it in the brain. We review recent studies showing that RBM5 levels are increased after CNS trauma and that it promotes neuronal deathin vitro. Finally, we conclude with recent reports on the first set of RBM5 regulated genes identified in the intact brain, and discuss how those findings provide new clues germane to its potential function(s) in the CNS, and pose new questions on its therapeutic utility to mitigate CNS injury.
C1 [Jackson, Travis C.] Univ S Florida, Morsani Coll Med, USF Hlth Heart Inst, Tampa, FL 33620 USA.
   [Jackson, Travis C.] Univ S Florida, Morsani Coll Med, Dept Mol Pharmacol & Physiol, Tampa, FL 33620 USA.
   [Kochanek, Patrick M.] Univ Pittsburgh, Sch Med, Safar Ctr Resuscitat Res, Dept Crit Care Med, Pittsburgh, PA USA.
C3 State University System of Florida; University of South Florida; State
   University System of Florida; University of South Florida; Pennsylvania
   Commonwealth System of Higher Education (PCSHE); University of
   Pittsburgh
RP Jackson, TC (corresponding author), Univ S Florida, Morsani Coll Med, USF Hlth Heart Inst, Tampa, FL 33620 USA.; Jackson, TC (corresponding author), Univ S Florida, Morsani Coll Med, Dept Mol Pharmacol & Physiol, Tampa, FL 33620 USA.
EM tcjackson@usf.edu
RI Kochanek, Patrick/D-2371-2015; Jackson, Travis/JEZ-5995-2023
FU NIH/NINDS [R01NS105721]; University of South Florida Morsani College of
   Medicine start-up funds; Ake N. Grenvik Chair in Critical Care Medicine
FX This work was supported by NIH/NINDS grant R01NS105721 to TJ, by the
   University of South Florida Morsani College of Medicine start-up funds
   to TJ, and by the Ake N. Grenvik Chair in Critical Care Medicine to PK.
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NR 98
TC 14
Z9 17
U1 0
U2 2
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1662-5099
J9 FRONT MOL NEUROSCI
JI Front. Molec. Neurosci.
PD JUL 15
PY 2020
VL 13
AR 126
DI 10.3389/fnmol.2020.00126
PG 14
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA MV6CK
UT WOS:000556443300001
PM 32765218
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Bajpai, P
   Srinivasan, S
   Ghosh, J
   Nagy, LD
   Wei, SZ
   Guengerich, FP
   Avadhani, NG
AF Bajpai, Prachi
   Srinivasan, Satish
   Ghosh, Jyotirmoy
   Nagy, Leslie D.
   Wei, Shouzou
   Guengerich, F. Peter
   Avadhani, Narayan G.
TI Targeting of Splice Variants of Human Cytochrome P450 2C8 (CYP2C8) to
   Mitochondria and Their Role in Arachidonic Acid Metabolism and
   Respiratory Dysfunction
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
DE Alternative Splicing; Arachidonic Acid (AA) (ARA); Cytochrome P450;
   Mitochondrial Respiratory Chain Complex; Mitochondrial Transport;
   Oxidative Stress; Splice Variant
ID ENDOPLASMIC-RETICULUM; MICROSOMAL CYTOCHROME-P450; EPOXYEICOSATRIENOIC
   ACIDS; MEDIATED PHOSPHORYLATION; LIVER-MICROSOMES; EXPRESSION;
   ACTIVATION; BINDING; PROTEIN; INHIBITORS
AB Background: Human CYP2C8 is involved in the metabolism of >20% of drugs on the market. Results: Both full-length (WT) CYP2C8 and splice variant 3 are bimodally targeted to mitochondria. Conclusion: Mitochondrial CYP2C8 metabolizes paclitaxel and arachidonic acid (-hydroxylation). Significance: Mitochondrial CYP2C8 is likely to play role in ischemic injury and oxidative stress.
   In this study, we found that the full-length CYP2C8 (WT CYP2C8) and N-terminal truncated splice variant 3 (approximate to 44-kDa mass) are localized in mitochondria in addition to the endoplasmic reticulum. Analysis of human livers showed that the mitochondrial levels of these two forms varied markedly. Molecular modeling based on the x-ray crystal structure coordinates of CYP2D6 and CYP2C8 showed that despite lacking the N-terminal 102 residues variant 3 possessed nearly complete substrate binding and heme binding pockets. Stable expression of cDNAs in HepG2 cells showed that the WT protein is mostly targeted to the endoplasmic reticulum and at low levels to mitochondria, whereas variant 3 is primarily targeted to mitochondria and at low levels to the endoplasmic reticulum. Enzyme reconstitution experiments showed that both microsomal and mitochondrial WT CYP2C8 efficiently catalyzed paclitaxel 6-hydroxylation. However, mitochondrial variant 3 was unable to catalyze this reaction possibly because of its inability to stabilize the large 854-Da substrate. Conversely, mitochondrial variant 3 catalyzed the metabolism of arachidonic acid into 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acids and 20-hydroxyeicosatetraenoic acid when reconstituted with adrenodoxin and adrenodoxin reductase. HepG2 cells stably expressing variant 3 generated higher levels of reactive oxygen species and showed a higher level of mitochondrial respiratory dysfunction. This study suggests that mitochondrially targeted variant 3 CYP2C8 may contribute to oxidative stress in various tissues.
C1 [Bajpai, Prachi; Srinivasan, Satish; Ghosh, Jyotirmoy; Avadhani, Narayan G.] Univ Penn, Sch Vet Med, Dept Anim Biol, Philadelphia, PA 19104 USA.
   [Bajpai, Prachi; Srinivasan, Satish; Ghosh, Jyotirmoy; Avadhani, Narayan G.] Univ Penn, Sch Vet Med, Mari Lowe Ctr Comparat Oncol, Philadelphia, PA 19104 USA.
   [Nagy, Leslie D.; Wei, Shouzou; Guengerich, F. Peter] Vanderbilt Univ, Sch Med, Dept Biochem, Nashville, TN 37232 USA.
   [Nagy, Leslie D.; Wei, Shouzou; Guengerich, F. Peter] Vanderbilt Univ, Sch Med, Ctr Mol Toxicol, Nashville, TN 37232 USA.
C3 University of Pennsylvania; University of Pennsylvania; Vanderbilt
   University; Vanderbilt University
RP Avadhani, NG (corresponding author), Univ Penn, Sch Vet Med, Dept Anim Biol, Philadelphia, PA 19104 USA.
EM Narayan@vet.upenn.edu
RI Bajpai, Prachi/U-7462-2018
FU National Institutes of Health [R01 GM34883, R37 CA090426, P01 DK038226];
   Harriet Ellison Woodward Endowment
FX This work was supported, in whole or in part, by National Institutes of
   Health Grants R01 GM34883 (to N. G. A.) and R37 CA090426 and P01
   DK038226 (to F. P. G.). This work was also supported by the Harriet
   Ellison Woodward Endowment (to N. G. A.).
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NR 58
TC 11
Z9 12
U1 1
U2 7
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD OCT 24
PY 2014
VL 289
IS 43
BP 29614
EP 29630
DI 10.1074/jbc.M114.583062
PG 17
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA AS6JU
UT WOS:000344370800012
PM 25160618
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Zhou, JH
   Zhao, SW
   Dunker, AK
AF Zhou, Jianhong
   Zhao, Suwen
   Dunker, A. Keith
TI Intrinsically Disordered Proteins Link Alternative Splicing and
   Post-translational Modifications to Complex Cell Signaling and
   Regulation
SO JOURNAL OF MOLECULAR BIOLOGY
LA English
DT Article
DE intrinsic disorder; alternative splicing; post-translational
   modification; differential and context-dependent signaling; signaling
   modulation and regulation
ID TRANSCRIPTION FACTOR NFAT1; THROMBOXANE A(2) RECEPTOR; SRC FAMILY;
   COUPLED RECEPTORS; FUNCTIONAL ANTHOLOGY; POLYVALENT LIGAND;
   PLASMA-MEMBRANE; NITRIC-OXIDE; GENE FAMILY; DNA-BINDING
AB Intrinsically disordered proteins and regions (IDPs and IDRs) lack well-defined tertiary structures, yet carry out various important cellular functions, especially those associated with cell signaling and regulation. In eukaryotes, IDPs and IDRs contain the preferred loci for both alternative splicing (AS) and many post-translational modifications (PTMs). Furthermore, AS and/or PTMs at these loci generally alter the signaling outcomes associated with these IDPs or IDRs, where the functional cooperation of these three features is named the IDP-AS-PTM toolkit. However, the prevalence of such functional modulations remains unknown. Also, the signal-altering mechanisms by which AS, and PTMs modulate function and the extent to which AS and PTMs collaborate in their signaling modulations have not been well defined for particular protein examples. Here we focus on three important signaling and regulatory IDR-containing protein families in humans, namely, G protein-coupled receptors (GPCRs), which are transmembrane proteins; the nuclear factors of activated T cells (NFATs), which are transcription factors; and the Src family kinases (SFKs), which are signaling enzymes. The goals here are to determine how AS and PTMs individually alter the outcomes of the signaling carried out by the various IDRs and to determine whether AS and PTMs work together to bring about differential cellular responses. We also present data indicating that a wide range of other signaling IDPs or IDRs undergo both AS- and PTM-based modifications, suggesting that they, too, likely take advantage of signal outcome modulations that result from collaboration between these two events. Hence, we propose that the widespread cooperation of IDPs, AS and/or PTMs provides an IDP-AS-PTM toolkit and substantially contributes to the vast complexity of eukaryotic cell signaling systems. (C) 2018 Elsevier Ltd. All rights reserved.
C1 [Zhou, Jianhong; Zhao, Suwen] ShanghaiTech Univ, iHuman Inst, 393 Huaxia Middle Rd, Shanghai 201210, Peoples R China.
   [Zhao, Suwen] ShanghaiTech Univ, Sch Life Sci & Technol, 393 Huaxia Middle Rd, Shanghai 201210, Peoples R China.
   [Dunker, A. Keith] Indiana Univ Sch Med, Dept Biochem & Mol Biol, Ctr Computat Biol & Bioinformat, 410 W 10th St,Suite 5000, Indianapolis, IN 46202 USA.
C3 ShanghaiTech University; ShanghaiTech University; Indiana University
   System; Indiana University Bloomington
RP Zhao, SW (corresponding author), ShanghaiTech Univ, iHuman Inst, 393 Huaxia Middle Rd, Shanghai 201210, Peoples R China.; Zhao, SW (corresponding author), ShanghaiTech Univ, Sch Life Sci & Technol, 393 Huaxia Middle Rd, Shanghai 201210, Peoples R China.; Dunker, AK (corresponding author), Indiana Univ Sch Med, Dept Biochem & Mol Biol, Ctr Computat Biol & Bioinformat, 410 W 10th St,Suite 5000, Indianapolis, IN 46202 USA.
EM zhaosw@shanghaitech.edu.cn; kedunker@iupui.edu
RI Ouyang, Weizhi/AAB-9307-2022
OI , Jianhong Zhou/0000-0002-9590-7339
FU Science and Technology Commission of Shanghai Municipality
   [16ZR1448500]; ShanghaiTech University
FX This work was supported by the Science and Technology Commission of
   Shanghai Municipality (Grant 16ZR1448500) and ShanghaiTech University.
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NR 157
TC 65
Z9 70
U1 0
U2 32
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0022-2836
EI 1089-8638
J9 J MOL BIOL
JI J. Mol. Biol.
PD AUG 3
PY 2018
VL 430
IS 16
SI SI
BP 2342
EP 2359
DI 10.1016/j.jmb.2018.03.028
PG 18
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA GN8ID
UT WOS:000439402200007
PM 29626537
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Solis, RS
   Ge, Y
   Walker, JW
AF Solis, Raquel Sancho
   Ge, Ying
   Walker, Jeffery W.
TI Single amino acid sequence polymorphisms in rat cardiac troponin
   revealed by top-down tandem mass spectrometry
SO JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
LA English
DT Review
DE Phosphorylation; Alternative splicing; Proteomics; Post-translational
   modification; Electron capture dissociation
ID PROTEIN-KINASE-C; ELECTRON-CAPTURE DISSOCIATION; MULTIPLY-CHARGED IONS;
   PHOSPHORYLATION; SITES; ISOFORMS; CA2+; IDENTIFICATION; DISEASE; MUSCLE
AB Heterotrimeric cardiac troponin (cTn) is a critical component of the thin filament regulatory complex in cardiac muscle. Two of the three subunits, cTnI and cTnT, are subject to post-translational modifications such as proteolysis and phosphorylation, but linking modification patterns to function remains a major challenge. To obtain a global view of the biochemical state of cTn in native tissue, we performed high resolution top-down mass spectrometry of cTn heterotrimers from healthy adult rat hearts. cTn heterotrimers were affinity purified, desalted and then directly subjected to mass spectrometry using a 7 Tesla Thermo LTQ-FT-ICR instrument equipped with an ESI source. Molecular ions for N-terminally processed and acetylated cTnI and cTnT were readily detected as were other post-translationally modified forms of these proteins. cTnI was phosphorylated with a distribution of un-, mono- and bisphosphorylated forms of 41 +/- A 3%, 46 +/- A 1%, 13 +/- A 3%, respectively. cTnT was predominantly monophosphorylated and partially proteolyzed at the Glu(29)-Pro(30) peptide bond. Also observed in high resolution spectra were 'shadow' peaks of similar intensity to 'parent' peaks exhibiting masses of cTnI+16 Da and cTnT+128 Da, subsequently shown by tandem mass spectrometry (MS/MS) to be single amino acid polymorphisms. Intact and protease-digested cTn subunits were fragmented by electron capture dissociation or collision activated dissociation to localize an Ala/Ser polymorphism at residue 7 of cTnI. Similar analysis of cTnT localized an additional Gln within a three residue alternative splice site beginning at residue 192. Besides being able to provide unique insights into the global state of post-translational modification of cTn subunits, high resolution top-down mass spectrometry readily revealed naturally occurring single amino acid sequence variants including a genetic polymorphism at residue 7 in cTnI, and an alternative splice isoform that affects a putative hinge region around residue 192 of cTnT, all of which co-exist within a single rat heart.
C1 [Walker, Jeffery W.] Univ Arizona, Coll Med, Arizona Diabet Program, Mol Cardiovasc Res Program, Tucson, AZ 85724 USA.
   [Solis, Raquel Sancho; Ge, Ying; Walker, Jeffery W.] Univ Wisconsin, Dept Philosophy, Madison, WI 53706 USA.
   [Ge, Ying] Univ Wisconsin, Human Prote Program, Madison, WI 53706 USA.
   [Walker, Jeffery W.] Univ Arizona, Dept Physiol, Tucson, AZ 85724 USA.
C3 University of Arizona; University of Wisconsin System; University of
   Wisconsin Madison; University of Wisconsin System; University of
   Wisconsin Madison; University of Arizona
RP Walker, JW (corresponding author), Univ Arizona, Coll Med, Arizona Diabet Program, Mol Cardiovasc Res Program, MRB 411,1656 E Mabel Ave, Tucson, AZ 85724 USA.
EM jwwalker@arizona.edu
RI Solís, Raquel/IAN-6453-2023
FU American Heart Association Scientist Development; NIH [RO1 HL081386]
FX The authors thank Dr. Andrew Messer and Professor Steven Marston for
   invaluable assistance with methods for affinity purification of troponin
   and for many helpful discussions. The authors also thank Christopher
   Doede, Jennifer Wachholz and Lisa Xu for expert technical assistance
   during early stages of the project. This work was supported by an
   American Heart Association Scientist Development Grant (YG), the
   Wisconsin Partnership for a Healthy Future, and NIH grant RO1 HL081386
   (JWW).
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NR 33
TC 45
Z9 53
U1 0
U2 9
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0142-4319
EI 1573-2657
J9 J MUSCLE RES CELL M
JI J. Muscle Res. Cell Motil.
PD DEC
PY 2008
VL 29
IS 6-8
BP 203
EP 212
DI 10.1007/s10974-009-9168-y
PG 10
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 418VD
UT WOS:000264176600012
PM 19165611
OA Green Accepted, hybrid
DA 2025-04-10
ER

PT J
AU Perry, SV
AF Perry, SV
TI Troponin T: Genetics, properties and function
SO JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
LA English
DT Review
ID SKELETAL-MUSCLE TROPONIN; PROTEIN-KINASE-C; ACTOMYOSIN MGATPASE
   ACTIVITY; METAL-BINDING CLUSTER; CHICKEN BREAST MUSCLE; AMINO-ACID
   SEQUENCES; ALPHA-TROPOMYOSIN; STRIATED-MUSCLE; THIN FILAMENT;
   HYPERTROPHIC CARDIOMYOPATHY
AB Troponin T (TnT) is present in striated muscle of vertebrates and invertebrates as a group of homologous proteins with molecular weights usually in the 31-36 kDa range. It occupies a unique role in the regulatory protein system in that it interacts with TnC and TnI of the troponin complex and the proteins of the myofibrillar thin filament, tropomyosin and actin. In the myofibril the molecule is about 18 nm long and for much its length interacts with tropomyosin. The ability of TnT to form a complex with tropomyosin is responsible for locating the troponin complex with a periodicity of 38.5 nm along the thin filament of the myofibril. In addition to its structural role, TnT has the important function of transforming the TnI-TnC complex into a system, the inhibitory activity of which, on the tropomyosin-actomyosin MgATPase of the myofibril, becomes sensitive to calcium ions. Different genes control the expression of TnT in fast skeletal, slow skeletal and cardiac muscles. In all muscles, and particularly in fast skeletal, alternative splicing of mRNA produces a series of isoforms in a developmentally regulated manner. In consequence TnT exists in marry more isoforms than any of the other thin filament proteins, the TnT superfamily. Despite the general homology of TnT isoforms, this alternative splicing leads to variable regions close to the N- and C-termini. As the isoforms have lightly different effects on the calcium sensitivity of the actomyosin MgATPase, modulation of the contractile response to calcium can occur during development and in different muscle types. TnT has recently aroused clinical interest in its potential for detecting myocardial damage and the association of mutations in the cardiac isoform with hypertrophic cardiomyopathy. (C) Chapman & Hall Ltd.
C1 Univ Birmingham, Sch Med, Dept Physiol, Birmingham B15 2TT, W Midlands, England.
C3 University of Birmingham
RP Univ Birmingham, Sch Med, Dept Physiol, Birmingham B15 2TT, W Midlands, England.
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NR 195
TC 259
Z9 298
U1 0
U2 18
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0142-4319
EI 1573-2657
J9 J MUSCLE RES CELL M
JI J. Muscle Res. Cell Motil.
PD AUG
PY 1998
VL 19
IS 6
BP 575
EP 602
PG 28
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 113EE
UT WOS:000075536800001
PM 9742444
DA 2025-04-10
ER

PT J
AU Rui, YK
   Zhou, J
   Zhen, XY
   Zhang, JH
   Liu, SQ
   Gao, YZ
AF Rui, Yukun
   Zhou, Ju
   Zhen, Xiaoyuan
   Zhang, Jianhua
   Liu, Shiquan
   Gao, Yuzhen
TI TBX5 genetic variants and SCD-CAD susceptibility: insights from
   Chinese Han cohorts
SO PEERJ
LA English
DT Article
DE Sudden cardiac death; TBX5; rs11278315; Indel polymorphism; Genetic
   susceptibility
ID SUDDEN CARDIAC DEATH; HEART DEVELOPMENT; EXPRESSION; EPIDEMIOLOGY;
   DISEASE; POLYMORPHISM; EPICARDIUM; DATABASE; GATA4; RISK
AB Background. The prevention and prediction of sudden cardiac death (SCD) present persistent challenges, prompting exploration into common genetic variations for potential insights. T -box 5 (TBX5), a critical cardiac transcription factor, plays a pivotal role in cardiovascular development and function. This study systematically examined variants within the 500 -bp region downstream of the TBX5 gene, focusing on their potential impact on susceptibility to SCD associated with coronary artery disease (SCDCAD) in four different Chinese Han populations. Methods. In a comprehensive case -control analysis, we explored the association between rs11278315 and SCD-CAD susceptibility using a cohort of 553 controls and 201 SCD-CAD cases. Dual luciferase reporter assays and genotype -phenotype correlation studies using human cardiac tissue samples as well as integrated in silicon analysis were applied to explore the underlining mechanism. Result. Binary logistic regression results underscored a significantly reduced risk of SCD-CAD in individuals harboring the deletion allele (odds ratio = 0.70, 95% CI [0.55-0.88], p = 0.0019). Consistent with the lower transcriptional activity of the deletion allele observed in dual luciferase reporter assays, genotype -phenotype correlation studies on human cardiac tissue samples affirmed lower expression levels associated with the deletion allele at both mRNA and protein levels. Furthermore, our investigation revealed intriguing insights into the role of rs11278315 in TBX5 alternative splicing, which may contribute to alterations in its ultimate functional effects, as suggested by sQTL analysis. Gene ontology analysis and functional annotation further underscored the potential involvement of TBX5 in alternative splicing and cardiacrelated transcriptional regulation. Conclusions. In summary, our current dataset points to a plausible correlation between rs11278315 and susceptibility to SCD-CAD, emphasizing the potential of rs11278315 as a genetic risk marker for aiding in molecular diagnosis and risk stratification of SCD-CAD.
C1 [Rui, Yukun; Zhen, Xiaoyuan; Gao, Yuzhen] Soochow Univ, Med Coll, Dept Forens Med, Suzhou, Peoples R China.
   [Zhou, Ju] Soochow Univ, Med Coll, Suzhou, Peoples R China.
   [Zhang, Jianhua] Minist Justice, Inst Forens Sci, Shanghai Key Lab Forens Med, Shanghai, Peoples R China.
   [Liu, Shiquan] China Univ Polit Sci & Law, Inst Evidence Law & Forens Sci, Beijing, Peoples R China.
C3 Soochow University - China; Soochow University - China; Institute of
   Forensic Science Ministry of Justice PRC; China University of Political
   Science & Law
RP Gao, YZ (corresponding author), Soochow Univ, Med Coll, Dept Forens Med, Suzhou, Peoples R China.; Liu, SQ (corresponding author), China Univ Polit Sci & Law, Inst Evidence Law & Forens Sci, Beijing, Peoples R China.
EM shiquan.liu@cupl.edu.cn; yuzhengao@suda.edu.cn
FU Natural Science Foundation of China [82171874, 81772029]; Priority
   Academic Program Development of Jiangsu Higher Education Institutions
FX <B>Funding</B> This study was funded by Natural Science Foundation of
   China (Nos. 82171874 and 81772029) and Priority Academic Program
   Development of Jiangsu Higher Education Institutions. The funders had no
   role in study design, data collection and analysis, decision to publish,
   or preparation of the manuscript.
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WE Science Citation Index Expanded (SCI-EXPANDED)
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GA LT1O4
UT WOS:001188963300005
PM 38525280
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Breyer, RM
   Bagdassarian, CK
   Myers, SA
   Breyer, MD
AF Breyer, RM
   Bagdassarian, CK
   Myers, SA
   Breyer, MD
TI Prostanoid receptors: Subtypes and signaling
SO ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY
LA English
DT Review
DE prostaglandin; GPCR; G protein; mutagenesis; alternative splicing
ID PROSTAGLANDIN-E-RECEPTOR; THROMBOXANE A(2) RECEPTOR; HUMAN PROSTACYCLIN
   RECEPTOR; PROTEIN-COUPLED RECEPTORS; LIGAND-BINDING PROPERTIES; 7TH
   TRANSMEMBRANE DOMAIN; HIGHLY SELECTIVE AGONIST; 2ND EXTRACELLULAR LOOP;
   NORTHERN BLOT ANALYSIS; AMINO-ACID-RESIDUES
AB Cyclooxygenases metabolize arachidonate to five primary prostanoids: PGE(2), PGF(2 alpha), PGI(2), TxA(2), and PGD(2). These autacrine lipid mediators interact with specific members of a family of distinct G-protein-coupled prostanoid receptors, designated EP, FP, IP, TP, and DP, respectively. Each of these receptors has been cloned, expressed, and characterized. This family of eight prostanoid receptor complementary DNAs encodes seven transmembrane proteins which are typical of G-protein-coupled receptors and these receptors are distinguished by their ligand-binding profiles and the signal transduction pathways activated on ligand binding. Ligand-binding selectivity of these receptors is determined by both the transmembrane sequences and amino acid residues in the putative extracellular-loop regions. The selectivity of interaction between the receptors and G proteins appears to be mediated at least in part by the C-terminal tail region. Each of the EP1, EP3, FP, and TP receptors has alternative splice variants described that alter the coding sequence in the C-terminal intracellular tail region. The C-terminal variants modulate signal transduction, phosphorylation, and desensitization of these receptors, as well as altering agonist-independent constitutive activity.
C1 Vanderbilt Univ, Div Nephrol, Nashville, TN 37232 USA.
   Vanderbilt Univ, Dept Med, Nashville, TN 37232 USA.
   Vanderbilt Univ, Dept Pharmacol, Nashville, TN 37232 USA.
   Coll William & Mary, Dept Chem, Williamsburg, VA 23187 USA.
   Vanderbilt Univ, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA.
   Dept Vet Affairs Med Ctr, Nashville, TN 37232 USA.
C3 Vanderbilt University; Vanderbilt University; Vanderbilt University;
   William & Mary; Vanderbilt University; US Department of Veterans
   Affairs; Veterans Health Administration (VHA); VA Tennessee Valley
   Healthcare System
RP Breyer, RM (corresponding author), Vanderbilt Univ, Div Nephrol, 221 Kirkland Hall, Nashville, TN 37232 USA.
RI Breyer, Matthew/KMX-2559-2024
OI Breyer, Richard/0000-0001-5828-4403; Breyer, Matthew
   Douglas/0000-0003-1880-371X
FU NIDDK NIH HHS [DK46205, DK-37097] Funding Source: Medline; NIGMS NIH HHS
   [GM-15431] Funding Source: Medline
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NR 156
TC 810
Z9 925
U1 0
U2 64
PU ANNUAL REVIEWS
PI PALO ALTO
PA 4139 EL CAMINO WAY, PO BOX 10139, PALO ALTO, CA 94303-0139 USA
SN 0362-1642
J9 ANNU REV PHARMACOL
JI Annu. Rev. Pharmacol. Toxicol.
PY 2001
VL 41
BP 661
EP 690
DI 10.1146/annurev.pharmtox.41.1.661
PG 30
WC Pharmacology & Pharmacy; Toxicology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy; Toxicology
GA 428AR
UT WOS:000168439400025
PM 11264472
DA 2025-04-10
ER

PT J
AU Garuti, R
   Lelli, N
   Barozzini, M
   Tiozzo, R
   Dotti, MT
   Federico, A
   Ottomano, AM
   Croce, A
   Bertolini, S
   Calandra, S
AF Garuti, R
   Lelli, N
   Barozzini, M
   Tiozzo, R
   Dotti, MT
   Federico, A
   Ottomano, AM
   Croce, A
   Bertolini, S
   Calandra, S
TI Cerebrotendinous xanthomatosis caused by two new mutations of the
   sterol-27-hydroxylase gene that disrupt mRNA splicing
SO JOURNAL OF LIPID RESEARCH
LA English
DT Article
DE CYP27 gene; nucleotide substitution; donor splice site; alternative
   splicing
ID STEROL 27-HYDROXYLASE GENE; PRE-MESSENGER RNA; CHENODEOXYCHOLIC ACID;
   FAMILIAL HYPERCHOLESTEROLEMIA; MOLECULAR-GENETICS; RECEPTOR GENE;
   EUKARYOTES; DISEASE; ORIGIN; CHAIN
AB Cerebrotendinous xanthomatosis (CTX) is an inherited sterol storage disease associated with the accumulation of cholestanol and cholesterol in various tissues. CTX is caused by a deficiency of sterol-27-hydroxylase, a mitochondrial enzyme that oxidizes the side chain of cholesterol in the pathway leading to the formation of bile acids. In the present study we report two mutations of sterol-27-hydroxylase gene (CYP27 gene) found in Italian CTX patients. Proband T.C. is homozygous for a G --> A transition at the first nucleotide of intron 7. This mutation causes the formation of minute amounts of an abnormal mRNA, in which exon 6 joins directly to exon 8 with the skipping of exon 7. The exon 6-exon 8 junction results in a frame shift, downstream from the codon for Arg(362), which generates a string of 28 novel amino acids preceding a premature termination codon. Proband C.U. is homozygous for a G --> C transversion at the last nucleotide of exon 3. This mutation, which changes the consensus sequence of the 5' donor splice site, is associated with barely detectable levels of sterol-27-hydroxylase mRNA, of normal size, in proband fibroblasts. As both mutations change the sites for two restriction enzymes, rapid methods were devised for the identification of the healthy carriers among the probands' family members and for the screening of these mutations in other CTX patients.
C1 UNIV MODENA,DIPARTIMENTO SCI BIOMED,SEZ PATOL GEN,I-41100 MODENA,ITALY.
   UNIV SIENA,IST SCI NEUROL,SIENA,ITALY.
   UNIV GENOA,CTR PREVENZ ARTERIOSCLEROSI,I-16126 GENOA,ITALY.
   UNIV GENOA,DIPARTIMENTO MED INTERNA,I-16126 GENOA,ITALY.
C3 Universita di Modena e Reggio Emilia; University of Siena; University of
   Genoa; University of Genoa
RI Bertolini, Stefano/V-4899-2019; Federico, Antonio/H-8871-2017
OI Calandra, Sebastiano/0000-0001-6386-9174; federico,
   antonio/0000-0002-5246-1621
FU Telethon [E.0156] Funding Source: Medline
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   [No title captured]
NR 39
TC 41
Z9 45
U1 0
U2 0
PU LIPID RESEARCH INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998
SN 0022-2275
J9 J LIPID RES
JI J. Lipid Res.
PD JUL
PY 1996
VL 37
IS 7
BP 1459
EP 1467
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA UZ048
UT WOS:A1996UZ04800006
PM 8827518
DA 2025-04-10
ER

PT J
AU Saaoud, F
   Drummer, IVC
   Shao, Y
   Sun, Y
   Lu, YF
   Xu, KM
   Ni, D
   Jiang, XH
   Wang, H
   Yang, XF
AF Saaoud, Fatma
   I.V., Charles Drummer
   Shao, Ying
   Sun, Yu
   Lu, Yifan
   Xu, Keman
   Ni, Dong
   Jiang, Xiaohua
   Wang, Hong
   Yang, Xiaofeng
TI Circular RNAs are a novel type of non-coding RNAs in ROS regulation,
   cardiovascular metabolic inflammations and cancers
SO PHARMACOLOGY & THERAPEUTICS
LA English
DT Review
DE Circular RNAs (circRNAs); Vascular inflammation; Exosomes; Reactive
   oxygen species (ROS)
ID ENDOTHELIAL-CELL ACTIVATION; MESSENGER-RNA; PERIPHERAL-BLOOD; TRAINED
   IMMUNITY; EXPRESSION PROFILE; CONDITIONAL DANGER; EXOSOMAL CIRCRNAS;
   OXIDATIVE STRESS; BIOGENESIS; TRANSLATION
AB Circular RNAs (circRNAs) are a novel class of endogenous non-coding RNAs characterized by a covalently closed loop structure generated through a special type of alternative splicing termed back-splicing. Currently, an increasing body of evidence has demonstrated that 1) majority of circRNAs are evolutionarily conserved across species, stable, and resistant to RNase R degradation, and often exhibit cell-specific, and tissue-specific/ developmental-stage-specific expression and can be largely independent of the expression levels of the linear host gene-encoded linear RNAs; 2) the biogenesis of circRNAs via back-splicing is different from the canonical splicing of linear RNAs; 3) circRNA biogenesis is regulated by specific cis-acting elements and trans-acting factors; 4) circRNAs regulate biological and pathological processes by sponging miRNAs, binding to RNA-binding protein (RBP), regulators of splicing and transcription, modifiers of parental gene expression, and regulators of protein translation or being translated into peptides in various diseases; 5) circRNAs have been identified for their enrichment and stability in exosomes and detected in body fluids such as human blood, saliva, and cerebrospinal fluids, suggesting that these exo-circRNAs have potential applications as disease biomarkers and novel therapeutic targets; 6) several circRNAs are regulated by oxidative stress and mediate reactive oxygen species (ROS) production as well as promote ROS-induced cellular death, cell apoptosis, and inflammation; 7) circRNAs have also emerged as important regulators in atherosclerotic cardiovascular disease, metabolic disease, and cancers; 8) the potential mechanisms of several circRNAs have been described in diseases, hinting at their potential applications as novel therapeutic targets. In this highlight, we summarized the current understandings of the biogenesis and functions of circRNAs and their roles in ROS regulation and vascular inflammation-associated with cardiovascular and metabolic disease. (Word count: 272)
   Published by Elsevier Inc.
C1 [Saaoud, Fatma; I.V., Charles Drummer; Shao, Ying; Sun, Yu; Lu, Yifan; Xu, Keman; Ni, Dong; Jiang, Xiaohua; Yang, Xiaofeng] Cardiovasc Res Ctr, Philadelphia, PA USA.
   [Yang, Xiaofeng] Ctr Inflammat Translat & Clin Lung Res, Philadelphia, PA USA.
   [Yang, Xiaofeng] Ctr Thrombosis Res, Philadelphia, PA USA.
   [Saaoud, Fatma; I.V., Charles Drummer; Shao, Ying; Sun, Yu; Lu, Yifan; Xu, Keman; Ni, Dong; Jiang, Xiaohua; Wang, Hong; Yang, Xiaofeng] Temple Univ, Metab Dis Res, Lewis Katz Sch Med, Dept Pharmacol, Philadelphia, PA 19140 USA.
   [Saaoud, Fatma; I.V., Charles Drummer; Shao, Ying; Sun, Yu; Lu, Yifan; Xu, Keman; Ni, Dong; Jiang, Xiaohua; Wang, Hong; Yang, Xiaofeng] Temple Univ, Metab Dis Res, Lewis Katz Sch Med, Dept Microbiol, Philadelphia, PA 19140 USA.
   [Saaoud, Fatma; I.V., Charles Drummer; Shao, Ying; Sun, Yu; Lu, Yifan; Xu, Keman; Ni, Dong; Jiang, Xiaohua; Wang, Hong; Yang, Xiaofeng] Temple Univ, Metab Dis Res, Lewis Katz Sch Med, Dept Immunol, Philadelphia, PA 19140 USA.
C3 Pennsylvania Commonwealth System of Higher Education (PCSHE); Temple
   University; Pennsylvania Commonwealth System of Higher Education
   (PCSHE); Temple University; Pennsylvania Commonwealth System of Higher
   Education (PCSHE); Temple University
RP Yang, XF (corresponding author), Temple Univ, FAHA, Cardiovasc Res Ctr,Lewis Katz Sch Med, Ctr Inflammat Translat & Clin Lung Res,Metab Dis, 3500 North Broad St, Philadelphia, PA 19140 USA.
EM xfyang@temple.edu
RI SUN, YU/ABE-7355-2021; XU, KEMAN/JJC-6529-2023
OI Lu, Yifan/0000-0003-4461-0698
FU National Institutes of Health (NIH)/National Heart, Lung, and Blood
   Institute; National Institute of Diabetes and Digestive and Kidney
   Diseases [R01DK113775] Funding Source: NIH RePORTER
FX Our research activities are supported by grants from the National
   Institutes of Health (NIH)/National Heart, Lung, and Blood Institute (XY
   and HW). The content in this article is solely the responsibility of the
   authors and does not necessarily represent the official views of the
   NIH.
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NR 200
TC 84
Z9 86
U1 7
U2 109
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0163-7258
EI 1879-016X
J9 PHARMACOL THERAPEUT
JI Pharmacol. Ther.
PD APR
PY 2021
VL 220
AR 107715
DI 10.1016/j.pharmthera.2020.107715
EA MAR 2021
PG 17
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA RC0JU
UT WOS:000632491100011
PM 33141028
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Sharina, IG
   Jelen, F
   Bogatenkova, EP
   Thomas, A
   Martin, E
   Murad, F
AF Sharina, Iraida G.
   Jelen, Filip
   Bogatenkova, Elena P.
   Thomas, Anthony
   Martin, Emil
   Murad, Ferid
TI α1 soluble guanylyl cyclase (sGC) splice forms as potential regulators
   of human sGC activity
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID SPONTANEOUSLY HYPERTENSIVE-RATS; STABILIZING PROTEIN HUR; NITRIC-OXIDE
   RECEPTOR; DOWN-REGULATION; MESSENGER-RNA; SMOOTH-MUSCLE;
   SODIUM-NITROPRUSSIDE; EXPRESSION; SUBUNIT; ACTIVATION
AB Soluble guanylyl cyclase (sGC), a key protein in the NO/cGMP signaling pathway, is an obligatory heterodimeric protein composed of one alpha- and one beta-subunit. The alpha(1)/beta(1) sGC heterodimer is the predominant form expressed in various tissues and is regarded as the major isoform mediating NO-dependent effects such as vasodilation. We have identified three new a, sGC protein variants generated by alternative splicing. The 363 residue NI-a, sGC splice variant contains the regulatory domain, but lacks the catalytic domain. The shorter N2-alpha(1) sGC maintains 126 N-terminal residues and gains an additional 17 unique residues. The C-alpha(1) sGC variant lacks 240 N-terminal amino acids, but maintains a part of the regulatory domain and the entire catalytic domain. Q-PCR of N1-alpha(1), N2-alpha(1), sGC mRNA levels together with RT-PCR analysis for C-alpha(1) sGC demonstrated that the expression of the eel sGC splice forms vary in different human tissues indicative of tissue-specific regulation. Functional analysis of the N1-alpha(1) sGC demonstrated that this protein has a dominant-negative effect on the activity of sGC when co-expressed with the alpha(1)/beta(1) heterodimer. The C-alpha(1) sGC variant heterodimerizes with the 13, subunit and produces a fully functional NO- and BAY41-2272-sensitive enzyme. We also found that despite identical susceptibility to inhibition by ODQ, intracellular levels of the 54-kDa C-alpha(1) band did not change in response to ODQ treatments, while the level of 83 kDa alpha(1) band was significantly affected by ODQ. These studies suggest that modulation of the level and diversity of splice forms may represent novel mechanisms modulating the function of sGC in different human tissues.
C1 [Sharina, Iraida G.; Jelen, Filip; Bogatenkova, Elena P.; Thomas, Anthony; Martin, Emil; Murad, Ferid] Univ Texas Houston, Sch Med, Brown Fdn Inst Mol Med, Houston, TX 77030 USA.
C3 University of Texas System; University of Texas Health Science Center
   Houston
RP Sharina, IG (corresponding author), Univ Texas Houston, Sch Med, Brown Fdn Inst Mol Med, Houston, TX 77030 USA.
EM iraida.g.sharina@uth.tmc.edu; ferid.murad@uth.tmc.edu
RI Martin, Emil/HLX-8442-2023; Sharina, Iraida/C-9888-2014
OI Martin, Emil/0000-0002-9094-4165
FU NHLBI NIH HHS [R01 HL088128, HL 088128] Funding Source: Medline; NIGMS
   NIH HHS [GM 061731] Funding Source: Medline
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NR 45
TC 48
Z9 53
U1 0
U2 2
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD MAY 30
PY 2008
VL 283
IS 22
BP 15104
EP 15113
DI 10.1074/jbc.M710269200
PG 10
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 306EV
UT WOS:000256232000025
PM 18381288
OA Green Published, hybrid
DA 2025-04-10
ER

PT J
AU Fransen, P
   Chen, JL
   Vangheluwe, P
   Guns, PJ
AF Fransen, Paul
   Chen, Jialin
   Vangheluwe, Peter
   Guns, Pieter-Jan
TI Contractile Behavior of Mouse Aorta Depends on SERCA2 Isoform
   Distribution: Effects of Replacing SERCA2a by SERCA2b
SO FRONTIERS IN PHYSIOLOGY
LA English
DT Article
DE SERCA isoforms; vascular smooth muscle; contraction; mouse aorta;
   intracellular calcium
ID SARCOPLASMIC-RETICULUM CA2+-ATPASE; VASCULAR SMOOTH-MUSCLE;
   HEART-FAILURE; CA2+ HOMEOSTASIS; GENE-EXPRESSION; CELLS; RELAXATION;
   PHOSPHOLAMBAN; ENDOTHELIUM; ACTIVATION
AB The Sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA) actively pumps Ca2+ into the sarco/endoplasmic reticulum, thereby regulating intracellular Ca2+ concentrations and associated physiological processes. Different SERCA isoforms have been described (SERCA1, 2, and 3) with SERCA2 playing a pivotal role in Ca2+ homeostasis in cardiovascular tissues. In the heart, SERCA2a is the dominant isoform and has been proposed as therapeutic target in patients with heart failure. In the vasculature, both SERCA2a and SERCA2b are expressed with SERCA2b being the predominant isoform. The physiological role of SERCA2a in the vasculature, however, remains incompletely understood. In the present study, we used gene-modified mice in which the alternative splicing of the SERCA2-encoding gene (Atp2a2), underlying the expression of SERCA2a, is prevented and SERCA2a is replaced by SERCA2b. The resulting SERCA2(b/b) mice provide a unique opportunity to investigate the specific contribution of SERCA2a versus SERCA2b to vascular physiology. Aortic segments of SERCA2(b/b) (SERCA2a-deficient) and SERCA2(a/b) (control) mice were mounted in organ baths to evaluate vascular reactivity. SERCA2(b/b) aortic rings displayed higher contractions induced by phenylephrine (1 mu M). Surprisingly, the initial inositol-3-phosphate mediated phasic contraction showed a faster decay of force in SERCA2(b/b) mice, while the subsequent tonic contraction was larger in SERCA2(b/b) segments. Moreover, in the presence of the calcium channel blocker diltiazem (35 mu M) SERCA2(b/b) aortic rings showed higher contractions compared to SERCA2(a/b), suggesting that SERCA2a (deficiency) modulates the activity of non-selective cation channels. Additionally, in endothelial cell (EC)-denuded aortic segments, the SERCA-inhibitor cyclopiazonic acid (CPA) caused markedly larger contractions in SERCA2(b/b) mice, while the increases of cytosolic Ca2+ were similar in both strains. Hence, aortas of SERCA2(b/b) mice appear to have a stronger coupling of intracellular Ca2+ to contraction, which may be in agreement with the reported difference in intracellular localization of SERCA2a versus SERCA2b. Finally, EC-mediated relaxation by acetylcholine and ATP was assessed. Concentration-response-curves for ATP showed a higher sensitivity of aortic segments of SERCA2(b/b) mice, while no difference in potency between strains were observed for acetylcholine. In summary, despite the relative low expression of SERCA2a in the murine aorta, our results point toward a distinct role in vascular physiology.
C1 [Fransen, Paul; Guns, Pieter-Jan] Univ Antwerp, Fac Pharmaceut Sci, Lab Physiopharmacol, Antwerp, Belgium.
   [Fransen, Paul; Guns, Pieter-Jan] Univ Antwerp, Fac Med & Hlth Sci, Antwerp, Belgium.
   [Chen, Jialin; Vangheluwe, Peter] Katholieke Univ Leuven, Lab Cellular Transport Syst, Leuven, Belgium.
C3 University of Antwerp; University of Antwerp; KU Leuven
RP Fransen, P (corresponding author), Univ Antwerp, Fac Pharmaceut Sci, Lab Physiopharmacol, Antwerp, Belgium.; Fransen, P (corresponding author), Univ Antwerp, Fac Med & Hlth Sci, Antwerp, Belgium.
EM paul.fransen@uantwerpen.be
RI Fransen, Paul/AAP-4580-2020; Guns, Pieter-Jan/A-8314-2015; Vangheluwe,
   Peter/P-5476-2017
OI Guns, Pieter-Jan/0000-0002-8640-6620; Vangheluwe,
   Peter/0000-0002-7822-2944
FU Interuniversity Attraction Poles Programme (Belgian State) Federal
   Office for Scientific, Technical and Cultural Affairs [P5/02, P6/28];
   Flanders Research Foundation FWO [G.0276.04, G.0627.06, G.0646.08,
   G.0442.12]
FX The research was supported by the Interuniversity Attraction Poles
   Programme (Belgian State) Federal Office for Scientific, Technical and
   Cultural Affairs (Grant P5/02 to Hidde Bult and PH, and P6/28 to PV) and
   Flanders Research Foundation FWO Grants (G.0276.04 to PH, G.0627.06 to
   Hidde Bult, G.0646.08 and G.0442.12 to PV). P-JG was a research
   assistant of the FWO.
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NR 37
TC 7
Z9 7
U1 0
U2 1
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-042X
J9 FRONT PHYSIOL
JI Front. Physiol.
PD MAR 31
PY 2020
VL 11
AR 282
DI 10.3389/fphys.2020.00282
PG 13
WC Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology
GA LE6ND
UT WOS:000526839400001
PM 32296344
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Blake, DJ
   Nawrotzki, R
   Peters, MF
   Froehner, SC
   Davies, KE
AF Blake, DJ
   Nawrotzki, R
   Peters, MF
   Froehner, SC
   Davies, KE
TI Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic
   protein
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID DYSTROPHIN-RELATED PROTEIN; ACETYLCHOLINE-RECEPTOR; SKELETAL-MUSCLE;
   TERMINAL DOMAIN; ELECTRIC TISSUE; ALPHA-ACTININ; AGRIN; TORPEDO;
   MEMBRANE; BINDING
AB Dystrophin-related and -associated proteins are important in the formation and maintenance of the mammalian neuromuscular junction. We have characterized mouse cDNA clones encoding isoforms of the dystrophin-homologous 87-kDa postsynaptic protein, dystrobrevin. In Torpedo, the 87-kDa protein is multiply phosphorylated and closely associated with proteins in the postsynaptic cytoskeleton, including the acetylcholine receptor. In contrast to Torpedo, where only a single transcript is seen, the mouse expresses several mRNAs encoding different isoforms. A 6.0-kilobase transcript in brain encodes a 78-kDa protein (dystrobrevin-1) that is very similar to the Torpedo sequence. A second transcript encodes a 59-kDa protein (dystrobrevin-2) that has a different C terminus, lacking the putative tyrosine kinase substrate domain. In skeletal and cardiac muscle, transcripts of 1.7 and 3.3/3.5 kilobases predominate and encode additional isoforms. Alternative splicing within the coding region and differential usage of untranslated regions produce additional variation. Multiple dystrobrevin-immunoreactive proteins copurify with syntrophin from mouse tissues. In skeletal muscle, dystrobrevin immunoreactivity is restricted to the neuromuscular junction and sarcolemma. The occurrence of many dystrobrevin isoforms is significant because alternative splicing and phosphorylation often have profound effects upon the biological activity of synaptic proteins.
C1 JOHN RADCLIFFE HOSP,INST MOLEC MED,MOLEC GENET GRP,OXFORD OX3 9DU,ENGLAND.
   UNIV N CAROLINA,DEPT PHYSIOL,CHAPEL HILL,NC 27599.
C3 University of Oxford; University of North Carolina; University of North
   Carolina Chapel Hill
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NR 51
TC 146
Z9 154
U1 0
U2 0
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814
SN 0021-9258
J9 J BIOL CHEM
JI J. Biol. Chem.
PD MAR 29
PY 1996
VL 271
IS 13
BP 7802
EP 7810
DI 10.1074/jbc.271.13.7802
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA UC774
UT WOS:A1996UC77400092
PM 8631824
OA hybrid, Green Published
DA 2025-04-10
ER

PT J
AU Payne, MC
   Zhang, HY
   Shirasawa, Y
   Koga, Y
   Ikebe, M
   Benoit, JN
   Fisher, SA
AF Payne, MC
   Zhang, HY
   Shirasawa, Y
   Koga, Y
   Ikebe, M
   Benoit, JN
   Fisher, SA
TI Dynamic changes in expression of myosin phosphatase in a model of portal
   hypertension
SO AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
LA English
DT Article
DE hypertrophy; phenotype; cGMP signaling
ID LIGHT-CHAIN PHOSPHATASE; VASCULAR SMOOTH-MUSCLE; ENDOTHELIUM-DEPENDENT
   RELAXATIONS; NITRIC-OXIDE; HEAVY-CHAIN; CORONARY MICROCIRCULATION; CA2+
   SENSITIZATION; VESSEL SIZE; RAT; KINASE
AB Myosin phosphatase is a target for signaling pathways that modulate calcium sensitivity of force production in smooth muscle. Myosin phosphatase targeting subunit 1 (MYPT1) isoforms are generated by cassette-type alternative splicing of exons in the central and 3' portion of the transcript. Exclusion of the 3' alternative exon, coding for the leucine zipper (LZ)-positive MYPT1 isoform, is associated with the ability to desensitize to calcium (relax) in response to NO/cGMP-dependent signaling. We examined expression of MYPT1 isoforms and smooth muscle phenotype in normal rat vessels and in a prehepatic model of portal hypertension characterized by arteriolar dilation. The large capacitance vessels, aorta, pulmonary artery, and inferior vena cava expressed predominantly the 3' exonout/LZ-positive MYPT1 isoform. The first-order mesenteric resistance artery (MA1) and portal vein (PV) expressed severalfold higher levels of MYPT1 with predominance of the 3' exon-included/LZ-negative isoform. There was minor variation in the presence of the MYPT1 central alternative exons. Myosin heavy and light chain splice variants in part cosegregated with MYPT1 isoforms. In response to portal hypertension induced by PV ligature, abundance of MYPT1 in PV and MA1 was significantly reduced and switched to the LZ-positive isoform. These changes were evident within 1 day of PV ligature and were maintained for up to 10 days before reverting to control values at day 14. Alteration of MYPT1 expression was part of a complex change in protein expression that can be generalized as a modulation from a phasic (fast) to a tonic (slow) contractile phenotype. Implications of vascular smooth muscle phenotypic diversity and reversible phenotypic modulation in portal hypertension with regards to regulation of blood flow are discussed.
C1 Case Western Reserve Univ, Sch Med, Dept Med, BRB 422, Cleveland, OH 44106 USA.
   Case Western Reserve Univ, Sch Med, Dept Physiol, Cleveland, OH 44106 USA.
   Univ N Dakota, Dept Pharmacol Physiol & Therapeut, Grand Forks, ND 58202 USA.
   Univ Massachusetts, Dept Physiol, Worcester, MA 01655 USA.
C3 University System of Ohio; Case Western Reserve University; University
   System of Ohio; Case Western Reserve University; University of North
   Dakota Grand Forks; University of Massachusetts System; University of
   Massachusetts Worcester
RP Case Western Reserve Univ, Sch Med, Dept Med, BRB 422, 2109 Adelbert Rd, Cleveland, OH 44106 USA.
EM saf9@po.cwru.edu
RI KOGA, YASUHIKO/V-3913-2019; fisher, steven/G-2630-2010
OI KOGA, YASUHIKO/0000-0002-4974-9026
FU NHLBI NIH HHS [HL-66171] Funding Source: Medline; NIDDK NIH HHS
   [DK-51430] Funding Source: Medline
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NR 62
TC 44
Z9 48
U1 0
U2 0
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6135
EI 1522-1539
J9 AM J PHYSIOL-HEART C
JI Am. J. Physiol.-Heart Circul. Physiol.
PD MAY
PY 2004
VL 286
IS 5
BP H1801
EP H1810
DI 10.1152/ajpheart.00696.2003
PG 10
WC Cardiac & Cardiovascular Systems; Physiology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Physiology
GA 810XH
UT WOS:000220736500027
PM 14704233
DA 2025-04-10
ER

PT J
AU Zhao, LL
   Cai, HY
   Wu, YB
   Tian, CF
   Wen, ZG
   Yang, PL
AF Zhao, Lulu
   Cai, Hongying
   Wu, Yongbao
   Tian, Changfu
   Wen, Zhiguo
   Yang, Peilong
TI Severe choline deficiency induces alternative splicing aberrance in
   optimized duck primary hepatocyte cultures
SO ANIMAL BIOSCIENCE
LA English
DT Article
DE Alternative Splicing; Choline-deficient Model; Lipid Metabolism; Primary
   Duck Hepatocyte
ID FATTY LIVER-DISEASE; IN-VITRO; CELLS; METABOLISM; BINDING; MODELS
AB Objective: Choline deficiency, one main trigger for nonalcoholic fatty liver disease (NAFLD), is closely related to lipid metabolism disorder. Previous study in a choline-deficient model has largely focused on gene expression rather than gene structure, especially sparse are studies regarding to alternative splicing (AS). In modern life science research, primary hepatocytes culture technology facilitates such studies, which can accurately imitate liver activity in vitro and show unique superiority. Whereas limitations to traditional hepato-cytes culture technology exist in terms of efficiency and operability. This study pursued an optimization culture method for duck primary hepatocytes to explore AS in choline-deficient model.Methods: We performed an optimization culture method for duck primary hepatocytes with multi-step digestion procedure from Pekin duck embryos. Subsequently a NAFLD model was constructed with choline-free medium. RNA-seq and further analysis by rMATS were performed to identify AS events alterations in choline-deficency duck primary hepatocytes.Results: The results showed E13 (embryonic day 13) to E15 is suitable to obtain hepatocytes, and the viability reached over 95% by trypan blue exclusion assay. Primary hepatocyte retained their biological function as well identified by Periodic Acid-Schiff staining method and Glucose-6-phosphate dehydrogenase activity assay, respectively. Meanwhile, genes of alb and afp and specific protein of albumin were detected to verify cultured hepatocytes. Immunofluorescence was used to evaluate purity of hepatocytes, presenting up to 90%. On this base, choline-deficient model was constructed and displayed significantly increase of intracellular triglyceride and cholesterol as reported previously. Intriguingly, our data suggested that AS events in choline-deficient model were implicated in pivotal biological processes as an aberrant transcriptional regulator, of which 16 genes were involved in lipid metabolism and highly enriched in glycerophospholipid metabolism.Conclusion: An effective and rapid protocol for obtaining duck primary hepatocytes was established, by which our findings manifested choline deficiency could induce the accumulation of lipid and result in aberrant AS events in hepatocytes, providing a novel insight into various AS in the metabolism role of choline.
C1 [Zhao, Lulu; Cai, Hongying; Wu, Yongbao; Tian, Changfu; Wen, Zhiguo; Yang, Peilong] Chinese Acad Agr Sci, Inst Feed Res, Beijing, Peoples R China.
   [Zhao, Lulu] China Agr Univ, Coll Biol Sci, State Key Lab Agrobiotechnol, Beijing 100083, Peoples R China.
C3 Chinese Academy of Agricultural Sciences; China Agricultural University
RP Wen, ZG; Yang, PL (corresponding author), Chinese Acad Agr Sci, Inst Feed Res, Beijing, Peoples R China.
EM wenzhiguo@caas.cn; yangpeilong@caas.cn
RI Tian, Chang Fu/O-4482-2019; Wu, Yongbao/MTE-6016-2025
OI Wen, Zhi-Guo/0000-0003-3477-2298; TIAN, Chang Fu/0000-0002-0479-363X
FU National Natural Science Foundation of China [31802081]
FX This research was funded by National Natural Science Foundation of China
   (31802081).
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NR 55
TC 3
Z9 3
U1 1
U2 17
PU ASIAN-AUSTRALASIAN ASSOC ANIMAL PRODUCTION SOC
PI SEOUL
PA ROOM 708 SAMMO SPOREX, 1638-32, SEOWON-DONG, GWANAK-GU, SEOUL 151-730,
   SOUTH KOREA
SN 2765-0189
EI 2765-0235
J9 ANIM BIOSCI
JI Anim. Biosci.
PD NOV
PY 2022
VL 35
IS 11
BP 1787
EP 1799
DI 10.5713/ab.22.0051
PG 13
WC Agriculture, Dairy & Animal Science
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Agriculture
GA 6A7TA
UT WOS:000880852100015
PM 35507845
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU van den Berg, YW
   Versteeg, HH
AF van den Berg, Y. W.
   Versteeg, H. H.
TI Alternatively spliced tissue factor A crippled protein in coagulation or
   a key player in non-haemostatic processes?
SO HAMOSTASEOLOGIE
LA English
DT Review
DE Angiogenesis; cancer; cardiovascular disease; integrins
ID FACTOR EXPRESSION; PROCOAGULANT ACTIVITY; CANCER; ANGIOGENESIS; CELLS;
   PROGRESSION; EVENTS
AB Full-length tissue factor (fITF) initiates coagulation, but also exerts non-hemostatic functions such as inflammation and angiogenesis I through,protease activated receptors (PARs) In 2003 a soluble variant of fITF was described which results from alternative splicing Since its discovery the role of alternatively spliced; tissue factor (asTF) in coagulation has been debated. asTF may have pro-coagulant propeites, but due to structural differences when compared to fITF, asTF coagulant function may be relatively low. Nevertheless, similar to I fITF, asTF appears to have non-hemostatic properties, asTF expression in tumors correlates with increased tumor size, vessel I number and poor survival in some cancer I types, and drives tumor growth in animal I models Interestingly, unlike fITF, asTF does not promote angiogenesis through activating PARs but:rather:via integrin ligation. fITF is a critical determinant'in cardiovascular disease but little is known about asTF in cardiovascular disease asTF is,Produced by monocytes. and macrophages thus macrophage-derived asTF may contribute:to atherosclerotic disease In conclusion, unraveling asTF's non-hemostatic, properties may generate new insights in the pathophysiology and diagnostics of cancer and cardiovascular disease.
C1 [van den Berg, Y. W.; Versteeg, H. H.] Leiden Univ, Med Ctr, Einthoven Lab Expt Vasc Med, Dept Thrombosis & Haemostasis, NL-2300 RC Leiden, Netherlands.
C3 Leiden University; Leiden University Medical Center (LUMC); Leiden
   University - Excl LUMC
RP Versteeg, HH (corresponding author), Leiden Univ, Med Ctr, Einthoven Lab Expt Vasc Med, Dept Thrombosis & Haemostasis, C2-R,POB 9600, NL-2300 RC Leiden, Netherlands.
RI Versteeg, Henri/G-1783-2018
OI Versteeg, Henri/0000-0003-4294-175X
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NR 39
TC 21
Z9 22
U1 0
U2 1
PU GEORG THIEME VERLAG KG
PI STUTTGART
PA RUDIGERSTR 14, D-70469 STUTTGART, GERMANY
SN 0720-9355
EI 2567-5761
J9 HAMOSTASEOLOGIE
JI Hamostaseologie
PD AUG
PY 2010
VL 30
IS 3
BP 144
EP +
DI 10.1055/s-0037-1619043
PG 6
WC Hematology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology
GA 647DE
UT WOS:000281595400005
PM 20680231
DA 2025-04-10
ER

PT J
AU Burg, MA
   Lee, JA
   Cole, GJ
AF Burg, MA
   Lee, JA
   Cole, GJ
TI An alternatively spliced, 5′-truncated MAP1B isoform is expressed in the
   developing chick nervous system
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Article
DE claustrin; MAP1B; alternative splicing; midline glia
ID CHONDROITIN SULFATE PROTEOGLYCAN; MICROTUBULE-ASSOCIATED PROTEIN-1B;
   HIGH-MOLECULAR-WEIGHT; NEURITE OUTGROWTH; EXTRACELLULAR-MATRIX; BINDING
   DOMAIN; CELL-ADHESION; BRAIN; BOUNDARIES; NEURONS
AB Our laboratory has previously characterized a keratan sulfate proteoglycan, named claustrin, and shown by molecular cloning that claustrin and the mouse MAP1B protein share high homology, with claustrin representing a 5'-truncated fragment of MAP1B. In the present study, we examine further the relationship between claustrin and MAP1B, and also describe the isolation of a cDNA encoding the S'-region of MAP1B, which shares 3'-untranslated sequence, but not coding sequence, with claustrin. We call this partial cDNA 3'-MAP1B-related clone (3'-MRC), since it is homologous to the 3'-region of the mouse MAP1B sequence. We show by Northern analysis that distinct mRNAs are recognized by the claustrin and 3'-MRC cDNAs, and by RT-PCR that mRNAs encoding these distinct MAP1B-related molecules are present in embryonic chick brain and cardiac and smooth muscle. Our data also suggest a higher level of expression of claustrin mRNA in astrocyte cultures, when compared to 3'-MRC. Our data therefore provide new evidence that alternatively spliced variants of MAP1B are expressed in brain, and that at least one of these variants encodes the claustrin proteoglycan.
C1 Ohio State Univ, Neurobiotechnol Ctr, Columbus, OH 43210 USA.
   Ohio State Univ, Dept Cell Biol Neurobiol & Anat, Columbus, OH 43210 USA.
C3 University System of Ohio; Ohio State University; University System of
   Ohio; Ohio State University
RP Cole, GJ (corresponding author), Ohio State Univ, Neurobiotechnol Ctr, Columbus, OH 43210 USA.
FU NINDS NIH HHS [NS29934] Funding Source: Medline
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NR 36
TC 7
Z9 7
U1 0
U2 0
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 0895-8696
J9 J MOL NEUROSCI
JI J. Mol. Neurosci.
PD DEC
PY 1997
VL 9
IS 3
BP 177
EP 186
DI 10.1007/BF02800500
PG 10
WC Biochemistry & Molecular Biology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA YU389
UT WOS:000071712200004
PM 9481619
DA 2025-04-10
ER

PT J
AU Oudejans, CBM
   Poutsma, A
   Michel, OJ
   Thulluru, HK
   Mulders, J
   van de Vrugt, HJ
   Sistermans, EA
   van Dijk, M
AF Oudejans, Cees B. M.
   Poutsma, Ankie
   Michel, Omar J.
   Thulluru, Hari K.
   Mulders, Joyce
   van de Vrugt, Henri J.
   Sistermans, Erik A.
   van Dijk, Marie
TI Noncoding RNA-regulated gain-of-function of STOX2 in Finnish
   pre-eclamptic families
SO SCIENTIFIC REPORTS
LA English
DT Article
ID EXPRESSION; GENE; BINDING; LINKAGE; LOCUS; ALPHA; LEADS; 10Q22
AB The familial forms of early onset pre-eclampsia and related syndromes (HELLP) present with hypertension and proteinuria in the mother and growth restriction of the fetus. Genetically, these clinically similar entities are caused by different founder-dependent, placentally-expressed paralogous genes. All susceptibility genes (STOX1, lincHELLP, INO80B) identified so far are master control genes that regulate an essential trophoblast differentiation pathway, but act at different entry points. Many genes remain to be identified. Here we demonstrate that a long non-coding RNA (lncRNA) within intron 3 of the STOX2 gene on 4q35.1 acts as a permissive cis-acting regulator of alternative splicing of STOX2. When this lncRNA is mutated or absent, an alternative exon (3B) of STOX2 is included. This introduces a stop codon resulting in the deletion of a highly conserved domain of 64 amino acids in the C-terminal of the STOX2 protein. A mutation present within a regulatory region within intron 1 of STOX2 has the same effect after blocking with CRISPR technology: transcripts with exon 3B are upregulated. This proces appears related to transcriptional control by a chromatin-splicing adaptor complex as described for FGFR2. For STOX2, CHD5, coding for a chromodomain helicase DNA binding protein, qualifies as the chromatin modifier in this process.
C1 [Oudejans, Cees B. M.; Poutsma, Ankie; Michel, Omar J.; Thulluru, Hari K.; Mulders, Joyce; van Dijk, Marie] Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Amsterdam, Netherlands.
   [van de Vrugt, Henri J.; Sistermans, Erik A.] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands.
C3 Vrije Universiteit Amsterdam; VU UNIVERSITY MEDICAL CENTER; Vrije
   Universiteit Amsterdam; VU UNIVERSITY MEDICAL CENTER
RP Oudejans, CBM (corresponding author), Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Amsterdam, Netherlands.
EM cbm.oudejans@vumc.nl
RI van Dijk, Marie/L-1901-2014; Sistermans, Erik/B-1109-2009
OI Oudejans, Cees/0000-0003-0717-4946; van Dijk, Marie/0000-0003-1461-3441;
   Sistermans, Erik/0000-0001-7187-4563
FU Institute for Cardiovascular Research
FX Tea Kaartokallio and Hannele Laivuori, both at Haartman Institute,
   Department of Medical Genetics and Research Programs Unit, Women's
   Health, University of Helsinki, Helsinki, Finland and Katja Kivinen,
   Wellcome Trust Genome Campus, Hinxton, Wellcome Trust Sanger Institute,
   Cambridge, United Kingdom are kindly acknowledged for samples, marker
   data and discussions. Judith Cartwright, St. George's, University of
   London, is kindly thanked for providing SGHPL-5 cells. HKT is supported
   by a grant from the Institute for Cardiovascular Research.
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NR 29
TC 10
Z9 13
U1 0
U2 8
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD AUG 24
PY 2016
VL 6
AR 32129
DI 10.1038/srep32129
PG 10
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA DT9VL
UT WOS:000381850300001
PM 27555360
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Chang, H
   Riese, DJ
   Gilbert, W
   Stern, DF
   McMahan, UJ
AF Chang, H
   Riese, DJ
   Gilbert, W
   Stern, DF
   McMahan, UJ
TI Ligands for ErbB-family receptors encoded by a neuregulin-like gene
SO NATURE
LA English
DT Article
ID EPIDERMAL GROWTH-FACTOR; CARDIAC DEVELOPMENT; HEREGULIN; ACTIVATION;
   MEMBER; ARIA; HER4/P180(ERBB4); REQUIREMENT; EXPRESSION; SUBSET
AB Neuregulins (also called ARIA(1), GGF(2), heregulin(3) or NDF4) are a group of polypeptide factors that arise from alternative RNA splicing of a single gene. Through their interaction with the ErbB family of receptors (ErbB2, ErbB3 and ErbB4), neuregulins help to regulate cell growth and differentiation in many tissue(5-7). Here we report the cloning of a second neuregulin-like gene, neuregulin-2. The encoded product of the neuregulin-2 gene has a motif structure similar to that of neuregulins and an alternative splicing site in the epidermal growth factor(EGF)-like domain gives rise to two isoforms (alpha and beta). Northern blot and in situ hybridization analysis of adult rat tissues indicate that expression of neuregulin-2 is highest in the cerebellum, and the expression pattern is different from that of neuregulins. Recombinant neuregulin-2 beta induces the tyrosine-phosphorylation of ErbB2, ErbB3 and ErbB4 in cell Lines expressing all of these ErbB-family receptors. However, in cell lines with defined combinations of ErbBs, neuregulin-2 beta only activates those with ErbB3 and/or ErbB4, suggesting that signalling by neuregulin-2 is mediated by ErbB3 and/or ErbB4 receptors.
C1 YALE UNIV,DEPT BIOL,NEW HAVEN,CT 06340.
   YALE UNIV,DEPT PATHOL,NEW HAVEN,CT 06340.
   HARVARD UNIV,DEPT MOL & CELLULAR BIOL,CAMBRIDGE,MA 02138.
C3 Yale University; Yale University; Harvard University
RP Chang, H (corresponding author), STANFORD UNIV,SCH MED,DEPT NEUROBIOL,STANFORD,CA 94305, USA.
RI Riese, David/AAF-3581-2020
OI Riese, David/0000-0002-8823-5802
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NR 29
TC 259
Z9 333
U1 0
U2 4
PU MACMILLAN MAGAZINES LTD
PI LONDON
PA PORTERS SOUTH, 4 CRINAN ST, LONDON, ENGLAND N1 9XW
SN 0028-0836
J9 NATURE
JI Nature
PD MAY 29
PY 1997
VL 387
IS 6632
BP 509
EP 512
DI 10.1038/387509a0
PG 4
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA XB479
UT WOS:A1997XB47900050
PM 9168114
DA 2025-04-10
ER

PT J
AU Mali, B
   Millane, RC
   Plickert, G
   Frohme, M
   Frank, U
AF Mali, Brahim
   Millane, R. Cathriona
   Plickert, Guenter
   Frohme, Marcus
   Frank, Uri
TI A polymorphic, thrombospondin domain-containing lectin is an oocyte
   marker in Hydractinia: implications for germ cell specification
   and sex determination
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY
LA English
DT Article
DE alternative splicing; hermaphroditism; Cnidaira; intersexuality
ID STEM-CELLS; HYDROID HYDRACTINIA; BINDING
AB We have identified a novel, multidomain, polymorphic lectin in the marine cnidarian Hydractinia echinata. The gene is expressed in oocytes and was therefore named CEL for cnidarian egg lectin. The predicted protein has an unusual domain architecture, consisting of variable numbers of thrombospondin type 1 domains, flanked by one N-terminal and two C-terminal galactose binding lectin domains. The diversity of the gene's transcripts results from allelic polymorphism as well as alternative splicing. Hydractinia is dioecious and its sex has been reported previously to be genetically determined. We found intersexual colonies that were functional males, but had immature CEL-positive oocytes alongside mature sperm in the same gonads. Intersexuality was observed to be common in one population but not found in others. Hermaphroditic, self-fertile colonies were found in one locality; however, in these cases gonads contained either male or female gametes without mixed ones. Intersexuality that was considered to be a very rare event is apparently a more common phenomenon, at least in some populations. True hermaphroditism also occurs in this species. CEL can be considered as a marker for early oocyte differentiation and may play a role in germ cell specification and sex determination in cnidarians.
C1 [Mali, Brahim; Frohme, Marcus] Tech Univ Appl Sci, Wildau, Germany.
   [Millane, R. Cathriona; Frank, Uri] Natl Univ Ireland, Martin Ryan Marine Sci Inst, Galway, Ireland.
   [Millane, R. Cathriona; Frank, Uri] Natl Univ Ireland, Sch Nat Sci, Galway, Ireland.
   [Plickert, Guenter] Univ Cologne, Inst Zool, D-5000 Cologne 41, Germany.
C3 University of Applied Sciences Wildau; Ollscoil na Gaillimhe-University
   of Galway; Ollscoil na Gaillimhe-University of Galway; University of
   Cologne
RP Frank, U (corresponding author), Univ Rd, Galway, Ireland.
EM uri.frank@nuigalway.ie
RI Frohme, Marcus/HCH-4031-2022
OI Frank, Uri/0000-0003-2094-6381
FU Science Foundation Ireland (SFI) [RFP2006-EEB050, 07/IN.1/B943,
   07/IN3/B943/EC07]; Science Foundation Ireland (SFI) [07/IN.1/B943,
   07/IN3/B943/EC07] Funding Source: Science Foundation Ireland (SFI)
FX We thank Fatemeh Shayeganfar, John Galvin and Albert Lawless for
   technical assistance. Werner A. Muller is kindly acknowledged for
   comments on an earlier version of the text. This work was funded by
   Science Foundation Ireland (SFI), grants Nos RFP2006-EEB050,
   07/IN.1/B943 and 07/IN3/B943/EC07 to UF.
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NR 19
TC 6
Z9 7
U1 0
U2 5
PU U B C PRESS
PI BILBAO
PA UNIV BASQUE COUNTRY, EDITORIAL SERVICES, PO BOX 1397, E-48080 BILBAO,
   SPAIN
SN 0214-6282
J9 INT J DEV BIOL
JI Int. J. Dev. Biol.
PY 2011
VL 55
IS 1
BP 103
EP 108
DI 10.1387/ijdb.103063bm
PG 6
WC Developmental Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Developmental Biology
GA 780FL
UT WOS:000291839800013
PM 21425086
OA Bronze
DA 2025-04-10
ER

PT J
AU Jonsson, MKB
   van der Heyden, MAG
   van Veen, TAB
AF Jonsson, Malin K. B.
   van der Heyden, Marcel A. G.
   van Veen, Toon A. B.
TI Deciphering hERG channels: Molecular basis of the rapid component of the
   delayed rectifier potassium current
SO JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
LA English
DT Review
DE hERG channel; Rapid delayed rectifier potassium channel; Isoforms;
   Splice variants; hERG1b; KCNH2
ID QT INTERVAL PROLONGATION; I-KR; K+ CHANNEL; TERMINAL DOMAIN; CARDIAC
   ELECTROPHYSIOLOGY; HETEROMERIC CURRENTS; HUMAN HEART; EXPRESSION; MOUSE;
   IDENTIFICATION
AB The rapid component of the delayed rectifier potassium current (I-Kr), encoded by the ether-a-go-go-related gene (ERG1, officially denominated as KCNH2), is a major contributor to repolarization in the mammalian heart. Acute (e.g. drug-induced) and chronic (e.g. inherited genetic disorder) disruptions of this current can lead to prolongation of the action potential and potentiate occurrence of lethal arrhythmias. Many cardiac and non-cardiac drugs show high affinity for the I-Kr channel and it is therefore extensively studied during safety pharmacology. The unique biophysical and pharmacological properties of the I-Kr channel are largely recapitulated by expressing the human variant (hERG1a) in overexpressing systems. hERG1a channels are tetramers consisting of four 1159 amino acid long proteins and have electrophysiological properties similar, but not identical, to native I-Kr. In the search for an explanation to the discrepancies between I-Kr and hERG1a channels, two alternative hERG1 proteins have been found. Alternative transcription of hERG1 leads to a protein with a 56 amino acid shorter N-terminus, known as hERG1b. hERG1b can form channels alone or coassemble with hERG1a. Alternative splicing leads to an alternate C-terminus and a protein known as hERGuso. hERGuso and hERG1b regulate hERG1a channel trafficking, functional expression and channel kinetics. Expression of hERGuso leads to a reduced number of channels at the plasma membrane and thereby reduces current density. On the contrary, co-assembly with hERG1b alters channel kinetics resulting in more available channels and a larger current. These findings have implication for understanding mechanisms of disease, acute and chronic drug effects, and potential gender differences. (C) 2012 Elsevier Ltd. All rights reserved.
C1 [Jonsson, Malin K. B.; van der Heyden, Marcel A. G.; van Veen, Toon A. B.] Univ Med Ctr Utrecht, Dept Med Physiol, Div Heart & Lungs, NL-3584 CM Utrecht, Netherlands.
C3 Utrecht University; Utrecht University Medical Center
RP Jonsson, MKB (corresponding author), Univ Med Ctr Utrecht, Dept Med Physiol, Div Heart & Lungs, Yalelaan 50, NL-3584 CM Utrecht, Netherlands.
EM m.k.b.jonsson@umcutrecht.nl
OI van der Heyden, Marcel/0000-0002-4225-7942; Jonsson,
   Malin/0000-0003-2986-2889
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NR 50
TC 18
Z9 22
U1 0
U2 17
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0022-2828
EI 1095-8584
J9 J MOL CELL CARDIOL
JI J. Mol. Cell. Cardiol.
PD SEP
PY 2012
VL 53
IS 3
BP 369
EP 374
DI 10.1016/j.yjmcc.2012.06.011
PG 6
WC Cardiac & Cardiovascular Systems; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Cell Biology
GA 993LO
UT WOS:000307861400010
PM 22742967
DA 2025-04-10
ER

PT J
AU Hirao, C
   Yonemura, I
   Miyazaki, JI
AF Hirao, C
   Yonemura, I
   Miyazaki, JI
TI Genomic structure of the chicken slow skeletal muscle troponin T gene
SO GENE
LA English
DT Article
DE gene structure; internal acceptor site; cis-acting element; EMSA; E-box;
   M-CAT-like
ID SERUM RESPONSE FACTOR; CAT BINDING-FACTOR; TRANSCRIPTION; EXPRESSION;
   PROMOTER; ISOFORMS; SEQUENCE; REGION; BOX; ORGANIZATION
AB Troponin T (TnT) is a key protein for Ca2+-sensitive molecular switching of muscle contraction. In vertebrates, three TnT genes have been identified, which produce isoforms characteristic of cardiac, fast skeletal, and slow skeletal muscles through alternative splicing in a tissue-specific and developmentally regulated manner. The diversification of myofibers into forms with specific metabolic and contractile characteristics is thought to be closely associated with the differential expression of these TnT isoforms. Herein, we determined the nucleotide sequence of the chicken slow skeletal muscle TnT gene and its upstream region. The gene was simpler in structure than the two other chicken genes. The transcription initiation site was positioned 183 bp upstream of the 3' end of exon 1. Alternative splicing of exon 5 using an internal acceptor site generated two distinct slow skeletal muscle troponin T (sTnT) transcripts. We identified possible regulatory elements, M-CAT-like, CACC-box, and E-box (E-box1 to E-box3) motifs in the upstream region and an E-box motif (E-box4) in exon 1. (C) 2004 Elsevier B.V. All rights reserved.
C1 Univ Tsukuba, Inst Biol Sci, Tsukuba, Ibaraki 3058572, Japan.
   Japan Sci & Technol Corp, Meguro Ku, Tokyo 1530041, Japan.
C3 University of Tsukuba; Japan Science & Technology Agency (JST)
RP Univ Tsukuba, Inst Biol Sci, Tennoudai 1-1-1, Tsukuba, Ibaraki 3058572, Japan.
EM junichi@biol.tsukuba.ac.jp
RI Miyazaki, Jun-ichi/N-1976-2015
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NR 43
TC 7
Z9 7
U1 0
U2 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD SEP 1
PY 2004
VL 338
IS 2
BP 243
EP 256
DI 10.1016/j.gene.2004.05.023
PG 14
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 852ST
UT WOS:000223777400011
PM 15315828
DA 2025-04-10
ER

PT J
AU Jin, KL
   Graham, SH
   Mao, XO
   He, XJ
   Nagayama, T
   Simon, RP
   Greenberg, DA
AF Jin, KL
   Graham, SH
   Mao, XO
   He, XJ
   Nagayama, T
   Simon, RP
   Greenberg, DA
TI Bax κ, a novel Bax splice variant from ischemic rat brain lacking an ART
   domain, promotes neuronal cell death
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Article
DE Bax; cerebral ischemia; gene expression; neuron; programmed cell death
ID BCL-2 FAMILY PROTEINS; CHROMOSOMAL BREAKPOINT; UP-REGULATION;
   CYTOCHROME-C; APOPTOSIS; EXPRESSION; GENE; RELEASE; MITOCHONDRIA;
   INHIBITION
AB Bax is a pro-apoptotic Bcl-2 family protein that regulates programmed cell death through homodimerization and through heterodimerization with Bcl-2. Bax alpha is encoded by six exons and undergoes alternative splicing. Bax kappa, a splice variant of Bax with conserved BH1, BH2 and BH3 binding domains and a C-terminal transmembrane domain (TM), but with an extra 446-bp insert between exons 1 and 2 leading to loss of an N-terminal ART domain, was identified from an ischemic rat brain cDNA library. Expression of Bax kappa mRNA and protein was up-regulated in hippocampus after cerebral ischemic injury. The increased Bax kappa mRNA was distributed mainly in selectively vulnerable hippocampal CAI neurons that are destined to die after global ischemia. Overexpression of Bax kappa protein in HN33 mouse hippocampal neuronal cells induced cell death, which was partially abrogated by co-overexpression of Bcl-2. Moreover, co-overexpression of Bax kappa and Bax alpha increased HN33 cell death. The results suggest that the Bax kappa may have a role in ischemic neuronal death.
C1 Buck Inst Age Res, Novato, CA 94945 USA.
   Univ Pittsburgh, Dept Neurol, Pittsburgh, PA USA.
   Dow Neurobiol Labs, Legacy Res, Portland, OR USA.
C3 Buck Institute for Research on Aging; Pennsylvania Commonwealth System
   of Higher Education (PCSHE); University of Pittsburgh
RP Buck Inst Age Res, 8001 Redwood Blvd, Novato, CA 94945 USA.
EM kjin@buckinstitute.org
RI He, Xijing/AAE-7424-2021; Graham, Steven/AFH-9609-2022
OI He, Xijing/0000-0002-0465-5376; Graham, Steven/0000-0002-1718-2547
FU NINDS NIH HHS [NS35965] Funding Source: Medline
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NR 61
TC 21
Z9 24
U1 0
U2 6
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
EI 1471-4159
J9 J NEUROCHEM
JI J. Neurochem.
PD JUN
PY 2001
VL 77
IS 6
BP 1508
EP 1519
DI 10.1046/j.1471-4159.2001.00361.x
PG 12
WC Biochemistry & Molecular Biology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 444GU
UT WOS:000169392400008
PM 11413234
OA Bronze
DA 2025-04-10
ER

PT J
AU Wardak, H
   Tutakhel, OAZ
   Van Der Wijst, J
AF Wardak, Hila
   Tutakhel, Omar A. Z.
   Van Der Wijst, Jenny
TI Role of the alternative splice variant of NCC in blood pressure control
SO CHANNELS
LA English
DT Article
DE Kidney; NCC; signaling; splice variant; urinary extracellular vesicles
ID SODIUM-CHLORIDE COTRANSPORTER; NA-CL COTRANSPORTER; URINARY
   EXTRACELLULAR VESICLES; THIAZIDE; PHOSPHORYLATION; HYPERTENSION; SPAK;
   MUTATIONS; KINASES; WNK
AB The renal thiazide-sensitive sodium-chloride cotransporter (NCC), located in the distal convoluted tubule (DCT) of the kidney, plays an important role in blood pressure regulation by fine-tuning sodium excretion. The human SLC12A3 gene, encoding NCC, gives rise to three isoforms, of which only the third isoform (NCC3) has been extensively investigated so far. However, recent studies unraveled the importance of the isoforms 1 and 2, collectively referred to as NCC splice variant (NCCSV), in several (patho)physiological conditions. In the human kidney, NCCSV localizes to the apical membrane of the DCT and could constitute a functional route for renal sodium-chloride reabsorption. Analysis of urinary extracellular vesicles (uEVs), a non-invasive method for measuring renal responses, demonstrated that NCCSV abundance changes in response to acute water loading and correlates with patients' thiazide responsiveness. Furthermore, a novel phosphorylation site at serine 811 (S811), exclusively present in NCCSV, was shown to play an instrumental role in NCCSV as well as NCC3 function. This review aims to summarize these new insights of NCCSV function in humans that broadens the understanding on NCC regulation in blood pressure control.
C1 [Wardak, Hila; Tutakhel, Omar A. Z.; Van Der Wijst, Jenny] Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Physiol, Med Ctr, Nijmegen, Netherlands.
   [Tutakhel, Omar A. Z.] Radboud Univ Nijmegen, Dept Translat Metab Lab, Med Ctr, Nijmegen, Netherlands.
C3 Radboud University Nijmegen; Radboud University Nijmegen
RP Van Der Wijst, J (corresponding author), Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Physiol, Med Ctr, Nijmegen, Netherlands.
EM jenny.vanderwijst@radboudumc.nl
RI van der Wijst, Jenny/T-1620-2019; Tutakhel, Omar/AAW-6591-2021; van
   Asbeck-van der Wijst, Jenny/D-9726-2016
OI van Asbeck-van der Wijst, Jenny/0000-0002-1547-516X
FU FP7 People: Marie-Curie Actions [748058]; ZonMw [451001 004]; Marie
   Curie Actions (MSCA) [748058] Funding Source: Marie Curie Actions (MSCA)
FX This work was supported by the FP7 People: Marie-Curie Actions [748058];
   ZonMw [451001 004].
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NR 80
TC 3
Z9 3
U1 0
U2 3
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1933-6950
EI 1933-6969
J9 CHANNELS
JI Channels
PY 2018
VL 12
IS 1
BP 346
EP 355
DI 10.1080/19336950.2018.1528820
PG 10
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA GY6SF
UT WOS:000448724500001
PM 30264650
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Vafiadaki, E
   Arvanitis, DA
   Papalouka, V
   Terzis, G
   Roumeliotis, TI
   Spengos, K
   Garbis, SD
   Manta, P
   Kranias, EG
   Sanoudou, D
AF Vafiadaki, Elizabeth
   Arvanitis, Demetrios A.
   Papalouka, Vasiliki
   Terzis, Gerasimos
   Roumeliotis, Theodoros I.
   Spengos, Konstantinos
   Garbis, Spiros D.
   Manta, Panagiota
   Kranias, Evangelia G.
   Sanoudou, Despina
TI Muscle lim protein isoform negatively regulates striated muscle actin
   dynamics and differentiation
SO FEBS JOURNAL
LA English
DT Article
DE isoform; MLP; myotube differentiation; sarcomere; skeletal myopathy
ID DUCHENNE MUSCULAR-DYSTROPHY; SKELETAL-MUSCLE; HYPERTROPHIC
   CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; CELL-DIFFERENTIATION; DOMAIN
   PROTEINS; Z-DISC; MYOGENIC DIFFERENTIATION; INFLAMMATORY MYOPATHIES;
   CARDIAC-FUNCTION
AB Muscle lim protein (MLP) has emerged as a critical regulator of striated muscle physiology and pathophysiology. Mutations in cysteine and glycine-rich protein 3 (CSRP3), the gene encoding MLP, have been directly associated with human cardiomyopathies, whereas aberrant expression patterns are reported in human cardiac and skeletal muscle diseases. Increasing evidence suggests that MLP has an important role in both myogenic differentiation and myocyte cytoarchitecture, although the full spectrum of its intracellular roles has not been delineated. We report the discovery of an alternative splice variant of MLP, designated as MLP-b, showing distinct expression in neuromuscular disease and direct roles in actin dynamics and muscle differentiation. This novel isoform originates by alternative splicing of exons 3 and 4. At the protein level, it contains the N-terminus first half LIM domain of MLP and a unique sequence of 22 amino acids. Physiologically, it is expressed during early differentiation, whereas its overexpression reduces C2C12 differentiation and myotube formation. This may be mediated through its inhibition of MLP/cofilin- 2-mediated F-actin dynamics. In differentiated striated muscles, MLP-b localizes to the sarcomeres and binds directly to Z-disc components, including alpha-actinin, T-cap and MLP. The findings of the present study unveil a novel player in muscle physiology and pathophysiology that is implicated in myogenesis as a negative regulator of myotube formation, as well as in differentiated striated muscles as a contributor to sarcomeric integrity.
C1 [Vafiadaki, Elizabeth; Arvanitis, Demetrios A.; Papalouka, Vasiliki; Kranias, Evangelia G.; Sanoudou, Despina] Acad Athens, Biomed Res Fdn, Div Mol Biol, Athens, Greece.
   [Terzis, Gerasimos] Acad Athens, Sch Phys Educ & Sport Sci, Athlet Lab, Athens, Greece.
   [Roumeliotis, Theodoros I.; Garbis, Spiros D.] Acad Athens, Biomed Res Fdn, Div Biotechnol, Athens, Greece.
   [Roumeliotis, Theodoros I.; Garbis, Spiros D.] Univ Southampton, Sch Med, Southampton SO9 5NH, Hants, England.
   [Spengos, Konstantinos; Manta, Panagiota] Univ Athens, Sch Med, Eginit Hosp, Dept Neurol 1, GR-11527 Athens, Greece.
   [Kranias, Evangelia G.] Univ Cincinnati, Coll Med, Dept Pharmacol & Cell Biophys, Cincinnati, OH USA.
   [Sanoudou, Despina] Univ Athens, Sch Med, Dept Pharmacol, Athens, Greece.
C3 Academy of Athens; Academy of Athens; Academy of Athens; University of
   Southampton; National & Kapodistrian University of Athens; Athens
   Medical School; University System of Ohio; University of Cincinnati;
   Athens Medical School; National & Kapodistrian University of Athens
RP Sanoudou, D (corresponding author), Univ Athens, Sch Med, Dept Pharmacol, Mikras Asias 75, GR-11527 Athens, Greece.
EM dsanoudo@enders.tch.harvard.edu
RI Vafiadaki, Elizabeth/K-1171-2019; Sanoudou, Despina/AAD-8139-2019;
   Arvanitis, Demetrios/J-6434-2017; Garbis, Spiros/L-3099-2013
OI Arvanitis, Demetrios/0000-0003-1231-320X; Papalouka,
   Vasiliki/0000-0002-3226-0224; Terzis, Gerasimos/0000-0002-0049-5395;
   Garbis, Spiros/0000-0002-1050-0805; Sanoudou,
   Despina/0000-0003-3704-1941
FU Hellenic Cardiological Society; European Community's Seventh Framework
   Program FP7, EUTrigTreat [HEALTH-F2-2009-241526]
FX We are grateful to Professor Chara Spiliopoulou and Dr Stavroula
   Papadodima for providing the post-mortem muscle specimens and the
   Biological Imaging Unit at Biomedical Research Foundation for assistance
   with confocal imaging. The present study was supported by the Hellenic
   Cardiological Society. EV, DAA, EGK and DS are funded by the European
   Community's Seventh Framework Program FP7/2007-2013 under grant
   agreement no HEALTH-F2-2009-241526, EUTrigTreat.
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NR 78
TC 25
Z9 32
U1 0
U2 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1742-464X
EI 1742-4658
J9 FEBS J
JI FEBS J.
PD JUL
PY 2014
VL 281
IS 14
BP 3261
EP 3279
DI 10.1111/febs.12859
PG 19
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA AM4CU
UT WOS:000339800800013
PM 24860983
OA Green Accepted, Bronze
DA 2025-04-10
ER

PT J
AU Tarca, AL
   Romero, R
   Pique-Regi, R
   Pacora, P
   Done, B
   Kacerovsky, M
   Bhatti, G
   Jaiman, S
   Hassan, SS
   Hsu, CD
   Gomez-Lopez, N
AF Tarca, Adi L.
   Romero, Roberto
   Pique-Regi, Roger
   Pacora, Percy
   Done, Bogdan
   Kacerovsky, Marian
   Bhatti, Gaurav
   Jaiman, Sunil
   Hassan, Sonia S.
   Hsu, Chaur-Dong
   Gomez-Lopez, Nardhy
TI Amniotic fluid cell-free transcriptome: a glimpse into fetal development
   and placental cellular dynamics during normal pregnancy
SO BMC MEDICAL GENOMICS
LA English
DT Article
DE Cell-free RNA; Differential splicing; Differential expression;
   Single-cell genomic signature; Tissue-specific signature; Gestational
   age; Maternal obesity; Fetal sex
ID PRETERM PRELABOR RUPTURE; GENE-EXPRESSION ANALYSIS;
   TUMOR-NECROSIS-FACTOR; FREE MESSENGER-RNA; INTRAAMNIOTIC INFLAMMATION;
   CLINICAL-SIGNIFICANCE; MICROBIAL INVASION; SINGLE-CELL; HISTOLOGIC
   CHORIOAMNIONITIS; MATRIX METALLOPROTEINASE-8
AB Background The amniotic fluid (AF) cell-free transcriptome is modulated by physiologic and pathologic processes during pregnancy. AF gene expression changes with advancing gestation reflect fetal development and organ maturation; yet, defining normal expression and splicing patterns for biomarker discovery in obstetrics requires larger heterogeneous cohorts, evaluation of potential confounding factors, and novel analytical approaches. Methods Women with a normal pregnancy who had an AF sample collected during midtrimester (n = 30) or at term gestation (n = 68) were included. Expression profiling at exon level resolution was performed using Human Transcriptome Arrays. Differential expression was based on moderated t-test adjusted p < 0.05 and fold change > 1.25; for differential splicing, a splicing index > 2 and adjusted p < 0.05 were required. Functional profiling was used to interpret differentially expressed or spliced genes. The expression of tissue-specific and cell-type specific signatures defined by single-cell genomics was quantified and correlated with covariates. In-silico validation studies were performed using publicly available datasets. Results 1) 64,071 genes were detected in AF, with 11% of the coding and 6% of the non-coding genes being differentially expressed between midtrimester and term gestation. Expression changes were highly correlated with those previously reported (R > 0.79, p < 0.001) and featured increased expression of genes specific to the trachea, salivary glands, and lung and decreased expression of genes specific to the cardiac myocytes, uterus, and fetal liver, among others. 2) Single-cell RNA-seq signatures of the cytotrophoblast, Hofbauer cells, erythrocytes, monocytes, T and B cells, among others, showed complex patterns of modulation with gestation (adjusted p < 0.05). 3) In 17% of the genes detected, we found differential splicing with advancing gestation in genes related to brain development processes and immunity pathways, including some that were missed based on differential expression analysis alone. Conclusions This represents the largest AF transcriptomics study in normal pregnancy, reporting for the first time that single-cell genomic signatures can be tracked in the AF and display complex patterns of expression during gestation. We also demonstrate a role for alternative splicing in tissue-identity acquisition, organ development, and immune processes. The results herein may have implications for the development of fetal testing to assess placental function and fetal organ maturity.
C1 [Tarca, Adi L.; Romero, Roberto; Pique-Regi, Roger; Pacora, Percy; Done, Bogdan; Kacerovsky, Marian; Bhatti, Gaurav; Jaiman, Sunil; Hassan, Sonia S.; Hsu, Chaur-Dong; Gomez-Lopez, Nardhy] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Perinatol Res Branch, Div Obstet & Maternal Fetal Med, Div Intramural Res,NIH,US Dept HHS,NICGD,DHHS, Detroit, MI 48228 USA.
   [Tarca, Adi L.; Bhatti, Gaurav; Hassan, Sonia S.; Hsu, Chaur-Dong; Gomez-Lopez, Nardhy] Wayne State Univ, Sch Med, Dept Obstet & Gynecol, Detroit, MI 48201 USA.
   [Tarca, Adi L.; Pique-Regi, Roger; Pacora, Percy; Kacerovsky, Marian] Wayne State Univ, Coll Engn, Dept Comp Sci, Detroit, MI 48202 USA.
   [Romero, Roberto] Univ Michigan, Dept Obstet & Gynecol, Ann Arbor, MI 48109 USA.
   [Romero, Roberto] Michigan State Univ, Dept Epidemiol & Biostat, E Lansing, MI 48824 USA.
   [Romero, Roberto] Wayne State Univ, Ctr Mol Med & Genet, Detroit, MI 48202 USA.
   [Romero, Roberto] Detroit Med Ctr, Detroit, MI 48201 USA.
   [Romero, Roberto; Jaiman, Sunil] Wayne State Univ, Sch Med, Dept Pathol, Hutzel Womens Hosp, Detroit, MI 48201 USA.
   [Hassan, Sonia S.; Hsu, Chaur-Dong] Wayne State Univ, Sch Med, Dept Physiol, Detroit, MI 48201 USA.
   [Gomez-Lopez, Nardhy] Wayne State Univ, Sch Med, Dept Biochem Microbiol & Immunol, Detroit, MI 48202 USA.
C3 National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver
   National Institute of Child Health & Human Development (NICHD); Wayne
   State University; Wayne State University; University of Michigan System;
   University of Michigan; Michigan State University; Wayne State
   University; Detroit Medical Center; Wayne State University; Wayne State
   University; Wayne State University
RP Tarca, AL; Romero, R; Gomez-Lopez, N (corresponding author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Perinatol Res Branch, Div Obstet & Maternal Fetal Med, Div Intramural Res,NIH,US Dept HHS,NICGD,DHHS, Detroit, MI 48228 USA.; Tarca, AL; Gomez-Lopez, N (corresponding author), Wayne State Univ, Sch Med, Dept Obstet & Gynecol, Detroit, MI 48201 USA.; Tarca, AL (corresponding author), Wayne State Univ, Coll Engn, Dept Comp Sci, Detroit, MI 48202 USA.; Romero, R (corresponding author), Univ Michigan, Dept Obstet & Gynecol, Ann Arbor, MI 48109 USA.; Romero, R (corresponding author), Michigan State Univ, Dept Epidemiol & Biostat, E Lansing, MI 48824 USA.; Romero, R (corresponding author), Wayne State Univ, Ctr Mol Med & Genet, Detroit, MI 48202 USA.; Romero, R (corresponding author), Detroit Med Ctr, Detroit, MI 48201 USA.; Romero, R (corresponding author), Wayne State Univ, Sch Med, Dept Pathol, Hutzel Womens Hosp, Detroit, MI 48201 USA.; Gomez-Lopez, N (corresponding author), Wayne State Univ, Sch Med, Dept Biochem Microbiol & Immunol, Detroit, MI 48202 USA.
EM atarca@med.wayne.edu; prbchiefstaff@med.wayne.edu;
   nardhy.gomez-lopez@wayne.edu
RI Pique-Regi, Roger/A-4110-2009; Kacerovsky, Marian/ABE-3437-2020; Jaiman,
   Sunil/AAG-5788-2020; Romero, Roberto/JFJ-5209-2023; Romero,
   Roberto/A-5268-2019; Gomez-Lopez, Nardhy/R-7664-2016
OI Jaiman, Sunil/0000-0001-7528-1108; Romero, Roberto/0000-0002-4448-5121;
   Gomez-Lopez, Nardhy/0000-0002-3406-5262; bhatti,
   gaurav/0000-0002-8557-3347; Done, Bogdan/0000-0002-7977-3764; Tarca, Adi
   Laurentiu/0000-0003-1712-7588
FU Perinatology Research Branch, Division of Obstetrics and Maternal-Fetal
   Medicine, Division of Intramural Research, Eunice Kennedy Shriver
   National Institute of Child Health and Human Development, National
   Institutes of Health, U.S. Department of Health and; NICHD/NIH/DHHS
   [HHSN275201300006C]; Wayne State University School of Medicine Perinatal
   Initiative
FX This research was supported, in part, by the Perinatology Research
   Branch, Division of Obstetrics and Maternal-Fetal Medicine, Division of
   Intramural Research, Eunice Kennedy Shriver National Institute of Child
   Health and Human Development, National Institutes of Health, U.S.
   Department of Health and Human Services (NICHD/NIH/DHHS); and, in part,
   with Federal funds from NICHD/NIH/DHHS under Contract No.
   HHSN275201300006C. ALT and NGL were also supported by the Wayne State
   University School of Medicine Perinatal Initiative.
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NR 127
TC 25
Z9 25
U1 0
U2 4
PU BMC
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
EI 1755-8794
J9 BMC MED GENOMICS
JI BMC Med. Genomics
PD FEB 12
PY 2020
VL 13
IS 1
AR 25
DI 10.1186/s12920-020-0690-5
PG 17
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA KM7OF
UT WOS:000514329000001
PM 32050959
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Zhang, T
   Wang, F
   Xu, L
   Yang, YG
AF Zhang, Ting
   Wang, Feng
   Xu, Lu
   Yang, Yong-Guang
TI Structural-functional diversity of CD47 proteoforms
SO FRONTIERS IN IMMUNOLOGY
LA English
DT Review
DE CD47; alternative splicing; post-translational modification;
   immunotherapy; CD47-SIRPalfa; immune checkpoints; proteoform
ID INTEGRIN-ASSOCIATED PROTEIN; OVARIAN TUMOR-MARKER; T-CELL-ACTIVATION;
   IMMUNOGLOBULIN DOMAIN; MEMBRANE-PROTEIN; POOR-PROGNOSIS; SIRP-ALPHA;
   EXPRESSION; RECEPTOR; BINDING
AB The ubiquitously expressed transmembrane glycoprotein CD47 participates in various important physiological cell functions, including phagocytosis, apoptosis, proliferation, adhesion, and migration, through interactions with its ligands, including the inhibitory receptor signal regulatory protein alpha (SIRP alpha), secreted glycoprotein thrombospondin-1 (TSP-1), and integrins. Elevated expression of CD47 is observed in a wide range of cancer cells as a mechanism for evading the immune system, blocking the interaction between the CD47 and SIRP alpha is the most advanced and promising therapeutic approach currently investigated in multiple clinical trials. The widely held view that a single type of CD47 protein acts through membrane interactions has been challenged by the discovery of a large cohort of CD47 proteins with cell-, tissue-, and temporal-specific expression and functional profiles. These profiles have been derived from a single gene through alternative splicing and post-translational modifications, such as glycosylation, pyroglutamate modification, glycosaminoglycan modification, and proteolytic cleavage and, to some extent, via specific CD47 clustering in aging and tumor cells and the regulation of its subcellular localization by a pre-translational modification, alternative cleavage and polyadenylation (APA). This review explores the origins and molecular properties of CD47 proteoforms and their roles under physiological and pathological conditions, mentioning the new methods to improve the response to the therapeutic inhibition of CD47-SIRP alpha immune checkpoints, contributing to the understanding of CD47 proteoform diversity and identification of novel clinical targets and immune-related therapeutic candidates.
C1 [Zhang, Ting; Wang, Feng; Xu, Lu; Yang, Yong-Guang] First Hosp Jilin Univ, Inst Immunol, Key Lab Organ Regenerat & Transplantat, Minist Educ, Changchun, Jilin, Peoples R China.
   [Zhang, Ting; Wang, Feng; Xu, Lu; Yang, Yong-Guang] First Hosp Jilin Univ, Natl Local Joint Engn Lab Anim Models Human Dis, Changchun, Peoples R China.
   [Yang, Yong-Guang] Jilin Univ, Int Ctr Future Sci, Changchun, Jilin, Peoples R China.
C3 Jilin University; Jilin University; Jilin University
RP Yang, YG (corresponding author), First Hosp Jilin Univ, Inst Immunol, Key Lab Organ Regenerat & Transplantat, Minist Educ, Changchun, Jilin, Peoples R China.; Yang, YG (corresponding author), First Hosp Jilin Univ, Natl Local Joint Engn Lab Anim Models Human Dis, Changchun, Peoples R China.; Yang, YG (corresponding author), Jilin Univ, Int Ctr Future Sci, Changchun, Jilin, Peoples R China.
EM yongg@jlu.edu.cn
RI WANG, FENG/AAB-4911-2019; Yang, Jinfeng/GSN-6506-2022
OI Wang, Feng/0009-0004-7162-255X
FU National Key Research and Development Program of
   China10.13039/501100012166
FX No Statement Available
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NR 83
TC 4
Z9 4
U1 3
U2 14
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-3224
J9 FRONT IMMUNOL
JI Front. Immunol.
PD FEB 15
PY 2024
VL 15
AR 1329562
DI 10.3389/fimmu.2024.1329562
PG 11
WC Immunology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Immunology
GA JM7P9
UT WOS:001173653900001
PM 38426113
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Bongers, G
   Bakker, RA
   Leurs, R
AF Bongers, Gerold
   Bakker, Remko A.
   Leurs, Rob
TI Molecular aspects of the histamine H3 receptor
SO BIOCHEMICAL PHARMACOLOGY
LA English
DT Article
DE histamine H-3 receptor; pharmacology; splice variant; G protein-coupled
   receptor; signal transduction; dimerization
ID PROTEIN-COUPLED RECEPTORS; PLATELET NA+/H+ EXCHANGER; CELL-SURFACE
   EXPRESSION; PHARMACOLOGICAL CHARACTERIZATION; CONSTITUTIVE ACTIVITY;
   SYNAPTIC PLASTICITY; N-GLYCOSYLATION; ANTAGONISTS/INVERSE AGONISTS;
   NOREPINEPHRINE EXOCYTOSIS; INTRACELLULAR CALCIUM
AB The cloning of the histamine H-3 receptor (H3R) cDNA in 1999 by Lovenberg et al. [10] allowed detailed studies of its molecular aspects and indicated that the H3R can activate several signal transduction. pathways including G(i/o)-dependent inhibition of adenylyl cyclase, activation of phospholipase A(2), Akt and the mitogen activated kinase as well as the inhibition of the Na+/H+ exchanger and inhibition of K+-induced Ca2+ mobilization. Moreover, cloning of the H3R has led to the discovery several H3R isoforms generated through alternative splicing of the H3R mRNA.
   The H3R has gained the interest of many pharmaceutical companies as a potential drug target for the treatment of various important disorders like obesity, myocardial ischemia, migraine, inflammatory diseases and several CNS disorders like Alzheimer's disease, attention-deficit hyperactivity disorder and schizophrenia.
   In this paper, we review various molecular aspects of the hH(3)R including its signal transduction, dimerization and the occurrence of different H3R isoforms. (c) 2007 Elsevier Inc. All rights reserved.
C1 Free Univ Amsterdam, Leiden Amsterdam Ctr Drug Res, Dept Med Chem, NL-1081 HV Amsterdam, Netherlands.
C3 Vrije Universiteit Amsterdam; Leiden University; Leiden University -
   Excl LUMC
RP Leurs, R (corresponding author), Free Univ Amsterdam, Leiden Amsterdam Ctr Drug Res, Dept Med Chem, Boelelaan 1083, NL-1081 HV Amsterdam, Netherlands.
EM r.leurs@few.vu.nl
RI Leurs, Rob/ABB-4299-2021; Bongers, Gerold/B-6503-2013
OI Bongers, Gerold/0000-0002-3187-120X
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NR 100
TC 102
Z9 111
U1 1
U2 14
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0006-2952
EI 1873-2968
J9 BIOCHEM PHARMACOL
JI Biochem. Pharmacol.
PD APR 15
PY 2007
VL 73
IS 8
BP 1195
EP 1204
DI 10.1016/j.bcp.2007.01.008
PG 10
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA 158IO
UT WOS:000245785300016
PM 17276412
DA 2025-04-10
ER

PT J
AU Wang, X
   Xu, RZ
   Abernathey, G
   Taylor, J
   Alzghoul, MB
   Hannon, K
   Hockerman, GH
   Pond, AL
AF Wang, Xun
   Xu, Rongzuo
   Abernathey, Grant
   Taylor, Jordan
   Alzghoul, M. B.
   Hannon, Kevin
   Hockerman, Gregory H.
   Pond, Amber L.
TI Kv11.1 channel subunit composition includes MinK and varies
   developmentally in mouse cardiac muscle
SO DEVELOPMENTAL DYNAMICS
LA English
DT Article
DE Kv11.1; Merg1a; MinK channel; potassium channel; cardiac ion channel
ID RECTIFIER K+ CURRENT; I-KR; POTASSIUM CURRENT; HERG; EXPRESSION;
   MYOCYTES; GENE; CONTRIBUTES; COMPONENT; KINETICS
AB The Kv11.1 (also ERG1) K+ channel underlies cardiac I-Kr, a current that contributes to repolarization in mammalian heart. In mice, I-Kr current density decreases with development and studies suggest that changes in the structure and/or properties of the heteromultimeric I-Kr/Kv11.1 channel are responsible. Here, using immunohistochemistry, we report that total Kv11.1 alpha subunit protein is more abundant in neonatal heart and is distributed throughout both adult and neonatal ventricles with greater abundance in epicardia. Immunoblots reveal that the a subunit alternative splice variant, Kv11.1a, is more abundant in adult heart while the Kv11.1 variant is more abundant in neonatal heart. Additionally, MinK channel subunit protein is shown to co-assemble with Kv11.1 protein and is more abundant in neonatal heart. In summary, Kv11.1/I-Kr channel composition varies developmentally and the higher I-Kr current density in neonatal heart is likely attributable to higher abundance of Kv11.1/I-Kr channels, more specifically, the Kv11.1b splice variant.
C1 [Wang, Xun; Xu, Rongzuo; Abernathey, Grant; Taylor, Jordan; Hannon, Kevin; Pond, Amber L.] Purdue Univ, Sch Vet Med, Dept Basic Med Sci, W Lafayette, IN 47906 USA.
   [Alzghoul, M. B.] Jordan Univ Sci & Technol, Dept Basic Med Vet Sci, Irbid, Jordan.
   [Hockerman, Gregory H.] Purdue Univ, Dept Med Chem & Pharmacol, W Lafayette, IN 47906 USA.
C3 Purdue University System; Purdue University; Jordan University of
   Science & Technology; Purdue University System; Purdue University
RP Pond, AL (corresponding author), Purdue Univ, Sch Vet Med, Dept Basic Med Sci, 625 Harrison St,G193C Lynn Hall, W Lafayette, IN 47906 USA.
EM pond@purdue.edu
RI Alzghoul, Mohammad/ABE-8281-2021; Taylor, Jordan/ITT-2863-2023
OI Taylor, Jordan/0000-0001-9300-1229; Pond, Amber/0000-0002-2836-889X
FU American Heart Association
FX The authors thank Dr. Gail Robertson (University of Wisconsin, Madison,
   WI) for the generous gift of the Kv11.1b-specific antibody and Dr.
   Geoffrey Abbott (Cornell University) for sharing his Kv11.1
   immunoprecipitation protocol. We give special thanks to Dr. Gea-Ny Tseng
   (University of Virginia) for helpful discussions and Mr. Curt Sherwin
   for gracious help preparing images for publication. X.W. is now at the
   University of Michigan (Ann Arbor), J.T. is at the Washington University
   School of Medicine (St. Louis, MO), G.A. is at Indiana University
   (Indianapolis), and R.X. is at the University of Utah (Salt Lake City).
   A.L.P. received the supporting Scientist Development Grant from the
   American Heart Association.
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NR 36
TC 18
Z9 20
U1 0
U2 3
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1058-8388
EI 1097-0177
J9 DEV DYNAM
JI Dev. Dyn.
PD SEP
PY 2008
VL 237
IS 9
BP 2430
EP 2437
DI 10.1002/dvdy.21671
PG 8
WC Anatomy & Morphology; Developmental Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Anatomy & Morphology; Developmental Biology
GA 349OI
UT WOS:000259289800014
PM 18729211
OA Bronze
DA 2025-04-10
ER

PT J
AU Siffert, W
AF Siffert, W
TI Molecular genetics of G proteins and atherosclerosis risk
SO BASIC RESEARCH IN CARDIOLOGY
LA English
DT Review
DE signal transduction; hypertension; obesity; gene; polymorphism
ID SUBUNIT 825T ALLELE; SODIUM-PROTON EXCHANGE; ESSENTIAL-HYPERTENSION;
   BLOOD-PRESSURE; IMMORTALIZED LYMPHOBLASTS; HUMAN NEUTROPHILS; BETA-3;
   VARIANT; POLYMORPHISM; ASSOCIATION
AB Using a classical candidate gene approach, we have described a common C825T polymorphism in the gene GNB3 which encodes the ubiquitously expressed beta3 subunit of heterotrimeric G proteins. The 825T allele is associated with alternative splicing of the gene and the formation of a truncated but functionally active P3 subunit which is referred to as G beta 3s. Expression of the splice variant results in an enhanced G protein activation on stimulation of G protein-coupled receptors. Carriers of the 825T allele show an increased risk for hypertension and left ventricular hypertrophy. Homo- and heterozygous 825T allele carriers respond with a stronger decrease in blood pressure to therapy with a thiazide diuretic than homozygous 825C allele carriers. Moreover, 825T allele carriers appear to have an increased risk for obesity which appears sensible given the established role of G protein signaling in adipogenesis. The highest frequencies of the 825T allele are found in ethnicities with the highest lifestyle-dependent risk for obesity, e.g., black Africans and East Asians. This suggests that the 825T allele fulfills the criteria of a thrifty genotype.
C1 Univ Klinikum Essen, Inst Pharmacol, D-45122 Essen, Germany.
C3 University of Duisburg Essen
RP Univ Klinikum Essen, Inst Pharmacol, Hufelandstr 55, D-45122 Essen, Germany.
EM winfried.siffert@uni-essen.de
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NR 42
TC 23
Z9 25
U1 0
U2 0
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 0300-8428
EI 1435-1803
J9 BASIC RES CARDIOL
JI Basic Res. Cardiol.
PD NOV
PY 2001
VL 96
IS 6
BP 606
EP 611
DI 10.1007/s003950170012
PG 6
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 498NC
UT WOS:000172516500012
PM 11770079
DA 2025-04-10
ER

PT J
AU Murayama, R
   Kimura-Asami, M
   Togo-Ohno, M
   Yamasaki-Kato, Y
   Naruse, TK
   Yamamoto, T
   Hayashi, T
   Ai, T
   Spoonamore, KG
   Kovacs, RJ
   Vatta, M
   Iizuka, M
   Saito, M
   Wani, S
   Hiraoka, Y
   Kimura, A
   Kuroyanagi, H
AF Murayama, Rie
   Kimura-Asami, Mariko
   Togo-Ohno, Marina
   Yamasaki-Kato, Yumiko
   Naruse, Taeko K.
   Yamamoto, Takeshi
   Hayashi, Takeharu
   Ai, Tomohiko
   Spoonamore, Katherine G.
   Kovacs, Richard J.
   Vatta, Matteo
   Iizuka, Mai
   Saito, Masumi
   Wani, Shotaro
   Hiraoka, Yuichi
   Kimura, Akinori
   Kuroyanagi, Hidehito
TI Phosphorylation of the RSRSP stretch is critical for splicing regulation
   by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization
SO SCIENTIFIC REPORTS
LA English
DT Article
ID CARDIAC TITIN; DILATED CARDIOMYOPATHY; GENETIC-VARIATION; SUBNUCLEAR
   LOCALIZATION; SKELETAL-MUSCLE; MOUSE MODEL; EXPRESSION; ISOFORM;
   SEQUENCE; MUTATIONS
AB RBM20 is a major regulator of heart-specific alternative pre-mRNA splicing of TTN encoding a giant sarcomeric protein titin. Mutation in RBM20 is linked to autosomal-dominant familial dilated cardiomyopathy (DCM), yet most of the RBM20 missense mutations in familial and sporadic cases were mapped to an RSRSP stretch in an arginine/serine-rich region of which function remains unknown. In the present study, we identified an R634W missense mutation within the stretch and a G1031X nonsense mutation in cohorts of DCM patients. We demonstrate that the two serine residues in the RSRSP stretch are constitutively phosphorylated and mutations in the stretch disturb nuclear localization of RBM20. Rbm20(S637A) knock-in mouse mimicking an S635A mutation reported in a familial case showed a remarkable effect on titin isoform expression like in a patient carrying the mutation. These results revealed the function of the RSRSP stretch as a critical part of a nuclear localization signal and offer the Rbm20(S637A) mouse as a good model for in vivo study.
C1 [Murayama, Rie; Kimura-Asami, Mariko; Togo-Ohno, Marina; Yamasaki-Kato, Yumiko; Iizuka, Mai; Saito, Masumi; Wani, Shotaro; Kuroyanagi, Hidehito] TMDU, Med Res Inst, Gene Express Lab, Bunkyo Ku, Tokyo 1138510, Japan.
   [Kimura-Asami, Mariko; Togo-Ohno, Marina; Kuroyanagi, Hidehito] TMDU, Grad Sch Biomed Sci, Bunkyo Ku, Tokyo 1138510, Japan.
   [Yamasaki-Kato, Yumiko; Naruse, Taeko K.; Hayashi, Takeharu; Kimura, Akinori; Kuroyanagi, Hidehito] TMDU, Med Res Inst, Lab Integrated Res Projects Intractable Dis Adv T, Bunkyo Ku, Tokyo 1138510, Japan.
   [Naruse, Taeko K.; Hayashi, Takeharu; Ai, Tomohiko; Kimura, Akinori] TMDU, Med Res Inst, Dept Mol Pathogenesis, Bunkyo Ku, Tokyo 1138510, Japan.
   [Yamamoto, Takeshi] Yamaguchi Univ, Div Cardiol, Dept Med & Clin Sci, Grad Sch Med, Ube, Yamaguchi 7558505, Japan.
   [Ai, Tomohiko; Spoonamore, Katherine G.; Kovacs, Richard J.] Indiana Univ Sch Med, Krannert Inst Cardiol, Dept Med, Indianapolis, IN 46202 USA.
   [Vatta, Matteo] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA.
   [Hiraoka, Yuichi] TMDU, Med Res Inst, Lab Mol Neurosci, Bunkyo Ku, Tokyo 1138510, Japan.
   [Hiraoka, Yuichi] TMDU, Med Res Inst, Lab Recombinant Anim, Bunkyo Ku, Tokyo 1138510, Japan.
   [Kuroyanagi, Hidehito] Univ Calif Los Angeles, Dept Microbiol Immunol & Mol Genet, Los Angeles, CA USA.
C3 Institute of Science Tokyo; Tokyo Medical & Dental University (TMDU);
   Institute of Science Tokyo; Tokyo Medical & Dental University (TMDU);
   Institute of Science Tokyo; Tokyo Medical & Dental University (TMDU);
   Institute of Science Tokyo; Tokyo Medical & Dental University (TMDU);
   Yamaguchi University; Indiana University System; Indiana University
   Bloomington; Indiana University System; Indiana University Bloomington;
   Institute of Science Tokyo; Tokyo Medical & Dental University (TMDU);
   Institute of Science Tokyo; Tokyo Medical & Dental University (TMDU);
   University of California System; University of California Los Angeles
RP Kuroyanagi, H (corresponding author), TMDU, Med Res Inst, Gene Express Lab, Bunkyo Ku, Tokyo 1138510, Japan.; Kuroyanagi, H (corresponding author), TMDU, Grad Sch Biomed Sci, Bunkyo Ku, Tokyo 1138510, Japan.; Kimura, A; Kuroyanagi, H (corresponding author), TMDU, Med Res Inst, Lab Integrated Res Projects Intractable Dis Adv T, Bunkyo Ku, Tokyo 1138510, Japan.; Kimura, A (corresponding author), TMDU, Med Res Inst, Dept Mol Pathogenesis, Bunkyo Ku, Tokyo 1138510, Japan.; Kuroyanagi, H (corresponding author), Univ Calif Los Angeles, Dept Microbiol Immunol & Mol Genet, Los Angeles, CA USA.
EM akitis@mri.tmd.ac.jp; kuroyana.end@tmd.ac.jp
RI Naruse, Taeko/ABA-3089-2021; Ai, Tomohiko/HTP-9344-2023; Kimura,
   Akinori/I-5989-2018
OI Ai, Tomohiko/0000-0003-0376-0227; Hayashi, Takeharu/0000-0002-4222-9888
FU Japan Society for the Promotion of Science (JSPS) [JP26670398,
   JP15K15095 JP16H05296, JP15H01350, JP17H05596, JP17H03633, JP15KK0252];
   Takeda Science Foundation; Tokyo Medical and Dental University (TMDU);
   Nanken-Kyoten, TMDU; Grants-in-Aid for Scientific Research [15H01350,
   15KK0252] Funding Source: KAKEN
FX We thank Ms. Takako Usami, Harumi Ishikubo and Nana Ohkubo for their
   excellent technical assistance in the experiments. We are also grateful
   to Douglas L. Black of UCLA and Hiroaki Iwasa and Takeshi Watanabe of
   TMDU for critically reading the manuscript. This study was supported by
   Grants-in-Aid for Scientific Research (KAKENHI, Grant Numbers
   JP26670398, JP15K15095 JP16H05296, JP15H01350, JP17H05596, JP17H03633
   and JP15KK0252) from Japan Society for the Promotion of Science (JSPS)
   (to HK and AK) and a grant from Takeda Science Foundation (to HK). This
   study was also supported by a supporting program for women researchers
   from Tokyo Medical and Dental University (TMDU) and Nanken-Kyoten, TMDU.
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NR 69
TC 41
Z9 44
U1 0
U2 4
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD JUN 12
PY 2018
VL 8
AR 8970
DI 10.1038/s41598-018-26624-w
PG 14
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA GJ0EI
UT WOS:000434920800014
PM 29895960
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Ferlini, A
   Sewry, C
   Melis, MA
   Mateddu, A
   Muntoni, F
AF Ferlini, A
   Sewry, C
   Melis, MA
   Mateddu, A
   Muntoni, F
TI X-linked dilated cardiomyopathy and the dystrophin gene
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE dystrophin gene; cardiac muscle; skeletal muscle; protein domain;
   epitope; exon; intron; splicing
ID DUCHENNE MUSCULAR-DYSTROPHY; SKELETAL-MUSCLE; L1 ELEMENT; DMD GENE;
   MUTATION; BRAIN; INSERTION; PROMOTER; REGION; DEFICIENCY
AB X-linked dilated cardiomyopathy (XLDC) represents a well known genetic disease, allelic to Duchenne and Pecker muscular dystrophies and caused by dystrophin gene mutations. XLDC is a rare disease and only few families have been fully characterised. In several of them, the dystrophin mutations show a different pattern of expression in cardiac compared to skeletal muscle. In the families with the most severe cardiac phenotype, the cardiac muscle is usually unable to produce dystrophin, due to a specific effect that the mutation(s) have on the gene transcription in this tissue. The skeletal muscle escapes the dystrophic changes by maintaining dystrophin synthesis via exon skipping or alternative splicing that the heart is not able to put in place. In this paper we have reviewed the families with X-linked dilated cardiomyopathy reported so far; in addition we provided novel transcription data on two families we previously described. The aim of this review is to attempt a genotype-phenotype correlation and speculate on common pathogenic mechanisms underlying this disease. (C) 1999 Elsevier Science B.V. All rights reserved.
C1 Univ London Imperial Coll Sci Technol & Med, Dept Paediat & Neonatal Med, London W12 0NN, England.
   Hammersmith Hosp, MRC, Muscle Cell Biol Grp, Ctr Clin Sci, London, England.
   Ist Clin & Biol Eta Evolut, Cagliari, Italy.
   Univ Cagliari, Cagliari, Italy.
C3 Imperial College London; Imperial College London; University of Cagliari
RP Ferlini, A (corresponding author), Univ London Imperial Coll Sci Technol & Med, Dept Paediat & Neonatal Med, Hammersmith Campus,Du Cane Rd, London W12 0NN, England.
RI FERLINI, ALESSANDRA/K-7532-2016
OI FERLINI, ALESSANDRA/0000-0001-8385-9870
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NR 39
TC 81
Z9 90
U1 0
U2 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD JUL
PY 1999
VL 9
IS 5
BP 339
EP 346
DI 10.1016/S0960-8966(99)00015-2
PG 8
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 212DU
UT WOS:000081202300010
PM 10407857
DA 2025-04-10
ER

PT J
AU Hoersch, S
   Andrade-Navarro, MA
AF Hoersch, Sebastian
   Andrade-Navarro, Miguel A.
TI Periostin shows increased evolutionary plasticity in its alternatively
   spliced region
SO BMC EVOLUTIONARY BIOLOGY
LA English
DT Article
ID OSTEOBLAST-SPECIFIC FACTOR; BETA-INDUCED GENE; CARDIAC DEVELOPMENT;
   PROTEIN EXPRESSION; GENOME BROWSER; COLON-CANCER; FASCICLIN-I; PROMOTES;
   GROWTH; IDENTIFICATION
AB Background: Periostin (POSTN) is a secreted extracellular matrix protein of poorly defined function that has been related to bone and heart development as well as to cancer. In human and mouse, it is known to undergo alternative splicing in its C-terminal region, which is devoid of known protein domains. Differential expression of periostin, sometimes of specific splicing isoforms, is observed in a broad range of human cancers, including breast, pancreatic, and colon cancer. Here, we combine genomic and transcriptomic sequence data from vertebrate organisms to study the evolution of periostin and particularly of its C-terminal region.
   Results: We found that the C-terminal part of periostin is markedly more variable among vertebrates than the rest of periostin in terms of exon count, length, and splicing pattern, which we interpret as a consequence of neofunctionalization after the split between periostin and its paralog transforming growth factor, beta-induced (TGFBI). We also defined periostin's sequential 13-amino acid repeat units - well conserved in teleost fish, but more obscure in higher vertebrates - whose secondary structure is predicted to be consecutive beta strands. We suggest that these beta strands may mediate binding interactions with other proteins through an extended beta-zipper in a manner similar to the way repeat units in bacterial cell wall proteins have been reported to bind human fibronectin.
   Conclusions: Our results, obtained with the help of the increasingly large collection of complete vertebrate genomes, document the evolutionary plasticity of periostin's C-terminal region, and for the first time suggest a basis for its functional role.
C1 [Hoersch, Sebastian] MIT, Koch Inst Integrat Canc Res, Cambridge, MA 02139 USA.
   [Hoersch, Sebastian] Max Delbruck Ctr Mol Med, Bioinformat Grp, D-13125 Berlin, Germany.
   [Andrade-Navarro, Miguel A.] Max Delbruck Ctr Mol Med, Computat Biol & Data Min Grp, D-13125 Berlin, Germany.
C3 Massachusetts Institute of Technology (MIT); Helmholtz Association; Max
   Delbruck Center for Molecular Medicine; Helmholtz Association; Max
   Delbruck Center for Molecular Medicine
RP Hoersch, S (corresponding author), MIT, Koch Inst Integrat Canc Res, 77 Massachusetts Ave, Cambridge, MA 02139 USA.
EM hoersch@mit.edu
RI Andrade, Miguel/B-6565-2008
OI Andrade, Miguel/0000-0001-6650-1711
FU Helmholtz Alliance on Systems Biology (Helmholtz-Gemeinschaft Deutscher
   Forschungszentren); EPSCoR; Office Of The Director [0814251] Funding
   Source: National Science Foundation
FX The authors thank Charles A. Whittaker and GuangJun Zhang (both at the
   Koch Institute for Integrative Cancer Research at MIT, Cambridge, USA)
   for helpful discussions and Barbara Bryant for critical reading of the
   manuscript. MAA acknowledges funding from the Helmholtz Alliance on
   Systems Biology (Helmholtz-Gemeinschaft Deutscher Forschungszentren)
   (including funding for open access charge).
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NR 84
TC 92
Z9 112
U1 0
U2 11
PU BMC
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-2148
J9 BMC EVOL BIOL
JI BMC Evol. Biol.
PD JAN 28
PY 2010
VL 10
AR 30
DI 10.1186/1471-2148-10-30
PG 19
WC Evolutionary Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Evolutionary Biology; Genetics & Heredity
GA 556WM
UT WOS:000274624000001
PM 20109226
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Khananshvili, D
AF Khananshvili, Daniel
TI Basic and editing mechanisms underlying ion transport and regulation in
   NCX variants
SO CELL CALCIUM
LA English
DT Article
DE NCX; Sodium-calcium exchanger; Ion transport mechanisms; Na+ and Ca2+
   binding sites; Ion selectivity; Alternating access; Allosteric
   regulation; Alternative splicing; Antiporter
ID SODIUM-CALCIUM EXCHANGER; ALTERNATIVELY SPLICED ISOFORMS; CARDIAC
   NA+-CA2+ EXCHANGE; 2ND CA2+-BINDING DOMAIN; CA2+ BINDING DOMAINS;
   NA+/CA2+ EXCHANGER; ALLOSTERIC REGULATION; STRUCTURAL BASIS; MOLECULAR
   DETERMINANTS; EQUILIBRIUM PROPERTIES
AB Structure-dynamic analysis of archaeal NCX (NCX_Mj) provided new insights into the underlying mechanisms of ion selectivity, ion-coupled alternating access, ion occlusion, and transport catalysis. This knowledge is relevant, not only for prokaryotic and eukaryotic NCXs, but also for other families belonging to the superfamily of Ca2+/CA antiporters. In parallel with the ion transport mechanisms, the structure-dynamic determinants of regulatory CBD1 and CBD2 domains have been resolved according to which the Ca2+-induced allosteric signal is decoded at the two-domain interface and "secondarily' modified by a splicing segment at CBD2. The exon-dependent combinations within the splicing segment control the number of Ca2+ binding sites (from zero to three) at CBD2, as well as the Ca2+ binding affinity and Ca2+ off-rates at both CBDs. The exon-dependent combinations specifically rigidify the local segments at CBDs, yielding the Ca2+ -dependent activation (through Ca2+ binding to CBD1) and Ca2+-dependent alleviation of Na+ -induced inactivation (through Ca2+ binding with CBD2). The exon-dependent synergistic interactions between CBDs characteristically differ in NCX1 and NCX3, thereby underscoring the physiological relevance of structure-controlled shaping of ion-dependent regulation in tissuespecific NCX variants. How the ion-dependent regulatory modules operate in conjunction with other regulators (PIP2, palmitoylation, XIP, among the others) of NCX is an open question that remains to be determined.
C1 [Khananshvili, Daniel] Tel Aviv Univ, Sackler Fac Med, Dept Physiol & Pharmacol, IL-69978 Tel Aviv, Israel.
C3 Tel Aviv University; Sackler Faculty of Medicine
RP Khananshvili, D (corresponding author), Tel Aviv Univ, Sackler Fac Med, Dept Physiol & Pharmacol, IL-69978 Tel Aviv, Israel.
EM dhanan@post.tau.ac.il
FU Israel Science Foundation [1351/18]; Shmuel Shalit award
FX This work was supported by the Israel Science Foundation (Grant #1351/18
   to D.K.) The financial support from the Shmuel Shalit award to DK is
   gratefully acknowledged.
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NR 94
TC 27
Z9 30
U1 0
U2 4
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0143-4160
EI 1532-1991
J9 CELL CALCIUM
JI Cell Calcium
PD JAN
PY 2020
VL 85
AR 102131
DI 10.1016/j.ceca.2019.102131
PG 14
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA JV8DM
UT WOS:000502590100002
PM 31794905
DA 2025-04-10
ER

PT J
AU Dunn, DM
   Ishigami, T
   Pankow, J
   von Niederhausern, A
   Alder, J
   Hunt, SC
   Leppert, MF
   Lalouel, JM
   Weiss, RB
AF Dunn, DM
   Ishigami, T
   Pankow, J
   von Niederhausern, A
   Alder, J
   Hunt, SC
   Leppert, MF
   Lalouel, JM
   Weiss, RB
TI Common variant of human NEDD4L activates a cryptic splice site to form a
   frameshifted transcript
SO JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE NEDD4L; hypertension; common variants; aberrant splicing; kidney
ID EPITHELIAL NA+ CHANNEL; BLOOD-PRESSURE; C2 DOMAIN; CYCLIN D1; LIPID
   RAFTS; WW DOMAINS; UBIQUITIN; VIRUS; HYPERTENSION; INFORMATION
AB The ubiquitin ligase NEDD4L is a candidate gene for essential hypertension on both functional and genetic grounds. By targeting the epithelial sodium channel (ENaC) for degradation, NEDD4L is a significant determinant of sodium reabsorption in the distal nephron. Genetic linkage has been reported to a region of chromosome 18q harboring the gene, with phenotypes that include a rare orthostatic hypotension disorder, essential hypertension, and postural change in systolic blood pressure. A systematic search for genetic polymorphisms by resequencing exons and intron boundaries in 48 Caucasians yielded 38 variants. Among these, variant 13 is common, with either G (70%) or A (30%) as the last nucleotide of a putative exon 1. This mutation could affect the generation of a previously unrecognized splice isoform. In subsequent experiments, (1) we confirmed the presence of this putative isoform in both kidney and adrenals; (2) we established that variant 13-A leads to the systematic use of an alternative splice site, generating a transcript encoding a nonfunctional protein; and (3) we demonstrated differences in tissue-specific expression of the novel isoform relative to its previously reported counterpart. Variant 13-A precludes the formation of a transcript encoding a full-length Ca2+-dependent lipid-binding (C2) domain with very high evolutionary conservation among NEDD4L orthologs. A similar C2 domain in the paralogous NEDD4 gene plays a significant role in the transfer of its product to the apical membrane of epithelial cells. Differential function of NEDD4L isoforms could prove significant in blood pressure regulation through an effect on ENaC-dependent sodium reabsorption.
C1 Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA.
   Univ Minnesota, Sch Publ Hlth, Div Epidemiol, Minneapolis, MN 55455 USA.
   Univ Utah, Dept Internal Med, Cardiovasc Genet Res Clin, Salt Lake City, UT 84112 USA.
C3 Utah System of Higher Education; University of Utah; University of
   Minnesota System; University of Minnesota Twin Cities; Utah System of
   Higher Education; University of Utah
RP Univ Utah, Dept Human Genet, Rm 308 BPRB,20 South 2030 East, Salt Lake City, UT 84112 USA.
EM bob.weiss@genetics.utah.edu
RI Alder, Jonathan/AAF-3540-2020
OI Pankow, James/0000-0001-7076-483X; Alder, Jonathan/0000-0003-3741-6512
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NR 45
TC 67
Z9 73
U1 0
U2 6
PU SPRINGERNATURE
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON, N1 9XW, ENGLAND
SN 1434-5161
EI 1435-232X
J9 J HUM GENET
JI J. Hum. Genet.
PY 2002
VL 47
IS 12
BP 665
EP 676
DI 10.1007/s100380200102
PG 12
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 629BE
UT WOS:000180029900005
PM 12522688
OA Bronze
DA 2025-04-10
ER

PT J
AU Belaguli, NS
   Zhou, W
   Trinh, THT
   Majesky, MW
   Schwartz, RJ
AF Belaguli, NS
   Zhou, W
   Trinh, THT
   Majesky, MW
   Schwartz, RJ
TI Dominant negative murine serum response factor: Alternative splicing
   within the activation domain inhibits transactivation of serum response
   factor binding targets
SO MOLECULAR AND CELLULAR BIOLOGY
LA English
DT Article
ID BOX TRANSCRIPTION FACTORS; ACTIN GENE-TRANSCRIPTION; MUSCLE-CELLS;
   EXPRESSION; ISOFORMS; DNA; DIFFERENTIATION; PROTEIN; INDUCTION; GROWTH
AB Primary transcripts encoding the MADS box superfamily of proteins, such as MEF2 in animals and ZEMa in plants, are alternatively spliced, producing several isoformic species. We show here that murine serum response factor (SRF) primary RNA transcripts are alternatively spliced at the fifth exon, deleting approximately one-third of the C-terminal activation domain. Among the different muscle types examined, visceral smooth muscles have a very low ratio of SRF Delta 5 to SRF. Increased levels of SRF Delta 5 correlates well with reduced smooth muscle contractile gene activity within the elastic aortic arch, suggesting important biological roles for differential expression of SRF Delta 5 variant relative to wild-type SRF. SRF Delta 5 forms DNA binding-competent homodimers and heterodimers. SRF Delta 5 acts as a naturally occurring dominant negative regulatory mutant that blocks SRF-dependent skeletal alpha-actin, cardiac alpha-actin, smooth alpha-actin, SM22 alpha, and SRF promoter-luciferase reporter activities. Expression of SRF Delta 5 interferes with differentiation of myogenic C2C12 cells and the appearance of skeletal alpha-actin and myogenin mRNAs. SRF Delta 5 repressed the serum-induced activity of the c-fos serum response element. SRF Delta 5 fused to the yeast Gal4 DNA binding domain displayed low transcriptional activity, which was complemented by overexpression of the coactivator ATF6. These results indicate that the absence of exon 5 might be bypassed through recruitment of transcription factors that interact with extra-exon 5 regions in the transcriptional activating domain. The novel alternatively spliced isoform of SRF, SRF Delta 5, may play an important regulatory role in modulating SRF-dependent gene expression.
C1 Baylor Coll Med, Dept Cell Biol, Houston, TX 77030 USA.
   Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine
RP Schwartz, RJ (corresponding author), Baylor Coll Med, Dept Cell Biol, 1 Baylor Plaza, Houston, TX 77030 USA.
RI Trinh, Tinh/JNE-6374-2023; Schwartz, Robert/MAH-8785-2025
FU NHLBI NIH HHS [P01HL49953, P01 HL049953] Funding Source: Medline
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NR 64
TC 84
Z9 94
U1 0
U2 0
PU AMER SOC MICROBIOLOGY
PI WASHINGTON
PA 1325 MASSACHUSETTS AVENUE, NW, WASHINGTON, DC 20005-4171 USA
SN 0270-7306
J9 MOL CELL BIOL
JI Mol. Cell. Biol.
PD JUL
PY 1999
VL 19
IS 7
BP 4582
EP 4591
PG 10
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 207TR
UT WOS:000080952300005
PM 10373507
DA 2025-04-10
ER

PT J
AU Forner, F
   Furlan, S
   Salvatori, S
AF Forner, Francesca
   Furlan, Sandra
   Salvatori, Sergio
TI Mass spectrometry analysis of complexes formed by myotonic dystrophy
   protein kinase (DMPK)
SO BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
LA English
DT Article
DE DMPK; Protein-protein interaction; Mass spectrometry; Non-denaturing
   electrophoresis; Co-immunoprecipitation; alpha B-crystallin/HSPB5;
   HSP25/HSPB1
ID RABBIT SKELETAL-MUSCLE; HEAT-SHOCK PROTEINS; ALPHA-B-CRYSTALLIN; REPEAT
   TRANSCRIPTS; RYANODINE RECEPTOR; NUCLEAR FOCI; RNA; PHOSPHORYLATES;
   SUBSTRATE; ISOFORMS
AB Myotonic dystrophy type 1 (DM1) is caused by an expansion of CTG repeats at the 3'-UTR of the serine/threonine protein kinase DMPK. Expanded CTG repeats are toxic since they are transcribed into an RNA molecule which is then sequestered within the nucleus in the form of foci. RNA cytotoxicity is linked to the aberrant splicing of several developmentally regulated genes. DMPK transcripts undergo alternative splicing giving rise to many isoforms but do not seem to be involved in the splicing dysregulation of DM1. However, decreased levels of DMPK in DM1 patients and DMPK involvement in muscle weakness and cardiac dysfunction in animal models have been reported. The variability in phenotypic expression of DMPK together with its differential subcellular targeting, suggests that different splicing isoforms may be involved in different signalling pathways, possibly through DMPK-interacting proteins. To gain better insight into the DMPK function, we used mass spectrometry to identify proteins co-segregating with DMPK in soluble complexes isolated from high-speed supernatant of rat muscles. We carried out experiments with native DMPK to preserve the physiological stoichiometry with potential partners. DMPK-containing complexes were isolated and immuno-detected by non-denaturing electrophoresis, gel filtration, ionic-exchange chromatography and immunoprecipitation. DMPK peptides were identified by high-resolution mass spectrometry together with several putative DMPK-binding proteins, including several heat shock proteins such as HSP20/HSPB6, HSP60/CPN60, HSP70 and HSP90. We also obtained evidence of a direct interaction of DMPK with alpha beta-crystallin/HSPB5 and HSP25/HSPB1. (C) 2010 Elsevier B.V. All rights reserved.
C1 [Salvatori, Sergio] Univ Padua, Dept Expt Biomed Sci, I-35131 Padua, Italy.
   [Forner, Francesca] Max Planck Inst Biochem, Dept Prote & Signal Transduct, D-82152 Martinsried, Germany.
   [Furlan, Sandra] CNR, Inst Neurosci, I-35131 Padua, Italy.
C3 University of Padua; Max Planck Society; Consiglio Nazionale delle
   Ricerche (CNR)
RP Salvatori, S (corresponding author), Univ Padua, Dept Expt Biomed Sci, Viale G Colombo 3, I-35131 Padua, Italy.
EM sergio.salvatori@unipd.it
OI furlan, sandra/0000-0002-6366-3552
FU Ministero dell'Universita e della Ricerca
FX This work was supported by grants from the Ministero dell'Universita e
   della Ricerca to S.S. We are grateful to Prof. M. Mann for enabling the
   use of mass spectrometers in his laboratory at the Max Planck Institute.
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NR 49
TC 5
Z9 6
U1 0
U2 5
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 1570-9639
EI 1878-1454
J9 BBA-PROTEINS PROTEOM
JI BBA-Proteins Proteomics
PD JUN
PY 2010
VL 1804
IS 6
BP 1334
EP 1341
DI 10.1016/j.bbapap.2010.02.011
PG 8
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 590IQ
UT WOS:000277219300009
PM 20188867
DA 2025-04-10
ER

PT J
AU Sztainberg, Y
   Kuperman, Y
   Issler, O
   Gil, S
   Vaughan, J
   Rivier, J
   Vale, W
   Chen, A
AF Sztainberg, Yehezkel
   Kuperman, Yael
   Issler, Orna
   Gil, Shosh
   Vaughan, Joan
   Rivier, Jean
   Vale, Wylie
   Chen, Alon
TI A novel corticotropin-releasing factor receptor splice variant exhibits
   dominant negative activity: a putative link to stress-induced heart
   disease
SO FASEB JOURNAL
LA English
DT Article
DE cardiovascular disease; urocortins; isoform; alternative splicing; ER
   retention
ID MESSENGER-RNA EXPRESSION; RAT CARDIOVASCULAR-SYSTEM; HORMONE-RECEPTOR;
   ENDOPLASMIC-RETICULUM; REPERFUSION INJURY; HIV-1 INFECTION; TYPE-2
   RECEPTOR; SKELETAL-MUSCLE; CRF RECEPTORS; UROCORTIN-III
AB A growing body of experimental and clinical studies supports a strong association between psychological stress and cardiovascular disease. An important endogenous cardioprotective role in heart physiology has been attributed to corticotropin-releasing factor receptor type 2 beta(CRFR2 beta). Here, we report the isolation of cDNA from mouse (m) heart encoding a novel CRFR2 beta splice variant. Translation of this insertion variant (iv)-mCRFR2 beta isoform produces a 421-aa protein that includes a unique C-terminal cytoplasmic tail. Our functional analysis and cellular localization studies demonstrated that when coexpressed with wild-type mCRFR2 beta, iv-mCRFR2 beta significantly inhibited the wild-type mCRFR2 beta membrane expression and its functional signaling by ER-Golgi complex retention, suggesting a dose-dependent dominant negative effect. Interestingly, mice exposed to a 4-wk paradigm of chronic variable stress, a model of chronic psychological stress in humans, presented significantly lower levels of mCRFR2 beta and higher levels of iv-mCRFR2 beta mRNA expression in their hearts, compared to nonstressed control mice. The dominant-negative effect of iv-mCRFR2 beta and its up-regulation by psychological stress suggest a new form of regulation of the mCRFR2 beta cardioprotective effect and a potential role for this novel isoform in stress-induced heart disease.-Sztainberg, Y., Kuperman, Y., Issler, O., Gil, S., Vaughan, J., Rivier, J., Vale, W., Chen, A. A novel corticotropin-releasing factor receptor splice variant exhibits dominant negative activity: a putative link to stress-induced heart disease. FASEB J. 23, 2186-2196 (2009)
C1 [Sztainberg, Yehezkel; Kuperman, Yael; Issler, Orna; Gil, Shosh; Chen, Alon] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel.
   [Sztainberg, Yehezkel] Bar Ilan Univ, Leslie & Susan Gonda Goldschmied Multidisciplinar, Ramat Gan, Israel.
   [Vaughan, Joan; Rivier, Jean; Vale, Wylie] Salk Inst Biol Studies, Clayton Fdn Labs Peptide Biol, La Jolla, CA 92037 USA.
C3 Weizmann Institute of Science; Bar Ilan University; Salk Institute
RP Chen, A (corresponding author), Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel.
EM alon.chen@weizmann.ac.il
OI Chen, Alon/0000-0003-3625-8233; Issler, Orna/0000-0003-1473-8295
FU NIDDK NIH HHS [5P01DK026741-29, P01 DK026741] Funding Source: Medline
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NR 66
TC 21
Z9 22
U1 0
U2 3
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
EI 1530-6860
J9 FASEB J
JI Faseb J.
PD JUL
PY 2009
VL 23
IS 7
BP 2186
EP 2196
DI 10.1096/fj.08-128066
PG 11
WC Biochemistry & Molecular Biology; Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
   Topics; Cell Biology
GA 481UC
UT WOS:000268836500018
PM 19246489
OA Green Published
DA 2025-04-10
ER

PT J
AU Ilagan, RM
   Genheimer, CW
   Quinlan, SF
   Guthrie, KI
   Sangha, N
   Ramachandrannair, S
   Kelley, RW
   Presnell, SC
   Basu, J
   Ludlow, JW
AF Ilagan, Roger M.
   Genheimer, Christopher W.
   Quinlan, Sarah F.
   Guthrie, Kelly I.
   Sangha, Namrata
   Ramachandrannair, Sajini
   Kelley, Rusty W.
   Presnell, Sharon C.
   Basu, Joydeep
   Ludlow, John W.
TI Smooth Muscle Phenotypic Diversity Is Mediated Through Alterations in
   Myocardin Gene Splicing
SO JOURNAL OF CELLULAR PHYSIOLOGY
LA English
DT Article
ID SERUM RESPONSE FACTOR; GLYCOGEN-SYNTHASE KINASE-3; TERNARY COMPLEX
   FACTORS; CELL DIFFERENTIATION; TRANSCRIPTIONAL COACTIVATORS; DEPENDENT
   TRANSCRIPTION; OUTLET OBSTRUCTION; FORCED EXPRESSION; C-FOS;
   PHOSPHORYLATION
AB Myocardin (MYOCD) is a smooth and cardiac muscle-specific transcriptional coactivator that is required for the proper expression of contraction-related genes. Through its function to transactivate effector genes, MYOCD plays an essential role in mediating the switch between contractile and non-contractile phenotypes, particularly in smooth muscle cells (SMC). There are at least two known transcript variants of MYOCD that are expressed in SMC, differing only by the presence (+) or absence (Delta) of Exon 11. To date, no functional role has been assigned to the domain encoded by Exon 11, nor have any notable differences between the ability of each isoform to activate contraction-related genes been observed. In this study we compared sequences for Exon 11 among several mammalian species and identified a highly conserved, putative target sequence for glycogen synthase kinase 3 (GSK3) phosphorylation, suggesting a regulatory role for Exon 11 that can be modulated by alternative splicing. The function of Exon 11 was investigated by altering MYOCD splice selection in cultured porcine SMC with small interfering RNAs (siRNA) and specific chemical inhibitors, resulting in a relative increase in expression of Delta Exon 11 variants in the endogenous pool of MYOCD mRNA. The relative increase in Delta Exon 11 mRNAs correlated with a reduction of contractile phenotype in the porcine SMC as evidenced by morphological assessment and molecular analysis of effector genes. Together, these data suggest that MYOCD Delta Exon 11 may participate in modulating SMC phenotype, potentially acting as a dominant-negative repressor of contraction-related genes. J. Cell. Physiol. 226: 2702-2711, 2011. (C) 2010 Wiley-Liss, Inc.
C1 [Ilagan, Roger M.; Genheimer, Christopher W.; Quinlan, Sarah F.; Guthrie, Kelly I.; Sangha, Namrata; Ramachandrannair, Sajini; Kelley, Rusty W.; Presnell, Sharon C.; Basu, Joydeep; Ludlow, John W.] Tengion Inc, Sci & Technol, Winston Salem, NC 27103 USA.
RP Ilagan, RM (corresponding author), Tengion Inc, Sci & Technol, 3929 Westpoint Blvd,Suite G, Winston Salem, NC 27103 USA.
EM roger.ilagan@tengion.com
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NR 66
TC 11
Z9 11
U1 0
U2 1
PU WILEY-BLACKWELL
PI MALDEN
PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA
SN 0021-9541
J9 J CELL PHYSIOL
JI J. Cell. Physiol.
PD OCT
PY 2011
VL 226
IS 10
BP 2702
EP 2711
DI 10.1002/jcp.22622
PG 10
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA 811MF
UT WOS:000294214400028
PM 21792927
DA 2025-04-10
ER

PT J
AU Parent, JL
   Labrecque, P
   Orsini, MJ
   Benovic, JL
AF Parent, JL
   Labrecque, P
   Orsini, MJ
   Benovic, JL
TI Internalization of the TXA2 receptor α and β isoforms -: Role
   of the differentially spliced COOH terminus in agonist-promoted receptor
   internalization
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID MUSCARINIC ACETYLCHOLINE-RECEPTOR; PROTEIN-COUPLED RECEPTORS;
   THROMBOXANE A(2) RECEPTOR; PLATELET-ACTIVATING-FACTOR;
   BETA(2)-ADRENERGIC RECEPTOR; CYTOPLASMIC TAIL; ALPHA(2)-ADRENERGIC
   RECEPTORS; HOMOLOGOUS DESENSITIZATION; INTRACELLULAR TRAFFICKING;
   CHOLINERGIC RECEPTORS
AB Thromboxane A(2) (TXA(2)) potently stimulates platelet aggregation and smooth muscle constriction and is thought to play a role in myocardial infarction, atherosclerosis, and bronchial asthma, The TXA(2) receptor (TXA(2)R) is a member of the G protein-coupled receptor family and is found as two alternatively spliced isoforms, alpha (343 residues) and beta (407 residues), which share the first 328 residues. In the present report, we demonstrate by enzyme-linked immunosorbent assay and immunofluorescence microscopy that the TXA(2)R beta, but not the TXA(2)R alpha, undergoes agonist-induced internalization when expressed in HEK293 cells as well as several other cell types. Various dominant negative mutants were used to demonstrate that the internalization of the TXA(2)R beta is dynamin-, GRK-, and arrestin-dependent in HEK293 cells, suggesting the involvement of receptor phosphorylation and clathrin-coated pits in this process. Interestingly, the agonist-stimulated internalization of both the alpha and beta isoforms, but not of a mutant truncated after residue 328, can be promoted by overexpression of arrestin-3, identifying the C-tails of both receptors as necessary in arrestin-3 interaction, Simultaneous mutation of two dileucine motifs in the C-tail of TXA(2)R beta did not affect agonist-promoted internalization. Analysis of various C-tail deletion mutants revealed that a region between residues 355 and 366 of the TXA(2)R beta is essential for agonist-promoted internalization. These data demonstrate that alternative splicing of the TXA(2)R plays a critical role in regulating arrestin binding and subsequent receptor internalization.
C1 Thomas Jefferson Univ, Kimmel Canc Ctr, Dept Microbiol & Immunol, Philadelphia, PA 19107 USA.
C3 Thomas Jefferson University
RP Thomas Jefferson Univ, Kimmel Canc Ctr, Dept Microbiol & Immunol, 233 S 10th St, Philadelphia, PA 19107 USA.
EM benovic@lac.jci.tju.edu
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NR 80
TC 171
Z9 187
U1 0
U2 0
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD MAR 26
PY 1999
VL 274
IS 13
BP 8941
EP 8948
DI 10.1074/jbc.274.13.8941
PG 8
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 181PV
UT WOS:000079451600081
PM 10085139
OA hybrid
DA 2025-04-10
ER

PT J
AU Leppert, U
   Eisenreich, A
AF Leppert, Ulrike
   Eisenreich, Andreas
TI The role of tissue factor isoforms in cancer biology
SO INTERNATIONAL JOURNAL OF CANCER
LA English
DT Review
DE tissue factor; alternative splicing; thrombogenicity; angiogenesis;
   tumorigenesis; lung cancer; cancer biology
ID HUMAN ENDOTHELIAL-CELLS; SMOOTH-MUSCLE-CELLS; DNA TOPOISOMERASE-I;
   FACTOR EXPRESSION; PROCOAGULANT ACTIVITY; BREAST-CANCER; TUMOR-GROWTH;
   COAGULATION ACTIVATION; CDC2-LIKE KINASES; PATHWAY
AB Tissue Factor (TF) is an evolutionary conserved glycoprotein, which is of immense importance for a variety of biologic processes. TF is expressed in two naturally occurring protein isoforms, membrane-bound full-length (fl)TF and soluble alternatively spliced (as)TF. The TF isoform expression is differentially modulated on post-transcriptional level via regulatory factors, such as serine/arginine-rich (SR) proteins, SR protein kinases and micro (mi)RNAs. Both isoforms mediate a variety of physiologic- and pathophysiologic-relevant functions, such as thrombogenicity, angiogenesis, cell signaling, tumor cell proliferation and metastasis. In this review, we will depict the main mechanisms regulating the TF isoform expression in cancer and under other pathophysiologic-relevant conditions. Moreover, we will summarize and discuss the latest findings regarding the role of TF and its isoforms in cancer biology.
C1 [Leppert, Ulrike; Eisenreich, Andreas] Charite, D-10117 Berlin, Germany.
C3 Berlin Institute of Health; Free University of Berlin; Humboldt
   University of Berlin; Charite Universitatsmedizin Berlin
RP Eisenreich, A (corresponding author), Charite, Klin Pharmakol & Toxikol, Campus Mitte,CC4, D-10117 Berlin, Germany.
EM andreas.eisenreich@charite.de
OI Eisenreich, Andreas/0000-0001-7169-3615; Eisenreich,
   Andreas/0000-0002-0615-7901
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NR 70
TC 27
Z9 29
U1 1
U2 29
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0020-7136
EI 1097-0215
J9 INT J CANCER
JI Int. J. Cancer
PD AUG 1
PY 2015
VL 137
IS 3
BP 497
EP 503
DI 10.1002/ijc.28959
PG 7
WC Oncology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology
GA CI3HS
UT WOS:000354639200001
PM 24806794
OA Bronze
DA 2025-04-10
ER

PT J
AU Aggarwal, NT
   Shi, NQ
   Makielski, JC
AF Aggarwal, Nitin T.
   Shi, Nian-Qing
   Makielski, Jonathan C.
TI ATP-sensitive potassium currents from channels formed by Kir6 and a
   modified cardiac mitochondrial SUR2 variant
SO CHANNELS
LA English
DT Article
DE KATP channel; sulfonylurea receptor; alternative splicing; mitochondria;
   ATP-binding cassette protein; intra-exonic splice variant; ischemic
   preconditioning; hemi-transporter; inward rectifier channel
ID CASSETTE ABC TRANSPORTER; K+ CHANNEL; SULFONYLUREA RECEPTORS; CALCIUM;
   MUSCLE; MECHANISM; ISCHEMIA; ISOFORMS; SUBUNIT; DOMAINS
AB Cardiac ATP-sensitive potassium channels (KATP) are found in both the sarcoplasmic reticulum (sarcKATP) and the inner membrane of mitochondria (mitoKATP). SarcKATP are composed of a pore containing subunit Kir6.2 and a regulatory sulfonylurea receptor subunit (SUR2), but the composition of mitoKATP remains unclear. An unusual intra-exonic splice variant of SUR2 (SUR2A-55) was previously identified in mitochondria of mammalian heart and brain, and by analogy with sarcKATP we proposed SUR2A-55 as a candidate regulatory subunit of mitoKATP. Although SUR2A-55 lacks the first nucleotide binding domain (NBD) and 2 transmembrane domains (TMD), it has a hybrid TMD and retains the second NBD. It resembles a hemi-ABC transporter suggesting it could multimerize to function as a regulatory subunit. A putative mitochondrial targeting signal in the N-terminal domain of SUR2A-55 was removed by truncation and when co-expressed with Kir6.1 and Kir6.2 it targeted to the plasma membrane and yielded KATP currents. Single channel conductance, mean open time, and burst open time of SUR2A-55 based KATP was similar to the full-length SUR2A based KATP. However, the SUR2A-55 KATP were 70-fold less sensitive to block by ATP, and twice as resistant to intracellular Ca2+ inhibition compared with the SUR2A KATP, and were markedly insensitive to KATP drugs, pinacidil, diazoxide, and glybenclamide. These results suggest that the SUR2A-55 based channels would tend to be open under physiological conditions and in ischemia, and could account for cardiac and mitochondrial phenotypes protective for ischemia.
C1 [Aggarwal, Nitin T.; Shi, Nian-Qing; Makielski, Jonathan C.] Univ Wisconsin, Dept Med, Madison, WI 53706 USA.
C3 University of Wisconsin System; University of Wisconsin Madison
RP Makielski, JC (corresponding author), Univ Wisconsin, Dept Med, Madison, WI 53706 USA.
EM jcm@medicine.wisc.edu
OI Shi, Nian-Qing/0000-0001-7487-3582
FU NIH [HL-57414, HL-93626]; American Heart Association [11GRNT7600070];
   American Heart Association (AHA) [11GRNT7600070] Funding Source:
   American Heart Association (AHA)
FX The authors would like to thank Stacie Kroboth for technical assistance
   and Dr John W Kyle for reading and commenting on the manuscript. This
   study was supported by funding from NIH HL-57414 to Makielski JC,
   HL-93626 to Shi NQ and from the American Heart Association 11GRNT7600070
   to Shi NQ.
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NR 39
TC 10
Z9 12
U1 0
U2 7
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1933-6950
EI 1933-6969
J9 CHANNELS
JI Channels
PD NOV-DEC
PY 2013
VL 7
IS 6
BP 493
EP 502
DI 10.4161/chan.26181
PG 10
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 299EG
UT WOS:000330377700013
PM 24037327
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Hoogaars, WMH
   Barnett, P
   Rodriguez, M
   Clout, DE
   Moorman, AFM
   Goding, CR
   Christoffels, VM
AF Hoogaars, Willem M. H.
   Barnett, Phil
   Rodriguez, Mercedes
   Clout, Danielle E.
   Moorman, Antoon F. M.
   Goding, Colin R.
   Christoffels, Vincent M.
TI TBX3 and its splice variant TBX3+exon 2a are functionally similar
SO PIGMENT CELL & MELANOMA RESEARCH
LA English
DT Article
DE Tbx3; senescence; isoforms; alternative splicing; repression; p21CIP1;
   ANF; cardiac development
ID ULNAR-MAMMARY SYNDROME; HOLT-ORAM-SYNDROME; TRANSCRIPTION FACTOR;
   SINOATRIAL NODE; GENE; MUTATIONS; EXPRESSION; DIFFERENTIATION;
   SENESCENCE; PATHWAY
AB Tbx3, a member of the conserved family of T-box developmental transcription factors, is a transcriptional repressor required during cardiogenesis for the formation and specification of the sinoatrial node, the pacemaker of the heart. Both the TBX3 and the highly related TBX2 genes are also associated with several cancers, most likely as a consequence of their powerful anti-senescence properties mediated via suppression p14(Arf) and p21(CIP) expression. In melanoma, the TBX2 gene is frequently amplified and inhibition of Tbx2 function leads to senescence and up-regulation of p21(CIP), a Tbx2 target gene. Tbx3 + 2a is a splice variant containing an extra 20 amino acids encoded by exon 2a inserted into the highly conserved T-box DNA-binding domain. We find here that Tbx3 + 2a is evolutionary conserved and that similar insertions are largely absent from the T-box domains of other T-box factors. Tbx3 + 2a has been reported to lack DNA-binding ability and act as a functional antagonist of Tbx3. By contrast, we now demonstrate that both Tbx3 and Tbx3 + 2a bind the consensus T-element, the p21(CIP1) promoter, and the Nppa cardiac target gene. Both isoforms also function as repressors of p21(CIP1) and Nppa promoter activity and interact with homeobox factor Nkx2-5. When ectopically expressed in the embryonic heart of mice, Tbx3 and Tbx3 + 2a both suppressed chamber formation and repressed expression of cardiac chamber markers Nppa and Cx40. The results suggest that in the assays used, Tbx3 and Tbx3 + 2a are functionally equivalent and that like Tbx2, Tbx3 may also function as an anti-senescence factor in melanoma.
C1 [Hoogaars, Willem M. H.; Barnett, Phil; Clout, Danielle E.; Moorman, Antoon F. M.; Christoffels, Vincent M.] Acad Med Ctr, Ctr Heart Failure Res, Amsterdam, Netherlands.
   [Rodriguez, Mercedes; Goding, Colin R.] Marie Curie Res Inst, Signal & Dev Lab, Oxted, Surrey, England.
C3 University of Amsterdam; Academic Medical Center Amsterdam
RP Christoffels, VM (corresponding author), Acad Med Ctr, Ctr Heart Failure Res, Amsterdam, Netherlands.
EM v.m.christoffels@amc.uva.nl
RI Hoogaars, Willem/AAL-1657-2021; Barnett, Phil/F-6153-2011; Rodríguez,
   Mercedes/H-5517-2015
OI Goding, Colin/0000-0002-1614-3909; Hoogaars, Willem/0000-0001-6061-2576;
   Barnett, Phil/0000-0001-7420-6106; Rodriguez-Teja,
   Mercedes/0000-0002-7258-301X
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NR 27
TC 50
Z9 59
U1 0
U2 3
PU WILEY-BLACKWELL
PI MALDEN
PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA
SN 1755-1471
J9 PIGM CELL MELANOMA R
JI Pigment Cell Melanoma Res.
PD JUN
PY 2008
VL 21
IS 3
BP 379
EP 387
DI 10.1111/j.1755-148X.2008.00461.x
PG 9
WC Oncology; Cell Biology; Dermatology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology; Cell Biology; Dermatology
GA 299DW
UT WOS:000255737000010
PM 18444963
DA 2025-04-10
ER

PT J
AU Manetti, M
   Guiducci, S
   Ibba-Manneschi, L
   Matucci-Cerinic, M
AF Manetti, Mirko
   Guiducci, Serena
   Ibba-Manneschi, Lidia
   Matucci-Cerinic, Marco
TI Impaired Angiogenesis in Systemic Sclerosis: The Emerging Role of the
   Antiangiogenic VEGF165b Splice Variant
SO TRENDS IN CARDIOVASCULAR MEDICINE
LA English
DT Review
ID ENDOTHELIAL GROWTH-FACTOR; FACTOR VEGF; CELLS SECRETE; ISOFORMS;
   EXPRESSION; DISEASE; SCLERODERMA; MECHANISMS; VEGF(XXX)B; RECEPTORS
AB Systemic sclerosis (SSc, or scleroderma) is a chronic, multisystem connective tissue disorder characterized by widespread microvascular damage, fibrosis, and autoimmunity that affects the skin and internal organs. in the course of SSc, chronic tissue ischemia and lack of compensatory angiogenesis may lead to loss of dermal capillaries and arterioles and severe peripheral vascular complications, such as nonhealing digital ulcers and, occasionally, gangrene of the extremities, which represent a heavy burden due to their major impact on patients' quality of life. Surprisingly, several studies published during the past decade showed that the potent proangiogenic mediator vascular endothelial growth factor-A (VEGF-A) is overexpressed in the skin and circulation of patients with SSc despite evidence of an overall insufficient angiogenic response. However, early studies could not make the distinction between proangiogenic VEGF(165) and antiangiogenic VEGF(165)b isoforms, which have been uncovered only recently and appear to be generated by alternative splicing mechanisms in the terminal exon of VEGF-A pre-mRNA. In a recent study, we provided the first evidence that a switch from proangiogenic to antiangiogenic VEGF-A isoforms may play a crucial role in the defective angiogenic and vascular repair processes that characterize SSc. Future clinical and translational research should address whether molecular regulation of VEGF-A pre-mRNA splicing might represent a potential therapeutic strategy for the SSc-related peripheral vasculopathy and, most widely, for other pathologic conditions in humans in which we seek to promote or inhibit angiogenesis. (Trends Cardiovasc Med 2011;21:204-210) (C) 2011 Elsevier Inc. All rights reserved.
C1 [Manetti, Mirko; Ibba-Manneschi, Lidia] Univ Florence, Dept Anat Histol & Forens Med, I-50134 Florence, Italy.
   [Guiducci, Serena; Matucci-Cerinic, Marco] Univ Florence, Azienda Osped Univ Careggi, Dept Biomed, Div Rheumatol, I-501349 Florence, Italy.
   [Guiducci, Serena; Matucci-Cerinic, Marco] Univ Florence, Excellence Ctr Res, Transfer & High Educ DENOthe, I-501349 Florence, Italy.
C3 University of Florence; University of Florence; Azienda Ospedaliero
   Universitaria Careggi; University of Florence
RP Manetti, M (corresponding author), Univ Florence, Dept Anat Histol & Forens Med, Largo Brambilla 3, I-50134 Florence, Italy.
EM mirkomanetti@yahoo.it
RI Manetti, Mirko/AEH-9944-2022; MATUCCI CERINIC, MARCO/AAO-2769-2020;
   Guiducci, Serena/AAB-9949-2019
OI Manetti, Mirko/0000-0003-3956-8480
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NR 63
TC 43
Z9 46
U1 0
U2 12
PU ELSEVIER SCIENCE LONDON
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 1050-1738
J9 TRENDS CARDIOVAS MED
JI Trends Cardiovasc. Med.
PD OCT
PY 2011
VL 21
IS 7
BP 204
EP 210
AR PII S1050-1738(12)00141-7
DI 10.1016/j.tcm.2012.05.011
PG 7
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 991JT
UT WOS:000307698000005
PM 22867700
DA 2025-04-10
ER

PT J
AU Wharton, J
   Morgan, K
   Rutherford, RAD
   Catravas, JD
   Chester, A
   Whitehead, BF
   De Leval, MR
   Yacoub, MH
   Polak, JM
AF Wharton, J
   Morgan, K
   Rutherford, RAD
   Catravas, JD
   Chester, A
   Whitehead, BF
   De Leval, MR
   Yacoub, MH
   Polak, JM
TI Differential distribution of angiotensin AT2 receptors in the
   normal and failing human heart
SO JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS
LA English
DT Article
ID RAT CARDIAC FIBROBLASTS; II TYPE-2 RECEPTOR; CONVERTING
   ENZYME-INHIBITION; POLYMERASE CHAIN-REACTION; MYOCARDIAL-INFARCTION;
   GENE-EXPRESSION; AT(1) RECEPTOR; MESSENGER-RNA;
   BIOCHEMICAL-CHARACTERIZATION; CARDIOMYOCYTE HYPERTROPHY
AB Cardiac expression of angiotensin II (Ang II) AT(1) and AT(2) receptor subtypes is species dependent, and changes in their relative proportion may influence myocardial hypertrophy and fibrosis. Regional differences in the distribution of Ang II receptors in the normal and failing human heart were assessed using I-125-(Sar(1),Ile(8))Ang II binding and quantitative autoradiography. Receptor subtypes were distinguished by their affinity for selective nonpeptide antagonists (losartan and PD123319) and sensitivity to dithiothreitol. Ventricular and atrial tissues displayed a heterogeneous distribution of ligand binding sites. AT(2) receptors predominated, representing 70% to 77% of the sites in normal and noninfarcted myocardium. Endocardial, interstitial, perivascular and infarcted regions in the ventricles of patients with end-stage ischemic heart disease or dilated cardiomyopathy exhibited a significantly greater density (P < .001) of high affinity AT(2) binding sites (K-d = 0.57 nmol/liter) compared with adjacent noninfarcted myocardium. Regions displaying the relative increase in AT(2) binding sites corresponded to areas of fibroblast proliferation and collagen deposition, shown by picrosirius red staining. AT(1) binding sites were localized to nerves, occurred at relatively low density in coronary vessels and represented only 23% to 29% of myocardial I-125(Sar(1),Ile(8))Ang II binding sites. The border zone between infarcted and noninfarcted myocardium characteristically contained numerous microvessels, exhibiting perivascular AT(2) receptors and endothelial angiotensin converting enzyme activity as demonstrated by binding of I-125-351A. Specific myocardial AT(2) receptor mRNA transcripts (approximate to 3 kb) were identified and exhibited alternative splicing of untranslated 5' exons, The differential distribution of cardiac Ang II receptor subtypes and selective increase in binding to AT(2) sites in the diseased heart suggest that cells bearing the AT(2) receptor represent a significant target for Ang II, possibly contributing to its growth-related actions.
C1 Hammersmith Hosp, Imperial Coll, Sch Med, Dept Histochem, London W12 0NN, England.
   Med Coll Georgia, Vasc Biol Ctr, Augusta, GA 30912 USA.
   Harefield Hosp, Heart Sci Ctr, Harefield UB9 6JH, Middx, England.
   Great Ormond St Hosp Children, Cardiothorac Unit, London WC1 3JH, England.
C3 Imperial College London; University System of Georgia; Augusta
   University; Royal Brompton & Harefield NHS Foundation Trust; Harefield
   Hospital; University of London; University College London; Great Ormond
   Street Hospital for Children NHS Foundation Trust
RP Wharton, J (corresponding author), Hammersmith Hosp, Imperial Coll, Sch Med, Dept Histochem, Du Cane Rd, London W12 0NN, England.
EM jwharton@rpms.ac.uk
OI Wharton, John/0000-0001-8110-2575
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NR 96
TC 135
Z9 150
U1 0
U2 2
PU AMER SOC PHARMACOLOGY EXPERIMENTAL THERAPEUTICS
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0022-3565
J9 J PHARMACOL EXP THER
JI J. Pharmacol. Exp. Ther.
PD JAN
PY 1998
VL 284
IS 1
BP 323
EP 336
PG 14
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA YQ672
UT WOS:000071411700043
PM 9435195
DA 2025-04-10
ER

PT J
AU Fehlbaum-Beurdeley, P
   Prado, ACJL
   Pallares, D
   Carrière, J
   Soucaille, C
   Rouet, F
   Drouin, D
   Sol, O
   Jordan, H
   Wu, DR
   Lei, L
   Einstein, R
   Schweighoffer, F
   Bracco, L
AF Fehlbaum-Beurdeley, Pascale
   Prado, Anne Charlotte Jarrige-Le
   Pallares, Diego
   Carriere, Jennifer
   Soucaille, Cyril
   Rouet, Fabien
   Drouin, Dominique
   Sol, Olivier
   Jordan, Heather
   Wu, Darong
   Lei, Ling
   Einstein, Richard
   Schweighoffer, Fabien
   Bracco, Laurent
TI Toward an Alzheimer's disease diagnosis via high-resolution blood gene
   expression
SO ALZHEIMERS & DEMENTIA
LA English
DT Article
DE Alzheimer's disease; Biomarkers; Gene expression; Microarray;
   Alternative splicing; Blood
ID AMYLOID PRECURSOR PROTEIN; PRE-MESSENGER-RNA; MONONUCLEAR-CELLS; SPLICE
   VARIANTS; GAMMA-SECRETASE; A-BETA; IDENTIFICATION; CHOLESTEROL;
   RECEPTORS; MICROARRAY
AB Background: There is a significant need for reliable molecular biomarkers to aid in Alzheimer's disease (AD) clinical diagnosis.
   Methods: We performed a genome-wide investigation of the human transcriptome, taking into account the discriminatory power of splice variations from the blood of 80 AD patients and 70 nondemented control (NDC) individuals.
   Results: We characterized a blood RNA signature composed of 170 oligonucleotide probe sets associated with 133 genes that can correctly distinguish AD patients from NDC with a sensitivity of 100% and specificity of 96%. Functionally, this signature highlights genes involved in pathways that were associated with macrophages and lymphocytes within AD patients: Transforming growth factor (TGF-beta) signaling, oxidative stress, innate immunity and inflammation, cholesterol homeostasis, and lipid-raft perturbation, whereas other genes may also provide new insights in the biology of AD.
   Conclusions: This study provides proof-of-concept that whole-blood profiling can generate an AD-associated classification signature via the specific relative expression of biologically relevant RNAs. Such a signature will need to be validated with extended patient cohorts, and evaluated to learn whether it can differentiate AD from others types of dementia. (C) 2010 The Alzheimer's Association. All rights reserved.
C1 [Fehlbaum-Beurdeley, Pascale; Prado, Anne Charlotte Jarrige-Le; Pallares, Diego; Carriere, Jennifer; Soucaille, Cyril; Rouet, Fabien; Drouin, Dominique; Sol, Olivier; Schweighoffer, Fabien; Bracco, Laurent] ExonHit Therapeut, Paris, France.
   [Jordan, Heather; Wu, Darong; Lei, Ling; Einstein, Richard] ExonHit Therapeut Inc, Gaithersburg, MD USA.
RP Fehlbaum-Beurdeley, P (corresponding author), ExonHit Therapeut, Paris, France.
EM pascale.beurdeley@exonhit.com
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NR 69
TC 64
Z9 74
U1 0
U2 13
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1552-5260
EI 1552-5279
J9 ALZHEIMERS DEMENT
JI Alzheimers. Dement.
PD JAN
PY 2010
VL 6
IS 1
BP 25
EP 38
DI 10.1016/j.jalz.2009.07.001
PG 14
WC Clinical Neurology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 550GS
UT WOS:000274116900003
PM 20129318
DA 2025-04-10
ER

PT J
AU Lievers, KJA
   Kluijtmans, LAJ
   Heil, SG
   Boers, GHJ
   Verhoef, P
   van Oppenraay-Emmerzaal, D
   den Heijer, M
   Trijbels, FJM
   Blom, HJ
AF Lievers, KJA
   Kluijtmans, LAJ
   Heil, SG
   Boers, GHJ
   Verhoef, P
   van Oppenraay-Emmerzaal, D
   den Heijer, M
   Trijbels, FJM
   Blom, HJ
TI A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated
   with reduced CBS activity and elevated post-load homocysteine levels
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE cystathionine beta-synthase (CBS); cardiovascular disease; homocysteine;
   hyperhomocysteinaemia; VNTR
ID CORONARY HEART-DISEASE; RNA SPLICE JUNCTIONS; RISK FACTOR;
   METHYLENETETRAHYDROFOLATE REDUCTASE; MILD HYPERHOMOCYSTEINEMIA;
   NUCLEOTIDE SUBSTITUTION; CARDIOVASCULAR-DISEASE; ARTERIAL-DISEASE;
   VASCULAR-DISEASE; COMMON MUTATION
AB Molecular defects in genes encoding enzymes involved in homocysteine metabolism may account for mild hyperhomocysteinaemia, an independent and graded risk factor for cardiovascular disease (CVD). Although heterozygosity for cystathionine beta -synthase (CBS) deficiency has been excluded as a major genetic cause of mild hype rhomocysteinaemia in vascular disease, mutations in (non-)coding DNA sequences may lead to a mildly decreased CBS expression and, consequently, to elevated plasma homocysteine levels. We assessed the association between a 31 bp VNTR, that spans the exon 13-intron 13 boundary of the CBS gene, and fasting, post-methionine load and increase upon methionine load plasma homocysteine levels in 190 patients with arterial occlusive disease, and in 381 controls. The 31 bp VNTR consists of 16,17,18,19 or 21 repeat units and shows a significant increase in plasma homocysteine concentrations with an increasing number of repeat elements, in particular after methionine loading. In 26 vascular disease patients the relationship between this 31 bp VNTR and CBS enzyme activity in cultured fibroblasts was studied. The CBS enzyme activity decreased with increasing number of repeat units of the 31 bp VNTR. RT-PCR experiments showed evidence of alternative splicing at the exon 13-intron 13 splice junction site. The 31 bp VNTR in the CBS gene is associated with post-methionine load hyperhomocysteinaemia that may predispose individuals to an increased risk of cardiovascular diseases.
C1 UMC Nijmegen, Dept Pediat, NL-6500 HB Nijmegen, Netherlands.
   Univ Nijmegen, Med Ctr, Dept Internal Med, Nijmegen, Netherlands.
   UMC Nijmegen, Div Endocrinol, NL-6500 HB Nijmegen, Netherlands.
   Univ Wageningen & Res Ctr, Wageningen Ctr Food Sci, Wageningen, Netherlands.
   Univ Wageningen & Res Ctr, Div Human Nutr & Epidemiol, Wageningen, Netherlands.
C3 Radboud University Nijmegen; Radboud University Nijmegen; Radboud
   University Nijmegen; Wageningen University & Research; Wageningen
   University & Research
RP UMC Nijmegen, Dept Pediat, POB 9101, NL-6500 HB Nijmegen, Netherlands.
EM H.Blom@ckslkn.azn.nl
RI Kluijtmans, Leo/L-4437-2015; Heil, Sandra/AAM-8104-2020
OI Verhoef, Petra/0000-0002-6927-6182; Blom, Henk/0000-0001-5202-9241
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NR 33
TC 40
Z9 48
U1 0
U2 3
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD AUG
PY 2001
VL 9
IS 8
BP 583
EP 589
DI 10.1038/sj.ejhg.5200679
PG 7
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 466LL
UT WOS:000170647000004
PM 11528503
OA Bronze
DA 2025-04-10
ER

PT J
AU Ramos, KS
   Nanez, A
AF Ramos, Kenneth S.
   Nanez, Adrian
TI Genetic Regulatory Networks of Nephrogenesis: Deregulation of WT1
   Splicing by Benzo(a)pyrene
SO BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS
LA English
DT Review
ID ARYL-HYDROCARBON RECEPTOR; BLOOD-PRESSURE; MESSENGER-RNA; TARGET GENE;
   AH RECEPTOR; METANEPHRIC DEVELOPMENT; CARDIAC-HYPERTROPHY; MATERNAL
   SMOKING; DIOXIN RECEPTOR; ANGIOTENSIN-II
AB Recent studies have identified AHR as a master regulator of Wilms' tumor suppressor gene (WT1) signaling in the developing kidney. Activation of AHR signaling by environmental chemical is associated with proteasome-mediated degradation of AHR protein, disruption of WT1 alternative splicing, and marked alterations in the regulation of genetic programs of developmental progression in the developing kidney. The complexity of genetic regulatory networks of nephrogenesis controlled by AHR-WT1 interactions will be discussed here with particular emphasis given to the biological and medical consequences that may result from deficits in nephrogenesis that compromise reserve capacity and renal function later in life. Understanding the impact of early-life environmental exposures to chemicals that disrupt AHR signaling can e minimize negative health consequences to pregnant women an their offspring. Birth Defects Research (Part C) 87:192-197, 2009. (c) 2009 Wiley-Liss, Inc.
C1 [Ramos, Kenneth S.; Nanez, Adrian] Univ Louisville, Dept Biochem & Mol Biol, Sch Med, Louisville, KY 40292 USA.
C3 University of Louisville
RP Ramos, KS (corresponding author), Univ Louisville, Dept Biochem & Mol Biol, Sch Med, Delia Baxter Bldg,Room 227, Louisville, KY 40292 USA.
EM kenneth.ramos@louisville.edu
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NR 68
TC 6
Z9 6
U1 0
U2 5
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1542-975X
EI 1542-9768
J9 BIRTH DEFECTS RES C
JI Birth Defects Res. Part C-Embryo Today-Rev.
PD JUN
PY 2009
VL 87
IS 2
BP 192
EP 197
DI 10.1002/bdrc.20148
PG 6
WC Developmental Biology; Reproductive Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Developmental Biology; Reproductive Biology
GA 470AX
UT WOS:000267945100006
PM 19530133
DA 2025-04-10
ER

PT J
AU Faccio, L
   Chen, A
   Fusco, C
   Martinotti, S
   Bonventre, JV
   Zervos, AS
AF Faccio, L
   Chen, A
   Fusco, C
   Martinotti, S
   Bonventre, JV
   Zervos, AS
TI Mxi2, a splice variant of p38 stress-activated kinase, is a distal
   nephron protein regulated with kidney ischemia
SO AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
LA English
DT Article
DE Mxi2 kinase; stress signaling; p38 kinase; distal tubule; Mxi2/p38
   genomic locus
ID TUBULE BRUSH-BORDER; MAP KINASE; C-JUN; SUBSTRATE-SPECIFICITY; CELLULAR
   STRESSES; MOLECULAR-CLONING; TERMINAL KINASES; PHOSPHORYLATION; CELLS;
   CYTOKINES
AB Mxi2 is one of three known alternative spliced forms of the stress-activated mitogen-activated protein kinase p38 (CSBP). Mxi2 was originally identified as a Max-interacting protein and is the smallest member of the family of stress-activated kinases isolated to date. Mxi2 lacks most of the XI domain found in p38 and instead has a distinct COOH-terminal sequence of 17 amino acids. Here we present the genomic structure of the Mxi2/p38 locus on human chromosome 6q21.2/21.3 and establish the origin of the three spliced forms of p38. Using Mxi2-specific antibodies in mouse organs, we found the Mxi2 protein to be present exclusively in the kidney. Mxi2 is present predominantly in the distal tubule of the nephron and the level of the protein decreased during kidney ischemia-reperfusion. Stress signals or other known activators of the p38 pathway including MAP kinase-kinase 3 and MAP kinase-kinase 6 did not induce the kinase activity of Mxi2 using ATF-2 as a substrate. With the use of hybrid proteins encoding different portions of Mxi2 and p38 polypeptides, the different properties of Mxi2 can be assigned to its unique COOH terminus.
C1 Harvard Univ, Massachusetts Gen Hosp, Sch Med, Cutaneous Biol Res Ctr, Charlestown, MA 02129 USA.
   Massachusetts Gen Hosp, Med Serv, Renal Unit, Charlestown, MA 02129 USA.
   Harvard Univ, Sch Med, Dept Med, Charlestown, MA 02129 USA.
   Univ Aquila, Dept Expt Med, I-67100 Laquila, Italy.
C3 Harvard University; Harvard University Medical Affiliates; Massachusetts
   General Hospital; Harvard University; Harvard University Medical
   Affiliates; Massachusetts General Hospital; Harvard University;
   University of L'Aquila
RP Zervos, AS (corresponding author), Harvard Univ, Massachusetts Gen Hosp, Sch Med, Cutaneous Biol Res Ctr, 149 13th St, Charlestown, MA 02129 USA.
RI Martinotti, Stefano/LSK-3931-2024
OI MARTINOTTI, Stefano/0000-0001-7672-891X
FU NIDDK NIH HHS [R01DK55734] Funding Source: Medline
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NR 51
TC 19
Z9 25
U1 0
U2 0
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6143
J9 AM J PHYSIOL-CELL PH
JI Am. J. Physiol.-Cell Physiol.
PD APR
PY 2000
VL 278
IS 4
BP C781
EP C790
DI 10.1152/ajpcell.2000.278.4.C781
PG 10
WC Cell Biology; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Physiology
GA 301TG
UT WOS:000086325900018
PM 10751326
DA 2025-04-10
ER

PT J
AU Ito, M
   Akechi, M
   Hirose, R
   Ichimura, M
   Takamatsu, N
   Xu, P
   Nakabeppu, Y
   Tadayoshi, S
   Yamamoto, K
   Yoshioka, K
AF Ito, M
   Akechi, M
   Hirose, R
   Ichimura, M
   Takamatsu, N
   Xu, P
   Nakabeppu, Y
   Tadayoshi, S
   Yamamoto, K
   Yoshioka, K
TI Isoforms of JSAP1 scaffold protein generated through alternative
   splicing
SO GENE
LA English
DT Article
DE c-Jun NH2-terminal kinase; mitogen-activated protein kinase; signal
   transduction; stress-activated protein kinase
ID N-TERMINAL KINASE; (JNK)-BINDING PROTEIN; MAP KINASES; ACTIVATION; JNK;
   MITOGEN; PHOSPHORYLATION; REPERFUSION; ISCHEMIA; PATHWAYS
AB We have identified four isoforms of c-Jun NH2-terminal kinase (JNK)/stress-activated protein kinase-associated protein 1 (JSAP1), a scaffold protein that participates in JNK mitogen-activated protein kinase cascades, termed JSAP1a, JSAP1b, JSAP1c, and JSAP1d. The previously identified JSAP1 was renamed JSAP1a to avoid confusion. Analyses of the exon-intron structure of the jsap1 gene indicated that the isoforms are generated through alternative splicing involving exons 5 and 6. The mRNA expression levers of the JSAP1 isoforms differed among the mouse tissues examined. We also investigated the region of JSAP1 responsible for its interaction with JNK, and found that the JNK-binding domain is located between aa residues 201 and 217 in JSAP1a, which is encoded by part of exon 6. As all the JSAP1 isoforms contain this binding domain, we examined the binding affinity of the JSAP1 isoforms for JNK1, JNK2, and JNK3, JSAP1c and JSAP1d, which contain a 31-aa sequence not present in JSAP1a or JSAP1b, had a lower binding affinity for the JNKs, especially JNK3, These results suggest that JSAP1c and JSAP1d may attenuate the scaffolding activity of JSAP1a and/or JSAP1b in JNK cascades, especially the JNK3 cascades. (C) 2000 Elsevier Science B.V, All rights reserved.
C1 Kanazawa Univ, Canc Res Inst, Dept Mol Pathol, Kanazawa, Ishikawa 9200934, Japan.
   Kyushu Univ, Med Inst Bioregulat, Dept Biochem, Fukuoka 8128582, Japan.
   Japan Sci & Technol, CREST, Fukuoka 8128582, Japan.
   Kyowa Hakko Kogyo Co Ltd, Pharmaceut Res Inst, Shizuoka 4118731, Japan.
   Kitasato Univ, Sch Sci, Dept Biosci, Kanagawa 2288555, Japan.
C3 Kanazawa University; Kyushu University; Japan Science & Technology
   Agency (JST); Kyowa Kirin Ltd; Kitasato University
RP Yoshioka, K (corresponding author), Kanazawa Univ, Canc Res Inst, Dept Mol Pathol, Kanazawa, Ishikawa 9200934, Japan.
RI Nakabeppu, Yusaku/A-8902-2011
OI Nakabeppu, Yusaku/0000-0002-6739-242X
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NR 20
TC 32
Z9 38
U1 0
U2 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD SEP 19
PY 2000
VL 255
IS 2
BP 229
EP 234
DI 10.1016/S0378-1119(00)00335-8
PG 6
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 362KR
UT WOS:000089777600009
PM 11024282
DA 2025-04-10
ER

PT J
AU Coito, AJ
   Brown, LF
   Peters, JH
   KupiecWeglinski, JW
   VanDeWater, L
AF Coito, AJ
   Brown, LF
   Peters, JH
   KupiecWeglinski, JW
   VanDeWater, L
TI Expression of fibronectin splicing variants in organ transplantation - A
   differential pattern between rat cardiac allografts and isografts
SO AMERICAN JOURNAL OF PATHOLOGY
LA English
DT Article
ID HYPERSENSITIVITY SKIN REACTIONS; MESSENGER-RNA PRECURSORS; SMOOTH-MUSCLE
   CELLS; GROWTH FACTOR-BETA; CD4+ T-CELLS; EXTRACELLULAR-MATRIX;
   PROLIFERATIVE GLOMERULONEPHRITIS; EMBRYONIC FIBRONECTINS; CORONARY
   ARTERIOPATHY; CELLULAR FIBRONECTIN
AB Allograft rejection is associated with infiltration of inflammatory cells and deposition of extracellular matrix proteins. The extent to which diversity in the extracellular matrix regulates inflammatory cell function in transplants remains unclear. One group of extracellular matrix proteins, termed fibronectins (FNs), exhibits inherent diversity as a consequence of alternative splicing in three segments: EIIIA, EIIIB, or V. Although the EIIIA segment has documented functions in mesenchymal cell differentiation, neither this segment nor the EIIIB segment have been tested for effects specific to leukocyte functions. By contrast, the V region can include the CS-1 segment to which leukocytes may adhere through alpha(4) beta(1) integrins. In this study, we demonstrate that EIIIA(+), EIIIB+, and V+ FN variants are synthesized, primarily by macrophages in distinct temporal and spatial patterns in two rat cardiac transplant models: either with antigenic challenge, allografts, or without challenge, isografts. The ratio of EIIIA inclusion into FN increases by day 1 in allografts and isografts and remains high until allografts are rejected (similar to 7 days) but falls to normal levels in tolerated isografts (day 6). EIIIB+ FN ratios in allografts peak later than do EIIIA(+) FNs (day 4). EIIIB+ FN ratios remain relatively low in isografts. Interestingly, EIIIA(+) and EIIIB+ FNs are deposited prominently in the myocardium of rejecting allografts in close association with infiltrating leukocytes, and FN expression and deposition are prominent at sites of infarction. By contrast, these FNs are largely restricted to the epicardium and to a lesser degree in the immediately adjacent myocardium in isografts. CS-1(+) FNs increase in allografts and isografts at 3 hours after transplantation but are particularly prominent in allografts 1 to 3 days before rejection. Our data suggest that FN splicing variants have a differential role in the effector functions of leukocytes in allografts and isografts and provide a foundation for testing their function on leukocytes and a rationale for FN-based therapeutics to modulate allograft rejection in transplant recipients.
C1 BETH ISRAEL HOSP,DEPT PATHOL,BOSTON,MA 02215.
   HARVARD UNIV,SCH MED,SURG RES LAB,BOSTON,MA 02115.
   BRIGHAM & WOMENS HOSP,DEPT SURG,BOSTON,MA 02115.
   MASSACHUSETTS GEN HOSP,DEPT SURG,BOSTON,MA 02114.
   CEDARS SINAI MED CTR,DIV PULM MED,LOS ANGELES,CA 90048.
C3 Harvard University; Harvard University Medical Affiliates; Beth Israel
   Deaconess Medical Center; Harvard University; Harvard Medical School;
   Harvard University; Harvard University Medical Affiliates; Brigham &
   Women's Hospital; Harvard University; Harvard University Medical
   Affiliates; Massachusetts General Hospital; Cedars Sinai Medical Center
OI Van De Water, Livingston/0000-0002-3825-9224
FU NIAID NIH HHS [R01 AI23847] Funding Source: Medline; NIGMS NIH HHS
   [GM-36812] Funding Source: Medline
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NR 62
TC 39
Z9 43
U1 0
U2 0
PU AMER SOC INVESTIGATIVE PATHOLOGY, INC
PI BALTIMORE
PA 428 EAST PRESTON ST, BALTIMORE, MD 21202-3993
SN 0002-9440
J9 AM J PATHOL
JI Am. J. Pathol.
PD MAY
PY 1997
VL 150
IS 5
BP 1757
EP 1772
PG 16
WC Pathology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pathology
GA WX141
UT WOS:A1997WX14100023
PM 9137099
DA 2025-04-10
ER

PT J
AU Fushimi, K
   Osumi, N
   Tsukahara, T
AF Fushimi, K
   Osumi, N
   Tsukahara, T
TI NSSRs/TASRs/SRp38s function as splicing modulators via binding to
   pre-mRNAs
SO GENES TO CELLS
LA English
DT Article
ID RECEPTOR ISOFORMS; PROTEIN; NEURONS; SUFFICIENT; DOMAINS
AB The genes for neural-salient serine/arginine-rich (NSSR) proteins 1 and 2 have been cloned from the neuronal differentiated embryocarcinoma cell line, P19. NSSRs contain an RNA recognition motif (RRM) at the N-terminal and several SR rich regions at the C-terminal resembling RS domains. We found that NSSRs associated with U1-70k, and determined the exon inclusion activity of NSSRs' C-terminals. First, the RRM was changed to the MS2 coat protein (MS2CP) and then, MS2 RNA stem-loops were inserted in the middle of the exon N of the clathrin light chain B minigene as an artificial exonic splicing enhancer to be recognized by the MS2CP. The modified exon N of the pre-mRNA was included by the MS2CP switched NSSR 1, but it was excluded by the MS2CP switched NSSR 2. The deletion analysis of the MS2CP switched NSSR 1 showed that the middle SR rich region was responsible for the activity of the modified exon N inclusion. Furthermore, the RRM domain of NSSRs recognized mRNAs. NSSRs were expressed in the nervous system, especially in cerebellar and hippocampal primordia, ventricular zone of the neocortex and olfactory bulb primordia, retina, and olfactory epithelium at E15.5, all containing undifferentiated neural stem cells. Taken together, our results showed that NSSRs modulate alternative splicing via binding to premRNAs during neural differentiation.
C1 Japan Adv Inst Sci & Technol, Ctr Nano Mat & Technol, Nomi, Ishikawa 9231292, Japan.
   Tohoku Univ, Grad Sch Med, Ctr Translat & Adv Anim Res Human Dis, Div Dev Neurosci,Aoba Ku, Sendai, Miyagi 9808575, Japan.
C3 Japan Advanced Institute of Science & Technology (JAIST); Tohoku
   University
RP Japan Adv Inst Sci & Technol, Ctr Nano Mat & Technol, Nomi, Ishikawa 9231292, Japan.
EM tukahara@jaist.ac.jp
RI Osumi, Noriko/T-2823-2019
OI Osumi, Noriko/0000-0003-0548-6452
CR Cao WH, 1998, J BIOL CHEM, V273, P20629, DOI 10.1074/jbc.273.32.20629
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NR 27
TC 10
Z9 14
U1 0
U2 6
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1356-9597
EI 1365-2443
J9 GENES CELLS
JI Genes Cells
PD JUN
PY 2005
VL 10
IS 6
BP 531
EP 541
DI 10.1111/j.1365-2443.2005.00855.x
PG 11
WC Cell Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Genetics & Heredity
GA 930PD
UT WOS:000229427500003
PM 15938712
OA Bronze
DA 2025-04-10
ER

PT J
AU Vecchione, L
   Diano, L
   Campagnolo, L
   Rocchi, L
   Ferrè, F
   Mehta, JL
   Novelli, G
   Amati, F
AF Vecchione, Lucia
   Diano, Laura
   Campagnolo, Luisa
   Rocchi, Lucia
   Ferre, Fabrizio
   Mehta, Jawahar L.
   Novelli, Giuseppe
   Amati, Francesca
TI Functional characterization and expression analysis of novel alternative
   splicing isoforms of Olr1 gene during mouse embryogenesis
SO GENE
LA English
DT Article
DE Olr1; Alternative splicing; Embryonic development; Lox-1; Expression
   study
ID TRANSMEMBRANE PROTEIN TOPOLOGY; LIPOPROTEIN RECEPTOR-1 LOX-1; OXIDIZED
   LDL; LECTIN-LIKE; MYOCARDIAL-INFARCTION; MEMBRANE-PROTEINS; PREDICTION;
   FGF8; VARIANT; MECHANISMS
AB LOX-1 (Lectin-like oxidized low-density lipoprotein receptor-1) is the primary endothelial receptor of oxidized LDL (oxLDL). Both in vitro and in vivo experiments have shown this protein to be important in the initiation of atherosclerosis and to be up-regulated by pro-atherogenic factors. Recently, it has been demonstrated that Olr1, the gene encoding Lox-1, is important for tumor growth and for maintaining the transformed state in different cancer cell lines, suggesting that it acts in a molecular pathway connecting cancer and atherosclerosis. Both diseases in humans are characterized by uncontrolled regulation of cellular growth and differentiation.
   We present evidence that Old is expressed during mouse embryogenesis in developmental stages (from 7.5 to 9.5 dpc) in which cardiogenesis occurs. In addition, we identify two novel Olr1 isoform (hereafter referred to as D3D5Olr1 and D2D5Olr1) whose spatio-temporal expression pattern overlaps with Olr1 in vivo. In vitro, D3D501r1 localizes to the cell surface membrane as 011, in contrast with D2D5Olr1; these data suggest that D2D5Olr1 isoform translates a receptor that does not reach the plasma membrane. Accordingly, in silico transmembrane protein topology prediction analyses, show that D2D5Olr1 does not contain any transmembrane region. Finally, both isoforms can activate the same genetic pathways underlying Old expression, such as, hypoxia and inflammation, even if with a different efficiency.
   All these data suggest a new functional involvement of Olr1, and probably of its spliceforms, in murine cardiogenesis and angiogenesis. (C) 2011 Elsevier B.V. All rights reserved.
C1 [Vecchione, Lucia; Diano, Laura; Rocchi, Lucia; Amati, Francesca] Univ Roma Tor Vergata, Ctr Mol Bioinformat, Dept Biopathol, I-00133 Rome, Italy.
   [Campagnolo, Luisa] Univ Roma Tor Vergata, Ctr Mol Bioinformat, Dept Publ Hlth & Cell Biol, I-00133 Rome, Italy.
   [Ferre, Fabrizio] Univ Roma Tor Vergata, Ctr Mol Bioinformat, Dept Biol, I-00133 Rome, Italy.
   [Mehta, Jawahar L.; Novelli, Giuseppe] Univ Arkansas Med Sci, Dept Internal Med, Little Rock, AR 72205 USA.
   [Mehta, Jawahar L.; Novelli, Giuseppe] Cent Arkansas Vet Healthcare Syst, Little Rock, AR USA.
   [Novelli, Giuseppe] St Peter Fatebenefratelli Hosp, I-00189 Rome, Italy.
   [Novelli, Giuseppe] ANVUR, Natl Agcy Evaluat Univ & Res, Rome, Italy.
C3 University of Rome Tor Vergata; University of Rome Tor Vergata;
   University of Rome Tor Vergata; University of Arkansas System;
   University of Arkansas Medical Sciences; US Department of Veterans
   Affairs; Veterans Health Administration (VHA); Central Arkansas Veterans
   Healthcare System
RP Amati, F (corresponding author), Univ Roma Tor Vergata, Ctr Mol Bioinformat, Dept Biopathol, Via Montpellier 1, I-00133 Rome, Italy.
EM luciavecchione@yahoo.it; laura.diano@gmail.com; campagno@uniroma2.it;
   lucia.rocchi@uniroma1.it; fabrizio.ferre@gmail.com; mehtajl@uams.edu;
   novelli@med.uniroma2.it; amati@med.uniroma2.it
RI Mehta, jl/AAB-8832-2019; Ferrè, Fabrizio/IAQ-1674-2023; Novelli,
   Giuseppe/A-5195-2013; Amati, Francesca/J-8439-2012; CAMPAGNOLO,
   LUISA/K-3520-2018
OI Amati, Francesca/0000-0003-2209-2156; Novelli,
   Giuseppe/0000-0002-7781-602X; CAMPAGNOLO, LUISA/0000-0003-3928-0276;
   FERRE', FABRIZIO/0000-0003-2768-5305
FU FILAS (Finanziaria Laziale di Sviluppo, Regione Lazio); Fondazione
   Umberto Veronesi; Department of Veterans Affairs
FX This work was supported in part by grants from FILAS (Finanziaria
   Laziale di Sviluppo, Regione Lazio) (FIneSTRe, to FA and GN), Fondazione
   Umberto Veronesi 2011 (to GN) and Department of Veterans Affairs (to
   JLM).
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NR 36
TC 5
Z9 5
U1 1
U2 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD JAN 1
PY 2012
VL 491
IS 1
BP 5
EP 12
DI 10.1016/j.gene.2011.09.030
PG 8
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 859OV
UT WOS:000297886600002
PM 22001547
DA 2025-04-10
ER

PT J
AU Felder, TK
   Klein, K
   Patsch, W
   Oberkofler, H
AF Felder, TK
   Klein, K
   Patsch, W
   Oberkofler, H
TI A novel SREBP-1 splice variant: Tissue abundance and transactivation
   potency
SO BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
LA English
DT Article
DE SREBP-1; alternative splicing; transcriptional regulation
ID ELEMENT-BINDING-PROTEIN; STEROL REGULATION; GENE-EXPRESSION; ACTIVATION
   DOMAINS; ALZHEIMERS-DISEASE; TARGET PROMOTERS; TRANSCRIPTION;
   CHOLESTEROL; LOCALIZATION; POLYMORPHISM
AB Sterol regulatory element binding proteins (SREBPs) belong to the family of basic helix-loop-helix-leucine zipper transcription factors. The SREBP-1 gene encodes two different isoforms, SREBP-1a and -1c, that are expressed at varying levels in different tissues and cultured cells and exhibit common and distinct functions. We identified an additional SREBP-1 isoform, termed SREBP-1ac, and determined its mRNA abundance in different human tissues and cell lines. SREBP-lac mRNA was detectable in all tissues studied, although at lower levels than the major SREBP-1a and -1c isoforms. Transcription of the novel SREBP isoform was not induced by insulin or cholesterol depletion. SREBP-1ac did not transactivate the human LDLR and UCP2 promoters but robustly attenuated the transactivation capacity of SREBP-1a, -1c and -2 in cotransfection experiments. (c) 2005 Elsevier B.V. All rights reserved.
C1 Salzburger Landeskliniken, Dept Lab Med, A-5020 Salzburg, Austria.
   Paracelsus Private Med Univ, A-5020 Salzburg, Austria.
C3 Paracelsus Private Medical University
RP Salzburger Landeskliniken, Dept Lab Med, A-5020 Salzburg, Austria.
EM h.oberkofler@salk.at
RI ; Felder, Thomas/A-8342-2017
OI Klein, Kerstin/0000-0001-5303-8027; Felder, Thomas/0000-0001-8266-5513
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NR 33
TC 20
Z9 25
U1 0
U2 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0167-4781
J9 BBA-GENE STRUCT EXPR
JI Biochim. Biophys. Acta-Gene Struct. Expression
PD OCT 15
PY 2005
VL 1731
IS 1
BP 41
EP 47
DI 10.1016/j.bbaexp.2005.08.004
PG 7
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 979BS
UT WOS:000232917800005
PM 16153721
DA 2025-04-10
ER

PT J
AU Sun, LL
   Chen, Y
   Luo, HQ
   Xu, MT
   Meng, GL
   Zhang, W
AF Sun, Linlin
   Chen, Yun
   Luo, Huiqin
   Xu, Mengting
   Meng, Guoliang
   Zhang, Wei
TI Ca<SUP>2+</SUP>/calmodulin-dependent protein kinase II regulation by
   inhibitor 1 of protein phosphatase 1 alleviates necroptosis in high
   glucose-induced cardiomyocytes injury
SO BIOCHEMICAL PHARMACOLOGY
LA English
DT Article
DE Inhibitor 1 of protein phosphatase 1; Ca2+/calmodulin-dependent protein
   kinase II; High glucose; Oxidative stress; Necroptosis
ID OXIDATIVE STRESS; DIABETIC CARDIOMYOPATHY; CAMKII-DELTA; CELL-DEATH;
   RIPK3; DYSFUNCTION; ACTIVATION; MECHANISMS; FISSION; DAMAGE
AB Ca2+/calmodulin-dependent protein kinase II (CaMKII) plays an important role in the cardiovascular system. However, the potential protective role of inhibitor 1 of protein phosphatase 1 (I1PP1), which is able to regulate CaMKII, in high glucose-induced cardiomyocytes injury remains unknown. In the present study, cardiomyocytes were transfected with I1PP1 adenovirus to inhibit protein phosphatase 1 (PP1) expression. After the cardiomyocytes were subjected to high glucose stimulation for 48 h, quantitative real-time PCR was used to detect CaMKII delta alternative splicing. Lactate dehydrogenase (LDH) release and adenosine triphosphate (ATP) level were measured to assess cell damage and energy metabolism respectively. CaMKII activity was represented as phospholamban (PLB) phosphorylation, CaMKII phosphorylation (p-CaMKII) and oxidation (ox-CaMKII). Dihydroethidium (DHE), MitoSOX and JC-1 staining were used to assess oxidative stress and mitochondrial membrane potential. Necroptosis was evaluated by receptor interacting protein kinase 3 (RIPK3) expression, TUNEL and cleaved-caspase 3 levels. RIPK3, mixed lineage kinase domain like protein (MLKL) and dynamin-related protein 1 (DRP1) expressions were also detected. We found that high glucose disordered CaMKII delta altemative splicing. I1PP1 over-expression suppressed PLB phosphorylation, ox-CaMKII, DRP1, RIPK3 and cleaved-caspase 3 proteins expression, decreased LDH release, attenuated necroptosis, increased ATP level, inhibited oxidative stress, and elevated mitochondrial membrane potential in high glucose-stimulated cardiomyocytes. However, there was no effect on phosphorylation of MLKL (p-MLKL), p-CaMKII, and receptor interacting protein kinase 1 (RIPK1) expression. Altogether, I1PP1 over-expression alleviated CaMKII delta alternative splicing disorder, suppressed CaMKII oxidation, reduced reactive oxygen species (ROS) accumulation and inhibited necroptosis to attenuate high glucose-induced cardiomyocytes injury.
C1 [Sun, Linlin; Chen, Yun; Luo, Huiqin; Xu, Mengting; Meng, Guoliang; Zhang, Wei] Nantong Univ, Sch Pharm, Dept Pharmacol, Key Lab Inflammat & Mol Drug Target Jiangsu Prov, Nantong 226001, Peoples R China.
   [Chen, Yun; Meng, Guoliang] Nantong Univ, Sch Med, Nantong 226001, Peoples R China.
C3 Nantong University; Nantong University
RP Meng, GL; Zhang, W (corresponding author), Nantong Univ, Sch Pharm, Dept Pharmacol, Key Lab Inflammat & Mol Drug Target Jiangsu Prov, Nantong 226001, Peoples R China.
EM mengguoliang@ntu.edu.cn; zhangw@ntu.edu.cn
RI Xu, Meng/HJY-7139-2023
OI Sun, Linlin/0000-0002-1076-6742
FU National Natural Science Foundation of China [81873470, 81670243,
   81770279]; Natural Science Foundation of Jiangsu Province [BK20151276];
   Natural Science Research in Jiangsu Higher Education Institutions
   [18KJA310005]; project of "Jiangsu Six Peaks of Talent" [2018-WSN-062];
   China Postdoctoral Science Foundation [2017M610342]; Jiangsu Planned
   Project for Postdoctoral Research Funds [1701050A]; Research and
   Innovation Project of Graduate Students in Jiangsu Province [KYCX18
   2401]; Nantong University Cooperative Innovation Program of Small
   Molecular Compound RD [NTU2016-1]
FX This work was supported by grants from the National Natural Science
   Foundation of China (81873470, 81670243, 81770279), the Natural Science
   Foundation of Jiangsu Province (BK20151276), a major project of Natural
   Science Research in Jiangsu Higher Education Institutions (18KJA310005),
   the project of "Jiangsu Six Peaks of Talent" (2018-WSN-062), a project
   funded by China Postdoctoral Science Foundation (2017M610342), a Jiangsu
   Planned Project for Postdoctoral Research Funds (1701050A), a Research
   and Innovation Project of Graduate Students in Jiangsu Province (KYCX18
   2401), and the Nantong University Cooperative Innovation Program of
   Small Molecular Compound R&D (NTU2016-1).
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NR 76
TC 27
Z9 27
U1 0
U2 17
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0006-2952
EI 1873-2968
J9 BIOCHEM PHARMACOL
JI Biochem. Pharmacol.
PD MAY
PY 2019
VL 163
BP 194
EP 205
DI 10.1016/j.bcp.2019.02.022
PG 12
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA HV5YC
UT WOS:000466060000019
PM 30779910
DA 2025-04-10
ER

PT J
AU Harkin, LF
   Lindsay, SJ
   Xu, YB
   Alzu'bi, A
   Ferrara, A
   Gullon, EA
   James, OG
   Clowry, GJ
AF Harkin, Lauren F.
   Lindsay, Susan J.
   Xu, Yaobo
   Alzu'bi, Ayman
   Ferrara, Alexandra
   Gullon, Emily A.
   James, Owen G.
   Clowry, Gavin J.
TI Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early
   Developing Human Cerebral Cortex
SO CEREBRAL CORTEX
LA English
DT Article
DE cortical development; neurexins; neurodevelopmental disorders; subplate
ID COPY NUMBER VARIATION; ALPHA-NEUREXINS; HUMAN NEOCORTEX; NERVOUS-SYSTEM;
   SUBPLATE ZONE; SPECTRUM; NEUROLIGIN; BINDING; GROWTH; GENES
AB Neurexins (NRXNs) are presynaptic terminal proteins and candidate neurodevelopmental disorder susceptibility genes; mutations presumably upset synaptic stabilization and function. However, analysis of human cortical tissue samples by RNAseq and quantitative real-time PCR at 8-12 postconceptional weeks, prior to extensive synapse formation, showed expression of all three NRXNs as well as several potential binding partners. However, the levels of expression were not identical; NRXN1 increased with age and NRXN2 levels were consistently higher than for NRXN3. Immunohistochemistry for each NRXN also revealed different expression patterns at this stage of development. NRXN1 and NRXN3 immunoreactivity was generally strongest in the cortical plate and increased in the ventricular zone with age, but was weak in the synaptogenic presubplate (pSP) and marginal zone. On the other hand, NRXN2 colocalized with synaptophysin in neurites of the pSP, but especially with GAP43 and CASK in growing axons of the intermediate zone. Alternative splicing modifies the role of NRXNs and we found evidence by RNAseq for exon skipping at splice site 4 and concomitant expression of KHDBRS proteins which control this splicing. NRXN2 may play a part in early cortical synaptogenesis, but NRXNs could have diverse roles in development including axon guidance, and intercellular communication between proliferating cells and/or migrating neurons.
C1 [Harkin, Lauren F.; Alzu'bi, Ayman; Ferrara, Alexandra; Gullon, Emily A.; James, Owen G.; Clowry, Gavin J.] Newcastle Univ, Inst Neurosci, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England.
   [Harkin, Lauren F.; Lindsay, Susan J.; Xu, Yaobo; Alzu'bi, Ayman; Ferrara, Alexandra; Gullon, Emily A.; James, Owen G.] Newcastle Univ, Int Ctr Life, Inst Genet Med, Pkwy Dr, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England.
   [Harkin, Lauren F.] Manchester Metropolitan Univ, Sch Healthcare Sci, Manchester M1 5GD, Lancs, England.
   [Xu, Yaobo] Wellcome Trust Res Labs, Sanger Inst, Cambridge CB10 1SA, England.
   [James, Owen G.] Univ Edinburgh, MRC Ctr Regenerat Med, Edinburgh EH16 4UU, Midlothian, Scotland.
C3 Newcastle University - UK; Newcastle University - UK; Manchester
   Metropolitan University; Wellcome Trust Sanger Institute; University of
   Edinburgh
RP Clowry, GJ (corresponding author), Newcastle Univ, Inst Neurosci, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England.; Lindsay, SJ (corresponding author), Newcastle Univ, Int Ctr Life, Inst Genet Med, Pkwy Dr, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England.
EM susan.lindsay@ncl.ac.uk; gavin.clowry@ncl.ac.uk
RI Lindsay, Susan/B-3828-2013; Clowry, Gavin/A-4881-2009; Alzubi,
   Ayman/LLM-9121-2024
OI Xu, Yaobo/0000-0003-1242-513X; Lindsay, Susan/0000-0003-2980-4582;
   Clowry, Gavin/0000-0002-6489-8329; Alzubi, Ayman/0000-0001-7848-7080;
   James, Owen Gwydion/0000-0001-9948-2190
FU Joint UK MRC/Wellcome Trust [099175/Z/12/Z]; UK MRC [MC/PC/13047]; MRC
   [G1100540, MC_PC_15004, G0700089, G0400074, G0502157, G0900652] Funding
   Source: UKRI
FX The human fetal material was provided by the Joint UK MRC/Wellcome Trust
   (grant # 099175/Z/12/Z) Human Developmental Biology Resource
   (www.hdbr.org). The RNAseq study was funded by a grant from UK MRC
   (grant # MC/PC/13047).
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OA Green Published, hybrid
DA 2025-04-10
ER

PT J
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   Ohnishi, YH
   Ohnishi, YN
   Takase, K
   Sakumi, K
   Shigeto, H
   Nakabeppu, Y
AF Yutsudo, Noriko
   Kamada, Takashi
   Kajitani, Kosuke
   Nomaru, Hiroko
   Katogi, Atsuhisa
   Ohnishi, Yoko H.
   Ohnishi, Yoshinori N.
   Takase, Kei-ichiro
   Sakumi, Kunihiko
   Shigeto, Hiroshi
   Nakabeppu, Yusaku
TI fosB-Null Mice Display Impaired Adult Hippocampal Neurogenesis
   and Spontaneous Epilepsy with Depressive Behavior
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE immediate early gene; alternative splicing; adult neurogenesis; neural
   progenitor; proliferation; epilepsy
ID DELTA-FOSB; INCREASED EXPRESSION; NEUROPEPTIDE VGF; TGF-BETA; GENE;
   BRAIN; SEIZURES; TRANSCRIPTION; INDUCTION; GALANIN
AB Patients with epilepsy are at high risk for major depression relative to the general population, and both disorders are associated with changes in adult hippocampal neurogenesis, although the mechanisms underlying disease onset remain unknown. The expression of fosB, an immediate early gene encoding FosB and Delta FosB/Delta 2 Delta FosB by alternative splicing and translation initiation, is known to be induced in neural progenitor cells within the subventricular zone of the lateral ventricles and subgranular zone of the hippocampus, following transient forebrain ischemia in the rat brain. Moreover, adenovirus-mediated expression of fosB gene products can promote neural stem cell proliferation. We recently found that fosB-null mice show increased depressive behavior, suggesting impaired neurogenesis in fosB-null mice. In the current study, we analyzed neurogenesis in the hippocampal dentate gyrus of fosB-null and fosB(d/d) mice that express Delta FosB/Delta 2 Delta FosB but not FosB, in comparison with wild-type mice, alongside neuropathology, behaviors, and gene expression profiles. fosB-null but not fosB(d/d) mice displayed impaired neurogenesis in the adult hippocampus and spontaneous epilepsy. Microarray analysis revealed that genes related to neurogenesis, depression, and epilepsy were altered in the hippocampus of fosB-null mice. Thus, we conclude that the fosB-null mouse is the first animal model to provide a genetic and molecular basis for the comorbidity between depression and epilepsy with abnormal neurogenesis, all of which are caused by loss of a single gene, fosB. Neuropsychopharmacology (2013) 38, 895-906; doi: 10.1038/npp.2012.260; published online 16 January 2013
C1 [Yutsudo, Noriko; Kajitani, Kosuke; Nomaru, Hiroko; Katogi, Atsuhisa; Ohnishi, Yoko H.; Ohnishi, Yoshinori N.; Sakumi, Kunihiko; Nakabeppu, Yusaku] Kyushu Univ, Med Inst Bioregulat, Dept Immunobiol & Neurosci, Div Neurofunct Genom, Fukuoka 8128582, Japan.
   [Kamada, Takashi; Takase, Kei-ichiro; Shigeto, Hiroshi] Kyushu Univ, Grad Sch Med Sci, Neurol Inst, Dept Neurol, Fukuoka 8128582, Japan.
   [Sakumi, Kunihiko; Nakabeppu, Yusaku] Kyushu Univ, Res Ctr Nucleotide Pool, Fukuoka 8128582, Japan.
C3 Kyushu University; Kyushu University; Kyushu University
RP Nakabeppu, Y (corresponding author), Kyushu Univ, Med Inst Bioregulat, Dept Immunobiol & Neurosci, Div Neurofunct Genom,Higashi Ku, 3-1-1 Maidashi, Fukuoka 8128582, Japan.
EM yusaku@bioreg.kyushu-u.ac.jp
RI Takase, Kei-ichiro/KCK-6304-2024; Sakumi, Kunihiko/G-4808-2011;
   Nakabeppu, Yusaku/A-8902-2011
OI Kajitani, Kosuke/0000-0001-6193-6863; Nakabeppu,
   Yusaku/0000-0002-6739-242X
FU Ministry of Education, Culture, Sports, Science and Technology of Japan;
   Japan Society for the Promotion of Science [18300124, 22221004,
   23657116]; Kyushu University Global COE Program (Cell-rate Decision
   Function and Dysfunction in Homeostasis); Grants-in-Aid for Scientific
   Research [22221004, 23657116, 10J00463, 24591735, 18300124] Funding
   Source: KAKEN
FX We thank Dr Z Sheng (Kyushu University, Fukuoka, Japan), Dr N Osumi
   (Tohoku University, Sendai, Japan) and Dr M Matsumata (Brain Science of
   Institute, RIKEN, Wako, Japan) for technical advice, and Ms S Kitamura,
   Ms A Matsuyama, and Ms K Nakabeppu for technical help. This work was
   supported by grants from the Ministry of Education, Culture, Sports,
   Science and Technology of Japan, the Japan Society for the Promotion of
   Science (18300124, 22221004, and 23657116 to Y Nakabeppu), and the
   Kyushu University Global COE Program (Cell-rate Decision Function and
   Dysfunction in Homeostasis).
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NR 50
TC 35
Z9 49
U1 0
U2 20
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD APR
PY 2013
VL 38
IS 5
BP 895
EP 906
DI 10.1038/npp.2012.260
PG 12
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 106RB
UT WOS:000316161300018
PM 23303048
OA Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Zhang, PP
   Wu, WY
   Ma, CF
   Du, CY
   Huang, YR
   Xu, HX
   Li, CC
   Cheng, XF
   Hao, RJ
   Xu, YJ
AF Zhang, Pengpeng
   Wu, Wenyan
   Ma, Chaofeng
   Du, Chunyu
   Huang, Yueru
   Xu, Haixia
   Li, Cencen
   Cheng, Xiaofang
   Hao, Ruijie
   Xu, Yongjie
TI RNA-Binding Proteins in the Regulation of Adipogenesis and Adipose
   Function
SO CELLS
LA English
DT Review
DE RNA-binding protein; post-transcriptional regulation; adipose
ID NUCLEIC-ACID-BINDING; SPLICING FACTOR RBM4; MESSENGER-RNA; ADIPOCYTE
   DIFFERENTIATION; POSTTRANSCRIPTIONAL REGULATION; ALTERNATIVE
   POLYADENYLATION; CANCER CELLS; C/EBP-DELTA; BROWN; SAM68
AB The obesity epidemic represents a critical public health issue worldwide, as it is a vital risk factor for many diseases, including type 2 diabetes (T2D) and cardiovascular disease. Obesity is a complex disease involving excessive fat accumulation. Proper adipose tissue accumulation and function are highly transcriptional and regulated by many genes. Recent studies have discovered that post-transcriptional regulation, mainly mediated by RNA-binding proteins (RBPs), also plays a crucial role. In the lifetime of RNA, it is bound by various RBPs that determine every step of RNA metabolism, from RNA processing to alternative splicing, nucleus export, rate of translation, and finally decay. In humans, it is predicted that RBPs account for more than 10% of proteins based on the presence of RNA-binding domains. However, only very few RBPs have been studied in adipose tissue. The primary aim of this paper is to provide an overview of RBPs in adipogenesis and adipose function. Specifically, the following best-characterized RBPs will be discussed, including HuR, PSPC1, Sam68, RBM4, Ybx1, Ybx2, IGF2BP2, and KSRP. Characterization of these proteins will increase our understanding of the regulatory mechanisms of RBPs in adipogenesis and provide clues for the etiology and pathology of adipose-tissue-related diseases.
C1 [Zhang, Pengpeng; Wu, Wenyan; Du, Chunyu; Huang, Yueru; Xu, Haixia; Li, Cencen; Cheng, Xiaofang; Hao, Ruijie; Xu, Yongjie] Xinyang Normal Univ, Coll Life Sci, Dept Biotechnol, Xinyang 464000, Peoples R China.
   [Zhang, Pengpeng; Wu, Wenyan; Xu, Haixia; Li, Cencen; Cheng, Xiaofang; Hao, Ruijie; Xu, Yongjie] Xinyang Normal Univ, Inst Conservat & Utilizat Agrobioresources Dabie, Xinyang 464000, Peoples R China.
   [Ma, Chaofeng] Xinyang Ctr Anim Dis Control & Prevent, Xinyang 464000, Peoples R China.
C3 Xinyang Normal University; Xinyang Normal University
RP Hao, RJ; Xu, YJ (corresponding author), Xinyang Normal Univ, Coll Life Sci, Dept Biotechnol, Xinyang 464000, Peoples R China.; Hao, RJ; Xu, YJ (corresponding author), Xinyang Normal Univ, Inst Conservat & Utilizat Agrobioresources Dabie, Xinyang 464000, Peoples R China.
EM ppzhang@xynu.edu.cn; wwy@xynu.edu.cn; zhanggavin@webmail.hzau.edu.cn;
   2020210907@xynu.edu.cn; huangyr@xynu.edu.cn; hxxu@xynu.edu.cn;
   licencen@xynu.edu.cn; chengxiaofang@xynu.edu.cn; hrj@xynu.edu.cn;
   xyj@xynu.edu.cn
RI Li, Chenzhao/HHC-7919-2022
OI Zhang, Pengpeng/0000-0001-6499-1198
FU National Natural Science Foundation of China [31601167, 31972537]; Major
   Science and Technology Projects of Henan Province [201300111200];
   Natural Science Foundation of Henan Province [212300410230]; Department
   of Education in Henan Province [21A230017]; Nanhu Scholars Program of
   Xinyang Normal University
FX This work was financially supported by the National Natural Science
   Foundation of China (31601167, 31972537), the Major Science and
   Technology Projects of Henan Province (201300111200), the Natural
   Science Foundation of Henan Province (212300410230), the Department of
   Education in Henan Province (21A230017), and the Nanhu Scholars Program
   of Xinyang Normal University.
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NR 129
TC 19
Z9 22
U1 9
U2 28
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2073-4409
J9 CELLS-BASEL
JI Cells
PD AUG
PY 2022
VL 11
IS 15
AR 2357
DI 10.3390/cells11152357
PG 15
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 3T4PT
UT WOS:000840258900001
PM 35954201
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Kollberg, G
   Melberg, A
   Holme, E
   Oldfors, A
AF Kollberg, Gittan
   Melberg, Atle
   Holme, Elisabeth
   Oldfors, Anders
TI Transient restoration of succinate dehydrogenase activity after
   rhabdomyolysis in iron-sulphur cluster deficiency myopathy
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE ISCU; Mitochondria; Muscle regeneration; Succinate dehydrogenase
   deficiency
ID MUTATION; EXERCISE
AB Myopathy with exercise intolerance and deficiency of iron sulphur cluster proteins is caused by an intronic IVS5+382 G > C mutation in ISCU, the gene encoding the iron sulphur cluster assembly protein (IscU). The mutation causes alternative splicing resulting in a truncated protein and severely reduced levels of IscU protein in muscle tissue. Disease manifestations include muscle fatigability, dyspnoea, cardiac palpitations and episodic myoglobinuria. Muscle tissue of these patients demonstrates marked histochemical succinate dehydrogenase deficiency and accumulation of iron in muscle fibres, which are morphological hallmarks of the disease. A biopsy specimen from a patient, two months after a severe attack of rhabdomyolysis, revealed regenerating muscle with normal succinate dehydrogenase activity and only minor iron accumulation, whereas another biopsy obtained nine years after the episode showed the typical hallmarks of the disease. The apparent explanation for the normal succinate dehydrogenase activity during regeneration was a markedly increased level of IscU protein in regenerating muscle tissue and an increase in normally spliced ISCU transcripts in the patient. The results have implications for diagnosis of the disease based on muscle biopsy findings and support the concept that an increase of normally spliced ISCU by RNA modulating therapy may be a therapeutic possibility for these patients. (C) 2010 Elsevier B.V. All rights reserved.
C1 [Oldfors, Anders] Univ Gothenburg, Sahlgrenska Univ Hosp, Inst Biomed, Dept Pathol, SE-41345 Gothenburg, Sweden.
   [Melberg, Atle] Uppsala Univ, Univ Uppsala Hosp, Dept Neurosci, SE-75185 Uppsala, Sweden.
   [Kollberg, Gittan; Holme, Elisabeth] Univ Gothenburg, Sahlgrenska Univ Hosp, Inst Biomed, Dept Clin Chem, SE-41345 Gothenburg, Sweden.
C3 University of Gothenburg; Sahlgrenska University Hospital; Uppsala
   University; Uppsala University Hospital; Sahlgrenska University
   Hospital; University of Gothenburg
RP Oldfors, A (corresponding author), Univ Gothenburg, Sahlgrenska Univ Hosp, Inst Biomed, Dept Pathol, SE-41345 Gothenburg, Sweden.
EM anders.oldfors@gu.se
OI Oldfors, Anders/0000-0002-5758-7397
FU Swedish Research Council [07122]; Selander Foundation
FX This study was supported by a grant from the Swedish Research Council
   (No. 07122) and the Selander Foundation. The skilful technical
   assistance by Lili Sefi is gratefully acknowledged.
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NR 11
TC 15
Z9 21
U1 2
U2 10
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD FEB
PY 2011
VL 21
IS 2
BP 115
EP 120
DI 10.1016/j.nmd.2010.11.010
PG 6
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 759LJ
UT WOS:000290245200006
PM 21196119
DA 2025-04-10
ER

PT J
AU Steinfeldt, J
   Becker, R
   Vergarajauregui, S
   Engel, FB
AF Steinfeldt, Jakob
   Becker, Robert
   Vergarajauregui, Silvia
   Engel, Felix B.
TI Alternative Splicing of Pericentrin Contributes to Cell Cycle Control in
   Cardiomyocytes
SO JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
LA English
DT Article
DE pericentrin; cardiomyocyte; cell cycle; centrosome; centriole splitting;
   non-centrosomal microtubule organizing center; heart regeneration
ID PROLIFERATION; REGENERATION; HYPERTROPHY; PROTEIN
AB Induction of cardiomyocyte proliferation is a promising option to regenerate the heart. Thus, it is important to elucidate mechanisms that contribute to the cell cycle arrest of mammalian cardiomyocytes. Here, we assessed the contribution of the pericentrin (Pcnt) S isoform to cell cycle arrest in postnatal cardiomyocytes. Immunofluorescence staining of Pcnt isoforms combined with SiRNA-mediated depletion indicates that Pcnt S preferentially localizes to the nuclear envelope, while the Pcnt B isoform is enriched at centrosomes. This is further supported by the localization of ectopically expressed FLAG-tagged Pcnt S and Pcnt B in postnatal cardiomyocytes. Analysis of centriole configuration upon Pcnt depletion revealed that Pcnt B but not Pcnt S is required for centriole cohesion. Importantly, ectopic expression of Pcnt S induced centriole splitting in a heterologous system, ARPE-19 cells, and was sufficient to impair DNA synthesis in C2C12 myoblasts. Moreover, Pcnt S depletion enhanced serum-induced cell cycle re-entry in postnatal cardiomyocytes. Analysis of mitosis, binucleation rate, and cell number suggests that Pcnt S depletion enhances serum-induced progression of postnatal cardiomyocytes through the cell cycle resulting in cell division. Collectively, our data indicate that alternative splicing of Pcnt contributes to the establishment of cardiomyocyte cell cycle arrest shortly after birth.
C1 [Steinfeldt, Jakob; Becker, Robert; Vergarajauregui, Silvia; Engel, Felix B.] Friedrich Alexander Univ Erlangen Nurnberg FAU, Inst Pathol, Dept Nephropathol, Expt Renal & Cardiovasc Res, Schwabachanlage 12, D-91054 Erlangen, Germany.
   [Engel, Felix B.] Muscle Res Ctr Erlangen MURCE, D-91054 Erlangen, Germany.
C3 University of Erlangen Nuremberg; University of Erlangen Nuremberg
RP Engel, FB (corresponding author), Friedrich Alexander Univ Erlangen Nurnberg FAU, Inst Pathol, Dept Nephropathol, Expt Renal & Cardiovasc Res, Schwabachanlage 12, D-91054 Erlangen, Germany.; Engel, FB (corresponding author), Muscle Res Ctr Erlangen MURCE, D-91054 Erlangen, Germany.
EM jakob.steinfeldt@gmail.com; Robert.Becker@uk-erlangen.de;
   Silvia.VergarajaureguiLetamendia@uk-erlangen.de;
   Felix.Engel@uk-erlangen.de
RI Vergarajauregui, Silvia/ABG-8402-2020; Engel, Felix/A-1767-2008
OI Steinfeldt, Jakob/0000-0003-1387-2054; Engel, Felix/0000-0003-2605-3429
FU ELAN Program from the Universitatsklinikum Erlangen
   [ELAN-16-01-04-1-Vergarajauregui]; Deutsche Forschungsgemeinschaft (DFG,
   German Research Foundation) [410/91-1 FUGG, 453/12-1]; Research
   Foundation Medicine at the University Clinic Erlangen, Germany;
   Interdisciplinary Center for Clinical Research Erlangen (IZKF)
FX This work was supported by an ELAN Program Grant
   (ELAN-16-01-04-1-Vergarajauregui to S.V.) from the Universitatsklinikum
   Erlangen, by the Deutsche Forschungsgemeinschaft (DFG, German Research
   Foundation, INST 410/91-1 FUGG and EN 453/12-1 to F.B.E.), and by the
   Research Foundation Medicine at the University Clinic Erlangen, Germany
   (to S.V. and F.B.E.) and by the Interdisciplinary Center for Clinical
   Research Erlangen (IZKF, MD thesis scholarship to J.S.).
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NR 39
TC 6
Z9 8
U1 0
U2 1
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2308-3425
J9 J CARDIOVASC DEV DIS
JI J. Cardiovasc. Dev. Dis.
PD AUG
PY 2021
VL 8
IS 8
AR 87
DI 10.3390/jcdd8080087
PG 16
WC Cardiac & Cardiovascular Systems
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA UG5JR
UT WOS:000689289000001
PM 34436229
OA Green Submitted, Green Published, gold
DA 2025-04-10
ER

PT J
AU Wang, GS
   Kuyumcu-Martinez, MN
   Sarma, S
   Mathur, N
   Wehrens, XHT
   Cooper, TA
AF Wang, Guey-Shin
   Kuyumcu-Martinez, Muge N.
   Sarma, Satyam
   Mathur, Nitin
   Wehrens, Xander H. T.
   Cooper, Thomas A.
TI PKC inhibition ameliorates the cardiac phenotype in a mouse model of
   myotonic dystrophy type 1
SO JOURNAL OF CLINICAL INVESTIGATION
LA English
DT Article
ID PROTEIN-KINASE-C; BINDING PROTEIN; MUSCLEBLIND PROTEINS;
   SKELETAL-MUSCLE; NUCLEAR FOCI; IN-VIVO; RNA; CUGBP1; CONTRACTILITY;
   REPEATS
AB Cardiac complications are a common cause of death in individuals with the inherited multisystemic disease myotonic dystrophy type 1 (DM1). A characteristic molecular feature of DM1 is misregulated alternative splicing due to disrupted functioning of the splicing regulators muscleblind-like I (MBNL1) and CUG-binding protein 1 (CUGBP1). CUGBP1 is upregulated in DM1 due to PKC pathway activation and subsequent CUGBP1 protein hyperphosphorylation and stabilization. Here, we blocked PKC activity in a heart-specific DM1 mouse model to determine its pathogenic role in DM1. Animals given PKC inhibitors exhibited substantially increased survival that correlated with reduced phosphorylation and decreased steady-state levels of CUGBP1. Functional studies demonstrated that PKC inhibition ameliorated the cardiac conduction defects and contraction abnormalities found in this mouse model. The inhibitor also reduced misregulation of splicing events regulated by CUGBP1 but not those regulated by MBNL1, suggesting distinct roles for these proteins in DM1 cardiac pathogenesis. The PKC inhibitor did not reduce mortality in transgenic mice with heart-specific CUGBP1 upregulation, indicating that PKC inhibition did not have a general protective effect on PKC-independent CUGBP1 increase. Our results suggest that pharmacological blockade of PKC activity mitigates the DM1 cardiac phenotype and provide strong evidence for a role for the PKC pathway in DM1 pathogenesis.
C1 [Wang, Guey-Shin; Kuyumcu-Martinez, Muge N.; Cooper, Thomas A.] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
   [Sarma, Satyam; Mathur, Nitin; Wehrens, Xander H. T.] Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA.
   [Sarma, Satyam; Mathur, Nitin; Wehrens, Xander H. T.] Baylor Coll Med, Dept Med Cardiol, Houston, TX 77030 USA.
   [Cooper, Thomas A.] Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA.
C3 Baylor College of Medicine; Baylor College of Medicine; Baylor College
   of Medicine; Baylor College of Medicine
RP Cooper, TA (corresponding author), Baylor Coll Med, Dept Pathol, BCM 315,1 Baylor Plaza, Houston, TX 77030 USA.
EM tcooper@bcm.edu
RI Sarma, Satyam/JXW-8015-2024; Wehrens, Xander/AAQ-9574-2020; Wang,
   Guey-Shin/Q-3968-2018
OI Wang, Guey-Shin/0000-0003-4485-1811; Wehrens,
   Xander/0000-0001-5044-672X; Sarma, Satyam/0000-0002-0628-4919
FU NIH [R01 AR45653]; Muscular Dystrophy Association; American Heart
   Association; American Heart Association Scientisr Development; NIH; W.M.
   Keck Foundation; NIH/National Heart, Lung and Blood Institute
   [HL089598-01, R01HL091947]; Muscular Dystrophy Association [69238];
   Hankamer Foundation
FX This work was supported by grants from the NIH (R01 AR45653, to T.A.
   Cooper) and the Muscular Dystrophy Association (to T.A. Cooper), an
   American Heart Association postdoctoral fellowship (to G.-S. Wang), and
   an American Heart Association Scientisr Development grant (to M.N.
   Kuyumcu-Martinez). M.N. Kuyum-Martinez was the recipient of a
   postdoctoral National Research Service Award from the NIH and a
   development grant from Muscular Dystrophy Association. X.H.T. Wehrens is
   a W.M. Keck Foundation distinguished young scholar in medical research
   and is Supported by grants from the NIH/National Heart, Lung and Blood
   Institute (HL089598-01, R01HL091947), Muscular Dystrophy Association
   (69238), and the Hankamer Foundation.
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TC 81
Z9 91
U1 0
U2 6
PU AMER SOC CLINICAL INVESTIGATION INC
PI ANN ARBOR
PA 2015 MANCHESTER RD, ANN ARBOR, MI 48104 USA
SN 0021-9738
EI 1558-8238
J9 J CLIN INVEST
JI J. Clin. Invest.
PD DEC
PY 2009
VL 119
IS 12
BP 3797
EP 3806
DI 10.1172/JCI37976
PG 10
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA 527SI
UT WOS:000272386400027
PM 19907076
OA Green Published, Green Accepted, Bronze
DA 2025-04-10
ER

PT J
AU Burkin, DJ
   Gu, MJ
   Hodges, BL
   Campanelli, JT
   Kaufman, SJ
AF Burkin, DJ
   Gu, MJ
   Hodges, BL
   Campanelli, JT
   Kaufman, SJ
TI A functional role for specific spliced variants of the α7β1 integrin in
   acetylcholine receptor clustering
SO JOURNAL OF CELL BIOLOGY
LA English
DT Article
DE integrin; laminin; acetylcholine receptor; agrin; alpha 7 beta 1
ID SKELETAL-MUSCLE; NEUROMUSCULAR-JUNCTION; CYTOPLASMIC DOMAINS;
   CARDIAC-MUSCLE; EXPRESSION; LAMININ; MYOGENESIS; MYOBLASTS; AGRIN;
   ISOFORM
AB The clustering of acetylcholine receptors (AChR) on skeletal muscle fibers is an early event in the formation of neuromuscular junctions. Recent studies show that laminin as well as agrin can induce AChR clustering. Since the alpha 7 beta 1 integrin is a major laminin receptor in skeletal muscle, we determined if this integrin participates in laminin and/or agrin-induced AChR clustering. The alternative cytoplasmic domain variants, alpha 7A and alpha 7B, and the extracellular spliced forms, alpha 7X1 and alpha 7X2, were studied for their ability to engage in AChR clustering. Immunofluorescence microscopy of C2C12 myofibers shows that the alpha 7 beta 1 integrin colocalizes with laminin-induced AChR clusters and to a much lesser extent with agrin-induced AChR clusters. However, together laminin and agrin promote a synergistic response and all AChR colocalize with the integrin. Laminin also induces the physical association of the integrin and AChR. High concentrations of anti-alpha 7 antibodies inhibit colocalization of the integrin with AChR clusters as well as the enhanced response promoted by both laminin and agrin. Engaging the integrin with low concentrations of anti-alpha 7 antibody initiates cluster formation in the absence of agrin or laminin. Whereas both the alpha 7A and alpha 7B cytoplasmic domain variants cluster with AChR, only those isoforms containing the alpha 7X2 extracellular domain were active. These results demonstrate that the alpha 7 beta 1 integrin has a physiologic role in laminin-induced AChR clustering, that alternative splicing is integral to this function of the alpha 7 chain, and that laminin, agrin, and the alpha 7 beta 1 integrin interact in a common or convergent pathway in the formation of neuromuscular junctions.
C1 Univ Illinois, Dept Cell & Struct Biol, Chem & Life Sci Lab B107, Urbana, IL 61801 USA.
   Univ Illinois, Dept Biochem, Urbana, IL 61801 USA.
C3 University of Illinois System; University of Illinois Urbana-Champaign;
   University of Illinois System; University of Illinois Urbana-Champaign
RP Univ Illinois, Dept Cell & Struct Biol, Chem & Life Sci Lab B107, Urbana, IL 61801 USA.
EM stephenk@uiuc.edu
RI Burkin, Dean/ABC-4395-2021
OI Burkin, Dean/0000-0001-9228-5258
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NR 41
TC 72
Z9 87
U1 0
U2 3
PU ROCKEFELLER UNIV PRESS
PI NEW YORK
PA 950 THIRD AVE, 2ND FLR, NEW YORK, NY 10022 USA
SN 0021-9525
EI 1540-8140
J9 J CELL BIOL
JI J. Cell Biol.
PD NOV 16
PY 1998
VL 143
IS 4
BP 1067
EP 1075
DI 10.1083/jcb.143.4.1067
PG 9
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 141NJ
UT WOS:000077149800016
PM 9817762
OA Green Submitted, Bronze, Green Published
DA 2025-04-10
ER

PT J
AU Zhang, PB
   Karani, R
   Turner, RL
   Dufresne, C
   Ferri, S
   Van Eyk, JE
   Semba, RD
AF Zhang, Pingbo
   Karani, Rabia
   Turner, Randi L.
   Dufresne, Craig
   Ferri, Sara
   Van Eyk, Jennifer E.
   Semba, Richard D.
TI The proteome of normal human retrobulbar optic nerve and sclera
SO PROTEOMICS
LA English
DT Article
DE Biomedicine; Eye; Human; Optic nerve; Sclera
ID STATISTICAL-MODEL; MYOPIA; PROTEINS
AB The optic nerve is a white matter tract that conveys visual information to the brain. The sclera comprises the white, protective outer layer of the eye. A characterization of the proteome of normal human retrobulbar optic nerve and sclera may facilitate studies of the eye. We conducted a proteomic analysis of optic nerve and sclera from five adults. Proteins were fractionated using SDS-PAGE. After in-gel digestion, peptides were analyzed using LC-MS/MS on an Orbitrap Elite mass spectrometer. We identified 2711 non-redundant proteins in retrobulbar optic nerve and 1945 non-redundant proteins in sclera. Optic nerve proteins included proteins expressed by oligodendrocytes (laminin, proteolipid protein, fibronectin), myelin proteins (myelin basic protein, myelin-associated glycoprotein), and paranodal structural proteins (ankyrin , spectrin). Sclera included 18 collagen protein chains, small leucine-rich proteoglycans (decorin, biglycan, lumican, keratocan, prolargin, fibromodulin, mimecan), non-collagenous glycoproteins (fibronectin, vitronectin, laminin), extracellular matrix proteins (thrombospondins 1-4, dystroglycan, transgelins 1-3), and integrins alpha-V, alpha-1 and 2, beta-1, -2, and -5. Twenty-one unambiguous alternative splicing protein isoforms were identified in optic nerve and ten unambiguous alternative splicing protein isoforms were identified in sclera. The mass spectrometry proteomics data have been deposited to the ProteomeXchange Consortium via the PRIDE partner repository with the dataset identifier PXD001581.
C1 [Zhang, Pingbo; Karani, Rabia; Turner, Randi L.; Semba, Richard D.] Johns Hopkins Univ, Sch Med, Dept Ophthalmol, Baltimore, MD 21205 USA.
   [Dufresne, Craig] Thermo Fisher Sci, W Palm Beach, FL USA.
   [Ferri, Sara] Rochester Eye Associates, Rochester, NY USA.
   [Van Eyk, Jennifer E.] Inst Heart, Adv Clin BioSyst Res Inst, Los Angeles, CA USA.
   [Van Eyk, Jennifer E.] Cedars Sinai Med Ctr, Dept Med, Los Angeles, CA 90048 USA.
C3 Johns Hopkins University; Thermo Fisher Scientific; Cedars Sinai Medical
   Center
RP Semba, RD (corresponding author), Wilmer Eye Inst, Smith Bldg,M015,400 N Broadway, Baltimore, MD 21287 USA.
EM rdsemba@jhmi.edu
OI Van Eyk, Jennifer/0000-0001-9050-148X
FU National Institutes of Health [R01 EY024596, R01 AG027012]; Joint King
   Khaled Eye Specialist Hospital; Wilmer Eye Institute Research Grant
   Program; Edward N. and Della L. Thome Memorial Foundation; Research to
   Prevent Blindness
FX This work was supported by the National Institutes of Health grants R01
   EY024596, R01 AG027012, the Joint King Khaled Eye Specialist Hospital
   and Wilmer Eye Institute Research Grant Program, the Edward N. and Della
   L. Thome Memorial Foundation, and Research to Prevent Blindness.
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NR 20
TC 16
Z9 16
U1 0
U2 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1615-9853
EI 1615-9861
J9 PROTEOMICS
JI Proteomics
PD OCT
PY 2016
VL 16
IS 19
SI SI
BP 2592
EP 2596
DI 10.1002/pmic.201600229
PG 5
WC Biochemical Research Methods; Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA DZ4FT
UT WOS:000385814700009
PM 27538499
DA 2025-04-10
ER

PT J
AU Nongthomba, U
   Ansari, M
   Thimmaiya, D
   Stark, M
   Sparrow, J
AF Nongthomba, Upendra
   Ansari, Maqsood
   Thimmaiya, Divesh
   Stark, Meg
   Sparrow, John
TI Aberrant splicing of an alternative exon in the Drosophila troponin-T
   gene affects flight muscle development
SO GENETICS
LA English
DT Article
ID ALPHA-ACTIN GENE; CARDIAC TROPONIN; NEMALINE MYOPATHY; INSECT MUSCLE;
   MUTATIONS; MELANOGASTER; CONTRACTION; EXPRESSION; PROTEIN;
   MYOFIBRILLOGENESIS
AB During myofibrillogenesis, many muscle structural proteins assemble to form the highly ordered contractile sarcomere. Mutations in these proteins can lead to dysfunctional muscle and various myopathies. We have analyzed the Drosophila melanogaster troponin T (TnT) up' mutant that specifically affects the indirect flight muscles (IFM) to explore troponin function during myofibrillogenesis. The up' muscles lack normal sarcomeres and contain "zebra bodies," a phenotypic feature of human nemaline myopathies. We show that the up' mutation causes defective splicing of a newly identified alternative TnTexon (10a) that encodes part of the TnT C terminus. This exon is used to generate a TnT isoform specific to the IFM and jump muscles, which during IFM development replaces the exon I Ob isoform. Functional differences between the 10a and 10b TnT isoforms may be due to different potential phosphorylation sites, none of which correspond to known phosphorylation sites in human cardiac TnT. The absence of TnT mRNA in up' IFM reduces mRNA levels of an IFM-specific troponin I (TnI) isoform, but not actin, tropomyosin, or troponin C, suggesting a mechanism controlling expression of TnTand TnI genes may exist that must be examined in the context of human myopathies caused by mutations of these thin filament proteins.
C1 Univ York, Dept Biol, York YO10 5DD, N Yorkshire, England.
   Indian Inst Sci, Mol Reprod Dev & Genet, Bangalore 560012, Karnataka, India.
C3 University of York - UK; Indian Institute of Science (IISC) - Bangalore
RP Sparrow, J (corresponding author), Univ York, Dept Biol, York YO10 5DD, N Yorkshire, England.
EM jcs1@york.ac.uk
RI Nongthomba, Upendra/AAY-3009-2021
OI Nongthomba, Upendra/0000-0002-0616-5995
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NR 59
TC 45
Z9 47
U1 1
U2 7
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 0016-6731
EI 1943-2631
J9 GENETICS
JI Genetics
PD SEP
PY 2007
VL 177
IS 1
BP 295
EP 306
DI 10.1534/genetics.106.056812
PG 12
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 218XM
UT WOS:000250049300024
PM 17603127
OA Green Published
DA 2025-04-10
ER

PT J
AU Wang, Q
   Sun, R
   Wu, LY
   Huang, JF
   Wang, P
   Yuan, HL
   Qiu, FF
   Xu, XH
   Wu, D
   Yu, Y
   Liu, X
   Zhang, Q
AF Wang, Qiong
   Sun, Rui
   Wu, Leyan
   Huang, Junfeng
   Wang, Ping
   Yuan, Hailong
   Qiu, Feifei
   Xu, Xiaohong
   Wu, Di
   Yu, Ying
   Liu, Xin
   Zhang, Qing
TI Identification and characterization of an alternative splice variant of
   Mpl with a high affinity for TPO and its activation of ERK1/2 signaling
SO INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
LA English
DT Article
DE Mpl splice variant; Binding affinity; ERK1/2 signals; mRNA expression
   levels; Active conformation
ID PROTEIN-KINASE PATHWAY; CELL-CYCLE ARREST; C-MPL; ERYTHROPOIETIN
   RECEPTOR; THROMBOPOIETIN RECEPTOR; MEMBRANE-PROTEINS; MESSENGER-RNA;
   IN-VIVO; DIFFERENTIATION; BINDING
AB The thrombopoietin receptor is a crucial element in thrombopoietin-initiated signaling pathways, which stimulates the differentiation of normal hematopoietic progenitor cells, the maturation of megakaryocytes, and the generation of platelets. In this study, we identified a novel activating variant of thrombopoietin receptor, termed Mpl-D, in human megakaryoblastic leukemia Dami cells and demonstrated that the binding affinity of the Mpl-D receptor for thrombopoietin is enhanced. Cell cycle analysis revealed that in the presence of thrombopoietin, most Mpl-D expressing NIH3T3 (NIH3T3/Mpl-D) cells were prevalent in G1 phase while the S and G2/M populations were less frequently observed. Unexpectedly, thrombopoietin induced strong and prolonged ERK1/2 signaling in NIH3T3/Mpl-D cells compared with its receptor wild-type expressing NIH3T3 (NIH3T3/Mpl-F) cells. Further analysis of the mRNA levels of cyclin D1/D2 in NIH3T3/Mpl-D cells demonstrated markedly down-regulated expression compared to NIH3T3/Mpl-F cells in the presence of thrombopoietin. Thus, the prolonged activation of ERK1/2 by Mpl-D might lead to G1 cell cycle arrest through a profound reduction of cyclin D1/D2 in order to support cell survival without proliferation. We also provided tertiary structural basis for the Mpl-D and thrombopoietin interaction, which might provide insights into how Mpl-D effectively increases binding to thrombopoietin and significantly contributes to its specific signaling pathway. These results suggest a new paradigm for the regulation of cytokine receptor expression and function through the alternative splicing variant of Mpl in Dami cells, which may play a role in the pathogenesis of megakaryoblastic leukemia. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Wang, Qiong; Wu, Leyan; Huang, Junfeng; Wang, Ping; Yuan, Hailong; Qiu, Feifei; Wu, Di; Yu, Ying; Liu, Xin; Zhang, Qing] Sun Yat Sen Univ, Sch Life Sci, Key Lab Biocontrol, Guangzhou 510275, Guangdong, Peoples R China.
   [Sun, Rui] Sun Yat Sen Univ, Ctr Canc, State Key Lab Oncol Southern China, Guangzhou 510275, Guangdong, Peoples R China.
   [Xu, Xiaohong] Guangzhou Univ Chinese Med, Sch Clin Med 2, Guangzhou, Guangdong, Peoples R China.
   [Zhang, Qing] Inst Sun Yat Sen Univ Shenzhe, Shenzhen, Peoples R China.
C3 Sun Yat Sen University; Sun Yat Sen University; State Key Lab Oncology
   South China; Guangzhou University of Chinese Medicine
RP Zhang, Q (corresponding author), Sun Yat Sen Univ, Sch Life Sci, Key Lab Biocontrol, Guangzhou 510275, Guangdong, Peoples R China.
EM Isszq@mail.sysu.edu.cn
RI 孙, 瑞泽/HZH-5586-2023; wu, di/IYS-9217-2023; Wang, Ping/N-4857-2017
OI ZHANG, QING/0000-0003-3522-1471
FU National Natural Science Foundation of China [30570785, 30770923]
FX This work was supported by National Natural Science Foundation of China
   Grant 30570785 and 30770923.
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NR 48
TC 9
Z9 10
U1 0
U2 26
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 1357-2725
EI 1878-5875
J9 INT J BIOCHEM CELL B
JI Int. J. Biochem. Cell Biol.
PD DEC
PY 2013
VL 45
IS 12
BP 2852
EP 2863
DI 10.1016/j.biocel.2013.09.010
PG 12
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 277HD
UT WOS:000328808700015
PM 24144576
DA 2025-04-10
ER

PT J
AU Wen, R
   Yang, D
   Wang, KK
   Zan, XJ
AF Wen, Rui
   Yang, Dong
   Wang, Kangkang
   Zan, Xingjie
TI Characterization of two full-length Araneus ventricosus major
   ampullate silk protein genes
SO INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
LA English
DT Article
DE MaSp; Alternative splicing; Araneus ventricosus
ID DRAGLINE SILK; MULTIPLE LOCI; FIBERS SPUN; SPIDER; SEQUENCE; DIVERSITY;
   FIBROIN; SELECTION
AB Major ampullate silk is noted for its great tensile strength and extensibility. The impressive material properties of major ampullate silk result from their component proteins that encoded by members of the spidroin (spider fibroin) gene family. Although the major ampullate spidroin type has evolved multiple variants within specific-species, most sequences are fragmented. Here, we present two complete major ampullate spidroin genes from the orb-weaving spider Araneus ventricosus. Due to the abundant GPG motifs in their repetitive region, the two MaSp genes were grouped in MaSp2 subclass and named MaSp2C and MaSp2D, respectively. Analysis of the full-length gene sequences reveals that both of them include a single enormous exon (10,851 bp for MaSp2C and 8640 bp for MaSp2D) that mainly translates into a central repetitive region containing multiple amino acid motifs that can be organized into five ensemble types. We use gene-specific PCR primers to search the cDNA from major ampullate glands and find evidence for alternative splicing of MaSp2D transcripts into a minor spliceoform lacking the entire repetitive domain as well as the partial terminal regions. Our results not only provide new templates for protein-based materials with tailored properties, but suggest gene and transcriptional diversity of major ampullate silk.
C1 [Wen, Rui; Yang, Dong; Zan, Xingjie] Wenzhou Med Univ, Eye Hosp, Sch Ophthalmol & Optometry, Wenzhou 325035, Zhejiang, Peoples R China.
   [Wen, Rui; Wang, Kangkang; Zan, Xingjie] Univ Chinese Acad Sci, Wenzhou Inst, Oujiang Lab, Wenzhou Key Lab Perioperat Med, Wenzhou 325000, Zhejiang, Peoples R China.
   [Wen, Rui; Zan, Xingjie] Wenzhou Med Univ, Sch Biomed Engn, Wenzhou 325035, Zhejiang, Peoples R China.
C3 Wenzhou Medical University; Oujiang Laboratory; Chinese Academy of
   Sciences; University of Chinese Academy of Sciences, CAS; Wenzhou
   Medical University
RP Wen, R; Zan, XJ (corresponding author), Wenzhou Med Univ, Eye Hosp, Sch Ophthalmol & Optometry, Wenzhou 325035, Zhejiang, Peoples R China.
EM wenr@ucas.ac.cn; zanxj@wibe.ac.cn
RI Yang, Dong/F-1695-2016; Yang, Dong/M-3462-2017
OI Yang, Dong/0000-0002-0518-019X
FU China Postdoctoral Science Foundation [2021M703165]; Wenzhou Key
   Laboratory of Perioperative Medicine [2021HZSY0069]; Wenzhou Institute,
   University of Chinese Academy of Science [WIUCASQD2019009]
FX The research was funded by China Postdoctoral Science Foundation
   (2021M703165) , Start-up Funding from Wenzhou Key Laboratory of
   Perioperative Medicine (2021HZSY0069) and Wenzhou Institute, University
   of Chinese Academy of Science (WIUCASQD2019009) .
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NR 48
TC 2
Z9 2
U1 2
U2 15
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 0141-8130
EI 1879-0003
J9 INT J BIOL MACROMOL
JI Int. J. Biol. Macromol.
PD JUL 31
PY 2022
VL 213
BP 297
EP 304
DI 10.1016/j.ijbiomac.2022.05.178
EA JUN 2022
PG 8
WC Biochemistry & Molecular Biology; Chemistry, Applied; Polymer Science
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Chemistry; Polymer Science
GA 3I7EF
UT WOS:000832874400002
PM 35654219
DA 2025-04-10
ER

PT J
AU Zheng, XL
   Chung, D
   Takayama, TK
   Majerus, EM
   Sadler, JE
   Fujikawa, K
AF Zheng, XL
   Chung, D
   Takayama, TK
   Majerus, EM
   Sadler, JE
   Fujikawa, K
TI Structure of von Willebrand factor-cleaving protease (ADAMTS13), a
   metalloprotease involved in thrombotic thrombocytopenic purpura
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID CYSTEINE SWITCH; CDNA-CLONES; HUMAN GENES; IDENTIFICATION; PROCOLLAGEN;
   THROMBOSPONDIN-1; AGGRECANASE-1; PURIFICATION; PREDICTION; PROTEINS
AB Thrombotic thrombocytopenic purpura is associated with acquired or congenital deficiency of a plasma von Willebrand factor-cleaving protease (VWFCP). Based on partial amino acid sequence, VWFCP was identified recently as a new member of the ADAMTS family of metalloproteases and designated ADAMTS13. The 4.6-kilo-base pair cDNA sequence for VWFCP has now been determined. By Northern blotting, full-length VWFCP mRNA was detected only in liver. VWFCP consists of 1427 amino acid residues and has a signal peptide, a short propeptide terminating in the sequence RQRR, a reprolysin-like metalloprotease domain, a disintegrin-like domain, a thrombospondin-1 repeat, a Cys-rich domain, an ADAMTS spacer, seven additional thrombospondin-1 repeats, and two CUB domains. VWFCP apparently is made as a zymogen that requires proteolytic activation, possibly by furin intracellularly. Sites for Zn2+ and Ca2+ ions are conserved in the protease domain. The Cys-rich domain contains an RGDS sequence that could mediate integrin-dependent binding to platelets or other cells. Alternative splicing gives rise to at least seven potential variants that truncate the protein at different positions after the protease domain. Alternative splicing may have functional significance, producing proteins with distinct abilities to interact with cofactors, connective tissue, platelets, and von Wiliebrand factor.
C1 Washington Univ, Sch Med, Howard Hughes Med Inst, St Louis, MO 63110 USA.
   Washington Univ, Sch Med, Dept Biochem & Mol Biophys, St Louis, MO 63110 USA.
   Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA.
   Washington Univ, Sch Med, Dept Pathol, St Louis, MO 63110 USA.
   Univ Washington, Dept Biochem, Seattle, WA 98195 USA.
   Univ Washington, Dept Urol, Seattle, WA 98195 USA.
C3 Howard Hughes Medical Institute; Washington University (WUSTL);
   Washington University (WUSTL); Washington University (WUSTL); Washington
   University (WUSTL); University of Washington; University of Washington
   Seattle; University of Washington; University of Washington Seattle
RP Washington Univ, Sch Med, Howard Hughes Med Inst, 660 S Euclid Ave,Box 8022, St Louis, MO 63110 USA.
EM esadler@im.wustl.edu
RI Zheng, X. Long/ABD-7362-2021; Sadler, Evan/D-8556-2011
OI Zheng, X. Long/0000-0003-1680-5295; Sadler, J. Evan/0000-0001-5705-469X;
   Chung, Dominic/0000-0002-2645-5703
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NR 49
TC 667
Z9 751
U1 1
U2 37
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD NOV 2
PY 2001
VL 276
IS 44
BP 41059
EP 41063
DI 10.1074/jbc.C100515200
PG 5
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 488FM
UT WOS:000171925600092
PM 11557746
OA hybrid
DA 2025-04-10
ER

PT J
AU Dircksen, H
   Böcking, D
   Heyn, U
   Mandel, C
   Chung, JS
   Baggerman, G
   Verhaert, P
   Daufeldt, S
   Plösch, T
   Jaros, PP
   Waelkens, E
   Keller, R
   Webster, SG
AF Dircksen, H
   Böcking, D
   Heyn, U
   Mandel, C
   Chung, JS
   Baggerman, G
   Verhaert, P
   Daufeldt, S
   Plösch, T
   Jaros, PP
   Waelkens, E
   Keller, R
   Webster, SG
TI Crustacean hyperglycaemic hormone (CHH)-like peptides and
   CHH-precursor-related peptides from pericardial organ neurosecretory
   cells in the shore crab, Carcinus maenas, are putatively spliced
   and modified products of multiple genes
SO BIOCHEMICAL JOURNAL
LA English
DT Article
DE alternative splicing; immunocytochemistry; neuropeptide; neurosecretion
ID MOLT-INHIBITING HORMONE; AMINO-ACID-SEQUENCE; NERVOUS-SYSTEM;
   ION-TRANSPORT; MOLECULAR CHARACTERIZATION; PENAEUS-MONODON;
   MESSENGER-RNAS; CLONING; EXPRESSION; CDNA
AB About 24 intrinsic neurosecretory neurons within the pericardial organs (POs) of the crab Carcinus maenas produce a novel crustacean hyperglycaemic hormone (CHH)-like peptide (PO-CHH) and two CHH-precursor-related peptides (PO-CPRP I and II) as identified immunochemically and by peptide chemistry. Edman sequencing and MS revealed PO-CHH as a 73 amino acid peptide (8630 Da) with a free C-terminus, PO-CHH and sinus gland CHH (SG-CHH) share an identical N-terminal sequence, positions 1-40, but the remaining sequence, positions 41-73 or 41-72, differs considerably. PO-CHH may have different precursors, as cDNA cloning of PO-derived mRNAs has revealed several similar forms, one exactly encoding the peptide. All PO-CHH cDNAs contain a nucleotide stretch coding fur the SG-CHH41-76 sequence in the 3'-untranslated region (UTR). Cloning of crab testis genomic DNA revealed at least four CHH genes, the structure of which suggest that PO-CHH and SG-CHH arise by alternative splicing of precursors acid possibly post-transcriptional modification of PO-CHH. The genes encode four exons, separated by three variable introns, encoding part of a signal peptide (exon I), the remaining signal peptide residues. a CPRP, the PO-CHH1-40/SG-CHH1-40 sequences (exon II), the remaining PO-CHH residues (exon III) and the remaining SG-CHH residues acid a 3'-UTR (exon IV), Precursor and gene structures are more closely related to those encoding related insect ion-transport peptides than to penaeid shrimp CHH genes. PO-CHH neither exhibits hyperglycaemic activity in vivo, nor does it inhibit Y-organ ecdysteroid synthesis in vitro. From the morphology of the neurons it seems likely that novel functions remain to be discovered.
C1 Univ Bonn, Inst Zoophysiol, D-53115 Bonn, Germany.
   Univ Wales, Sch Biol Sci, Bangor, Gwynedd, Wales.
   Katholieke Univ Leuven, Lab Dev Physiol & Mol Biol, Louvain, Belgium.
   Univ Bonn, Inst Klin Biochem, Bonn, Germany.
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   Katholieke Univ Leuven, Biochem Lab, Louvain, Belgium.
C3 University of Bonn; Bangor University; KU Leuven; University of Bonn;
   Carl von Ossietzky Universitat Oldenburg; KU Leuven
RP Univ Bonn, Inst Zoophysiol, Endenicher Allee 11-13, D-53115 Bonn, Germany.
EM Dircksen@uni-bonn.de
RI Chung, J.Sook/D-3832-2012; Plösch, Torsten/X-6808-2019; Verhaert,
   Peter/LZH-4928-2025; Dircksen, Heinrich/C-7704-2013
OI Plosch, Torsten/0000-0002-9305-4045; Verhaert,
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   Dircksen, Heinrich/0000-0001-7815-4868
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NR 50
TC 122
Z9 133
U1 0
U2 10
PU PORTLAND PRESS LTD
PI LONDON
PA 5TH FLR, 90 HIGH HOLBORN, LONDON WC1V 6LJ, ENGLAND
SN 0264-6021
EI 1470-8728
J9 BIOCHEM J
JI Biochem. J.
PD MAY 15
PY 2001
VL 356
BP 159
EP 170
DI 10.1042/0264-6021:3560159
PN 1
PG 12
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 438LX
UT WOS:000169056200019
PM 11336648
OA Green Published, Green Submitted
DA 2025-04-10
ER

PT J
AU Macdonald, PJ
   Francy, CA
   Stepanyants, N
   Lehman, L
   Baglio, A
   Mears, JA
   Qi, X
   Ramachandran, R
AF Macdonald, Patrick J.
   Francy, Christopher A.
   Stepanyants, Natalia
   Lehman, Lance
   Baglio, Anthony
   Mears, Jason A.
   Qi, Xin
   Ramachandran, Rajesh
TI Distinct Splice Variants of Dynamin-related Protein 1 Differentially
   Utilize Mitochondrial Fission Factor as an Effector of Cooperative
   GTPase Activity
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
DE alternative splicing; cardiolipin; fluorescence resonance energy
   transfer (FRET); GTPase; mitochondria; dynamin-related protein 1;
   isoforms; mitochondrial dynamics; mitochondrial fission factor
ID PLECKSTRIN HOMOLOGY DOMAIN; CONFORMATIONAL-CHANGES; STRUCTURAL INSIGHTS;
   CRYSTAL-STRUCTURE; DRP1 RECRUITMENT; MEMBRANE; MID51; MFF; CURVATURE;
   MID49
AB Multiple isoforms of the mitochondrial fission GTPase dynamin-related protein 1 (Drp1) arise from the alternative splicing of its single gene-encoded pre-mRNA transcript. Among these, the longer Drp1 isoforms, expressed selectively in neurons, bear unique polypeptide sequences within their GTPase and variable domains, known as the A-insert and the B-insert, respectively. Their functions remain unresolved. A comparison of the various biochemical and biophysical properties of the neuronally expressed isoforms with that of the ubiquitously expressed, and shortest, Drp1 isoform (Drp1-short) has revealed the effect of these inserts on Drp1 function. Utilizing various biochemical, biophysical, and cellular approaches, we find that the A- and B-inserts distinctly alter the oligomerization propensity of Drp1 in solution as well as the preferred curvature of helical Drp1 self-assembly on membranes. Consequently, these sequences also suppress Drp1 cooperative GTPase activity. Mitochondrial fission factor (Mff), a tail-anchored membrane protein of the mitochondrial outer membrane that recruits Drp1 to sites of ensuing fission, differentially stimulates the disparate Drp1 isoforms and alleviates the autoinhibitory effect imposed by these sequences on Drp1 function. Moreover, the differential stimulatory effects of Mff on Drp1 isoforms are dependent on the mitochondrial lipid, cardiolipin (CL). Although Mff stimulation of the intrinsically cooperative Drp1-short isoform is relatively modest, CL-independent, and even counter-productive at high CL concentrations, Mff stimulation of the much less cooperative longest Drp1 isoform (Drp1-long) is robust and occurs synergistically with increasing CL content. Thus, membrane-anchored Mff differentially regulates various Drp1 isoforms by functioning as an allosteric effector of cooperative GTPase activity.
C1 [Macdonald, Patrick J.; Stepanyants, Natalia; Lehman, Lance; Baglio, Anthony; Qi, Xin; Ramachandran, Rajesh] Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USA.
   [Francy, Christopher A.; Mears, Jason A.] Case Western Reserve Univ, Sch Med, Dept Pharmacol, Cleveland, OH 44106 USA.
   [Francy, Christopher A.; Mears, Jason A.; Qi, Xin] Case Western Reserve Univ, Sch Med, Ctr Mitochondrial Dis, Cleveland, OH 44106 USA.
   [Francy, Christopher A.; Mears, Jason A.; Ramachandran, Rajesh] Case Western Reserve Univ, Sch Med, Cleveland Ctr Membrane & Struct Biol, Cleveland, OH 44106 USA.
C3 University System of Ohio; Case Western Reserve University; University
   System of Ohio; Case Western Reserve University; University System of
   Ohio; Case Western Reserve University; University System of Ohio; Case
   Western Reserve University
RP Ramachandran, R (corresponding author), 10900 Euclid Ave, Cleveland, OH 44106 USA.
EM rxr275@case.edu
RI Mears, Jason/IXW-7059-2023; Qi, Xin/D-1512-2013; Ramachandran,
   Rajesh/A-1337-2011
OI Ramachandran, Rajesh/0000-0002-4645-2841; Mears,
   Jason/0000-0002-5199-4872; Qi, Xin/0000-0002-9578-3890; Macdonald,
   Patrick/0000-0002-4641-954X
FU American Heart Association (AHA) [13BGIA14810010]; AHA Scientist
   Development Grant [12SDG9130039]; National Institutes of Health R01
   Grant [NS088192]; National Institutes of Health Training Grant
   [2T32GM008803-11A1]; American Heart Association (AHA) [12SDG9130039,
   13BGIA14810010] Funding Source: American Heart Association (AHA)
FX This study was supported by American Heart Association (AHA) Beginning
   Grant-in-Aid (13BGIA14810010) (to R. R.). This work is also supported by
   the AHA Scientist Development Grant (12SDG9130039) (to J. A. M.),
   National Institutes of Health R01 Grant NS088192 (to X. Q.), and
   National Institutes of Health Training Grant 2T32GM008803-11A1 (to C. A.
   F.). The authors declare that they have no conflicts of interest with
   the contents of this article. The content is solely the responsibility
   of the author and does not necessarily represent the official views of
   the National Institutes of Health.
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PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD JAN 1
PY 2016
VL 291
IS 1
BP 493
EP 507
DI 10.1074/jbc.M115.680181
PG 15
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA DA1XP
UT WOS:000367589500043
PM 26578513
OA Green Published
DA 2025-04-10
ER

PT J
AU Cao, J
   Routh, AL
   Kuyumcu-Martinez, MN
AF Cao, Jun
   Routh, Andrew L.
   Kuyumcu-Martinez, Muge N.
TI Nanopore sequencing reveals full-length Tropomyosin 1 isoforms and their
   regulation by RNA-binding proteins during rat heart development
SO JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
LA English
DT Article
DE alternative splicing; heart development; long-read DNA sequencing;
   RNA-binding proteins; tropomyosin
ID FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; ALPHA-TROPOMYOSIN; ACTIN
   CYTOSKELETON; EXON SELECTION; MESSENGER-RNA; MUSCLE; RBFOX2; EXPRESSION;
   MUTATIONS; DISEASE
AB Alternative splicing (AS) contributes to the diversity of the proteome by producing multiple isoforms from a single gene. Although short-read RNA-sequencing methods have been the gold standard for determining AS patterns of genes, they have a difficulty in defining full-length mRNA isoforms assembled using different exon combinations. Tropomyosin 1 (TPM1) is an actin-binding protein required for cytoskeletal functions in non-muscle cells and for contraction in muscle cells. Tpm1 undergoes AS regulation to generate muscle versus non-muscle TPM1 protein isoforms with distinct physiological functions. It is unclear which full-length Tpm1 isoforms are produced via AS and how they are regulated during heart development. To address these, we utilized nanopore long-read cDNA sequencing without gene-specific PCR amplification. In rat hearts, we identified full-length Tpm1 isoforms composed of distinct exons with specific exon linkages. We showed that Tpm1 undergoes AS transitions during embryonic heart development such that muscle-specific exons are connected generating predominantly muscle-specific Tpm1 isoforms in adult hearts. We found that the RNA-binding protein RBFOX2 controls AS of rat Tpm1 exon 6a, which is important for cooperative actin binding. Furthermore, RBFOX2 regulates Tpm1 AS of exon 6a antagonistically to the RNA-binding protein PTBP1. In sum, we defined full-length Tpm1 isoforms with different exon combinations that are tightly regulated during cardiac development and provided insights into the regulation of Tpm1 AS by RNA-binding proteins. Our results demonstrate that nanopore sequencing is an excellent tool to determine full-length AS variants of muscle-enriched genes.
C1 [Cao, Jun; Routh, Andrew L.; Kuyumcu-Martinez, Muge N.] Univ Texas Med Branch, Dept Biochem & Mol Biol, Galveston, TX 77555 USA.
   [Routh, Andrew L.] Univ Texas Med Branch, Sealy Ctr Struct Biol & Mol Biophys, Galveston, TX 77555 USA.
   [Kuyumcu-Martinez, Muge N.] Univ Texas Med Branch, Inst Translat Sci, Galveston, TX 77555 USA.
   [Kuyumcu-Martinez, Muge N.] Univ Texas Med Branch, Dept Neurosci Cell Biol & Anat, Galveston, TX 77555 USA.
C3 University of Texas System; University of Texas Medical Branch
   Galveston; University of Texas System; University of Texas Medical
   Branch Galveston; University of Texas System; University of Texas
   Medical Branch Galveston; University of Texas System; University of
   Texas Medical Branch Galveston
RP Kuyumcu-Martinez, MN (corresponding author), Univ Texas Med Branch, Dept Biochem & Mol Biol, Galveston, TX 77555 USA.
EM nmmartin@utmb.edu
RI Cao, Jun/AAK-7312-2021; Routh, Andrew/J-7486-2019
OI Kuyumcu-Martinez, Muge N./0000-0003-3171-5861; Cao,
   Jun/0000-0003-0211-9227
FU UTMB Department of Biochemistry and Molecular Biology Bridging funds;
   National Institutes of Health/National Heart Lung Blood Institute
   [1R01HL135031]; CPRIT [RP190556]; American Heart Association
   [18POST3399018, 20TPA35490206]; UTMB; American Heart Association (AHA)
   [20TPA35490206] Funding Source: American Heart Association (AHA)
FX This work was supported, in part, UTMB Department of Biochemistry and
   Molecular Biology Bridging funds, a grant from the National Institutes
   of Health/National Heart Lung Blood Institute [1R01HL135031], a grant
   from CPRIT [RP190556] and a grant from American Heart Association
   [20TPA35490206] to M. N.K-M. J.C. is funded by a post-doctoral
   fellowship from American Heart Association [18POST3399018]. A.R. is
   supported by start-up funds from UTMB. We thank Dr. Garcia-Blanco for
   providing us PTBP1 antibody.
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NR 68
TC 19
Z9 20
U1 0
U2 6
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1582-1838
EI 1582-4934
J9 J CELL MOL MED
JI J. Cell. Mol. Med.
PD SEP
PY 2021
VL 25
IS 17
BP 8352
EP 8362
DI 10.1111/jcmm.16795
EA JUL 2021
PG 11
WC Cell Biology; Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Research & Experimental Medicine
GA UL3ES
UT WOS:000677198400001
PM 34302435
OA gold, Green Submitted, Green Published
DA 2025-04-10
ER

PT J
AU Park, YH
   Broyles, HV
   He, SQ
   McGrady, NR
   Li, LY
   Yorio, T
AF Park, Yong H.
   Broyles, Heather V.
   He, Shaoqing
   McGrady, Nolan R.
   Li, Linya
   Yorio, Thomas
TI Involvement of AMPA Receptor and Its Flip and Flop Isoforms in Retinal
   Ganglion Cell Death Following Oxygen/Glucose Deprivation
SO INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
LA English
DT Article
DE AMPA; flip/flop isoforms; cell death; RGCs; ADAR proteins
ID GLUTAMATE-OPERATED CHANNELS; ISCHEMIA-INDUCED CHANGES; MESSENGER-RNA;
   NEURONAL DEATH; OPTIC-NERVE; RAT RETINA; MEDIATED EXCITOTOXICITY;
   KINETIC-PROPERTIES; SUBUNIT PROTEINS; SPLICE VARIANTS
AB PURPOSE. The alpha-amino-3-hydroxy-5-methyl-4-isoxazoleproprionic acid ( AMPA) receptors (AMPAR) subunits can be posttranscriptionally modified by alternative splicing forming flip and flop isoforms. We determined if an ischemia-like insult to retinal ganglion cells (RGCs) increases AMPAR susceptibility to s-AMPA-mediated excitotoxicity through changes in posttranscriptional modified isoforms.
   METHODS. Purified neonatal rat RGCs were subjected to either glucose deprivation (GD) or oxygen/glucose deprivation (OGD) conditions followed by treatment with either 100 mu M s-AMPA or Kainic acid. A live-dead assay and caspase 3 assay was used to assess cell viability and apoptotic changes, respectively. We used JC-1 dye and dihydroethidium to measure mitochondria depolarization and reactive oxygen species (ROS), respectively. Calcium imaging with fura-2AM was used to determine intracellular calcium, while the fluorescently-labeled probe, Nanoprobe1, was used to detect calcium-permeable AMPARs. Quantitative PCR (qPCR) analysis was done to determine RNA editing sites AMPAR isoforms.
   RESULTS. Glucose deprivation, as well as an OGD insult followed by AMPAR stimulation, produced a significant increase in RGC death. Retinal ganglion cell death was independent of caspase 3/7 activity, but was accompanied by increased mitochondrial depolarization and increased ROS production. This was associated with an elevated intracellular Ca2+ and calcium permeable-AMPARs. The mRNA expression of GLUA2 and GLUA3 flop isoform decreased significantly, while no appreciable changes were found in the corresponding flip isoforms. There were no changes in the Q/R editing of GLUA2, while R/G editing of GLUA2 flop declined under these conditions.
   CONCLUSIONS. Following oxidative injury, RGCs become more susceptible to AMPAR-mediated excitotoxicity. RNA editing and changes in alternative spliced flip and flop isoforms of AMPAR subunits may contribute to increased RGC death.
C1 [Park, Yong H.; Broyles, Heather V.; He, Shaoqing; McGrady, Nolan R.; Li, Linya; Yorio, Thomas] Univ N Texas, Hlth Sci Ctr, Ft Worth, TX USA.
   [Park, Yong H.; Broyles, Heather V.; He, Shaoqing; McGrady, Nolan R.; Li, Linya; Yorio, Thomas] Univ N Texas, Hlth Sci Ctr, North Texas Eye Res Inst, Ft Worth, TX USA.
   [Broyles, Heather V.] Univ N Texas, Texas Coll Osteopath Med, Hlth Sci Ctr, Ft Worth, TX 76107 USA.
C3 University of North Texas System; University of North Texas Health
   Science Center; University of North Texas System; University of North
   Texas Health Science Center; University of North Texas System;
   University of North Texas Health Science Center
RP Yorio, T (corresponding author), UNT Hlth Sci Ctr, Off Provost, 3500 Camp Bowie Blvd, Ft Worth, TX 76107 USA.
EM Thomas.Yorio@UNTHSC.edu
OI McGrady, Nolan/0000-0002-3619-0251; Park, Yong/0000-0001-7343-5652
FU Department of Defense, U.S. Army Medical Research and Material Command,
   Ft. Detrick, Maryland, United States [W81XWH-10-2-0003]
FX Supported by Grant W81XWH-10-2-0003 from the Department of Defense, U.S.
   Army Medical Research and Material Command, Ft. Detrick, Maryland,
   United States.
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NR 117
TC 14
Z9 18
U1 0
U2 10
PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PI ROCKVILLE
PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA
SN 0146-0404
EI 1552-5783
J9 INVEST OPHTH VIS SCI
JI Invest. Ophthalmol. Vis. Sci.
PD FEB
PY 2016
VL 57
IS 2
BP 508
EP 526
DI 10.1167/iovs.15-18481
PG 19
WC Ophthalmology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Ophthalmology
GA DI6EF
UT WOS:000373591300026
PM 26868754
OA gold
DA 2025-04-10
ER

PT J
AU Yonemura, I
   Mitani, Y
   Nakada, K
   Akutsu, S
   Miyazaki, JI
AF Yonemura, I
   Mitani, Y
   Nakada, K
   Akutsu, S
   Miyazaki, JI
TI Developmental changes of cardiac and slow skeletal muscle troponin T
   expression in chicken cardiac and skeletal muscles
SO ZOOLOGICAL SCIENCE
LA English
DT Article
DE muscle development; fiber type; isoform; alternative splicing; troponin
   T
ID MYOFIBRILLAR PROTEINS; DEVELOPING RAT; BREAST MUSCLE; MESSENGER-RNA;
   ISOFORMS; GENE; VARIANTS; HEART; SEQUENCE; IDENTIFICATION
AB Numerous troponin T (TnT) isoforms are produced by alternative splicing from three genes characteristic of cardiac, fast skeletal, and slow skeletal muscles. Apart from the developmental transition of fast skeletal muscle TnT isoforms, switching of TnT expression during muscle development is poorly understood. In this study, we investigated precisely and comprehensively developmental changes in chicken cardiac and slow skeletal muscle TnT isoforms by two-dimensional gel electrophoresis and immunoblotting with specific antisera. Four major isoforms composed of two each of higher and lower molecular weights were found in cardiac TnT (cTnT). Expression of cTnT changed from high- to low-molecular-weight isoforms during cardiac muscle development. On the other hand, such a transition was not found and only high-molecular-weight isoforms were expressed in the early stages of chicken skeletal muscle development. Two major and three minor isoforms of slow skeletal muscle TnT (sTnT), three of which were newly found in this study, were expressed in chicken skeletal muscles. The major sTnT isoforms were commonly detected throughout development in slow and mixed skeletal muscles, and at developmental stages until hatching-out in fast skeletal muscles. The expression of minor sTnT isoforms varied from muscle to muscle and during development.
C1 Univ Tsukuba, Inst Biol Sci, Tsukuba, Ibaraki 3058572, Japan.
C3 University of Tsukuba
RP Miyazaki, JI (corresponding author), Univ Tsukuba, Inst Biol Sci, Tsukuba, Ibaraki 3058572, Japan.
RI Miyazaki, Jun-ichi/N-1976-2015
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NR 39
TC 9
Z9 12
U1 0
U2 5
PU ZOOLOGICAL SOC JAPAN
PI TOKYO
PA TOSHIN-BUILDING, HONGO 2-27-2, BUNKYO-KU, TOKYO, 113, JAPAN
SN 0289-0003
J9 ZOOL SCI
JI Zool. Sci.
PD FEB
PY 2002
VL 19
IS 2
BP 215
EP 223
DI 10.2108/zsj.19.215
PG 9
WC Zoology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Zoology
GA 553ZC
UT WOS:000175707400010
PM 12012785
OA Bronze
DA 2025-04-10
ER

PT J
AU Dery, KJ
   Kojima, H
   Kageyama, S
   Kadono, K
   Hirao, H
   Cheng, B
   Zhai, Y
   Farmer, DG
   Kaldas, FM
   Yuan, XY
   Eltzschig, HK
   Kupiec-Weglinski, JW
AF Dery, Kenneth J.
   Kojima, Hidenobu
   Kageyama, Shoichi
   Kadono, Kentaro
   Hirao, Hirofumi
   Cheng, Brian
   Zhai, Yuan
   Farmer, Douglas G.
   Kaldas, Fady M.
   Yuan, Xiaoyi
   Eltzschig, Holger K.
   Kupiec-Weglinski, Jerzy W.
TI Alternative splicing of CEACAM1 by hypoxia-inducible factor-1a enhances
   tolerance to hepatic ischemia in mice and humans
SO SCIENCE TRANSLATIONAL MEDICINE
LA English
DT Article
ID SHORT CYTOPLASMIC DOMAIN; CELL ADHESION MOLECULE; LIVER ISCHEMIA;
   INFLAMMATORY RESPONSES; REPERFUSION INJURY; CARDIAC ALLOGRAFTS;
   ANGIOGENIC FACTOR; EXPRESSION; MODEL; KINASE
AB Although alternative splicing (AS) drives transcriptional responses and cellular adaptation to environmental stresses, its contributions in organ transplantation have not been appreciated. We have shown that carcinoembryonic antigen-related cell adhesion molecule (Ceacam1; CD66a), a transmembrane biliary glycoprotein expressed in epithelial, endothelial, and immune cells, determines donor liver transplant quality. Here, we studied how AS of Ceacam1 affects ischemia-reperfusion injury (IRI) in mouse and human livers. We found that the short cytoplasmic isoform Ceacam1-S increased during early acute and late resolution phases of warm IRI injury in mice. Transfection of Ceacam1-deficient mouse hepatocytes with adenoviral Ceacam1-S mitigated hypoxia-induced loss of cellular adhesion by repressing the Ask1/p-p38 cell death pathway. Nucleic acid-blocking morpholinos, designed to selectively induce Ceacam1-S, protected hepatocyte cultures against temperature-induced stress in vitro. Luciferase and chromatin immunoprecipitation assays identified direct binding of hypoxia-inducible factor-1a (Hif-1a) to the mouse polypyrimidine tract binding protein 1 (Ptbp1) promoter region. Dimethyloxalylglycine protected mouse livers from warm IR stress and hepatocellular damage by inhibiting prolyl hydroxylase domain-containing protein 1 and promoting AS of Ceacam1-S. Last, analysis of 46 human donor liver grafts revealed that CEACAM1-S positively correlated with pretransplant HIF1A expression. This also correlated with better transplant outcomes, including reduced TIMP1, total bilirubin, proinflammatory MCP1, CXCL10 cytokines, immune activation markers IL17A, and incidence of delayed complications from biliary anastomosis. This translational study identified mouse Hif-1a-controlled AS of Ceacam1, through transcriptional regulation of Ptbp1 promoter region, as a functional underpinning of hepatoprotection against IR stress and tissue damage in liver transplantation.
C1 [Dery, Kenneth J.; Kojima, Hidenobu; Kageyama, Shoichi; Kadono, Kentaro; Hirao, Hirofumi; Cheng, Brian; Zhai, Yuan; Farmer, Douglas G.; Kaldas, Fady M.; Kupiec-Weglinski, Jerzy W.] UCLA, Dumont UCLA Transplantat Ctr, David Geffen Sch Med, Dept Surg,Div Liver & Pancreas Transplantat, Los Angeles, CA 90095 USA.
   [Yuan, Xiaoyi; Eltzschig, Holger K.] UTHlth, McGovern Med Sch, Dept Anesthesiol, Houston, TX 77030 USA.
   [Kageyama, Shoichi] Kyoto Univ, Dept Surg, Div Hepatobiliary Pancreat Surg & Transplantat, Grad Sch Med, Kyoto 6068501, Japan.
   [Zhai, Yuan] Med Univ South Carolina, Lee Patterson Allen Transplant Immunobiol Lab, Charleston, SC 29415 USA.
C3 University of California System; University of California Los Angeles;
   University of California Los Angeles Medical Center; David Geffen School
   of Medicine at UCLA; University of Texas System; University of Texas
   Health Science Center Houston; Kyoto University; Medical University of
   South Carolina
RP Kupiec-Weglinski, JW (corresponding author), UCLA, Dumont UCLA Transplantat Ctr, David Geffen Sch Med, Dept Surg,Div Liver & Pancreas Transplantat, Los Angeles, CA 90095 USA.
EM jkupiec@mednet.ucla.edu
OI Yuan, Xiaoyi/0000-0002-2898-6495; Dery, Kenneth/0000-0003-4238-4092;
   Hirao, Hirofumi/0000-0001-6975-2436; Farmer, Douglas
   G/0000-0001-9080-0527
FU NIH [P01 AI120944, R01 DK062357, DK107533, DK102110, R01HL154720,
   R01DK122796, R01HL133900, R01HL155950]; Department of Defense
   [W81XWH2110032]; Parker B. Francis Fellowship; American Lung Association
   Catalyst [CA-622265]; National Institute of Allergy and Infectious
   Diseases [P01AI120944] Funding Source: NIH RePORTER; National Institute
   of Diabetes and Digestive and Kidney Diseases [R01DK062357] Funding
   Source: NIH RePORTER
FX This work was supported by NIH grants P01 AI120944 (J.W.K.-W.), R01
   DK062357 (J.W.K.-W.), DK107533 (J.W.K.-W.), and DK102110 (J.W.K.-W.);
   NIH grants R01HL154720 (H.K.E.), R01DK122796 (H.K.E.), and R01HL133900
   (H.K.E.), and Department of Defense grant W81XWH2110032 (H.K.E.); and
   NIH grant R01HL155950 (X.Y.), Parker B. Francis Fellowship (X.Y.), and
   American Lung Association Catalyst Award CA-622265 (X.Y.).& nbsp;
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NR 70
TC 14
Z9 16
U1 7
U2 13
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 1946-6234
EI 1946-6242
J9 SCI TRANSL MED
JI Sci. Transl. Med.
PD AUG 2
PY 2023
VL 15
IS 707
AR eadf2059
DI 10.1126/scitranslmed.adf2059
PG 14
WC Cell Biology; Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Research & Experimental Medicine
GA O1OR4
UT WOS:001041587800004
PM 37531413
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Canaider, S
   Facchin, F
   Griffoni, C
   Casadei, R
   Vitale, L
   Lenzi, L
   Frabetti, F
   D'Addabbo, P
   Carinci, P
   Zannotti, M
   Strippoli, P
AF Canaider, Silvia
   Facchin, Federica
   Griffoni, Cristiana
   Casadei, Raffaella
   Vitale, Lorenza
   Lenzi, Luca
   Frabetti, Flavia
   D'Addabbo, Pietro
   Carinci, Paolo
   Zannotti, Maria
   Strippoli, Pierluigi
TI Proteins encoded by human Down syndrome critical region gene 1-like 2
   (DSCR1L2) mRNA and by a novel DSCR1L2 mRNA isoform
   interact with cardiac troponin I (TNNI3)
SO GENE
LA English
DT Article
DE two-hybrid system techniques; human heart; alternative splicing
ID SYNDROME CRITICAL REGION; MOLECULAR-CLONING; HUMAN SKELETAL; GENE
   FAMILY; INHIBITOR; CARDIOMYOPATHY; IDENTIFICATION; ANGIOGENESIS;
   EXPRESSION; MUTATIONS
AB Down syndrome critical region gene I-like 2 (DSCR1L2) belongs to the human DSCR1-like gene family, which also includes DSCR1 and DSCR1L1. Both DSCR1 and DSCR1L1 proteins interact with calcineurin, a calcium/calmodulin-dependent phosphatase. To date, no interactor has been described for DSCR1L2. The aim of this work was to perform a first functional study of DSCR1L2 using yeast two-hybrid analysis conducted on a human heart cDNA library. Here, we report the interaction between DSCR1L2 and the human cardiac troponin 1 (TNN13), the heart-specific inhibitory subunit of the troporyin complex, a central component of the contractile apparatus. This interaction was confirmed by both yeast cotransformation and GST (glutathione-sepharose transferase) fusion protein assay. Moreover, a new DSCR1L2 mRNA isoform, generated by alternative splicing, was identified and cloned in different tissues: it lacks two central exons, encoding the most conserved domains among the DSCR1 -like protein family. A quantitative relative reverse transcription-polymerase chain reaction (RT-PCR) assay showed that in heart tissue the normalized expression level ratio for DSCR1L2 and DSCR1L2-E2E5 mRNA isoforms is 3.5: 1, respectively. The yeast cotransformation and GST fusion protein assay demonstrated the interaction between this new DSCR1 L2 variant and the human cardiac troponin I and the prominent role of DSCR1L2 exon 2 in determining binding between both DSCR1 L2 isoforms and TNN13. These data indicate an entirely new role for a DSCR1-like family gene, suggesting a possible involvement of DSCR1L2 in cardiac contraction. (c) 2006 Elsevier B.V. All rights reserved.
C1 Univ Bologna, Dept Histol Embryol & Appl Biol, I-40126 Bologna, Italy.
   Univ Bologna, Dept Expt Biol, I-40126 Bologna, Italy.
C3 University of Bologna; University of Bologna
RP Strippoli, P (corresponding author), Univ Bologna, Dept Histol Embryol & Appl Biol, Via Belmeloro 8, I-40126 Bologna, Italy.
EM pierluigi.strippoli@unibo.it
RI Griffoni, Cristiana/D-3031-2019; Casadei, Raffaella/K-1730-2015;
   D'Addabbo, Pietro/D-8551-2016
OI D'Addabbo, Pietro/0000-0003-3325-4931; Griffoni,
   Cristiana/0000-0001-8344-7534; STRIPPOLI, PIERLUIGI/0000-0001-8769-8832
CR Ausubel F.A., 1999, CURRENT PROTOCOLS MO
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NR 28
TC 16
Z9 20
U1 0
U2 6
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD MAY 10
PY 2006
VL 372
BP 128
EP 136
DI 10.1016/j.gene.2005.12.029
PG 9
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 043DL
UT WOS:000237579600015
PM 16516408
OA Green Published
DA 2025-04-10
ER

PT J
AU Zhang, JW
   Zheng, M
   Eipper, BA
   Pintar, JE
AF Zhang, JW
   Zheng, M
   Eipper, BA
   Pintar, JE
TI Embryonic and uterine expression patterns of peptidylglycine α-amidating
   monooxygenase transcripts suggest a widespread role for amidated
   peptides in development
SO DEVELOPMENTAL BIOLOGY
LA English
DT Article
ID GLYCINE-EXTENDED PROGASTRIN; PROCESSING ENZYMES; CARBOXYPEPTIDASE-E;
   TOOTH DEVELOPMENT; ROUTING DOMAINS; GROWTH-FACTOR; RAT-BRAIN; GENE;
   BIOSYNTHESIS; PITUITARY
AB Posttranslational processing of peptide precursors frequently includes COOH-terminal amidation by the bifunctional enzyme peptidylglycine alpha-amidating monooxygenase (PAM). We examined the ontogeny of PAM gene expression using in situ hybridization and detected expression in the cardiogenic region beginning at embryonic day 9 (e9) and in decidualizing uterine endometrium and myometrial smooth muscle at even earlier postimplantation stages. PAM expression in the CNS at e10 was highest in the dorsal spinal cord and floor plate and exhibited complex patterning in several CNS regions, including the ventricular zone, over the next several days with PAM expression first detected in neurons at e13. High levels of PAM expression characterized several nonneural cell populations as well, including limb mesoderm and the mesenchyme immediately adjacent to nasal, maxillary, palatal, and dental epithelia during tissue fusion and remodeling. Since alternative splicing generates PAM transcripts encoding proproteins that are differentially localized and processed, we used probes that distinguish major subsets of PAM transcripts to determine that transcripts encoding integral membrane PAM isoforms predominate in most, if not all, PAM-expressing cell types throughout development. Further, transcripts that encode soluble and cleavable PAM isoforms are essentially absent from two CNS areas that are rich in transcripts encoding integral membrane, bifunctional PAM: the ependymal region of the spinal cord and the ventricular zone of the hippocampus. These results provide evidence for widespread expression and cell-type-specific alternative splicing of PAM during development and raise the possibility that region-specific amidation of PAM substrates contributes significantly to several developmental processes. (C) 1997 Academic Press.
C1 Univ Med & Dent New Jersey, Dept Neurosci & Cell Biol, Robert Wood Johnson Med Sch, Piscataway, NJ 08854 USA.
   Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA.
   Johns Hopkins Univ, Sch Med, Dept Physiol, Baltimore, MD 21205 USA.
C3 Rutgers University System; Rutgers University New Brunswick; Rutgers
   University Biomedical & Health Sciences; Johns Hopkins University; Johns
   Hopkins University
RP Pintar, JE (corresponding author), Univ Med & Dent New Jersey, Dept Neurosci & Cell Biol, Robert Wood Johnson Med Sch, 675 Hoes Lane,CABM 326, Piscataway, NJ 08854 USA.
FU NIDA NIH HHS [DA-08622, DA-00266] Funding Source: Medline
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NR 58
TC 19
Z9 21
U1 0
U2 2
PU ACADEMIC PRESS INC
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0012-1606
J9 DEV BIOL
JI Dev. Biol.
PD DEC 15
PY 1997
VL 192
IS 2
BP 375
EP 391
DI 10.1006/dbio.1997.8750
PG 17
WC Developmental Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Developmental Biology
GA YR140
UT WOS:000071464100014
PM 9441675
OA hybrid
DA 2025-04-10
ER

PT J
AU Marshall, CR
   Pan, TC
   Le, HD
   Omelchenko, A
   Hwang, PP
   Hryshko, LV
   Tibbits, GF
AF Marshall, CR
   Pan, TC
   Le, HD
   Omelchenko, A
   Hwang, PP
   Hryshko, LV
   Tibbits, GF
TI cDNA cloning and expression of the cardiac
   Na<SUP>+</SUP>/Ca<SUP>2+</SUP> exchanger from Mozambique tilapia
   (Oreochromis mossambicus) reveal a teleost membrane transporter
   with mammalian temperature dependence
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID SODIUM-CALCIUM EXCHANGE; SARCOLEMMAL NA+-CA2+ EXCHANGER; COLD
   ADAPTATION; HEART-FAILURE; CONFORMATIONAL FLEXIBILITY; TRANSMEMBRANE
   SEGMENTS; FUNCTIONAL EXPRESSION; VENTRICULAR MYOCYTES; MUTATIONAL
   ANALYSIS; THERMAL ADAPTATION
AB The complete cDNA sequence of the tilapia cardiac Na+/Ca2+ exchanger (NCX-TL1.0) was determined. The 3.1-kb transcript encodes a protein 957 amino acids in length, with a predicted signal peptide cleaved at residue 31 and two potential N-glycosylation sites in the extracellular N terminus. Hydropathy analysis and sequence comparison predicted a mature protein with nine transmembrane-spanning segments, consistent with the structural topologies of other known mammalian and teleost NCX isoforms. Overall sequence comparison shows high identity to both trout NCX-TR1.0 (similar to 1%) and mammalian NCX1.1 (similar to 73%), and phylogenetic analyses confirmed its identity as a member of the NCX1 gene family, expressing exons A, C, D, and F in the alternative splice site. Sequence identity is even higher in the alpha-repeats, the exchanger inhibitory peptide (XIP) site, and Ca2+-binding domains, which is reflected in the functional and regulatory properties of tilapia NCX-TL1.0. When NCX-TL1.0 was expressed in Xenopus oocytes and the currents were measured in giant excised patches, they displayed both positive regulation by Ca2+ and Na+-dependent inactivation in a manner similar to trout NCX-TR1.0. However, tilapia NCX-TL1.0 exhibited a relatively high sensitivity to temperature compared with trout NCX-TR1.0. Whereas trout NCX-TR1.0 currents displayed activation energies of similar to 7 kJ/mol, tilapia NCX-TL1.0 currents showed mammal-like temperature dependence, with peak and steady-state current activation energies of 53 +/- 9 and 67 +/- 21 kJ/ mol, respectively. Using comparative sequence analysis, we highlighted 10 residue positions in the N-terminal domain of the NCX that, in combination, may confer exchanger temperature dependence through subtle changes in protein flexibility. Tilapia NCX-TL1.0 represents the first non-mammalian NCX to exhibit a mammalian temperature dependence phenotype and will prove to be a useful model in defining the interplay between molecular flexibility and stability in NCX function.
C1 Simon Fraser Univ, Cardiac Membrane Res Lab, Burnaby, BC V5A 1S6, Canada.
   Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada.
   British Columbia Res Inst Childrens & Womens Hlth, Vancouver, BC V5Z 4H4, Canada.
   Acad Sinica, Inst Cellular & Organism Biol, Taipei 115, Taiwan.
   Univ Manitoba, St Boniface Gen Hosp, Res Ctr, Inst Cardiovasc Sci, Winnipeg, MB R2H 2A6, Canada.
C3 Simon Fraser University; Simon Fraser University; Academia Sinica -
   Taiwan; University of Manitoba; Children's Hospital Research Institute
   of Manitoba
RP Simon Fraser Univ, Cardiac Membrane Res Lab, 8888 Univ Dr, Burnaby, BC V5A 1S6, Canada.
EM tibbits@sfu.ca
RI hwang, pp/A-3641-2011; Pan, Francis/E-5243-2019
OI Tibbits, Glen/0000-0002-2586-3115; Pan, Francis/0000-0002-1550-4581;
   Hryshko, Larry/0000-0003-1079-8549
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NR 75
TC 11
Z9 13
U1 0
U2 6
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD AUG 12
PY 2005
VL 280
IS 32
BP 28903
EP 28911
DI 10.1074/jbc.M504807200
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 952QT
UT WOS:000231021300010
PM 15937330
OA hybrid
DA 2025-04-10
ER

PT J
AU Kravchenko, IV
   Furalyov, VA
   Popov, VO
AF Kravchenko, Irina V.
   Furalyov, Vladimir A.
   Popov, Vladimir O.
TI Stimulation of mechano-growth factor expression by myofibrillar proteins
   in murine myoblasts and myotubes
SO MOLECULAR AND CELLULAR BIOCHEMISTRY
LA English
DT Article
DE Mechano-growth factor; Myomesin; Myosin-binding protein C; Titin; cAMP
ID I SPLICE VARIANTS; IGF-I; SKELETAL-MUSCLE; INSULIN; PEPTIDE; CELL;
   VITRO; MGF
AB Mechano-growth factor (MGF) is a product of alternative splicing of the insulin-like growth factor 1 (IGF-1) mRNA. MGF is known to stimulate myoblast proliferation and to protect neurons and cardiomyocytes from apoptosis. MGF expression is dramatically increased in response to mechanical stimuli and tissue damage. The mechanisms of induction of MGF expression are as yet imperfectly understood. There is certain evidence that some protein factors able to stimulate MGF synthesis in normal myoblasts are released from damaged muscle. This study was undertaken to explore the nature of these protein inductors of MGF expression and to investigate the mechanism of their action. We report here that myofibrillar fraction of skeletal muscle homogenate activated MGF expression in murine myoblasts and myotubes in culture. The expression of another splice form of IGF-1 gene, IGF-1Ea, was also stimulated by myofibrils. Three myofibrillar proteins able to stimulate MGF synthesis were isolated. These proteins were identified by MALDI and immunoblotting as myomesin, myosin-binding protein C, and titin. The activation of MGF expression was associated with the increase of cAMP level in the cells. Inhibitor of adenylyl cyclase dideoxyadenosine arrested stimulation of MGF synthesis by all three myofibrillar proteins.
C1 [Kravchenko, Irina V.; Furalyov, Vladimir A.; Popov, Vladimir O.] Russian Acad Sci, AN Bach Inst Biochem, Moscow 119071, Russia.
C3 Russian Academy of Sciences; Research Center of Biotechnology RAS
RP Kravchenko, IV (corresponding author), Russian Acad Sci, AN Bach Inst Biochem, Leninskiy Prospect 33, Moscow 119071, Russia.
EM ivkravchenko@yandex.ru
RI Kravchenko, Irina/K-5414-2015
OI Kravchenko, Irina/0000-0002-1715-1281; Popov,
   Vladimir/0000-0002-0133-7962
FU Russian Foundation for Basic Research [09-04-01598-a]; Federal Target
   Program "Scientific and scientific-pedagogical personnel of innovative
   Russia [16.740.11.0008]
FX The authors are grateful to Dr. Matthias Wilmanns from DESY Hamburg EMBL
   outstation for inspiring discussion. These studies were supported by the
   grant from the Russian Foundation for Basic Research (09-04-01598-a) and
   Federal Target Program "Scientific and scientific-pedagogical personnel
   of innovative Russia in 2009-2013" (16.740.11.0008).
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NR 35
TC 10
Z9 12
U1 0
U2 13
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0300-8177
EI 1573-4919
J9 MOL CELL BIOCHEM
JI Mol. Cell. Biochem.
PD APR
PY 2012
VL 363
IS 1-2
BP 347
EP 355
DI 10.1007/s11010-011-1187-5
PG 9
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 900LP
UT WOS:000300888900035
PM 22160926
DA 2025-04-10
ER

PT J
AU Zuk, A
   Bonventre, JV
   Matlin, KS
AF Zuk, A
   Bonventre, JV
   Matlin, KS
TI Expression of fibronectin splice variants in the postischemic rat kidney
SO AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
LA English
DT Article
DE alternative splicing; extracellular matrix; renal injury; regeneration;
   acute renal failure
ID GROWTH-FACTOR-BETA; ACUTE-RENAL-FAILURE; MESSENGER-RNA PRECURSOR;
   EMBRYONIC FIBRONECTINS; EXTRACELLULAR-MATRIX; PROXIMAL TUBULE;
   TRANSFORMING GROWTH-FACTOR-BETA-1; DIFFERENTIAL EXPRESSION; CULTURED
   FIBROBLASTS; ISOFORM DISTRIBUTION
AB Using an in vivo rat model of unilateral renal ischemia, we previously showed that the expression and distribution of fibronectin (FN), a major glycoprotein of plasma and the extracellular matrix, dramatically changes in response to ischemia-reperfusion. In the distal nephron in particular, FN accumulates in tubular lumens, where it may contribute to obstruction. In the present study, we examine whether the tubular FN is the plasma or cellular form, each of which is produced by alternative splicing of a single gene transcript. We demonstrate that FN in tubular lumens does not contain the extra type III A (EIIIA) and/or the extra type III B (EIIIB) region, both of which are unique to cellular FN. It does, however, contain the V95 region, which in the rat is a component of FNs in both plasma and the extracellular matrix. Expression of FN containing EIIIA increases dramatically in the renal interstitium after ischemic injury and continues to be produced at high levels 6 wk later. V95-containing FN also increases in the interstitial space, albeit more slowly and at lower levels than FN containing EIIIA; it also persists 6 wk later. FN containing the EIIIB region is not expressed in the injured kidney. The presence of V95 but not the EIIIA or EIIIB regions of FN in tubular lumens identifies the origin of FN in this location as the plasma; tubular FN is ultimately voided in the urine. The data indicate that both plasma and cellular FNs containing the V95 and/or EIIIA regions may contribute to the pathogenesis of acute renal failure and to the repair of the injured kidney.
C1 Beth Israel Deaconess Med Ctr, Dept Surg, Boston, MA 02215 USA.
   Harvard Univ, Sch Med, Dept Surg, Boston, MA 02115 USA.
   Harvard Univ, Sch Med, Dept Med, Boston, MA 02115 USA.
   Massachusetts Gen Hosp, Med Serv, Charlestown, MA 02129 USA.
   Harvard Univ, Sch Med, MIT, Div Hlth Sci & Technol, Cambridge, MA 02139 USA.
C3 Harvard University; Harvard University Medical Affiliates; Beth Israel
   Deaconess Medical Center; Harvard University; Harvard Medical School;
   Harvard University; Harvard Medical School; Harvard University; Harvard
   University Medical Affiliates; Massachusetts General Hospital; Harvard
   University; Massachusetts Institute of Technology (MIT)
RP Beth Israel Deaconess Med Ctr, Dept Surg, Bldg DA-880,330 Brookline Ave, Boston, MA 02215 USA.
EM azuk@caregroup.harvard.edu
FU NIDDK NIH HHS [R01-DK-46768, R01 DK072381, DK-34854, R37-DK-39773]
   Funding Source: Medline
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NR 76
TC 37
Z9 40
U1 0
U2 1
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 1931-857X
EI 1522-1466
J9 AM J PHYSIOL-RENAL
JI Am. J. Physiol.-Renal Physiol.
PD JUN
PY 2001
VL 280
IS 6
BP F1037
EP F1053
DI 10.1152/ajprenal.2001.280.6.F1037
PG 17
WC Physiology; Urology & Nephrology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology; Urology & Nephrology
GA 432DL
UT WOS:000168676900012
PM 11352844
DA 2025-04-10
ER

PT J
AU Wang, KK
   Wen, R
   Meng, Q
AF Wang, Kangkang
   Wen, Rui
   Meng, Qing
TI Properties of two spliceoforms of major ampullate spidroin 1 reveal
   unique functions of N-linker region
SO INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
LA English
DT Article
DE Alternative splicing; MaSp1; Spider silk
ID SILK PROTEIN; MECHANICAL-PROPERTIES; STRUCTURAL BASIS; DRAGLINE SILK;
   SPIDER; SEQUENCE; FIBROIN; OPPORTUNITIES; TRANSCRIPTION; DIVERSITY
AB Spiders produce diverse silk fibers with distinct properties for daily survival. Among these silk fibers, dragline silk spun by major ampullate gland is used for bridgelines and web radii, exhibiting both outstanding tensile strength and extensibility. Although more and more full-length major ampullate spidroin gene sequences have been reported, the research regarding alternative splicing events of spidroins are rare. Here we describe two spliceoforms of major ampullate spidroin 1 (MaSp1) from Araneus ventricosus, and both of them are lack of central repetitive region. The minor isoform only has terminal regions. For the major isoform, however, the N-linker and terminal regions are all retained. Furthermore, we investigated the functions of N-linker structure of A. ventricosus MaSp1, based on the properties of the two spliceoforms. The dimer level of major isoform (MaSp1-2) is higher than that of the minor isoform (MaSp1-1). Moreover, the MaSp1-2 protein display higher melting temperature (T-m) than MaSp1-1, and the MaSp1-2 fibers exhibit higher tensile strength than MaSp1-1 fibers. These studies demonstrate that the N-linker region promotes the formation of intermolecular disulphide bond, suggesting a strategy to enhance the thermostabilization and mechanical properties of spidroins. (C) 2020 Elsevier B.V. All rights reserved.
C1 [Wang, Kangkang; Wen, Rui; Meng, Qing] Donghua Univ, Inst Biol Sci & Biotechnol, Shanghai, Peoples R China.
C3 Donghua University
RP Meng, Q (corresponding author), Donghua Univ, Inst Biol Sci & Biotechnol, Shanghai, Peoples R China.
EM mengqing@dhu.edu.cn
FU National Natural Science Foundation of China [31570721]
FX This work was supported by the National Natural Science Foundation of
   China [31570721].
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NR 51
TC 4
Z9 5
U1 0
U2 25
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 0141-8130
EI 1879-0003
J9 INT J BIOL MACROMOL
JI Int. J. Biol. Macromol.
PD AUG 15
PY 2020
VL 157
BP 67
EP 74
DI 10.1016/j.ijbiomac.2020.04.143
PG 8
WC Biochemistry & Molecular Biology; Chemistry, Applied; Polymer Science
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Chemistry; Polymer Science
GA LZ3EA
UT WOS:000541109300009
PM 32339592
DA 2025-04-10
ER

PT J
AU Yuasa, H
   Kawamura, K
   Yamamoto, H
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AF Yuasa, H
   Kawamura, K
   Yamamoto, H
   Takagi, T
TI The structural organization of ascidian Halocynthia roretzi
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SO JOURNAL OF BIOCHEMISTRY
LA English
DT Article
DE ascidian (Halocynthia roretzi); genomic structures; molecular evolution;
   trans-splicing; troponin I
ID CHORDATE EVOLUTION; EXPRESSION; SEQUENCE; MUSCLE; ISOFORMS; PROTEIN;
   EMBRYO
AB The organization of troponin I (TnI) genes from the ascidian Halocynthia roretzi have been determined. Halocynthia possesses roughly two types of TnI isoforms. One type is a single-copied adult TnI (adTnI) gene, which contains eight exons and seven introns. adTnI expresses two isoforms, the shorter body wall muscle TnI and the longer cardiac TnI, through alternative splicing. The mRNAs of these TnI isoforms may undergo trans-splicing of the 5'-leader sequences, like the TnI mRNA of another ascidian species, Ciona intestinalis. The other type comprises multi-copied larval TnI (laTnI) genes. Halocynthia has at least three laTnIs (alpha, beta, and gamma), which are composed of five exons and four introns, and two of them (alpha and gamma) are clustered in tandem. All laTnIs have B- and M-regions within their 5'-upstream regions, which have been discovered to be the regulatory elements of Halocynthia larval actin genes. The expression of Halocynthia laTnIs and larval actins may be regulated in the same manner. It is known that Ciona does not possess a larva-specific TnI isoform. The phylogenetic tree of ascidian TnIs suggests that laTnIs might have only been generated within the Pleurogona lineage after Enterogona/Pleurogona divergence, and this scenario well agrees with the absence of laTnIs in Ciona.
C1 Kochi Univ, Fac Sci, Biochem Lab, Kochi 7808520, Japan.
   Kochi Univ, Fac Sci, Lab Cellular & Mol Biotechnol, Kochi 7808520, Japan.
   Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Sendai, Miyagi 9808578, Japan.
C3 Kochi University; Kochi University; Tohoku University
RP Yuasa, H (corresponding author), Kochi Univ, Fac Sci, Biochem Lab, Kochi 7808520, Japan.
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NR 18
TC 22
Z9 24
U1 1
U2 4
PU JAPANESE BIOCHEMICAL SOC
PI TOKYO
PA ISHIKAWA BLDG-3F, 25-16 HONGO-5-CHOME, BUNKYO-KU, TOKYO, 113, JAPAN
SN 0021-924X
J9 J BIOCHEM
JI J. Biochem.
PD JUL
PY 2002
VL 132
IS 1
BP 135
EP 141
DI 10.1093/oxfordjournals.jbchem.a003191
PG 7
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 573PA
UT WOS:000176839000018
PM 12097170
DA 2025-04-10
ER

PT J
AU Rosskopf, D
   Manthey, I
   Siffert, W
AF Rosskopf, D
   Manthey, I
   Siffert, W
TI Identification and ethnic distribution of major haplotypes in the gene
   GNB3 encoding the G-protein β3 subunit
SO PHARMACOGENETICS
LA English
DT Article
DE G-protein; genetic polymorphism; signal transduction; race
ID SUBUNIT 825T ALLELE; BETA-3 SUBUNIT; BLOOD-PRESSURE; C825T POLYMORPHISM;
   HUMAN NEUTROPHILS; CRYSTAL-STRUCTURE; VARIANT; ASSOCIATION;
   HYPERTENSION; GAMMA
AB The 825T-allele of the gene GNB3 encoding the G protein beta3 subunit is associated with hypertension and obesity, and identifies individuals highly responsive to diuretic therapy. Gbeta3s, a Gbeta3 protein variant generated by alternative splicing in carriers of the 825T-allele, is linked to increased signal transduction and is a potential cause for the observed pathophysiology. Here, we searched the entire GNB3 gene for additional polymorphisms and analysed their prevalence in Caucasian, black African and Asian populations. We detected six novel single nucleotide polymorphisms which were termed according to their location as G76A, G1906T, G2906A, A3882C, G5177A, and G5249A. Furthermore, we found a CACA-insertion-deletion polymorphism at position 6496. Genotyping and association studies resulted in the definition of two major GNB3 haplotypes, termed 'C-haplotype' (alleles 825C, 3882A, 5249G, 6496CACA(-)) and 'T-haplotype' (alleles 825T, 3882C, 5249A, 6496CACA(+)). Molecular modelling studies revealed that the pre-mRNA structures of both haplotypes exhibit marked differences which may account for the alternative splicing predominantly observed with the T-haplotype. The prevalence of these haplotypes in major ethnic populations differs considerably. Furthermore, we detected additional frequent GNB3 polymorphisms. These variants were restricted to one or two major ethnic populations. Our results will aid future studies on population-specific effects of the GNB3 variants on risk and course of frequent diseases, including hypertension, obesity, stroke and myocardial infarction. Furthermore, they will contribute to the understanding of GNB3-related population-specific pharmacogenetic differences in the response to major drugs, as already shown for diuretics and antidepressants. Pharmacogenetics 12:209-220 (C) 2002 Lippincott Williams Wilkins.
C1 Univ Essen Gesamthsch Klinikum, Inst Pharmakol, D-45147 Essen, Germany.
C3 University of Duisburg Essen
RP Univ Essen Gesamthsch Klinikum, Inst Pharmakol, Hufelandstr 55, D-45147 Essen, Germany.
EM dieter.rosskopf@uni-essen.de
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NR 48
TC 76
Z9 80
U1 0
U2 3
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0960-314X
J9 PHARMACOGENETICS
JI Pharmacogenetics
PD APR
PY 2002
VL 12
IS 3
BP 209
EP 220
DI 10.1097/00008571-200204000-00005
PG 12
WC Biotechnology & Applied Microbiology; Genetics & Heredity; Pharmacology
   & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biotechnology & Applied Microbiology; Genetics & Heredity; Pharmacology
   & Pharmacy
GA 542RF
UT WOS:000175057600005
PM 11927836
DA 2025-04-10
ER

PT J
AU Zhang, SS
   Wang, J
   Zhang, AA
   Zhang, XW
   You, T
   Xie, DX
   Yang, WK
   Chen, YH
   Zhang, XT
   Di, CX
   Xie, XD
AF Zhang, Shasha
   Wang, Jing
   Zhang, Anan
   Zhang, Xiaowei
   You, Tao
   Xie, Dingxiong
   Yang, Wenke
   Chen, Yuhong
   Zhang, Xuetian
   Di, Cuixia
   Xie, Xiaodong
TI A SNP involved in alternative splicing of ABCB1 is associated
   with clopidogrel resistance in coronary heart disease in Chinese
   population
SO AGING-US
LA English
DT Article
DE ABCB1; single nucleotide polymorphism; clopidogrel resistance;
   alternative splicing; silico analysis
ID P-GLYCOPROTEIN; INTERVENTION; POLYMORPHISM; MUTATION; CYP2C19; VARIANT;
   IMPACT; RISK
AB Although many scientists are studying the association between genetic polymorphism of ABCB1 and CR in patients, the molecular mechanism has not been further studied in patients with CHD. This study investigated the relationship between SNP of the ABCB1 gene in patients with CHD and CR, and whether the polymorphismof the ABCB1 gene affects the AS of the gene. 741 patients were enrolled in the study, 316 CR cases and 425 NCR cases. The correlation between CR risk and clinical-pathological characteristics were studied. Additionally, the five SNPs were analysed by PCR and Mass Array genotyping methods. Furthermore, silicon analysis was used to predict whether the polymorphism affects the process of AS. Results showed that there was a significant correlation between rs1045642 polymorphism and CR in genotyping and allele analysis. The rs1045642 polymorphism of the ABCB1 gene of CHD patients carrying the A allele are more likely to develop CR. Silicon analysis showed that rs1045642 generated a new ESE sequence which might affect AS of ABCB1 gene. We hypothesize that the mechanism of CR might be caused by a change in the AS caused by the polymorphism of the gene. Thus, this work provides guidance for the clinical use of clopidogrel.
C1 [Zhang, Shasha; Wang, Jing; Yang, Wenke; Xie, Xiaodong] Lanzhou Univ, Sch Basic Med Sci, Lanzhou 730000, Peoples R China.
   [Xie, Xiaodong] Gansu Prov Matern & Childcare Hosp, Lanzhou 730050, Peoples R China.
   [Chen, Yuhong; Zhang, Xuetian; Di, Cuixia] Chinese Acad Sci, Biomed Res Ctr, Inst Modern Phys, Lanzhou 730000, Peoples R China.
   [Zhang, Anan] Lanzhou Univ, Hosp 2, Lanzhou 730000, Peoples R China.
   [Zhang, Xiaowei] Lanzhou Univ, Dept Cardiol, Hosp 2, Lanzhou 730000, Peoples R China.
   [You, Tao] Gansu Prov Hosp, Dept Cardiac Surg, Lanzhou 730000, Peoples R China.
   [You, Tao] Congenital Heart Dis Diag & Treatment Gansu Prov, Lanzhou 730000, Peoples R China.
   [Xie, Dingxiong] Gansu Cardiovasc Inst, Lanzhou 730050, Peoples R China.
C3 Lanzhou University; Chinese Academy of Sciences; Institute of Modern
   Physics, CAS; Lanzhou University; Lanzhou University
RP Xie, XD (corresponding author), Lanzhou Univ, Sch Basic Med Sci, Lanzhou 730000, Peoples R China.; Xie, XD (corresponding author), Gansu Prov Matern & Childcare Hosp, Lanzhou 730050, Peoples R China.; Di, CX (corresponding author), Chinese Acad Sci, Biomed Res Ctr, Inst Modern Phys, Lanzhou 730000, Peoples R China.
EM dicx@impcas.ac.cn; xdxie@lzu.edu.cn
RI Zhang, Xiaowei/HTS-3267-2023; wu, cheng-chieh/JRX-5241-2023
FU national Key R&D project of the Chinese Ministry of Science and
   Technology [2018YFE0205100]; National Natural Science Foundation of
   China [11675234, 31670379]; Key Program of the National Natural Science
   Foundation of China [U1632270]
FX The national Key R&D project of the Chinese Ministry of Science and
   Technology (2018YFE0205100), the current study was supported by the
   National Natural Science Foundation of China (31670379), the Key Program
   of the National Natural Science Foundation of China (U1632270), and the
   National Natural Science Foundation of China (11675234).
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NR 46
TC 5
Z9 6
U1 1
U2 21
PU IMPACT JOURNALS LLC
PI ORCHARD PARK
PA 6666 E QUAKER ST, STE 1, ORCHARD PARK, NY 14127 USA
SN 1945-4589
J9 AGING-US
JI Aging-US
PD DEC 31
PY 2020
VL 12
IS 24
BP 25684
EP 25699
PG 16
WC Cell Biology; Geriatrics & Gerontology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Geriatrics & Gerontology
GA PP1BN
UT WOS:000605604000019
PM 33232268
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Serrano, J
   Fernández, AP
   Sánchez, J
   Rodrigo, J
   Martínez, A
AF Serrano, Julia
   Fernandez, Ana Patricia
   Sanchez, Jaime
   Rodrigo, Jose
   Martinez, Alfredo
TI Adrenomedullin expression is up-regulated by acute hypobaric hypoxia in
   the cerebral cortex of the adult rat
SO BRAIN PATHOLOGY
LA English
DT Article
DE adrenomedullin; alternative splicing; cerebral cortex; hypobaric
   hypoxia; neuroprotection; real-time PCR
ID CENTRAL-NERVOUS-SYSTEM; ISCHEMIC BRAIN INJURY; NITRIC-OXIDE SYNTHASE;
   HYPOTENSIVE PEPTIDE; PROTEIN NITRATION; ARTERY OCCLUSION;
   CAUDATE-PUTAMEN; IMMUNOREACTIVITY; CARCINOGENESIS; IDENTIFICATION
AB Hypobaric hypoxia can produce neuropsychological disorders such as insomnia, dizziness, memory deficiencies, headache and nausea. Here we report the changes in adrenomedullin (AM) expression observed in rats exposed to hypobaric hypoxia and different times of reoxygenation. AM immunoreactivity was transiently elevated in the cerebral cortex after 7 h of exposure to a simulated altitude of 8325 m (27 000 ft). This higher expression was seen in all pyramidal cells and in a subset of small interneurons. AM-positive nonpyramidal neurons contained also calbindin and calretinin, but no parvalbumin immunoreactivity, thus identifying them as bipolar and double bouquet cells. Small blood vessels and related astroglia also became immunoreactive following the hypobaric insult. AM up-regulation decreased progressively with the time of reoxygenation, reaching almost control levels after 5 days. Real-time PCR quantification of AM mRNA and Western blotting confirmed the up-regulation of AM expression following hypobaria. In addition, hypobaria modulates alternative splicing of the AM gene resulting in a higher production of AM. Our data show that AM expression regulation constitutes a cortical response to hypobaria, suggesting that AM modulation may provide new therapeutic avenues to prevent and/or treat the symptoms produced by hypobaria.
C1 [Serrano, Julia; Fernandez, Ana Patricia; Rodrigo, Jose; Martinez, Alfredo] CSIC, Dept Mol Cellular & Dev Biol, Inst Cajal, Madrid 28002, Spain.
   [Sanchez, Jaime] Spanish Minist Def, Aerosp Med Ctr, Madrid, Spain.
C3 Consejo Superior de Investigaciones Cientificas (CSIC); CSIC - Instituto
   Cajal (IC)
RP Martínez, A (corresponding author), CSIC, Dept Mol Cellular & Dev Biol, Inst Cajal, Avd Doctor Arce 37, Madrid 28002, Spain.
EM amartinez@cajal.csic.es
RI Gonçalves Sánchez, Jaime/A-8838-2019; Fernández, Ana/K-7901-2014;
   Martinez, Alfredo/A-3077-2013
OI Fernandez, Ana Patricia/0000-0002-3843-4715; Martinez,
   Alfredo/0000-0003-4882-4044
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NR 42
TC 19
Z9 20
U1 0
U2 4
PU WILEY-BLACKWELL
PI MALDEN
PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA
SN 1015-6305
J9 BRAIN PATHOL
JI Brain Pathol.
PD JUL
PY 2008
VL 18
IS 3
BP 434
EP 442
DI 10.1111/j.1750-3639.2008.00142.x
PG 9
WC Clinical Neurology; Neurosciences; Pathology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology; Pathology
GA 308MU
UT WOS:000256395500014
PM 18371176
OA Green Published, Bronze
DA 2025-04-10
ER

PT J
AU Delcombel, R
   Janssen, L
   Vassy, R
   Gammons, M
   Haddad, O
   Richard, B
   Letourneur, D
   Bates, D
   Hendricks, C
   Waltenberger, J
   Starzec, A
   Sounni, NE
   Noël, A
   Deroanne, C
   Lambert, C
   Colige, A
AF Delcombel, Romain
   Janssen, Lauriane
   Vassy, Roger
   Gammons, Melissa
   Haddad, Oualid
   Richard, Benjamin
   Letourneur, Didier
   Bates, David
   Hendricks, Celine
   Waltenberger, Johannes
   Starzec, Anna
   Sounni, Nor Eddine
   Noel, Agnes
   Deroanne, Christophe
   Lambert, Charles
   Colige, Alain
TI New prospects in the roles of the C-terminal domains of VEGF-A and their
   cooperation for ligand binding, cellular signaling and vessels formation
SO ANGIOGENESIS
LA English
DT Article
DE VEGF isoforms; Angiogenesis; Neuropilin-1; VEGF receptor; Alternative
   splicing
ID ENDOTHELIAL GROWTH-FACTOR; SPLICE VARIANT; MATRIX METALLOPROTEINASES;
   EXTRACELLULAR-MATRIX; STRUCTURAL BASIS; FACTOR FAMILY; NEUROPILIN-1;
   VEGF(165)B; ANGIOGENESIS; RETINOPATHY
AB VEGF-A is a crucial growth factor for blood vessel homeostasis and pathological angiogenesis. Due to alternative splicing of its pre-mRNA, VEGF-A is produced under several isoforms characterized by the combination of their C-terminal domains, which determines their respective structure, availability and affinity for co-receptors. As controversies still exist about the specific roles of these exon-encoded domains, we systematically compared the properties of eight natural and artificial variants containing the domains encoded by exons 1-4 and various combinations of the domains encoded by exons 5, 7 and 8a or 8b. All the variants (VEGF(111)a, VEGF(111)b, VEGF(121)a, VEGF(121)b, VEGF(155)a, VEGF(155)b, VEGF(165)a, VEGF(165)b) have a similar affinity for VEGF-R2, as determined by Surface plasmon resonance analyses. They strongly differ however in terms of binding to neuropilin-1 and heparin/heparan sulfate proteoglycans. Data indicate that the 6 amino acids encoded by exon 8a must be present and cooperate with those of exons 5 or 7 for efficient binding, which was confirmed in cell culture models. We further showed that VEGF(165)b has inhibitory effects in vitro, as previously reported, but that the shortest VEGF variant possessing also the 6 amino acids encoded by exon 8b (VEGF(111)b) is remarkably proangiogenic, demonstrating the critical importance of domain interactions for defining the VEGF properties. The number, size and localization of newly formed blood vessels in a model of tumour angiogenesis strongly depend also on the C-terminal domain composition, suggesting that association of several VEGF isoforms may be more efficient for treating ischemic diseases than the use of any single variant.
C1 [Delcombel, Romain; Janssen, Lauriane; Hendricks, Celine; Deroanne, Christophe; Lambert, Charles; Colige, Alain] Univ Liege, GIGA R, Lab Connect Tissues Biol, B-4000 Liege, Belgium.
   [Vassy, Roger; Starzec, Anna] Univ Paris 13, EA4222, Sorbonne Paris Cite, F-93000 Bobigny, France.
   [Gammons, Melissa; Bates, David] Univ Bristol, Sch Physiol & Pharmacol, Microvasc Res Labs, Bristol BS2 8EJ, Avon, England.
   [Haddad, Oualid; Richard, Benjamin; Letourneur, Didier] Univ Paris 13, INSERM, U698, Sorbonne Paris Cite, F-93000 Bobigny, France.
   [Waltenberger, Johannes] Univ Hosp Munster, Dept Cardiol & Angiol, D-48149 Munster, Germany.
   [Sounni, Nor Eddine; Noel, Agnes] Univ Liege, GIGA R, Lab Tumour & Dev Biol, B-4000 Liege, Belgium.
C3 University of Liege; Universite Paris 13; University of Bristol;
   Universite Paris 13; Institut National de la Sante et de la Recherche
   Medicale (Inserm); University of Munster; University of Liege
RP Delcombel, R (corresponding author), Univ Liege, GIGA R, Lab Connect Tissues Biol, Ave Hop 3, B-4000 Liege, Belgium.
EM rdelcombel@ulg.ac.be
RI Sounni, Nor Eddine/AAY-8766-2021; Letourneur, Didier/H-5268-2012;
   Waltenberger, Johannes/I-1813-2013
OI Sounni, Nor Eddine/0000-0001-9962-9236; Noel, Agnes/0000-0002-7670-6179;
   Haddad, Oualid/0000-0002-3729-1038; Letourneur,
   Didier/0000-0003-2197-9468; Waltenberger, Johannes/0000-0002-2417-9880;
   gammons, melissa/0000-0001-9661-9331; Richard,
   Benjamin/0000-0003-4531-1905; Janssen, Lauriane/0000-0002-9896-0055;
   Bates, David/0000-0003-4850-2360
FU Belgian Foundation against Cancer, Nonprofit Organization
   [197-2008-FCC-VEGF111]; Region Wallonne [816865]; Skin Cancer Research
   Fund (ScaRF); INSERM; University Paris; FP7 Nanoantenna Project from EU
FX The scientific advice of Professor B. Nusgens, the technical assistance
   of A. Hoffmann, A. Heyeres, F. Olivier and L. Duwez and the informatic
   skill of N. Garbacki were greatly appreciated. We thank the
   Genotranscriptomics and Proteomics Platforms of the GIGA (University of
   Liege). This work was supported by the "Belgian Foundation against
   Cancer, Nonprofit Organization" (197-2008-FCC-VEGF111), the "Region
   Wallonne" (DGO6, no 816865), Skin Cancer Research Fund (ScaRF), INSERM,
   University Paris 13 and FP7 Nanoantenna Project from EU.
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NR 48
TC 42
Z9 54
U1 0
U2 29
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0969-6970
EI 1573-7209
J9 ANGIOGENESIS
JI Angiogenesis
PD APR
PY 2013
VL 16
IS 2
BP 353
EP 371
DI 10.1007/s10456-012-9320-y
PG 19
WC Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 107FC
UT WOS:000316199200007
PM 23254820
DA 2025-04-10
ER

PT J
AU Srirangalingam, U
   Khoo, B
   Matson, M
   Carpenter, R
   Reznek, R
   Maher, ER
   Chew, SL
   Drake, WM
AF Srirangalingam, U.
   Khoo, B.
   Matson, M.
   Carpenter, R.
   Reznek, R.
   Maher, E. R.
   Chew, S. L.
   Drake, W. M.
TI SDHD-Related Chromaffin Tumours: Disease Localisation to Genetic
   Dysfunction
SO HORMONE RESEARCH IN PAEDIATRICS
LA English
DT Article
DE Phaeochromocytoma; Paraganglioma; Succinate dehydrogenase D; Adrenal
   venous sampling catheter; Alternative splicing
ID SUCCINATE-DEHYDROGENASE; HEREDITARY PARAGANGLIOMA; FAMILIAL
   PHEOCHROMOCYTOMA; COMPLEX II; MUTATIONS
AB Background/Aims: To describe the management of a subject with multiple chromaffin tumours found to have a novel succinate dehydrogenase D (SDHD) mutation. Case: A 15-year-old boy with marked hypertension was found to have elevated urinary catecholamines and initial imaging thought to represent bilateral adrenal phaeochromocytomas. An adrenal venous catheter was required to clarify a right adrenal phaeochromocytoma and a left abdominal paraganglioma, distinct from the left adrenal gland. Excision of these tumours, with preservation of the left adrenal gland, provided a cure for this subject without the need for lifelong steroid replacement. Genetic analysis revealed a novel SDHD mutation (c. 169 + 1 G>A) which was shown to result in loss of the 5' splice site and exclusion of exon 2 during splicing. This suggests the likely pathogenicity of this mutation. Disease surveillance in this subject and genetic screening of first degree relatives is ongoing. Conclusions: Genetic testing should be considered in all subjects presenting with a chromaffin tumour. In certain circumstances an adrenal venous sampling catheter for catecholamines may clarify diagnostic uncertainty. The complex management issues raised in the care of these subjects requires the involvement of a multidisciplinary team with the relevant expertise. Copyright (C) 2010 S. Karger AG, Basel
C1 [Srirangalingam, U.; Khoo, B.; Chew, S. L.; Drake, W. M.] St Bartholomews Hosp, Dept Endocrinol, London EC1A 7BE, England.
   [Matson, M.; Reznek, R.] St Bartholomews Hosp, Ctr Canc Imaging, London EC1A 7BE, England.
   [Carpenter, R.] St Bartholomews Hosp, Dept Surg, London EC1A 7BE, England.
   [Maher, E. R.] Univ Birmingham, Sch Med, Dept Med & Mol Genet, Birmingham, W Midlands, England.
C3 University of London; Queen Mary University London; University of
   London; Queen Mary University London; University of London; Queen Mary
   University London; University of Birmingham
RP Srirangalingam, U (corresponding author), St Bartholomews Hosp, Dept Endocrinol, London EC1A 7BE, England.
EM u.srirangalingam@qmul.ac.uk
RI ; Khoo, Bernard/B-1247-2009
OI srirangalingam, umasuthan/0000-0001-8425-8858; Khoo,
   Bernard/0000-0002-4223-9736
FU The Research Advisory Board of St Bartholomew's and the The Royal London
   Charitable foundation [417/425]
FX U.S. was supported by The Research Advisory Board of St Bartholomew's
   and The Royal London Charitable foundation grant number 417/425.
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NR 17
TC 4
Z9 4
U1 0
U2 1
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1663-2818
J9 HORM RES PAEDIAT
JI Horm. Res. Paediatr.
PY 2010
VL 73
IS 2
BP 135
EP 139
DI 10.1159/000277659
PG 5
WC Endocrinology & Metabolism; Pediatrics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism; Pediatrics
GA 586OH
UT WOS:000276919500008
PM 20190551
DA 2025-04-10
ER

PT J
AU Dong, K
   Zhao, QC
   Xue, YQ
   Wei, YX
   Zhang, Y
   Yang, Y
AF Dong, Kun
   Zhao, Qiuchen
   Xue, Yaqiang
   Wei, Yaxun
   Zhang, Yi
   Yang, Yan
TI TCTP participates in hepatic metabolism by regulating gene expression
   involved in insulin resistance
SO GENE
LA English
DT Article
DE RNA-seq; TCTP; Insulin resistance; Liver metabolism
ID CONTROLLED TUMOR PROTEIN; HISTAMINE-RELEASING-FACTOR; FATTY
   LIVER-DISEASE; PHOSPHOENOLPYRUVATE CARBOXYKINASE;
   MOLECULAR-IDENTIFICATION; CELL PROLIFERATION; SIGNALING PATHWAY; INNATE
   IMMUNITY; IN-VIVO; OBESITY
AB Translationally controlled tumor protein (TCTP) has various cellular functions and molecular interactions, many related to its growth-promoting and antiapoptotic properties. Recently, TCTP expression was reported to increases in insulin-resistant mice fed with high-fat diet. TCTP is a multifunctional protein, but its role in liver metabolism is unclear. Here, we investigated the function and mechanism of TCTP in HepG2 cells. Knock-down of TCTP led to 287 differentially expressed genes (DEGs) that were highly associated with cellular apoptosis and signal response, TNF and NF-kappa B signaling pathways, glycolysis/gluconeogenesis, insulin resistance, FoxO and insulin signaling pathways, adipocytokine and AMPK signaling pathways. shTCTP downregulated the expression of the key gluconeogenesis enzyme phosphoenolpyruvate carboxykinase (PCK1). Furthermore, TCTP regulated the alternative splicing of genes enriched in the phospholipid biosynthetic process and glycerophospholipid metabolism. We further showed that shTCTP down-regulated the intracellular levels of triglyceride and total cholesterol. Our results showed that TCTP regulates the liver cell transcriptome at both the transcriptional and alternative splicing levels. The TCTP regulatory network predicts the biological functions of TCTP in glucose and lipid metabolism, and also insulin resistance, which may be associated with liver metabolism and diseases such as nonalcoholic fatty liver disease.
C1 [Dong, Kun; Yang, Yan] Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Endocrinol, 1095 Jie Fang Ave, Wuhan 430030, Hubei, Peoples R China.
   [Zhao, Qiuchen] Wuhan Univ, Coll Life Sci, 299 Ba Yi Ave, Wuhan 430072, Peoples R China.
   [Xue, Yaqiang] ABLife Inc, Lab Genome Regulat & Human Hlth, Opt Valley Int Biomed Pk,Bldg 18-2, Wuhan 430075, Hubei, Peoples R China.
   [Xue, Yaqiang; Wei, Yaxun] ABLife Inc, Ctr Genome Anal, Opt Valley Int Biomed Pk,Bldg 18-1, Wuhan 430075, Hubei, Peoples R China.
   [Zhang, Yi] ABLife BioBigData Inst, Opt Valley Int Biomed Pk,Bldg 18-1, Wuhan 430075, Hubei, Peoples R China.
C3 Huazhong University of Science & Technology; Wuhan University
RP Yang, Y (corresponding author), Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Endocrinol, 1095 Jie Fang Ave, Wuhan 430030, Hubei, Peoples R China.
EM kundong2019@hotmail.com; 2018302040018@whu.edu.cn; yaqiangxue@ablife.cc;
   yaxunwei@ablife.cc; yizhang@ablife.cc; yangyan6910@163.com
RI Liu, Yujia/AGE-3885-2022
FU National Natural Science Foundation of China [81670754, 81600661,
   81974114]
FX This work was supported by the National Natural Science Foundation of
   China (81670754, 81600661 and 81974114)
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NR 68
TC 5
Z9 5
U1 0
U2 21
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD FEB 5
PY 2021
VL 768
AR 145263
DI 10.1016/j.gene.2020.145263
EA JAN 2021
PG 9
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA PS9JR
UT WOS:000608238500002
PM 33122078
DA 2025-04-10
ER

PT J
AU Pyun, WB
   Hahn, W
   Kim, DS
   Yoo, WS
   Lee, SD
   Won, JH
   Rho, BS
   Park, ZY
   Kim, JM
   Kim, S
AF Pyun, W-B
   Hahn, W.
   Kim, D-S
   Yoo, W-S
   Lee, S-D
   Won, J-H
   Rho, B-S
   Park, Z-Y
   Kim, J-M
   Kim, S.
TI Naked DNA expressing two isoforms of hepatocyte growth factor induces
   collateral artery augmentation in a rabbit model of limb ischemia
SO GENE THERAPY
LA English
DT Article
DE hepatocyte growth factor (HGF); isoform; ischemic limb disease
ID INTRAMUSCULAR GENE-TRANSFER; CHRONIC MYOCARDIAL-ISCHEMIA; THERAPEUTIC
   ANGIOGENESIS; DOUBLE-BLIND; HEART-FAILURE; INTRAMYOCARDIAL TRANSFER;
   SWINE MYOCARDIUM; CANINE HEART; DISEASE; PLASMID
AB Hepatocyte growth factor (HGF) has been shown to induce angiogenesis in vivo and has potential as a candidate gene for 'therapeutic angiogenesis'. In vivo, two isoforms of HGF, HGF(723) and HGF(728), consisting of 723 and 728 amino acids, are generated through alternative splicing between exons 4 and 5, but the biological effects of their coexpression have not yet been elucidated. In this study, we generated a series of genomic-complementary DNA (cDNA) hybrids of the HGF gene by inserting various truncated intron 4 into the junction of exons 4 and 5 of HGF cDNA and analyzed the biological activities of these hybrid constructs. We showed that: (1) the hybrid called HGF-X7, which contained 1502 base pairs of intron 4, could drive a higher level of HGF expression than other hybrid constructs and cDNAs of each isoform alone; (2) the pCK vector was most efficient for the gene expression of HGF-X7; (3) coexpression of both isoforms of HGF could more efficiently induce the migration of human umbilical vein endothelial cell (HUVEC) and of the mouse myoblast cell line C2C12 myoblasts than a single isoform of HGF and human vascular endothelial growth factor (VEGF)(165) at a given concentration; (4) intramuscular administration of pCK-HGF-X7 resulted in transient and localized HGF expression in the injected muscle without an increase in the HGF protein levels in other tissues including serum; and (5) intramuscular injection of pCK-HGF-X7 could more efficiently increase the number of angiographically recognizable collateral vessels, as well as improve an intra-arterial Doppler wire-measured blood flow in the rabbit model of hindlimb ischemia when compared with the identical vector encoding VEGF(165) gene. These results showed that transfer of the genomic-cDNA hybrid of the HGF gene could be used as a potential therapeutic approach to human vascular diseases. Gene Therapy (2010) 17, 1442-1452; doi:10.1038/gt.2010.101; published online 29 July 2010
C1 [Kim, S.] Seoul Natl Univ, Sch Biol Sci, Seoul 151742, South Korea.
   [Pyun, W-B] Ewha Womans Univ, Coll Med, Dept Cardiol, Mokdong Hosp, Seoul, South Korea.
   [Hahn, W.; Kim, D-S; Yoo, W-S; Lee, S-D; Won, J-H; Kim, J-M; Kim, S.] Seoul Natl Univ, ViroMed Co Ltd, Seoul 151742, South Korea.
   [Rho, B-S] Songdo Technopk, Dept Biotechnol, Inchon, South Korea.
   [Park, Z-Y] Gwangju Inst Sci & Technol, Dept Life Sci, Kwangju, South Korea.
C3 Seoul National University (SNU); Ewha Womans University; Seoul National
   University (SNU); Gwangju Institute of Science & Technology (GIST)
RP Kim, S (corresponding author), Seoul Natl Univ, Sch Biol Sci, Seoul 151742, South Korea.
EM sunyoung@snu.ac.kr
RI Kim, DaiSik/D-5159-2009; Lee, Soong/J-5584-2012
FU Korean Ministry of Knowledge Economy [10031644]; Korea Science and
   Engineering Foundation [R11-2005-009-06003-0]
FX This work was supported by grants from the Korean Ministry of Knowledge
   Economy (grant no. 10031644) and also from the Science Research Center
   program of the Korea Science and Engineering Foundation (grant no.
   R11-2005-009-06003-0)
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NR 44
TC 41
Z9 48
U1 0
U2 8
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0969-7128
EI 1476-5462
J9 GENE THER
JI Gene Ther.
PD DEC
PY 2010
VL 17
IS 12
BP 1442
EP 1452
DI 10.1038/gt.2010.101
PG 11
WC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
   Genetics & Heredity; Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
   Genetics & Heredity; Research & Experimental Medicine
GA 692FZ
UT WOS:000285140000004
PM 20668482
DA 2025-04-10
ER

PT J
AU Sinn, PL
   Sigmund, CD
AF Sinn, PL
   Sigmund, CD
TI Identification of three human renin mRNA isoforms from alternative
   tissue-specific transcriptional initiation
SO PHYSIOLOGICAL GENOMICS
LA English
DT Article
DE transgenic mice; brain; gene expression; gene regulation;
   renin-angiotensin system
ID ANGIOTENSIN-II; TRANSGENIC MICE; MESSENGER-RNA; EXPRESSION; GENE;
   GROWTH; ANGIOGENESIS; HYPERTENSION; ASTROCYTES; PROMOTER
AB We have reported that mice transgenic for 140- and 160-kb P1 phage artificial chromosomes (PACs) containing the human renin gene express the gene in a highly tissue-restricted and regulated manner. Herein, we demonstrate that the transgene is also expressed appropriately throughout development. In the course of this investigation, we identified the existence of three transcriptional isoforms of human renin mRNA derived from the utilization of alternative transcription start sites. The first isoform is the kidney-specific isoform, which utilizes the classic renin promoter. The second is a brain-specific isoform, which when previously identified in rats and mice was due to a transcription initiation site within intron A. However, the start site in the human gene resides similar to 1,325 bp upstream of the classic promoter and encodes a new exon 1 (termed exon 1b) that splices directly to exon 2. The third isoform is lung specific and is due to transcriptional initiation 79 bp directly upstream of exon 2, fusing additional DNA within intron A (termed exon 1c) directly to exon 2 without splicing. Importantly, the alternative first exons observed in the PAC transgenic mice were identical to those used to transcribe renin in human fetal kidney, brain, and lung, suggesting these sites are bona fide isoforms of human renin mRNA and not artifacts of transgenesis. Moreover, the subtle differences in tissue-specific transcriptional initiation observed in the renin gene of rats and humans can be faithfully and accurately emulated in a transgenic model.
C1 Univ Iowa, Coll Med, Dept Internal Med,Transgen & Gene Targeting Facil, Mol Biol Interdisciplinary Program,Med Lab 2191, Iowa City, IA 52242 USA.
   Univ Iowa, Coll Med, Dept Physiol & Biophys, Iowa City, IA 52242 USA.
C3 University of Iowa; University of Iowa
RP Sigmund, CD (corresponding author), Univ Iowa, Coll Med, Dept Internal Med,Transgen & Gene Targeting Facil, Mol Biol Interdisciplinary Program,Med Lab 2191, Iowa City, IA 52242 USA.
RI Sigmund, Curt/W-1611-2019; Sinn, Patrick/M-8026-2018
OI Sinn, Patrick/0000-0002-9746-966X; Sigmund, Curt/0000-0002-1453-0921
FU NHLBI NIH HHS [HL-55006, HL-48058] Funding Source: Medline; NINDS NIH
   HHS [NS-24621] Funding Source: Medline
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NR 24
TC 92
Z9 96
U1 1
U2 5
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 1094-8341
J9 PHYSIOL GENOMICS
JI Physiol. Genomics
PD JUN 29
PY 2000
VL 3
IS 1
BP 25
EP 31
DI 10.1152/physiolgenomics.2000.3.1.25
PG 7
WC Cell Biology; Genetics & Heredity; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Genetics & Heredity; Physiology
GA 329DU
UT WOS:000087891500004
PM 11015597
DA 2025-04-10
ER

PT J
AU Velthuis, AJWT
   Bagowski, CP
AF Velthuis, Aartjan J. W. te
   Bagowski, Christoph P.
TI PDZ and LIM domain-encoding genes: Molecular interactions and their role
   in development
SO THESCIENTIFICWORLDJOURNAL
LA English
DT Review
DE PDZ; LIM domain; enigma; LMP1; PDLIM7; ENH; enigma homolog; PDLIM5;
   ZASP; cypher; LDB3; LIM domain kinase; LIMK1; LIMK2; RIL; PDLIM4; elfin;
   CLP36; PDLIM1; mystique; PDLIM2; SLIM; ALP; PDLIM3; LMO7; PCD1; FBXO20;
   actin cytoskeleton; E3 ligase; NF-kappa B
ID PROTEIN-KINASE-C; GROWTH CONE COLLAPSE; CARDIAC TROPONIN-I;
   TISSUE-SPECIFIC EXPRESSION; ALPHA-ACTININ; COFILIN PHOSPHORYLATION;
   ALTERNATIVE TRANSCRIPTS; GENOMIC ORGANIZATION; SKELETAL-MUSCLE; CDNA
   CLONING
AB PDZ/LIM genes encode a group of proteins that play very important, but diverse, biological roles. They have been implicated in numerous vital processes, e.g., cytoskeleton organization, neuronal signaling, cell lineage specification, organ development, and oncogenesis. In mammals, there are ten genes that encode for both a PDZ domain, and one or several LIM domains: four genes of the ALP subfamily (ALP, Elfin, Mystique, and RIL), three of the Enigma subfamily (Enigma, Enigma Homolog, and ZASP), the two LIM kinases (LIMK1 and LIMK2), and the LIM only protein 7 (LMO7). Functionally, all PDZ and LIM domain proteins share an important trait, i.e., they can associate with and/or influence the actin cytoskeleton. We review here the PDZ and LIM domain-encoding genes and their different gene structures, their binding partners, and their role in development and disease. Emphasis is laid on the important questions: why the combination of a PDZ domain with one or more LIM domains is found in such a diverse group of proteins, and what role the PDZ/LIM module could have in signaling complex assembly and localization. Furthermore, the current knowledge on splice form specific expression and the function of these alternative transcripts during vertebrate development will be discussed, since another source of complexity for the PDZ and LIM domain-encoding proteins is introduced by alternative splicing, which often creates different domain combinations.
C1 Leiden Univ, Inst Biol, Dept Mol & Cellular Biol, NL-2333 AL Leiden, Netherlands.
   Leiden Univ, Inst Biol, Dept Integrat Zool, NL-2333 AL Leiden, Netherlands.
C3 Leiden University; Leiden University - Excl LUMC; Leiden University;
   Leiden University - Excl LUMC
RP Bagowski, CP (corresponding author), Univ Oxford, Sir William Dunn Sch Pathol, S Parks Rd, Oxford OX1 3RE, England.
EM c.p.bagowski@biology.leidenuniv.nl
RI Velthuis, AJ/H-7981-2019
OI te Velthuis, AJ/0000-0002-5129-3953
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NR 150
TC 80
Z9 88
U1 4
U2 37
PU HINDAWI LTD
PI LONDON
PA ADAM HOUSE, 3RD FLR, 1 FITZROY SQ, LONDON, W1T 5HF, ENGLAND
SN 1537-744X
J9 THESCIENTIFICWORLDJO
JI TheScientificWorldJOURNAL
PY 2007
VL 7
BP 1470
EP 1492
DI 10.1100/tsw.2007.232
PG 23
WC Environmental Sciences; Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Environmental Sciences & Ecology; Science & Technology - Other Topics
GA 210BY
UT WOS:000249432900016
PM 17767364
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Gonzalez, IL
AF Gonzalez, IL
TI Barth syndrome:: TAZ gene mutations, mRNAs, and evolution
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE Barth syndrome; dilated cardiomyopathy; TAZ mRNA; neutropenia; tafazzin
ID LINKED CARDIOSKELETAL MYOPATHY; CARDIOLIPIN; NEUTROPENIA; DEFICIENCY;
   VARIANT
AB Barth syndrome (MIM 302060) is an X-linked condition that includes dilated cardiomyopathy, neutropenia, failure to thrive, abnormal mitochondria, and 3-methylglutaconic aciduria. The mutated gene, TAZ, first described in 1996, appeared to produce a large set of alternatively spliced mRNAs with initiations of transcription upstream of exons I and 3. Since then, disease-causing mutations have been found in all exons including, most recently, a missense mutation in the controversial exon 5. Because of the initially described second initiation of transcription in intron 2, with in-frame initiation of translation in exon 3, we hypothesized that subjects with mutations in exons 1 and 2 would produce more normal "short product" that might attenuate their phenotype. Moreover, it was of interest to determine which splice variants were potentially functional as exon 5 is not present in yeast and rodents, and the variant lacking this exon is the most abundant. Using RT-PCR, we characterized TAZ mRNAs in cultured lymphocytes from nine subjects with Barth syndrome and two healthy controls. The TAZ genes and mRNAs of primates were also included. We found the following: (1) there is only one site for initiation of transcription, and the normal alternatively spliced assortment is limited to full-length, Delta 5, Delta 7, Delta 5 Delta 7; (2) there are two alternative splice sites within introns I and 2 that could potentially produce an in-frame product; (3) exon 5 evolved into "exonhood" in the primate lineage after the split between Old World monkeys and hominoid primates; and (4) our results suggest that only two functional protein variants exist in lymphocytes: A5 and full-length. Although exon 5 does not appear to be required for TAZ function in yeast and monkeys, its evolution to a highly conserved spliced exon in hominoid primates and the recent finding of an exon 5 mutation in a patient with Barth syndrome suggest that the full-length variant is important to TAZ function. (c) 2005 Wiley-Liss, Inc.
C1 Alfred I DuPont Hosp Children, Nemours Biomed Res, Wilmington, DE 19899 USA.
C3 Nemours Alfred I. duPont Hospital for Children
RP Gonzalez, IL (corresponding author), Alfred I DuPont Hosp Children, Nemours Biomed Res, POB 269, Wilmington, DE 19899 USA.
EM gonzalezil@comcast.net
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NR 14
TC 58
Z9 71
U1 0
U2 9
PU WILEY-LISS
PI HOBOKEN
PA DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USA
SN 1552-4825
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD MAY 1
PY 2005
VL 134A
IS 4
BP 409
EP 414
DI 10.1002/ajmg.a.30661
PG 6
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 921IT
UT WOS:000228758400011
PM 15793838
DA 2025-04-10
ER

PT J
AU Lin, FY
   Xu, L
   Yuan, R
   Han, ST
   Xie, JN
   Jiang, K
   Li, BJ
   Yu, WM
   Rao, T
   Zhou, XJ
   Cheng, F
AF Lin, Fangyou
   Xu, Lei
   Yuan, Run
   Han, Shangting
   Xie, Jinna
   Jiang, Kun
   Li, Bojun
   Yu, Weimin
   Rao, Ting
   Zhou, Xiangjun
   Cheng, Fan
TI Identification of inflammatory response and alternative splicing in
   acute kidney injury and experimental verification of the involvement of
   RNA-binding protein RBFOX1 in this disease
SO INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
LA English
DT Article
DE acute kidney injury; inflammation; alternative splicing; RNA-binding
   protein; RNA binding fox-1 homolog 1
ID AKI; EXPRESSION; TRANSCRIPTION; MECHANISMS; IMPACT; NRF2
AB An increasing number of inflammatory responses and alternative splicing (AS) have been recently reported to be associated with various kidney diseases. The effect of inflammatory response on acute kidney injury (AKI) has not been fully clarified. In the present study, a mouse model of AKI induced by cisplatin and ischemia-reperfusion (IR) was established and genome-wide profiling analysis and identification of differentially expressed genes (DEGs) in kidney tissue was conducted by Gene Ontology (GO) functional analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, protein-protein interaction (PPI) network analysis and RT-qPCR. The results revealed that common DEGs in AKI induced by cisplatin and IR were enriched in the inflammatory response pathway, including hub genes CSF-1, CXCL1, CXCL10, IL-1 beta, IL-34, IL-6 and TLR2. AS in AKI was initially reported. Cisplatin-induced AS was enriched in the phosphorylation pathway, involving regulated AS genes CSNK1A1, PAK2, CRK, ADK and IKBKB. IR-induced AS was enriched in apoptosis and proliferation pathways, including DEGs ZDHHC16, BCL2L1 and FGF1 regulated by AS. The ability of RNA-binding proteins (RBPs) to regulate AS was coordinated with the function of context-dependent genetic mechanisms. A total of 49 common differentially expressed RBP genes were screened. RNA binding fox-1 homolog 1 (RBFOX1) was revealed to be the top downregulated gene. The relative levels of RBFOX1 in the nuclei of mouse renal tubular epithelial cells in mRNA and proteins were downregulated by cisplatin and IR. Moreover, the biological functions of RBFOX1 were investigated in human renal proximal tubular epithelial cells (HK-2 cells). Results of in vitro experiments revealed that exogenous RBFOX1 inhibited inflammation and oxidative stress to reduce hypoxia/reoxygenation-induced apoptosis of HK-2 cells. This phenomenon may be related to the inhibition of NF-kappa B and the activation of the NRF2/HO-1 signaling pathway. In conclusion, the inflammatory cytokines, AS and RBPs in AKI were analyzed in the present study via whole transcriptome sequencing. It was revealed that the RBP gene RBFOX1 was involved in the pathogenesis of AKI. Thus, the present study provided novel insights into the mechanism of AKI pathogenesis.
C1 [Lin, Fangyou; Xu, Lei; Yuan, Run; Han, Shangting; Xie, Jinna; Jiang, Kun; Li, Bojun; Yu, Weimin; Rao, Ting; Zhou, Xiangjun; Cheng, Fan] Wuhan Univ, Dept Urol, Renmin Hosp, 99 Zhang Rd, Wuhan 430060, Hubei, Peoples R China.
C3 Wuhan University
RP Zhou, XJ; Cheng, F (corresponding author), Wuhan Univ, Dept Urol, Renmin Hosp, 99 Zhang Rd, Wuhan 430060, Hubei, Peoples R China.
EM zxj19840902@163.com; urology1969@aliyun.com
RI Cheng, Fan/JXX-8930-2024
OI Lin, Fangyou/0000-0001-7369-7855
FU National Natural Science Foundation of China [81870471 and81800617];
   Science and Technology Major Project of Hubei Province [2019AEA170,
   2020BCB017]
FX The present study was supported by grants from the National Natural
   Science Foundation of China (grant nos. 81870471 and81800617) and the
   Science and Technology Major Project of Hubei Province (grant nos.
   2019AEA170 and 2020BCB017).
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NR 56
TC 12
Z9 13
U1 0
U2 20
PU SPANDIDOS PUBL LTD
PI ATHENS
PA POB 18179, ATHENS, 116 10, GREECE
SN 1107-3756
EI 1791-244X
J9 INT J MOL MED
JI Int. J. Mol. Med.
PD MAR
PY 2022
VL 49
IS 3
AR 32
DI 10.3892/ijmm.2022.5087
PG 15
WC Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Research & Experimental Medicine
GA YO0QV
UT WOS:000747654100001
PM 35059728
OA hybrid, Green Published
DA 2025-04-10
ER

PT J
AU Fan, XY
   Zhang, YY
   Qiu, LH
   Zhu, W
   Tu, XT
   Miao, YW
AF Fan, Xinyang
   Zhang, Yongyun
   Qiu, Lihua
   Zhu, Wei
   Tu, Xingtiao
   Miao, Yongwang
TI Identification and characterization of alternative splicing variants of
   buffalo LXRα expressed in mammary gland
SO SCIENTIFIC REPORTS
LA English
DT Article
ID X RECEPTOR-ALPHA; DIFFERENTIAL EXPRESSION; LOCALIZATION; ACTIVATION;
   LACTATION; PREGNANCY; MOUSE
AB Liver X receptor alpha (LXR alpha) is a ligand-dependent transcription factor and plays an important role in the regulation of cholesterol homeostasis, fatty acid biosynthesis and glucose metabolism. In this study, transcripts of LXR alpha gene were cloned and characterized from buffalo mammary gland, and three alternative splicing transcripts of buffalo LXR alpha gene were identified, named LXR alpha 1, LXR alpha 2 and LXR alpha 3. The structure of the LXR alpha transcripts of buffalo and cattle was highly similar. Bioinformatics analysis showed that LXR alpha 1 contains two complete functional domains of LXR alpha, one is the DNA-binding domain (NR_DBD_LXR) and the other is the ligand-binding domain (NR_LBD_LXR). The reading frame of LXR alpha 2 is altered due to the skipping of exon 9, which truncates its encoding protein prematurely at the 400th amino acid residue, making it contain a complete DNA-binding domain and part of a ligand-binding domain. Due to the deletion of exon 4, the protein encoded by LXR alpha 3 lacks 89 amino acid residues and contains only a complete ligand-binding domain, which makes it lose its transcriptional regulation function. In addition, motifs and conserved domains of three LXR alpha variants of buffalo were highly consistent with those of corresponding transcripts from other mammal species. Subcellular localization analysis showed that LXR alpha 1 plays a functional role in the nucleus of buffalo mammary epithelial cells, while LXR alpha 2 and LXR alpha 3 are distributed in the nucleus and cytoplasm. Compared with non-lactating period, the mRNA abundance of the three LXR alpha transcripts in the mammary gland tissue of buffalo increased during lactating period, revealing that they play a key role in the synthesis of buffalo milk fat. Among the three LXR alpha transcripts, LXR alpha 1 has the highest expression in the mammary gland, indicating that it is the major transcript in the mammary gland and has important regulatory functions, while LXR alpha 2 and LXR alpha 3 may have regulatory effects on the function of LXR alpha 1. This study highlights the key role of LXR alpha alternative splicing in the post-transcriptional regulation of buffalo lactation.
C1 [Fan, Xinyang; Zhang, Yongyun; Qiu, Lihua; Zhu, Wei; Tu, Xingtiao; Miao, Yongwang] Yunnan Agr Univ, Fac Anim Sci & Technol, Kunming 650201, Yunnan, Peoples R China.
   [Zhang, Yongyun] Yunnan Agr Univ, Teaching Demonstrat Ctr Basic Expt Agr Majors, Kunming 650201, Yunnan, Peoples R China.
   [Zhu, Wei] Yunnan Agr Univ, Coll Vet Med, Kunming 650201, Yunnan, Peoples R China.
C3 Yunnan Agricultural University; Yunnan Agricultural University; Yunnan
   Agricultural University
RP Miao, YW (corresponding author), Yunnan Agr Univ, Fac Anim Sci & Technol, Kunming 650201, Yunnan, Peoples R China.
EM yongwangmiao1@126.com
RI cai, wen/JWP-4797-2024; Fan, Xinyang/AAT-1570-2021
OI zhu, zhu wei/0000-0001-7166-8428
FU National Natural Science Foundation of China [31460582, 31760659];
   Natural Science Foundation Key Project of Yunnan Province, China
   [2014FA032, 2007C0003Z]
FX This study was financially supported by the National Natural Science
   Foundation of China (Grant nos. 31460582 and 31760659) and the Natural
   Science Foundation Key Project of Yunnan Province, China (Grant nos.
   2014FA032 and 2007C0003Z).
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NR 40
TC 2
Z9 2
U1 1
U2 4
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD JUN 22
PY 2022
VL 12
IS 1
AR 10588
DI 10.1038/s41598-022-14771-0
PG 11
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA 2I2TN
UT WOS:000814836700099
PM 35732883
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Luethy, A
   Stenner, F
   Lohri, C
   Muller, C
   Samaras, P
   Steiner, R
   Van den Broek, M
   Mischo, A
   Renner, C
   Knuth, A
   Ruegg, C
   Wenger, RH
   Zweifel, M
AF Luethy, Anita
   Stenner, Frank
   Lohri, Corinne
   Muller, Christoph
   Samaras, Panagiotis
   Steiner, Rudolf
   Van den Broek, Maries
   Mischo, Axel
   Renner, Christoph
   Knuth, Alexander
   Ruegg, Curzio
   Wenger, Roland H.
   Zweifel, Martin
TI Autologous Stem Cell Transplantation: Leukapheresis Product has
   Anti-angiogenic Effects In Vivo Correlating with
   Neutrophil-derived VEGFR1
SO ANTICANCER RESEARCH
LA English
DT Article
DE Alternative splicing; angiogenesis; autologous stem cell
   transplantation; chick chorioallantoic membrane assay; high-dose
   chemotherapy; placental growth factor; vascular endothelial growth
   factor; VEGFR1
ID ENDOTHELIAL GROWTH-FACTOR; BONE-MARROW-TRANSPLANTATION; ACUTE
   MYOCARDIAL-INFARCTION; PERIPHERAL-BLOOD; PROGENITOR CELLS;
   MULTIPLE-MYELOMA; FACTOR RECEPTOR-1; TYROSINE KINASE; LIMB ISCHEMIA;
   THERAPEUTIC ANGIOGENESIS
AB Background: High-dose chemotherapy (HDC) followed by autologous stem cell transplantation (ASCT) is used for the treatment of hemato-oncologic malignancies. In this study, we measured the effect of HDC/ASCT on plasma concentrations of antiangiogenic soluble vascular endothelial growth factor receptor I (sVEGFR1) and of leukapheresis products (LP) and patient serum on chick chorioallantoic (CAM) angiogenesis. Materials and Methods: VEGFR1- and CD34-expressing cells of leukapheresis products were analyzed by flow cytometry. Alternatively spliced isoforms of VEGFR1 mRNA were quantified using reverse transcription PCR. Results: Plasma concentrations of sVEGFR1 decreased after HDC, but significantly increased after ASCT. In the CAM assay, sera of patients elicited a proangiogenic effect before and after HDC, but a strong antiangiogenic response after ASCT, comparable to that of bevacizumab at therapeutic concentrations. LP contains high concentrations of sVEGFR1, and high density of VEGFR1(+) neutrophilic granulocytes, in which mRNA expression is shifted toward the soluble VEGFR1 isoform. Conclusion: Neutrophil-derived antiangiogenic sVEGFR1 within the LP may contribute to the therapeutic efficacy of ASCT.
C1 [Luethy, Anita; Muller, Christoph; Wenger, Roland H.] Univ Zurich, Inst Physiol, Zurich, Switzerland.
   [Luethy, Anita; Muller, Christoph; Wenger, Roland H.] Univ Zurich, Zurich Ctr Integrat Human Physiol ZIHP, Zurich, Switzerland.
   [Stenner, Frank; Lohri, Corinne; Samaras, Panagiotis; Steiner, Rudolf; Van den Broek, Maries; Mischo, Axel; Renner, Christoph; Knuth, Alexander; Zweifel, Martin] Univ Zurich Hosp, Dept Oncol, CH-8091 Zurich, Switzerland.
   [Ruegg, Curzio] Univ Fribourg, Fac Sci, Dept Med, CH-1700 Fribourg, Switzerland.
C3 University of Zurich; University of Zurich; Zurich Center Integrative
   Human Physiology (ZIHP); University of Zurich; University Zurich
   Hospital; University of Fribourg
RP Luethy, A (corresponding author), Mt Vernon Canc Ctr, Northwood HA6 2RN, Middx, England.
EM martin.zweifel@doctors.org.uk
RI van den Broek, Maries/L-6532-2019; knuth, alexander/H-2608-2014; van den
   Broek, Maries/G-4128-2016; Wenger, Roland H./B-7953-2009
OI van den Broek, Maries/0000-0002-9489-3692; Wenger, Roland
   H./0000-0001-7592-4839; Stenner, Frank/0000-0003-4541-8817
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NR 46
TC 4
Z9 4
U1 0
U2 3
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
   ATHENS 19014, GREECE
SN 0250-7005
J9 ANTICANCER RES
JI Anticancer Res.
PD OCT
PY 2011
VL 31
IS 10
BP 3115
EP 3124
PG 10
WC Oncology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology
GA 830PA
UT WOS:000295667700001
PM 21965716
DA 2025-04-10
ER

PT J
AU Zhang, SX
   Bernstein, SI
AF Zhang, SX
   Bernstein, SI
TI Spatially and temporally regulated expression of myosin heavy chain
   alternative exons during Drosophila embryogenesis
SO MECHANISMS OF DEVELOPMENT
LA English
DT Article
DE alternative RNA splicing; Drosophila melanogaster; muscle; myogenesis;
   protein isoforms
ID ACTIN GENES; EMBRYONIC-DEVELOPMENT; INSITU HYBRIDIZATION; SUBFRAGMENT-2
   REGION; FUNCTIONAL DOMAINS; MESSENGER-RNAS; MUSCLE; MELANOGASTER;
   TRANSCRIPTS; ISOFORM
AB We used alternative exon-specific probes to determine the accumulation of transcripts encoding myosin heavy chain (MHC) isoforms in Drosophila melanogaster embryos. Six isoforms accumulate in body wall muscles. Transverse (external) muscles express a different major form than intermediate and internal muscles, suggesting different physiological properties. Cardioblasts express one of the somatic muscle transcripts: visceral muscles express at least two transcript types. The pharyngeal muscle accumulates a unique Mhc transcript, suggesting unique contractile abilities. Mhc transcription begins in stage 12 in visceral and somatic muscles, but as late as stage 15 in cardioblasts. This is the first study of myosin isoform localization during insect embryogenesis, and forms the basis for transgenic and biochemical experiments designed to determine how MHC domains regulate muscle physiology. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.
C1 San Diego State Univ, Dept Biol, San Diego, CA 92182 USA.
   San Diego State Univ, Inst Mol Biol, San Diego, CA 92182 USA.
C3 California State University System; San Diego State University;
   California State University System; San Diego State University
RP San Diego State Univ, Dept Biol, San Diego, CA 92182 USA.
EM sbernst@sunstroke.sdsu.edu
OI Bernstein, Sanford/0000-0001-7094-5390
FU NIAMS NIH HHS [AR43396] Funding Source: Medline; NIGMS NIH HHS [GM32443]
   Funding Source: Medline
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NR 52
TC 57
Z9 68
U1 0
U2 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0925-4773
EI 1872-6356
J9 MECH DEVELOP
JI Mech. Dev.
PD MAR
PY 2001
VL 101
IS 1-2
BP 35
EP 45
DI 10.1016/S0925-4773(00)00549-9
PG 11
WC Developmental Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Developmental Biology
GA 413LZ
UT WOS:000167614800004
PM 11231057
OA Bronze
DA 2025-04-10
ER

PT J
AU Maggi, L
   Carboni, N
   Bernasconi, P
AF Maggi, Lorenzo
   Carboni, Nicola
   Bernasconi, Pia
TI Skeletal Muscle Laminopathies: A Review of Clinical and Molecular
   Features
SO CELLS
LA English
DT Review
DE laminopathies; LMNA gene; cardiomyopathy; arrhythmia; limb-girdle
   muscular dystrophy; congenital muscular dystrophy; Emery-Dreifuss
   muscular dystrophy
ID LAMIN A/C GENE; DREIFUSS MUSCULAR-DYSTROPHY; CAUSE AUTOSOMAL-DOMINANT;
   CHARCOT-MARIE-TOOTH; DILATED CARDIOMYOPATHY; SUDDEN-DEATH; MISSENSE
   MUTATIONS; CONDUCTION-SYSTEM; NUCLEAR MECHANICS; LMNA-MUTATIONS
AB LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized by skeletal and cardiac muscle involvement. This review will focus on genetics and clinical features of laminopathies affecting primarily skeletal muscle. Although only symptomatic treatment is available for these patients, many achievements have been made in clarifying the pathogenesis and improving the management of these diseases.
C1 [Maggi, Lorenzo; Bernasconi, Pia] Fdn Ist Neurol Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Neurol 4, I-20133 Milan, Italy.
   [Carboni, Nicola] Hosp San Francesco Nuoro, Neurol Dept, I-08100 Nuoro, Italy.
C3 Fondazione IRCCS Istituto Neurologico Carlo Besta
RP Maggi, L (corresponding author), Fdn Ist Neurol Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Neurol 4, I-20133 Milan, Italy.
EM lorenzo.maggi@istituto-besta.it; nikola.carboni@tiscali.it;
   pia.bernasconi@istituto-besta.it
RI Maggi, Lorenzo/K-3578-2018
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NR 84
TC 65
Z9 72
U1 0
U2 6
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2073-4409
J9 CELLS-BASEL
JI Cells
PD SEP
PY 2016
VL 5
IS 3
AR 33
DI 10.3390/cells5030033
PG 14
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA FR0XH
UT WOS:000418786800005
PM 27529282
OA Green Submitted, Green Published, gold
DA 2025-04-10
ER

PT J
AU Ver Heyen, M
   Heymans, S
   Antoons, G
   Reed, T
   Periasamy, M
   Awede, B
   Lebacq, J
   Vangheluwe, P
   Dewerchin, M
   Collen, D
   Sipido, K
   Carmeliet, P
   Wuytack, F
AF Ver Heyen, M
   Heymans, S
   Antoons, G
   Reed, T
   Periasamy, M
   Awede, B
   Lebacq, J
   Vangheluwe, P
   Dewerchin, M
   Collen, D
   Sipido, K
   Carmeliet, P
   Wuytack, F
TI Replacement of the muscle-specific sarcoplasmic reticulum
   Ca<SUP>2+</SUP>-ATPase isoform SERCA2a by the nonmuscle SERCA2b
   homologue causes mild concentric hypertrophy and impairs
   contraction-relaxation of the heart
SO CIRCULATION RESEARCH
LA English
DT Article
DE Ca2+-transporting ATPase; alternative splicing; gene targeting;
   cardiovascular abnormalities; cardiomegaly
ID TRANSGENIC MICE; CARDIAC CONTRACTILITY; VENTRICULAR MYOCYTES;
   SMOOTH-MUSCLE; GENE; OVEREXPRESSION; EXPRESSION; FAILURE; PROTEINS
AB The cardiac sarco(endo)plasmic reticulum Ca2+-ATPase gene (ATP2A2) encodes the following two different protein isoforms: SERCA2a (muscle-specific) and SERCA2b (ubiquitous). We have investigated whether this isoform specificity is required for normal cardiac function. Gene targeting in mice successfully disrupted the splicing mechanism responsible for generating the SERCA2a isoform. Homozygous SERCA2a(-/-) mice displayed a complete loss of SERCA2a mRNA and protein resulting in a switch to the SERCA2b isoform. The expression of SERCA2b mRNA and protein in hearts of SERCA2a(-/-) mice corresponded to only 50% of wild-type SERCA2 levels. Cardiac phospholamban mRNA levels were unaltered in SERCA2a(-/-) mice, but total phospholamban protein levels increased 2-fold. The transgenic phenotype was characterized by a approximate to 20% increase in embryonic and neonatal mortality (early phenotype), with histopathologic evidence of major cardiac malformations. Adult SERCA2a(-/-) animals (adult phenotype) showed a reduced spontaneous nocturnal activity and developed a mild compensatory concentric cardiac hypertrophy with impaired cardiac contractility and relaxation. but preserved beta -adrenergic response. Ca2+ uptake levels in SERCA2a(-/-) cardiac homogenates were reduced by approximate to 50%. In isolated cells, relaxation and Ca2+ removal by the SR were significantly reduced. Comparison of our data with those obtained in mice expressing similar cardiac levels of SERCA2a instead of SERCA2b indicate the importance of the muscle-specific SERCA2a isoform for normal cardiac development and for the cardiac contraction-relaxation cycle.
C1 Katholieke Univ Leuven VIB, Dept Med, Physiol Lab, B-3000 Louvain, Belgium.
   Katholieke Univ Leuven VIB, Lab Cardiol, B-3000 Louvain, Belgium.
   Katholieke Univ Leuven VIB, Ctr Transgene Technol & Gene Therapy, B-3000 Louvain, Belgium.
   Genomatix USA, Cincinnati, OH USA.
   Ohio State Univ, Coll Med & Hlth Sci, Dept Physiol & Cell Biol, Columbus, OH 43210 USA.
   Catholic Univ Louvain, Dept Physiol, Brussels, Belgium.
C3 Flanders Institute for Biotechnology (VIB); KU Leuven; KU Leuven;
   Flanders Institute for Biotechnology (VIB); KU Leuven; Flanders
   Institute for Biotechnology (VIB); University System of Ohio; Ohio State
   University; Universite Catholique Louvain
RP Katholieke Univ Leuven VIB, Dept Med, Physiol Lab, Campus Gasthuisberg,Herestr 49, B-3000 Louvain, Belgium.
EM frank.wuytack@med.kuleuven.ac.be
RI Antoons, Gudrun/R-1220-2018; Reed, Thomas/IQR-7672-2023; Collen,
   Desire/M-8294-2016; Carmeliet, Peter/AAQ-5140-2020; Vangheluwe,
   Peter/P-5476-2017
OI Vangheluwe, Peter/0000-0002-7822-2944; Heymans,
   Stephane/0000-0001-9477-7803; Carmeliet, Peter/0000-0001-7961-1821;
   Periasamy, Muthu/0000-0001-8834-5975
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NR 25
TC 87
Z9 95
U1 3
U2 10
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0009-7330
EI 1524-4571
J9 CIRC RES
JI Circ.Res.
PD OCT 26
PY 2001
VL 89
IS 9
BP 838
EP 846
DI 10.1161/hh2101.098466
PG 9
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA 489CQ
UT WOS:000171974800016
PM 11679415
DA 2025-04-10
ER

PT J
AU Giladi, M
   Tal, I
   Khananshvili, D
AF Giladi, Moshe
   Tal, Inbal
   Khananshvili, Daniel
TI Structural Features of Ion Transport and Allosteric Regulation in
   Sodium-Calcium Exchanger (NCX) Proteins
SO FRONTIERS IN PHYSIOLOGY
LA English
DT Review
DE NCX; allosteric regulation; Ca2+ binding proteins; X-ray
   crystallography; HDX-MS; SAXS
ID ALTERNATIVELY SPLICED ISOFORMS; CARDIAC NA+-CA2+ EXCHANGER; 2ND
   CA2+-BINDING DOMAIN; NA+/CA2+ EXCHANGER; CA2+ REGULATION; CYTOPLASMIC
   CALCIUM; DYNAMIC PROPERTIES; CRYSTAL-STRUCTURES; BINDING DOMAINS; DRUG
   DISCOVERY
AB Na+/Ca2+ exchanger (NOX) proteins extrude Ca2+ from the cell to maintain cellular homeostasis. Since NCX proteins contribute to numerous physiological and pathophysiological events, their pharmacological targeting has been desired for a long time. This intervention remains challenging owing to our poor understanding of the underlying structure-dynamic mechanisms. Recent structural studies have shed light on the structure-function relationships underlying the ion-transport and allosteric regulation of NCX. The crystal structure of an archaeal NCX (NCX_Mj) along with molecular dynamics simulations and ion flux analyses, have assigned the ion binding sites for 3Na(+) and 1Ca(2+), which are being transported in separate steps. In contrast with NCX_Mj, eukaryotic NCXs contain the regulatory Ca2+-binding domains, CBD1 and CBD2, which affect the membrane embedded ion-transport domains over a distance of 80 A. The Ca2+-dependent regulation is ortholog, isoform, and splice-variant dependent to meet physiological requirements, exhibiting either a positive, negative, or no response to regulatory Ca2+. The crystal structures of the two-domain (CBD12) tandem have revealed a common mechanism involving a Ca2+-driven tethering of CBDs in diverse NCX variants. However, dissociation kinetics of occluded Ca2+ (entrapped at the two-domain interface) depends on the alternative-splicing segment (at CBD2), thereby representing splicing-dependent dynamic coupling of CBDs. The HDX-MS, SAXS, NMR, FRET, equilibrium Ca-45(2+) binding and stopped-flow techniques provided insights into the dynamic mechanisms of CBDs. Ca2+ binding to CBD1 results in a population shift, where more constraint conformational states become highly populated without global conformational changes in the alignment of CBDs. This mechanism is common among NCXs. Recent HDX-MS studies have demonstrated that the apo CBD1 and CBD2 are stabilized by interacting with each other, while Ca2+ binding to CBD1 rigidifies local backbone segments of CBD2, but not of CBD1. The extent and strength of Ca2+-dependent rigidification at CBD2 is splice-variant dependent, showing clear correlations with phenotypes of matching NCX variants. Therefore, diverse NCX variants share a common mechanism for the initial decoding of the regulatory signal upon Ca2+ binding at the interface of CBDs, whereas the allosteric message is shaped by CBD2, the dynamic features of which are dictated by the splicing segment.
C1 [Giladi, Moshe; Tal, Inbal; Khananshvili, Daniel] Tel Aviv Univ, Sackler Fac Med, Dept Physiol & Pharmacol, IL-69978 Tel Aviv, Israel.
C3 Tel Aviv University; Sackler Faculty of Medicine
RP Khananshvili, D (corresponding author), Tel Aviv Univ, Sackler Fac Med, Dept Physiol & Pharmacol, IL-69978 Tel Aviv, Israel.
EM dhanan@post.tau.ac.il
RI Giladi, Moshe/LMO-8378-2024
OI Khananshvili, Daniel/0000-0002-4202-9966; Giladi,
   Moshe/0000-0002-8589-6920
FU USA-Israel Binational Foundation Research Grant [2009-334]; Israel
   Science Foundation [825/14]; Fields Estate Foundation
FX This work was partially funded by the USA-Israel Binational Foundation
   Research Grant # 2009-334, and the Israel Science Foundation Grant
   #825/14. The support of the Fields Estate Foundation is highly
   appreciated.
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NR 65
TC 50
Z9 52
U1 0
U2 28
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
SN 1664-042X
J9 FRONT PHYSIOL
JI Front. Physiol.
PD FEB 9
PY 2016
VL 7
AR 30
DI 10.3359/fphys.7016.00030
PG 13
WC Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology
GA DD1FL
UT WOS:000369666600001
PM 26903880
DA 2025-04-10
ER

PT J
AU Zheng, XX
   Heaps, CL
   Fisher, SA
AF Zheng, Xiaoxu
   Heaps, Cristine L.
   Fisher, Steven A.
TI Myosin phosphatase isoforms and related transcripts in the pig coronary
   circulation and effects of exercise and chronic occlusion
SO MICROVASCULAR RESEARCH
LA English
DT Article
ID ARTERIAL SMOOTH-MUSCLE; ENDOTHELIUM-DEPENDENT DILATION; LIGHT-CHAIN
   PHOSPHATASE; BLOOD-FLOW; PROTEIN PHOSPHATASE; POTASSIUM CHANNELS; CA2+
   SENSITIZATION; HEART-FAILURE; HEAVY-CHAIN; EXPRESSION
AB Myosin phosphatase (MP) is a key target of signaling pathways that regulate smooth muscle tone and blood flow. Alternative splicing of MP targeting subunit (MYFTI) exon 24 (E24) generates isoforms with variable presence of a C-terminal leucine zipper (12) required for activation of MP by NO/cGMP. Here we examined the expression of MP and associated genes in a disease model in the coronary circulation. Female Yucatan miniature swine remained sedentary or were exercise-trained beginning eight weeks after placement of an ameroid constrictor around the left circumflex (LCX) artery. Fourteen weeks later epicardial arteries (-I mm) and resistance arterioles (similar to 125 mu m) were harvested and assayed for gene expression. MYPTI isoforms were distinct in the epicardial arteries (E24 /LZ+) and resistance arterioles (E24+/12) and unchanged by exercise training or coronary occlusion. MYPTI, CPI-17 and PDE5 mRNA levels were not different between arteries and arterioles while Kir2.1 and eNOS were 6.6-fold and 3.9-fold higher in the arterioles. There were no significant changes in transcript abundance in epicardial arteries of the collateralized (LCX) vs. non-occluded left anterior descending (IAD) territories, or in exercise-trained vs. sedentary pigs. There was a significant 1.2 fold increase in CPI-17 in collateraldependent arterioles, independent of exercise, and a significant 1.7 fold increase in PDE5 in arterioles from exercise-trained pigs, independent of occlusion. We conclude that differences in MYPTI E24 (12) isoforms, eNOS, and Kir2.1 distinguish epicardial arteries and resistance coronary arterioles. Up-regulation of coronary arteriolar PDE5 by exercise and CPI-17 by chronic occlusion could contribute to altered vasomotor responses and requires further study. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Zheng, Xiaoxu; Fisher, Steven A.] Univ Maryland, Sch Med, Div Cardiol, Baltimore, MD 21201 USA.
   [Heaps, Cristine L.] Texas A&M Univ, Dept Physiol & Pharmacol, Coll Vet Med & Biomed Sci, College Stn, TX 77843 USA.
C3 University System of Maryland; University of Maryland Baltimore; Texas
   A&M University System; Texas A&M University College Station
RP Fisher, SA (corresponding author), Univ Maryland, Sch Med, Div Cardiol, HSFII, S012c,20 Penn St, Baltimore, MD 21201 USA.
EM sfisher1@medicine.umaryland.edu
FU National Institutes of Health [R01-HL066171, R01-HL064931]
FX This work was supported by National Institutes of Health grants
   R01-HL066171 and R01-HL064931. We thank Dr. An Huang for providing cDNAs
   from rat mesenteric arteries.
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NR 53
TC 2
Z9 4
U1 0
U2 3
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0026-2862
EI 1095-9319
J9 MICROVASC RES
JI Microvasc. Res.
PD MAR
PY 2015
VL 98
BP 166
EP 171
DI 10.1016/j.mvr.2014.02.004
PG 6
WC Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA CD8FU
UT WOS:000351331400022
PM 24534069
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Ladd, AN
   Nguyen, NH
   Malhotra, K
   Cooper, TA
AF Ladd, AN
   Nguyen, NH
   Malhotra, K
   Cooper, TA
TI CELF6, a member of the CELF family of RNA-binding proteins, regulates
   muscle-specific splicing enhancer-dependent alternative splicing
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID MESSENGER-RNA; MYOTONIC-DYSTROPHY; MOLECULAR-BASIS; TRIPLET REPEAT;
   CANDIDATE GENE; CTG REPEAT; EXPRESSION; REGION; IDENTIFICATION;
   EXPANSION
AB We previously described a family of five RNA-binding proteins: CUG-binding protein, embryonic lethal abnormal vision-type RNA-binding protein 3, and the CUG-binding protein and embryonic lethal abnormal vision-type RNA-binding protein 3-like factors (CELFs) 3, 4, and 5. We demonstrated that all five of these proteins specifically activate exon inclusion of cardiac troponin T minigenes in vivo via muscle-specific splicing enhancer (MSE) sequences. We also predicted that a sixth family member, CELF6, was located on chromosome 15. Here, we describe the isolation and characterization of CELF6. Like the previously described CELF proteins, CELF6 shares a domain structure containing three RNA-binding domains and a divergent domain of unknown function. CELF6 is strongly expressed in kidney, brain, and testis and is expressed at very low levels in most other tissues. In the brain, expression is widespread and maintained from the fetus to the adult. CELF6 activates exon inclusion of a cardiac troponin T minigene in transient transfection assays in an MSE-dependent manner and can activate inclusion via multiple copies of a single element, MSE2. These results place CELF6 in a functional subfamily of CELF proteins that includes CELFs 3, 4, and 5. CELF6 also promotes skipping of exon 11 of insulin receptor, a known target of CELF activity that is expressed in kidney.
C1 Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA.
C3 Baylor College of Medicine
RP Baylor Coll Med, Dept Pathol, 1 Baylor Plaza,Rm 268B, Houston, TX 77030 USA.
EM tcooper@bcm.tmc.edu
OI Ladd, Andrea/0000-0003-4725-5644
FU NIAMS NIH HHS [AR45653] Funding Source: Medline
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NR 35
TC 75
Z9 92
U1 0
U2 9
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI ROCKVILLE
PA 11200 ROCKVILLE PIKE, SUITE 302, ROCKVILLE, MD, UNITED STATES
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD APR 23
PY 2004
VL 279
IS 17
BP 17756
EP 17764
DI 10.1074/jbc.M310687200
PG 9
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 812WU
UT WOS:000220870400107
PM 14761971
OA hybrid
DA 2025-04-10
ER

PT J
AU Herzig, S
   Khan, IFY
   Gründemann, D
   Matthes, J
   Ludwig, A
   Michels, G
   Hoppe, UC
   Chaudhuri, D
   Schwartz, A
   Yue, DT
   Hullin, R
AF Herzig, Stefan
   Khan, Ismail F. Y.
   Gruendemann, Dirk
   Matthes, Jan
   Ludwig, Andreas
   Michels, Guido
   Hoppe, Uta C.
   Chaudhuri, Dipayan
   Schwartz, Arnold
   Yue, David T.
   Hullin, Roger
TI Mechanism of Cav1.2 channel modulation by the amino terminus
   of cardiac β2-subunits
SO FASEB JOURNAL
LA English
DT Article
DE cardiac electrophysiology; calcium channel subunit; dihydropyridine
ID SENSITIVE CALCIUM-CHANNEL; GATED CA2+ CHANNELS; BETA-SUBUNIT; FUNCTIONAL
   EXPRESSION; HUMAN HEART; SUBCELLULAR-LOCALIZATION; SPLICE VARIANTS;
   DOMAIN; CLONING; BINDING
AB L- type calcium channels are composed of a pore, alpha(1c) ( Ca(v)1.2), and accessory beta- and alpha(2)delta-subunits. The beta(2)-subunit core structure was recently resolved at high resolution, providing important information on many functional aspects of channel modulation. In this study we reveal differential novel effects of five beta(2)-subunits isoforms expressed in human heart (beta(2a-e)) on the single L- type calcium channel current. These splice variants differ only by amino- terminal length and amino acid composition. Single- channel modulation by beta(2)-subunit isoforms was investigated in HEK293 cells expressing the recombinant L- type ion conducting pore. All beta(2)- subunits increased open probability, availability, and peak current with a highly consistent rank order (beta(2a) approximate to beta(2b) > beta(2e) approximate to beta(2c) > beta(2d)). We show graded modulation of some transition rates within and between deep- closed and inactivated states. The extent of modulation correlates strongly with the length of amino- terminal domains. Two mutant beta(2)-subunits that imitate the natural span related to length confirm this conclusion. The data show that the length of amino termini is a relevant physiological mechanism for channel closure and inactivation, and that natural alternative splicing exploits this principle for modulation of the gating properties of calcium channels.
C1 Univ Cologne, Dept Pharmacol, D-50931 Cologne, Germany.
   Univ Cologne, Ctr Mol Med, Cologne, Germany.
   Univ Erlangen Nurnberg, Inst Expt & Clin Pharmacol & Toxicol, Erlangen, Germany.
   Johns Hopkins Univ, Sch Med, Baltimore, MD USA.
   Univ Cincinnati, Inst Mol Pharmacol & Biophys, Cincinnati, OH USA.
   Univ Hosp, Swiss Heart Ctr Bern, Dept Cardiol, Bern, Switzerland.
C3 University of Cologne; University of Cologne; University of Erlangen
   Nuremberg; Johns Hopkins University; University System of Ohio;
   University of Cincinnati; University of Bern; University Hospital of
   Bern
RP Herzig, S (corresponding author), Univ Cologne, Dept Pharmacol, Gleueler Str 24, D-50931 Cologne, Germany.
EM stefan.herzig@uni-koeln.de
RI Matthes, Jan/AAF-1229-2020; Gründemann, Dirk/AAD-2217-2022
OI Herzig, Stefan/0000-0001-8107-5204; Chaudhuri,
   Dipayan/0000-0003-0605-7334; Matthes, Jan/0000-0003-2754-1555
FU NHLBI NIH HHS [T32 HL07382-30, R01 HL079599-01] Funding Source: Medline
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NR 46
TC 32
Z9 38
U1 0
U2 4
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
J9 FASEB J
JI Faseb J.
PD MAY
PY 2007
VL 21
IS 7
BP 1527
EP 1538
DI 10.1096/fj.06-7377com
PG 12
WC Biochemistry & Molecular Biology; Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
   Topics; Cell Biology
GA 162VG
UT WOS:000246117000027
PM 17289923
DA 2025-04-10
ER

PT J
AU Bonnas, C
   Wüstefeld, L
   Winkler, D
   Kronstein-Wiedemann, R
   Dere, E
   Specht, K
   Boxberg, M
   Tonn, T
   Ehrenreich, H
   Stadler, H
   Sillaber, I
AF Bonnas, Christel
   Wuestefeld, Liane
   Winkler, Daniela
   Kronstein-Wiedemann, Romy
   Dere, Ekrem
   Specht, Katja
   Boxberg, Melanie
   Tonn, Torsten
   Ehrenreich, Hannelore
   Stadler, Herbert
   Sillaber, Inge
TI EV-3, an endogenous human erythropoietin isoform with distinct
   functional relevance
SO SCIENTIFIC REPORTS
LA English
DT Article
ID RECOMBINANT-HUMAN-ERYTHROPOIETIN; GENE-EXPRESSION; SPLICE VARIANTS;
   MESSENGER-RNA; CEREBRAL-ISCHEMIA; CORTICAL-NEURONS; RECEPTOR; CELLS;
   HYPOXIA; LIVER
AB Generation of multiple mRNAs by alternative splicing is well known in the group of cytokines and has recently been reported for the human erythropoietin (EPO) gene. Here, we focus on the alternatively spliced EPO transcript characterized by deletion of exon 3 (hEPO Delta 3). We show co-regulation of EPO and hEPO Delta 3 in human diseased tissue. The expression of hEPO Delta 3 in various human samples was low under normal conditions, and distinctly increased in pathological states. Concomitant up-regulation of hEPO Delta 3 and EPO in response to hypoxic conditions was also observed in HepG2 cell cultures. Using LC-ESI-MS/MS, we provide first evidence for the existence of hEPO Delta 3 derived protein EV-3 in human serum from healthy donors. Contrary to EPO, recombinant EV-3 did not promote early erythroid progenitors in cultures of human CD34+ haematopoietic stem cells. Repeated intraperitoneal administration of EV-3 in mice did not affect the haematocrit. Similar to EPO, EV-3 acted anti-apoptotic in rat hippocampal neurons exposed to oxygen-glucose deprivation. Employing the touch-screen paradigm of long-term visual discrimination learning, we obtained first in vivo evidence of beneficial effects of EV-3 on cognition. This is the first report on the presence of a naturally occurring EPO protein isoform in human serum sharing non-erythropoietic functions with EPO.
C1 [Bonnas, Christel; Stadler, Herbert; Sillaber, Inge] Epomedics GmbH, Gottingen, Germany.
   [Wuestefeld, Liane; Winkler, Daniela; Dere, Ekrem; Ehrenreich, Hannelore] Max Planck Inst Expt Med, Clin Neurosci, Gottingen, Germany.
   [Wuestefeld, Liane; Winkler, Daniela; Dere, Ekrem; Ehrenreich, Hannelore] DFG Res Ctr Nanoscale Microscopy & Mol Physiol Br, Gottingen, Germany.
   [Kronstein-Wiedemann, Romy; Tonn, Torsten] German Red Cross Blood Donor Serv North East, Inst Transfus Med, Dresden, Germany.
   [Specht, Katja; Boxberg, Melanie] Tech Univ Munich, Inst Pathol, Munich, Germany.
   [Tonn, Torsten] Tech Univ Desden, Med Fac Carl Gustav Carus, Dept Expt Transfus Med, Dresden, Germany.
C3 Max Planck Society; Technical University of Munich; Technische
   Universitat Dresden; Carl Gustav Carus University Hospital
RP Bonnas, C (corresponding author), Epomedics GmbH, Gottingen, Germany.
EM christel.bonnas@epomedics.com
RI Ehrenreich, Hannelore/AAS-6079-2020; Dere, Ekrem/Y-3872-2019; Dere,
   Ekrem/F-3879-2018
OI Ehrenreich, Hannelore/0000-0001-8371-5711; Dere,
   Ekrem/0000-0001-7823-7778
FU German BMBF [0316160B]; Max Planck Society; Max Planck Forderstiftung;
   DFG (CNMPB)
FX We like to thank Dennis Niermeier, Dr. Uwe Carl, Dr. Christos Gouloudis,
   Kristian Stanar (all IBA GmbH - solutions for life sciences), Thomas
   Pohl (Epomedics) and the employees from TopLab for profound discussions
   and support. Further, we are grateful to Dr. Ronny Milde for critically
   reading the manuscript. Work performed at Epomedics was partially funded
   by a grant from the German BMBF (code 0316160B). Epomedics provided
   material to collaborating institutes, otherwise no financing was
   provided by Epomedics. Further, Epomedics was without influence on
   conduct or data analysis of experiments of collaborating institutes.
   H.E., L.W., E.D. and D.W. are supported by the Max Planck Society, the
   Max Planck Forderstiftung, and the DFG (CNMPB).
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NR 86
TC 14
Z9 14
U1 0
U2 4
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD JUN 16
PY 2017
VL 7
AR 3684
DI 10.1038/s41598-017-03167-0
PG 15
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA EX7FN
UT WOS:000403413700046
PM 28623280
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Rebs, S
   Sedaghat-Hamedani, F
   Kayvanpour, E
   Meder, B
   Streckfuss-Bömeke, K
AF Rebs, Sabine
   Sedaghat-Hamedani, Farbod
   Kayvanpour, Elham
   Meder, Benjamin
   Streckfuss-Bomeke, Katrin
TI Generation of pluripotent stem cell lines and CRISPR/Cas9 modified
   isogenic controls from a patient with dilated cardiomyopathy harboring a
   RBM20 p.R634W mutation
SO STEM CELL RESEARCH
LA English
DT Article
AB RNA binding motif protein 20 (RBM20) is an alternative splicing factor and highly expressed in cardiac tissue. Mutations in the RS domain of RBM20 have been shown to cause different cardiomyopathies. Here, we generated induced pluripotent stem cells (iPSCs) from a dilated cardiomyopathy patient harboring the heterozygous RBM20 mutation p.R634W and consecutively produced isogenic control line using CRISPR/Cas9 genome editing. Patient-specific RBM20 iPSCs and isogenic control line maintained full pluripotency, genomic integrity, and in vitro differentiation capacity. All iPSC-lines were able to differentiate into pure cardiomyocytes, thus providing a valuable tool for studying the pathogenesis of human RBM20-mediated cardiac disease.
C1 [Rebs, Sabine; Streckfuss-Bomeke, Katrin] Univ Med Ctr Gottingen, Clin Cardiol & Pneumol, Gottingen, Germany.
   [Rebs, Sabine; Sedaghat-Hamedani, Farbod; Kayvanpour, Elham; Meder, Benjamin; Streckfuss-Bomeke, Katrin] German Ctr Cardiovasc Res DZHK, Greifswald, Germany.
   [Sedaghat-Hamedani, Farbod; Kayvanpour, Elham; Meder, Benjamin] Univ Med Ctr Heidelberg, Dept Cardiol Angiol & Pneumol, Heidelberg, Germany.
   [Meder, Benjamin] Stanford Genome Technol Ctr, Dept Genet, Stanford, CA USA.
C3 University of Gottingen; UNIVERSITY GOTTINGEN HOSPITAL; German Centre
   for Cardiovascular Research; Ruprecht Karls University Heidelberg;
   Stanford University
RP Streckfuss-Bömeke, K (corresponding author), Univ Med Ctr Gottingen, Clin Cardiol & Pneumol, Gottingen, Germany.
EM katrin.streckfuss@med.uni-goettingen.de
RI Streckfuß-Bömeke, Katrin/H-1375-2016
OI Rebs, Sabine/0000-0002-9504-0261
FU German Center for Cardiovascular Research (DZHK); Bundesministerium fur
   Bildung und Forschung (BMBF) grant e:Bio - Modul II -Verbundprojekt:
   CaRNAtion; Heidenreich von Siebold Program from the University Medical
   Center Gottingen
FX The authors thank Johanna Heine, Sandra Georgi, and Yvonne Metz for
   excellent technical assistance; anybody who helped in taking skin punch
   biopsies from the DCM patient. This work was supported by the German
   Center for Cardiovascular Research (DZHK) [to KSB and BM], the
   Bundesministerium fur Bildung und Forschung (BMBF) grant e:Bio - Modul
   II -Verbundprojekt: CaRNAtion [to KSB and BM] and the Heidenreich von
   Siebold Program from the University Medical Center Gottingen [to KSB].
CR Borchert T, 2017, J AM COLL CARDIOL, V70, P975, DOI 10.1016/j.jacc.2017.06.061
   Guo W, 2012, NAT MED, V18, P766, DOI 10.1038/nm.2693
   Li DX, 2010, CTS-CLIN TRANSL SCI, V3, P90, DOI 10.1111/j.1752-8062.2010.00198.x
   Sedaghat-Hamedani F, 2017, EUR HEART J, V38, P3449, DOI 10.1093/eurheartj/ehx545
   Streckfuss-Bömeke K, 2017, J MOL CELL CARDIOL, V113, P9, DOI 10.1016/j.yjmcc.2017.09.008
NR 5
TC 9
Z9 10
U1 0
U2 1
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 1873-5061
EI 1876-7753
J9 STEM CELL RES
JI Stem Cell Res.
PD AUG
PY 2020
VL 47
AR 101901
DI 10.1016/j.scr.2020.101901
PG 5
WC Cell & Tissue Engineering; Biotechnology & Applied Microbiology; Cell
   Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Biotechnology & Applied Microbiology
GA NK5NS
UT WOS:000566779600010
PM 32674065
OA gold
DA 2025-04-10
ER

PT J
AU Qi, C
   Feng, I
   Costa, AR
   Pinto-Costa, R
   Neil, JE
   Caluseriu, O
   Li, D
   Ganetzky, RD
   Brasch-Andersen, C
   Fagerberg, C
   Hansen, LK
   Bupp, C
   Muraresku, CC
   Ruan, XB
   Kang, BW
   Hu, KN
   Zhong, R
   Brites, P
   Bhoj, EJ
   Hill, RS
   Falk, MJ
   Hakonarson, H
   Kahle, KT
   Sousa, MM
   Walsh, CA
   Zhang, XC
AF Qi, Cai
   Feng, Irena
   Costa, Ana Rita
   Pinto-Costa, Rita
   Neil, Jennifer E.
   Caluseriu, Oana
   Li, Dong
   Ganetzky, Rebecca D.
   Brasch-Andersen, Charlotte
   Fagerberg, Christina
   Hansen, Lars Kjaersgaard
   Bupp, Caleb
   Muraresku, Colleen Clarke
   Ruan, Xiangbin
   Kang, Bowei
   Hu, Kaining
   Zhong, Rong
   Brites, Pedro
   Bhoj, Elizabeth J.
   Hill, Robert Sean
   Falk, Marni J.
   Hakonarson, Hakon
   Kahle, Kristopher T.
   Sousa, Monica M.
   Walsh, Christopher A.
   Zhang, Xiaochang
TI Variants in ADD1 cause intellectual disability, corpus callosum
   dysgenesis, and ventriculomegaly in humans
SO GENETICS IN MEDICINE
LA English
DT Article
DE Adducin; Alternative splicing; Axon degeneration; Membrane-associated
   periodic; ring-like structure (MPS)
ID ALPHA-ADDUCIN; SCALE ORGANIZATION; BETA-ADDUCIN; SPECTRIN; ACTIN;
   AGENESIS; PROTEIN; DOMAIN; MEMORY; MOUSE
AB Purpose: Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown.
   Methods: We used exome sequencing to uncover ADD1 variants associated with intellectual disability (ID) and brain malformations. We studied ADD1 splice isoforms in mouse and human neocortex development with RNA sequencing, super resolution imaging, and immunoblotting. We investigated 4 variant ADD1 proteins and heterozygous ADD1 cells for protein expression and ADD1-ADD2 dimerization. We studied Add1 functions in vivo using Add1 knockout mice.
   Results: We uncovered loss-of-function ADD1 variants in 4 unrelated individuals affected by ID and/or structural brain defects. Three additional de novo copy number variations covering the ADD1 locus were associated with ID and brain malformations. ADD1 is highly expressed in the neocortex and the corpus callosum, whereas ADD1 splice isoforms are dynamically expressed between cortical progenitors and postmitotic neurons. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes.
   Conclusion: Our human and mouse genetics results indicate that pathogenic ADD1 variants cause corpus callosum dysgenesis, ventriculomegaly, and/or ID. (C) 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
C1 [Qi, Cai; Feng, Irena; Ruan, Xiangbin; Kang, Bowei; Hu, Kaining; Zhong, Rong; Zhang, Xiaochang] Univ Chicago, Dept Human Genet, 920 E 58 St CLSC Room 507A, Chicago, IL 60637 USA.
   [Costa, Ana Rita; Pinto-Costa, Rita; Sousa, Monica M.] Univ Porto, Inst Biol Mol & Celular IBMC, Nerve Regenerat Grp, Porto, Portugal.
   [Costa, Ana Rita; Pinto-Costa, Rita; Sousa, Monica M.] Univ Porto, Inst Inovacao & Invest Saude, Porto, Portugal.
   [Neil, Jennifer E.; Hill, Robert Sean; Walsh, Christopher A.] Harvard Med Sch, Div Genet & Genom, Boston, MA 02115 USA.
   [Neil, Jennifer E.; Hill, Robert Sean; Walsh, Christopher A.] Harvard Med Sch, Boston Childrens Hosp, Howard Hughes Med Inst, Dept Pediat, Boston, MA 02115 USA.
   [Neil, Jennifer E.; Hill, Robert Sean; Walsh, Christopher A.] Harvard Med Sch, Boston Childrens Hosp, Howard Hughes Med Inst, Dept Neurol, Boston, MA 02115 USA.
   [Caluseriu, Oana] Univ Alberta, Fac Med & Dent, Dept Med Genet, Edmonton, AB, Canada.
   [Li, Dong; Bhoj, Elizabeth J.; Hakonarson, Hakon] Childrens Hosp Philadelphia, Joseph Stokes Jr Res Inst, Ctr Appl Genom, Philadelphia, PA 19104 USA.
   [Ganetzky, Rebecca D.; Muraresku, Colleen Clarke; Falk, Marni J.] Childrens Hosp Philadelphia, Div Human Genet, Mitochondrial Med Frontier Program, Philadelphia, PA 19104 USA.
   [Ganetzky, Rebecca D.; Muraresku, Colleen Clarke; Falk, Marni J.; Hakonarson, Hakon] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA.
   [Brasch-Andersen, Charlotte; Fagerberg, Christina; Hansen, Lars Kjaersgaard] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark.
   [Bupp, Caleb] Helen DeVos Childrens Hosp, Med Genet, Grand Rapids, MI USA.
   [Brites, Pedro] Univ Porto, Inst Inovacao & Invest Saude, Neurolipid Biol, Porto, Portugal.
   [Brites, Pedro] Univ Porto, Inst Biol Mol & Celular IBMC, Porto, Portugal.
   [Kahle, Kristopher T.] Yale Sch Med, Dept Neurosurg, New Haven, CT USA.
   [Kahle, Kristopher T.] Yale Sch Med, Dept Pediat, New Haven, CT USA.
   [Kahle, Kristopher T.] Yale Sch Med, Dept Cellular & Mol Physiol, New Haven, CT USA.
   [Zhang, Xiaochang] Univ Chicago, Neurosci Inst, Chicago, IL 60637 USA.
C3 University of Chicago; Universidade do Porto; Universidade do Porto; i3S
   - Instituto de Investigacao e Inovacao em Saude, Universidade do Porto;
   Harvard University; Harvard Medical School; Harvard University; Harvard
   University Medical Affiliates; Boston Children's Hospital; Howard Hughes
   Medical Institute; Harvard Medical School; Howard Hughes Medical
   Institute; Harvard University; Harvard Medical School; Harvard
   University Medical Affiliates; Boston Children's Hospital; University of
   Alberta; University of Pennsylvania; Pennsylvania Medicine; Childrens
   Hospital of Philadelphia; University of Pennsylvania; Pennsylvania
   Medicine; Childrens Hospital of Philadelphia; University of
   Pennsylvania; Pennsylvania Medicine; Childrens Hospital of Philadelphia;
   University of Southern Denmark; Odense University Hospital; Universidade
   do Porto; i3S - Instituto de Investigacao e Inovacao em Saude,
   Universidade do Porto; Universidade do Porto; Yale University; Yale
   University; Yale University; University of Chicago
RP Sousa, MM (corresponding author), Univ Porto, Nerve Regenerat Grp, Rua Alfredo Allen 208, P-4200135 Porto, Portugal.; Walsh, CA (corresponding author), Boston Childrens Hosp, 15th Floor,3 Blackfan Circle, Boston, MA 02115 USA.; Walsh, CA (corresponding author), Harvard Med Sch, Ctr Life Sci, 15th Floor,3 Blackfan Circle, Boston, MA 02115 USA.; Zhang, XC (corresponding author), Univ Chicago, Grossman Inst Neurosci, 920 E 58 St CLSC Room 507A, Chicago, IL 60637 USA.; Zhang, XC (corresponding author), Univ Chicago, Dept Human Genet, 920 E 58 St CLSC Room 507A, Chicago, IL 60637 USA.
EM msousa@ibmc.up.pt; christopher.walsh@childrens.harvard.edu;
   xczhang@uchicago.edu
RI Sousa, Monica/K-4367-2013; Costa, Rita/HZL-6584-2023; Kang,
   Bowei/LTE-3206-2024; Falk, Marni/K-1997-2014; Ruan,
   Xiangbin/A-7239-2013; Hu, Kaining/ABE-4741-2020; Zhong,
   Rong/HSA-9353-2023; Pinto-Costa, Rita/AAI-1745-2020; Hakonarson,
   Hakon/ABZ-4865-2022; Walsh, Christopher/W-4684-2017; Zhang,
   Xiaochang/G-4857-2014; Brites, Pedro/K-4231-2013
OI Kang, Bowei/0000-0001-9093-359X; Hu, Kaining/0000-0002-3341-2621; Walsh,
   Christopher/0000-0002-0156-2238; Zhang, Xiaochang/0000-0001-5768-7470;
   Feng, Irena/0000-0001-7740-9793; Fagerberg, Christina
   Ringmann/0000-0002-5206-4327; Costa, Rita/0000-0002-4920-4739; Brites,
   Pedro/0000-0003-1754-1543
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NR 40
TC 5
Z9 6
U1 1
U2 5
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA STE 800, 230 PARK AVE, NEW YORK, NY 10169 USA
SN 1098-3600
EI 1530-0366
J9 GENET MED
JI Genet. Med.
PD FEB
PY 2022
VL 24
IS 2
BP 319
EP 331
DI 10.1016/j.gim.2021.09.014
EA JAN 2022
PG 13
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 1J0DV
UT WOS:000797597400006
PM 34906466
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Leu, S
AF Leu, Steve
TI The role and regulation of Pnn in proliferative and non-dividing cells:
   Form embryogenesis to pathogenesis
SO BIOCHEMICAL PHARMACOLOGY
LA English
DT Review
DE Pnn; Pinin; Embryogenesis; Pathogenesis
ID FAMILY SPLICING FACTORS; E-CADHERIN; COREPRESSOR CTBP; BINDING-PROTEINS;
   NUCLEAR-PROTEIN; GENE-EXPRESSION; DUAL LOCATION; IN-VIVO; PININ; COMPLEX
AB Pnn, a multiple functional protein, plays roles in embryonic development, cellular differentiation, tumorigenesis, and metastasis. In the past two decades, the functions of Pnn in regulating RNA alternative splicing, gene regulation, and cell-cell connection have been revealed. Although Pnn is originally identified as a desmosomeassociated protein for linking desmosome and intermediated filament, emerging evidence implies that Pnn not only is a desmosome protein but also plays critical roles in the nucleus. To date, through cell biology investigation and the generation of animal models with genetic manipulation, the physiological role of Pnn has been characterized in the research fields of developmental biology, tumor biology, and neuroscience. Through proteomic and molecular biology studies, transcription regulators, splicing regulators, and cytoskeletal proteins were found to interact with Pnn. In addition, histopathological and biochemical evidence has pointed to an association of Pnn expression level with tumorigenesis and metastasis. A previous clinical study also demonstrated a correlation between a reduced expression of Pnn and human dementia. Besides, experimental studies showed a protective role of Pnn against ischemic stress in astrocytes. All indicated a variety of roles of Pnn in different cell types. In this review article, we introduced the role of Pnn in embryogenesis and pathogenesis as well as discussed its potential clinical application.
C1 [Leu, Steve] Kaohsiung Chang Gung Mem Hosp, Inst Translat Res Biomed, 123 Dapi Rd, Kaohsiung 83301, Taiwan.
   [Leu, Steve] Kaohsiung Med Univ, Dept Biotechnol, Coll Life Sci, Kaohsiung, Taiwan.
C3 Chang Gung Memorial Hospital; Kaohsiung Medical University
RP Leu, S (corresponding author), Kaohsiung Chang Gung Mem Hosp, Inst Translat Res Biomed, 123 Dapi Rd, Kaohsiung 83301, Taiwan.
EM leu@mail.cgu.edu.tw
FU Chang Gung Medical Research Program Grant [CMRPG 8J1181-2]; Ministry of
   Science and Technology, Taiwan [MOST 109-2320-B-182A-009]
FX This study was supported by the Chang Gung Medical Research Program
   Grant (Grant number: CMRPG 8J1181-2) and the Ministry of Science and
   Technology, Taiwan (MOST 109-2320-B-182A-009). The author would like to
   thank Prof. Lawrence C. K. Sun for his help in English editing of the
   manuscript.
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NR 60
TC 5
Z9 7
U1 3
U2 8
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0006-2952
EI 1873-2968
J9 BIOCHEM PHARMACOL
JI Biochem. Pharmacol.
PD OCT
PY 2021
VL 192
AR 114672
DI 10.1016/j.bcp.2021.114672
EA JUL 2021
PG 7
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA US9US
UT WOS:000697771600014
PM 34237338
DA 2025-04-10
ER

PT J
AU Santama, N
   Benjamin, PR
AF Santama, N
   Benjamin, PR
TI Gene expression and function of FMRFamide-related neuropeptides in the
   snail Lymnaea
SO MICROSCOPY RESEARCH AND TECHNIQUE
LA English
DT Article
DE FMRFamide; Lymnaea; neuropeptides
ID VENTRICULAR MUSCLE-CELLS; PHE-MET-ARG-PHE-NH2 FMRFAMIDE;
   CAENORHABDITIS-ELEGANS; PEPTIDES; STAGNALIS; HEART; IDENTIFICATION;
   TRANSCRIPTS; BRAIN; GDPFLRFAMIDE
AB FMRFamide and a large family of related peptides (FaRPs) have been identified in every major metazoan phylum examined, including chordates. In the pulmonate snail Lymnaea this family of neuropeptides is encoded by a five-exon locus that is subject to alternative splicing. The two alternative mRNA transcripts are expressed in the CNS in a mutually exclusive manner at the single cell level, resulting in the differential distribution of the distinct sets of FaRPs that they encode in defined neuronal networks. Biochemical peptide purification, single-cell analysis by mass spectroscopy, and immunocytochemistry have led to an understanding of the post-translational processing patterns of the two alternative precursor proteins and identified at least 12 known and novel peptides contained in neuronal networks involved in cardiorespiration, penial control and withdrawal response. The pharmacological actions of single or co-expressed peptides are beginning to emerge for the cardiorespiratory network and its central and peripheral targets. Peptides derived from protein precursor 1 and contained in the heart excitatory central motoneurons E-he have distinct functions and also act in concert in cardiac regulation, based on their unique effects on heartbeat and their differential stimulatory effects on second messenger pathways. Precursor-2 derived peptides, contained in the Visceral White Interneuron, a key neuron of the cardiorespiratory network, have mostly inhibitory effects on the VWI's central postsynaptic target neurons but with some of the peptides also exhibiting excitatory effects on the same cells. (C) 2000 Wiley-Liss, Inc.
C1 Univ Cyprus, CY-1678 Nicosia, Cyprus.
   Cyprus Inst Neurol & Genet, CY-1678 Nicosia, Cyprus.
   Univ Sussex, Sch Biol Sci, Sussex Ctr Neurosci, Brighton BN1 9QG, E Sussex, England.
C3 University of Cyprus; Cyprus Institute of Neurology & Genetics;
   University of Sussex
RP Santama, N (corresponding author), Univ Cyprus, POB 20537, CY-1678 Nicosia, Cyprus.
EM santama@ucy.ac.cy; P.R.Benjamin@sussex.ac.uk
RI Santama, Niovi/GLR-7648-2022
OI Santama, Niovi/0000-0002-8370-8674
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NR 44
TC 47
Z9 48
U1 0
U2 6
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1059-910X
EI 1097-0029
J9 MICROSC RES TECHNIQ
JI Microsc. Res. Tech.
PD JUN 15
PY 2000
VL 49
IS 6
BP 547
EP 556
DI 10.1002/1097-0029(20000615)49:6<547::AID-JEMT5>3.0.CO;2-Y
PG 10
WC Anatomy & Morphology; Biology; Microscopy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Anatomy & Morphology; Life Sciences & Biomedicine - Other Topics;
   Microscopy
GA 326LK
UT WOS:000087736900005
PM 10862111
DA 2025-04-10
ER

PT J
AU Frisch, RN
   Curtis, KM
   Aenlle, KK
   Howard, GA
AF Frisch, Rachel N.
   Curtis, Kevin M.
   Aenlle, Kristina K.
   Howard, Guy A.
TI Hepatocyte growth factor and alternative splice variants - expression,
   regulation and implications in osteogenesis and bone health and repair
SO EXPERT OPINION ON THERAPEUTIC TARGETS
LA English
DT Review
DE Hepatocyte Growth Factor; HGF; Bone; Osteoblastic Differentiation;
   Osteoblasts; Osteoclasts; cMET
ID CRITICAL LIMB ISCHEMIA; HGF/MET SIGNALING PATHWAY; MESENCHYMAL
   STEM-CELLS; FACTOR-ENCODING GENE; NF-KAPPA-B; FACTOR/SCATTER FACTOR;
   SCATTER FACTOR; SKELETAL-MUSCLE; FACTOR PLASMID; MET RECEPTOR
AB Introduction: Bone marrow-derived mesenchymal stem cells (MSCs) can differentiate into multiple cell types, including osteoblasts, chondrocytes, and adipocytes. These pluripotent cells secrete hepatocyte growth factor (HGF), which regulates cell growth, survival, motility, migration, mitogenesis and is important for tissue development/regeneration. HGF has four splice variants, NK1, NK2, NK3, and NK4 which have varying functions and affinities for the HGF receptor, cMET. HGF promotes osteoblastic differentiation of MSCs into bone forming cells, playing a role in bone development, health and repair.
   Areas Covered: This review will focus on the effects of HGF in osteogenesis, bone repair and bone health, including structural and functional insights into the role of HGF in the body.
   Expert Opinion: Approximately 6.2 million Americans experience a fracture annually, with 5-10% being mal-or non-union fractures. HGF is important in priming MSCs for osteogenic differentiation in vitro and is currently being studied to assess its role during bone repair in vivo. Due to the high turnover rate of systemic HGF, non-classic modes of HGF-treatment, including naked-plasmid HGF delivery and the use of HGF splice variants (NK1 & NK2) are being studied to find safe and efficacious treatments for bone disorders, such as mal-or non-union fractures.
C1 [Frisch, Rachel N.; Curtis, Kevin M.; Aenlle, Kristina K.; Howard, Guy A.] Bruce W Carter Vet Affairs Med Ctr, Geriatr Res Educ & Clin Ctr, Miami, FL 33125 USA.
   [Frisch, Rachel N.; Curtis, Kevin M.; Aenlle, Kristina K.; Howard, Guy A.] Bruce W Carter Vet Affairs Med Ctr, Res Serv, Miami, FL 33125 USA.
   [Curtis, Kevin M.; Howard, Guy A.] Univ Miami, Miller Sch Med, Biochem & Mol Biol, Miami, FL 33136 USA.
   [Howard, Guy A.] Univ Miami, Miller Sch Med, Med, Miami, FL 33136 USA.
C3 Geriatric Research Education & Clinical Center; University of Miami;
   University of Miami
RP Curtis, KM; Howard, GA (corresponding author), Bruce W Carter Vet Affairs Med Ctr, Geriatr Res Educ & Clin Ctr, Miami, FL 33125 USA.; Curtis, KM; Howard, GA (corresponding author), Bruce W Carter Vet Affairs Med Ctr, Res Serv, Miami, FL 33125 USA.
EM kevinmcurtis@gmail.com; ghoward1@med.miami.edu
RI Howard, Guy/KEI-5998-2024; Curtis, Kevin/B-8020-2011
FU National Institute of Health/National Institute of Arthritis and
   Musculoskeletal Diseases [5F32AR062990-04]; Miami VA Medical Center,
   University of Miami School of Medicine; NIH/NIAMS [5F32AR062990-04];
   veterans affairs career scientist award; veterans affairs merit review
   grant
FX The authors were supported by National Institute of Health/National
   Institute of Arthritis and Musculoskeletal Diseases (GRANT #
   5F32AR062990-04), Miami VA Medical Center, University of Miami School of
   Medicine. KM Curtis is a postdoctoral fellow funded in part by NIH/NIAMS
   F32 Postdoctoral Grant # 5F32AR062990-04. GA Howard is funded in part
   through veterans affairs career scientist award and veterans affairs
   merit review grant. The authors have no other relevant affiliations or
   financial involvement with any organization or entity with a financial
   interest in or financial conflict with the subject matter or materials
   discussed in the manuscript apart from those disclosed.
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NR 86
TC 19
Z9 23
U1 0
U2 17
PU TAYLOR & FRANCIS LTD
PI ABINGDON
PA 2-4 PARK SQUARE, MILTON PARK, ABINGDON OR14 4RN, OXON, ENGLAND
SN 1472-8222
EI 1744-7631
J9 EXPERT OPIN THER TAR
JI Expert Opin. Ther. Targets
PY 2016
VL 20
IS 9
BP 1087
EP 1098
DI 10.1517/14728222.2016.1162293
PG 12
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA DU1BR
UT WOS:000381941500006
PM 26941128
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Osaki, T
   Souri, M
   Song, YS
   Izumi, N
   Law, R
   Ichinose, A
AF Osaki, Tsukasa
   Souri, Masayoshi
   Song, Young-seok
   Izumi, Naohiro
   Law, Ruby
   Ichinose, Akitada
TI Molecular pathogenesis of plasminogen Hakodate: the second Japanese
   family case of severe type I plasminogen deficiency manifested
   late-onset multi-organic chronic pseudomembranous mucositis
SO JOURNAL OF THROMBOSIS AND THROMBOLYSIS
LA English
DT Article
DE Plasminogen deficiency; Ligneous conjunctivitis; Systemic
   pseudomembranous mucositis; Splicing defect; Missense mutation;
   Defective fibrinolysis
ID 3 ASIAN POPULATIONS; LIGNEOUS CONJUNCTIVITIS; CRYSTAL-STRUCTURE; GENE;
   SUBUNIT; PLASMA; SYSTEM; SERIES
AB A 64-year-old man first developed ligneous conjunctivitis at the age of 58 years after right pulmonary resection because of suspected cancer; otherwise, he had been healthy. Since then, he began to suffer from various forms of chronic pseudomembranous mucositis. Laboratory tests demonstrated that he had 7.8 % of plasminogen activity and 5.9 % of the normal antigen level. Thus, he was diagnosed as having severe type I plasminogen deficiency, making him the third case in Japan. DNA sequencing and PCR-restriction fragment length polymorphism analyses revealed that this patient was a compound heterozygote of a G-to-A missense mutation (G266E) in exon VIII and a g-to-a mutation at the obligatory splicing acceptor site in intron 12 (IVS12-1g > a). These two mutations were confirmed to be novel. Molecular modeling and splice site strength calculation predicted conformational disorder(s) for the Glu266 mutant and a drastic decrease in splicing efficiency for intron 12, respectively. Western blot analysis demonstrated that the patient contained a small amount of the normal-sized plasminogen protein. Mass spectrometric analysis of the patient's plasminogen revealed a peptide containing the wild-type Gly266 residue and no peptides with mutations at Glu266. However, he had never suffered from thrombosis. Low levels of fibrinogen/fibrin degradation products (FDP), D-dimer, and plasmin-alpha(2)-plasmin inhibitor complex clearly indicated a hypo-fibrinolytic condition. However, his plasma concentration of elastase-digested crosslinked FDPs was 4.8 U/mL, suggesting the presence of an on-going plasmin(ogen)-independent "alternative" fibrinolytic system, which may protect the patient from thrombosis. The patient has been free from recurrence of ligneous conjunctivitis for approximately 2.5 years.
C1 [Osaki, Tsukasa; Souri, Masayoshi; Ichinose, Akitada] Yamagata Univ, Sch Med, Dept Mol Pathobiochem & Pathobiol, Iida Nishi 2-2-2, Yamagata 9909585, Japan.
   [Song, Young-seok; Izumi, Naohiro] Goryokaku Hosp, Dept Ophthalmol, Hakodate, Hokkaido, Japan.
   [Law, Ruby] Monash Univ, Dept Biochem & Mol Biol, Melbourne, Vic 3800, Australia.
C3 Yamagata University; Monash University
RP Ichinose, A (corresponding author), Yamagata Univ, Sch Med, Dept Mol Pathobiochem & Pathobiol, Iida Nishi 2-2-2, Yamagata 9909585, Japan.
EM aichinos@med.id.yamagata-u.ac.jp
RI Osaki, Tsukasa/HII-8421-2022
OI Song, Youngseok/0000-0003-3294-3671; Osaki, Tsukasa/0000-0002-9487-3253;
   law, ruby/0000-0001-5432-5781
FU Yamagata University; Japanese Ministry of Education, Culture, Sports,
   Science and Technology (MEXT); Grants-in-Aid for Scientific Research
   [15K09449] Funding Source: KAKEN
FX This study was supported in part by the research promotion funds from
   Yamagata University and a grant from the Japanese Ministry of Education,
   Culture, Sports, Science and Technology (MEXT).
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NR 17
TC 1
Z9 1
U1 0
U2 2
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0929-5305
EI 1573-742X
J9 J THROMB THROMBOLYS
JI J. Thromb. Thrombolysis
PD AUG
PY 2016
VL 42
IS 2
BP 218
EP 224
DI 10.1007/s11239-016-1375-y
PG 7
WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular
   Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology; Hematology
GA DP9MD
UT WOS:000378819400010
PM 27193180
DA 2025-04-10
ER

PT J
AU Girard, B
   Ouafik, L
   Boudouresque, F
AF Girard, B
   Ouafik, L
   Boudouresque, F
TI Characterization and regulation of peptidylglycine α-amidating
   monooxygenase (PAM) expression in H9c2 cardiac myoblasts
SO CELL AND TISSUE RESEARCH
LA English
DT Article
DE H9c2 cardiac cells; PAM; alternative splicing; dexamethasone;
   triiodothyronine; cell culture (Rat)
ID ANTERIOR-PITUITARY GLAND; MEDULLARY-THYROID CARCINOMA; MESSENGER-RNA;
   RAT-HEART; PEPTIDE AMIDATION; GENE-EXPRESSION; MULTIPLE FORMS; TISSUE;
   ENZYME; PURIFICATION
AB Peptidylglycine alpha-amidating monooxygenase (PAM), which catalazyes the two-step formation of bioactive alpha-amidated peptides from their glycine-extended precursors, has been found in H9c2 myoblasts. The expression of PAM has been evaluated in H9c2 cells. Northern blot analysis and amplification of fragments derived from pat PAM by the reverse transcription/polymerase chain reaction method has demonstrated the presence of rPAM-1, -2, -3, -3a and -3b mRNA transcripts. These forms of PAM mRNA may be generated by alternative splicing. PAM mRNA levels are increased to 160+/-12% of control values by treatment with dexamethasone but are unchanged during triiodothyronine incubation of the cells. PAM activity is very low, which is not comparable to the high levels found in adult atrium tissue. Western blot analysis has demonstrated 86-, 76-, and 46-kDa PAM proteins in the particulate fraction. The soluble fraction contains major PAM proteins of 110, 86, and 46 kDa. In situ hybridization studies with S-35-labeled full length RNA antisense transcripts of rat PAM-1 cDNA have localized autoradiographic grains around the nucleus. Our data clearly demonstrate PAM expression in H9c2 rat heart cells, suggesting the ability of these cardiac cells to make bioactive alpha-amidated hormones and/or neuropeptides.
C1 Univ Mediterranee, IFR Jean Roche, Fac Med, Lab Canc Expt, F-13916 Marseille 20, France.
C3 Aix-Marseille Universite
RP Boudouresque, F (corresponding author), Univ Mediterranee, IFR Jean Roche, Fac Med, Lab Canc Expt, EA 2671,NBD Pierre Dramard, F-13916 Marseille 20, France.
OI Ouafik, L'Houcine/0000-0002-4848-1232; Girard,
   Beatrice/0000-0002-7793-5459
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NR 47
TC 3
Z9 10
U1 0
U2 0
PU SPRINGER VERLAG
PI NEW YORK
PA 175 FIFTH AVE, NEW YORK, NY 10010 USA
SN 0302-766X
J9 CELL TISSUE RES
JI Cell Tissue Res.
PD DEC
PY 1999
VL 298
IS 3
BP 489
EP 497
PG 9
WC Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology
GA 262MF
UT WOS:000084070500011
PM 10639739
DA 2025-04-10
ER

PT J
AU Payne, LB
   Abdelazim, H
   Hoque, M
   Barnes, A
   Mironovova, Z
   Willi, CE
   Darden, J
   Houk, C
   Sedovy, MW
   Johnstone, SR
   Chappell, JC
AF Payne, Laura Beth
   Abdelazim, Hanaa
   Hoque, Maruf
   Barnes, Audra
   Mironovova, Zuzana
   Willi, Caroline E.
   Darden, Jordan
   Houk, Clifton
   Sedovy, Meghan W.
   Johnstone, Scott R.
   Chappell, John C.
TI A Soluble Platelet-Derived Growth Factor Receptor-fi Originates via
   Pre-mRNA Splicing in the Healthy Brain and Is Upregulated during Hypoxia
   and Aging
SO BIOMOLECULES
LA English
DT Article
DE platelet-derived growth factor receptor-beta; pericytes; brain; hypoxia;
   aging; pre-mRNA splicing
ID TYROSINE KINASES; BLOOD-FLOW; PDGFR-BETA; PERICYTES; FLT-1; DOMAIN;
   MOUSE; FORM
AB The platelet-derived growth factor-BB (PDGF-BB) pathway provides critical regulation of cerebrovascular pericytes, orchestrating their investment and retention within the brain microcirculation. Dysregulated PDGF Receptor-beta (PDGFR beta) signaling can lead to pericyte defects that compromise blood-brain barrier (BBB) integrity and cerebral perfusion, impairing neuronal activity and viability, which fuels cognitive and memory deficits. Receptor tyrosine kinases such as PDGF-BB and vascular endothelial growth factor-A (VEGF-A) are often modulated by soluble isoforms of cognate receptors that establish signaling activity within a physiological range. Soluble PDGFR beta (sPDGFR beta) isoforms have been reported to form by enzymatic cleavage from cerebrovascular mural cells, and pericytes in particular, largely under pathological conditions. However, pre-mRNA alternative splicing has not been widely explored as a possible mechanism for generating sPDGFR beta variants, and specifically during tissue homeostasis. Here, we found sPDGFR beta protein in the murine brain and other tissues under normal, physiological conditions. Utilizing brain samples for follow-on analysis, we identified mRNA sequences corresponding to sPDGFR beta isoforms, which facilitated construction of predicted protein structures and related amino acid sequences. Human cell lines yielded comparable sequences and protein model predictions. Retention of ligand binding capacity was confirmed for sPDGFR beta by co-immunoprecipitation. Visualizing fluorescently labeled sPDGFR beta transcripts revealed a spatial distribution corresponding to murine brain pericytes alongside cerebrovascular endothelium. Soluble PDGFR fi protein was detected throughout the brain parenchyma in distinct regions, such as along the lateral ventricles, with signals also found more broadly adjacent to cerebral microvessels consistent with pericyte labeling. To better understand how sPDGFR beta variants might be regulated, we found elevated transcript and protein levels in the murine brain with age, and acute hypoxia increased sPDGFR beta variant transcripts in a cell-based model of intact vessels. Our findings indicate that soluble isoforms of PDGFR beta likely arise from pre-mRNA alternative splicing, in addition to enzymatic cleavage mechanisms, and these variants exist under normal physiological conditions. Follow-on studies will be needed to establish potential roles for sPDGFR beta in regulating PDGF-BB signaling to maintain pericyte quiescence, BBB integrity, and cerebral perfusion-critical processes underlying neuronal health and function, and in turn, memory and cognition.
C1 [Payne, Laura Beth; Abdelazim, Hanaa; Hoque, Maruf; Barnes, Audra; Mironovova, Zuzana; Willi, Caroline E.; Darden, Jordan; Houk, Clifton; Sedovy, Meghan W.; Johnstone, Scott R.; Chappell, John C.] Virginia Tech Caril VTC, Fralin Biomed Res Inst FBRI, Roanoke, VA 24016 USA.
   [Payne, Laura Beth; Abdelazim, Hanaa; Hoque, Maruf; Barnes, Audra; Mironovova, Zuzana; Willi, Caroline E.; Darden, Jordan; Sedovy, Meghan W.; Johnstone, Scott R.; Chappell, John C.] FBRI Ctr Vasc & Heart Res, Roanoke, VA 24016 USA.
   [Barnes, Audra; Chappell, John C.] Virginia Tech, Sch Biomed Engn & Sci, Dept Biomed Engn & Mech, Blacksburg, VA 24061 USA.
   [Houk, Clifton; Chappell, John C.] Virginia Tech, Caril Sch Med, Roanoke, VA 24016 USA.
   [Johnstone, Scott R.] Virginia Tech, Dept Biol Sci, Blacksburg, VA 24061 USA.
C3 Virginia Polytechnic Institute & State University; Virginia Polytechnic
   Institute & State University; Virginia Polytechnic Institute & State
   University
RP Chappell, JC (corresponding author), Virginia Tech Caril VTC, Fralin Biomed Res Inst FBRI, Roanoke, VA 24016 USA.; Chappell, JC (corresponding author), FBRI Ctr Vasc & Heart Res, Roanoke, VA 24016 USA.; Chappell, JC (corresponding author), Virginia Tech, Sch Biomed Engn & Sci, Dept Biomed Engn & Mech, Blacksburg, VA 24061 USA.; Chappell, JC (corresponding author), Virginia Tech, Caril Sch Med, Roanoke, VA 24016 USA.
EM JChappell@vtc.vt.edu
RI Johnstone, Scott/E-5032-2013; Chappell, John/LJR-2739-2024
OI Payne, Laura/0000-0001-6439-5329
FU National Institutes of Health [R01HL146596, R21HL165296]; National
   Science Foundation [1752339]; American Heart Association
   [19CDA34630036]; American Heart Association (AHA) [19CDA34630036]
   Funding Source: American Heart Association (AHA)
FX This work was supported in part by funding from the National Institutes
   of Health (R01HL146596 and R21HL165296 to J.C.C.), the National Science
   Foundation (CAREER Award 1752339 to J.C.C.), and the American Heart
   Association (Career Development Award #19CDA34630036 to S.R.J.).
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NR 53
TC 4
Z9 4
U1 0
U2 4
PU MDPI
PI BASEL
PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
EI 2218-273X
J9 BIOMOLECULES
JI Biomolecules
PD APR
PY 2023
VL 13
IS 4
AR 711
DI 10.3390/biom13040711
PG 21
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA F2XZ9
UT WOS:000981041500001
PM 37189457
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Xue, K
   Wang, Y
   Hou, YG
   Wang, YL
   Zhong, T
   Li, L
   Zhang, HP
   Wang, LJ
AF Xue, Ke
   Wang, Yan
   Hou, Yuguo
   Wang, Yilin
   Zhong, Tao
   Li, Li
   Zhang, Hongping
   Wang, Linjie
TI Molecular characterization and expression patterns of the
   actinin-associated LIM protein (ALP) subfamily genes in porcine skeletal
   muscle
SO GENE
LA English
DT Article
DE ALP subfamily; Alternative splicing; PDLIM3; Pig
ID DOMAIN PROTEIN; CELL-GROWTH; PDZ; RIL; CARDIOMYOPATHY; SELECTION;
   PDLIM2; CYPHER; HEART; FORM
AB The actinin-associated LIM protein (ALP) subfamily has important functions in cell signal transduction, cell proliferation, and integration of cytoskeletal architecture. To detect their functions in pig skeletal muscle, we cloned and characterized the pig ALP subfamily genes, drew their genomic structure maps, and detected their tissue expression patterns. We identified a new spliced variant of PDLIM3 in pig skeletal muscle and named it as PDLIM3-4, which was only expressed in the heart and skeletal muscle. Our results showed that PDLIM3-4 was expressed in adult pig skeletal muscle with the highest expression level, and both PDLIM3-4 isoform and PDLIM4 had different expression profiles during the prenatal and postnatal stages of skeletal muscle development among the three pig breeds. These studies provide useful information for further research on the functions of pig ALP subfamily genes in skeletal muscle development. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Xue, Ke; Wang, Yan; Hou, Yuguo; Wang, Yilin; Zhong, Tao; Li, Li; Zhang, Hongping; Wang, Linjie] Sichuan Agr Univ, Coll Anim Sci & Technol, Inst Anim Genet & Breeding, Chengdu, Sichuan, Peoples R China.
C3 Sichuan Agricultural University
RP Wang, LJ (corresponding author), Sichuan Agr Univ, Coll Anim Sci & Technol, Inst Anim Genet & Breeding, Chengdu, Sichuan, Peoples R China.
EM wanglinjie@sicau.edu.cn
RI Li, Li/T-4353-2017; Wang, Yilin/P-8610-2017; Zhong, Tao/GOV-5060-2022;
   WANG, YAN/IVV-6739-2023
OI Yilin, Wang/0000-0001-5320-0274
FU National Natural Science Foundation of China [31101699]; Two-Way Support
   Programs of Sichuan Agricultural University
FX This study was supported by the grant from the National Natural Science
   Foundation of China (31101699) and the Two-Way Support Programs of
   Sichuan Agricultural University. We also thank Dr. Wangjun Wu in Nanjing
   Agricultural University and Dr. Pengpeng Zhang in Purdue University for
   their help with language editing.
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NR 32
TC 3
Z9 3
U1 2
U2 11
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD APR 10
PY 2014
VL 539
IS 1
BP 111
EP 116
DI 10.1016/j.gene.2014.01.038
PG 6
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA AD8DK
UT WOS:000333496500016
PM 24462755
DA 2025-04-10
ER

PT J
AU Nollet, M
   Bachelier, R
   Joshkon, A
   Traboulsi, W
   Mahieux, A
   Moyon, A
   Muller, A
   Somasundaram, I
   Simoncini, S
   Peiretti, F
   Leroyer, AS
   Guillet, B
   Granel, B
   Dignat-George, F
   Bardin, N
   Foucault-Bertaud, A
   Blot-Chabaud, M
AF Nollet, Marie
   Bachelier, Richard
   Joshkon, Ahmad
   Traboulsi, Wael
   Mahieux, Amandine
   Moyon, Anais
   Muller, Alexandre
   Somasundaram, Indumathi
   Simoncini, Stephanie
   Peiretti, Franck
   Leroyer, Aurelie S.
   Guillet, Benjamin
   Granel, Brigitte
   Dignat-George, Francoise
   Bardin, Nathalie
   Foucault-Bertaud, Alexandrine
   Blot-Chabaud, Marcel
TI Involvement of Multiple Variants of Soluble CD146 in Systemic Sclerosis:
   Identification of a Novel Profibrotic Factor
SO ARTHRITIS & RHEUMATOLOGY
LA English
DT Article
ID ENDOTHELIAL PROGENITOR CELLS; SPLICE VARIANT; BETA-CATENIN;
   ANGIOGENESIS; GROWTH; ACTIVATION; VEGF(165)B; MEMBRANE; ISOFORMS;
   PATHWAY
AB Objective Systemic sclerosis (SSc) is an autoimmune disorder characterized by excessive fibrosis, immune dysfunction, and vascular damage, in which the expression of many growth factors is deregulated. CD146 was recently described as a major actor in SSc. Since CD146 also exists as a circulating soluble form (sCD146) that acts as a growth factor in numerous angiogenic- and inflammation-related pathologies, we sought to identify the mechanisms underlying the generation of sCD146 and to characterize the regulation and functions of the different variants identified in SSc. Methods We performed in vitro experiments, including RNA-Seq and antibody arrays, and in vivo experiments using animal models of bleomycin-induced SSc and hind limb ischemia. Results Multiple forms of sCD146, generated by both shedding and alternative splicing of the primary transcript, were discovered. The shed form of sCD146 was generated from the cleavage of both long and short membrane isoforms of CD146 through ADAM-10 and TACE metalloproteinases, respectively. In addition, 2 novel sCD146 splice variants, I5-13-sCD146 and I10-sCD146, were identified. Of interest, I5-13-sCD146 was significantly increased in the sera of SSc patients (P < 0.001; n = 117), in particular in patients with pulmonary fibrosis (P < 0.01; n = 112), whereas I10-sCD146 was decreased (P < 0.05; n = 117). Further experiments revealed that shed sCD146 and I10-sCD146 displayed proangiogenic activity through the focal adhesion kinase and protein kinase C epsilon signaling pathways, respectively, whereas I5-13-sCD146 displayed profibrotic effects through the Wnt-1/beta-catenin/WISP-1 pathway. Conclusion Variants of sCD146, and in particular the novel I5-13-sCD146 splice variant, could constitute novel biomarkers and/or molecular targets for the diagnosis and treatment of SSc and other angiogenesis- or fibrosis-related disorders.
C1 [Nollet, Marie; Bachelier, Richard; Joshkon, Ahmad; Traboulsi, Wael; Mahieux, Amandine; Moyon, Anais; Muller, Alexandre; Simoncini, Stephanie; Peiretti, Franck; Leroyer, Aurelie S.; Guillet, Benjamin; Granel, Brigitte; Dignat-George, Francoise; Bardin, Nathalie; Foucault-Bertaud, Alexandrine; Blot-Chabaud, Marcel] Aix Marseille Univ, INSERM 1263, INRAE 1260, C2VN, Marseille, France.
   [Moyon, Anais; Guillet, Benjamin] Aix Marseille Univ, CERIMED, Marseille, France.
   [Somasundaram, Indumathi] DY Patil Univ, Kolhapur, Maharashtra, India.
   [Granel, Brigitte] AP HM, Marseille, France.
C3 INRAE; Institut National de la Sante et de la Recherche Medicale
   (Inserm); Aix-Marseille Universite; Aix-Marseille Universite;
   Aix-Marseille Universite; Assistance Publique-Hopitaux de Marseille
RP Blot-Chabaud, M (corresponding author), C2VN, 27 Blvd J Moulin, F-13005 Marseille, France.
EM marcel.blot-chabaud@laposte.net
RI Peiretti, Franck/GLV-3378-2022; Joshkon, Ahmad/AFR-7901-2022; Leroyer,
   Aurelie/M-4400-2016; Blot-Chabaud, Marcel/D-4064-2017; Bardin,
   Nathalie/AAL-3663-2020; DIGNAT-GEORGE, Francoise/R-1129-2016; Nollet,
   Marie/M-2752-2017; Peiretti, Franck/L-2718-2017
OI Bardin, Nathalie/0000-0003-3680-082X; DIGNAT-GEORGE,
   Francoise/0000-0001-7006-4462; Nollet, Marie/0000-0002-9667-8216;
   Peiretti, Franck/0000-0001-7198-0534
FU INSERM; Aix-Marseille University, Agence Nationale de la Recherche; MSD
   Avenir
FX Supported by INSERM, Aix-Marseille University, Agence Nationale de la
   Recherche, and MSD Avenir.
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NR 38
TC 7
Z9 7
U1 1
U2 13
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 2326-5191
EI 2326-5205
J9 ARTHRITIS RHEUMATOL
JI Arthritis Rheumatol.
PD JUN
PY 2022
VL 74
IS 6
BP 1027
EP 1038
DI 10.1002/art.42063
EA APR 2022
PG 12
WC Rheumatology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Rheumatology
GA 1Q8TC
UT WOS:000782131900001
PM 35001552
DA 2025-04-10
ER

PT J
AU Tarugi, P
   Ballarini, G
   Bembi, B
   Battisti, C
   Palmeri, S
   Panzani, F
   Di Leo, E
   Martini, C
   Federico, A
   Calandra, S
AF Tarugi, P
   Ballarini, G
   Bembi, B
   Battisti, C
   Palmeri, S
   Panzani, F
   Di Leo, E
   Martini, C
   Federico, A
   Calandra, S
TI Niemann-Pick type C disease: mutations of NPC1 gene and evidence of
   abnormal expression of some mutant alleles in fibroblasts
SO JOURNAL OF LIPID RESEARCH
LA English
DT Article
DE monoallelic expression; abnormal mRNA decay; splicing defects;
   alternative splicing
ID NONSENSE-MEDIATED DECAY; STEROL-SENSING DOMAIN; MESSENGER-RNA;
   CHOLESTEROL TRAFFICKING; REGULATORY MECHANISM; MAMMALIAN-CELLS; PROTEIN;
   TRANSLATION; NIEMANN-PICK-C1-DISEASE; JUNCTIONS
AB We analyzed Niemann-Pick type C disease I (NPC1) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes. We found 15 mutations, eight of which previously unreported. The comparison of cDNA and genomic DNA revealed discrepancies in some subjects. In two unrelated patients carrying the same mutations (P474L and nt 2972del2) only one mutant allele (P474L), was expressed in fibroblasts. The mRNA corresponding to the other allele was not detected even in cells incubated with cycloheximide. The promoter variants (-1026T/G and -1186T/C or -238 C/G), found to be in linkage with 2972del2 allele do not explain the lack of expression of this allele, as they were also found in control subjects. In another patient, (N1156S/Q922X) the N1156S allele was expressed in fibroblasts while the expression of the other allele was hardly detectable. In a fourth patient cDNA analysis revealed a point mutation in exon 20 (P1007A) and a 56 nt deletion in exon 22 leading to a frameshift and a premature stop codon. The first mutation was confirmed in genomic DNA; the second turned out to be a T-->G transversion in exon 22, predicted to cause a missense mutation (VI 141 G). In fact, this transversion generates a donor splice site in exon 22, which causes an abnormal pre-mRNA splicing leading to a partial deletion of this exon. In some NPC patients, therefore, the comparison between cDNA and genomic DNA may reveal an unexpected expression of some mutant alleles of NPC1 gene.
C1 Univ Modena & Reggio Emilia, Dipartimento Sci Biomed, Modena, Italy.
   Univ Siena, Ist Sci Neurol, I-53100 Siena, Italy.
   Ist Pediat Burlo Garofolo, Trieste, Italy.
C3 Universita di Modena e Reggio Emilia; University of Siena; IRCCS Burlo
   Garofolo
RP Univ Modena & Reggio Emilia, Dipartimento Sci Biomed, Modena, Italy.
EM sebcal@unimo.it
RI Federico, Antonio/H-8871-2017; Tarugi, Patrizia/D-2179-2015
OI Calandra, Sebastiano/0000-0001-6386-9174; Tarugi,
   Patrizia/0000-0001-6864-7853; federico, antonio/0000-0002-5246-1621
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NR 33
TC 38
Z9 44
U1 0
U2 1
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 0022-2275
EI 1539-7262
J9 J LIPID RES
JI J. Lipid Res.
PD NOV
PY 2002
VL 43
IS 11
BP 1908
EP 1919
DI 10.1194/jlr.M200203-JLR200
PG 12
WC Biochemistry & Molecular Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology
GA 616FY
UT WOS:000179294500015
PM 12401890
OA hybrid
DA 2025-04-10
ER

PT J
AU Öklü, R
   Hesketh, R
   Wicky, S
   Metcalfe, JC
AF Oeklue, Rahmi
   Hesketh, Robin
   Wicky, Stephan
   Metcalfe, James C.
TI Expression of mRNA Isoforms of Latent Transforming Growth Factor-β
   Binding Protein-1 in Coronary Atherosclerosis and Human Tissues
SO BIOCHEMICAL GENETICS
LA English
DT Article
DE Latent transforming growth factor-beta binding protein; Q-RT-PCR;
   Alternative splicing; Genetic variation
ID SMOOTH-MUSCLE-CELLS; AMERICAN-HEART-ASSOCIATION; TGF-BETA;
   VASCULAR-LESIONS; RECEPTOR; TGF-BETA-1; GROWTH-FACTOR-BETA-1;
   ARTERIOSCLEROSIS; IDENTIFICATION; DEFINITION
AB Latent transforming growth factor-beta binding protein-1 (LTBP1) has been implicated in the control of secretion, localization, and activation of TGF beta (transforming growth factor-beta). We developed a quantitative reverse-transcriptase polymerase chain reaction (Q-RT-PCR) assay using an RNA internal standard to examine the expression of three alternatively spliced isoforms of LTBP1 (LTBP1 Delta 41, LTBP1 Delta 53, and LTBP1 Delta 55) in a variety of human tissues. The assays were also used to determine the expression of LTBP1L and LTBP1S isoforms and total LTBP1. The Q-RT-PCR assays were highly reproducible and showed that in most tissues LTBP1 Delta 55 and LTBP1L were minor components of LTBP1. The proportion of LTBP1 Delta 41 ranged from 2% of total LTBP1 mRNA in early coronary atherosclerotic lesions to 54% in advanced lesions.
C1 [Oeklue, Rahmi; Wicky, Stephan] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Boston, MA 02155 USA.
   [Hesketh, Robin; Metcalfe, James C.] Univ Cambridge, Dept Biochem, Sect Cardiovasc Biol, Cambridge CB2 1QW, England.
C3 Harvard University; Harvard Medical School; Massachusetts General
   Hospital; University of Cambridge
RP Öklü, R (corresponding author), Harvard Univ, Sch Med, Massachusetts Gen Hosp, 55 Fruit St, Boston, MA 02155 USA.
EM roklu@partners.org
OI Oklu, Rahmi/0000-0003-4984-1778
FU British Heart Foundation; Ali Y. Koc, Koc Holding, Istanbul, Turkey
FX This work was supported by a British Heart Foundation program grant to
   JCM. RO is the recipient of a Koc scholarship from Ali Y. Koc, Koc
   Holding, Istanbul, Turkey. We are grateful to Drs. Chris Byrne and
   Junlong Zhang for helpful discussion of their Q-RT-PCR method.
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NR 25
TC 1
Z9 1
U1 0
U2 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0006-2928
J9 BIOCHEM GENET
JI Biochem. Genet.
PD APR
PY 2011
VL 49
IS 3-4
BP 213
EP 225
DI 10.1007/s10528-010-9400-x
PG 13
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 732EV
UT WOS:000288168700007
PM 21161366
DA 2025-04-10
ER

PT J
AU Schwaller, B
   Meyer-Monard, S
   Gander, JC
   Pugin, P
   Celio, MR
   Ludwig, C
AF Schwaller, B
   Meyer-Monard, S
   Gander, JC
   Pugin, P
   Celio, MR
   Ludwig, C
TI The calcium-binding protein calretinin-22K is detectable in the serum
   and specific cells of cancer patients
SO ANTICANCER RESEARCH
LA English
DT Article
DE EF-hand proteins; calcium-binding; alternative splicing
ID WIDR CELLS; EXPRESSION; MARKER; IMMUNOREACTIVITY; LINES
AB Background: Calretinin-22k (CR-22k),an alternatively spliced form of calretinin (CR) belongs to the EF-hand family of calcium-binding proteins and is expressed in several colon adenocarcinoma cell lines (e.g WiDr, HT-29). Materials and Methods: Serum samples of cancer patients were screened with a sandwich ELISA technique using the CR-specific antiserum 7696. Highly positive samples were analyzed by Western blots and immunohistochemistry. Results: CR-22k was detected in the serum of several patients and values were as high as 0.19 mu g/ml. Western blot analysis confirmed the identity of the bound protein as CR-22k. The highest concentrations were detected in patients with colon or breast cancer, but also in a patient with ischemic necrosis of the gut. CR immunoreactivity was localized to epithelial cells, nerve fibres, cells of the connective tissue and to mesothelial cells. Conclusions: Our results establish that CR-22k is detectable in the serum of cancer patients under specific pathological conditions.
C1 Univ Fribourg, Inst Histol & Gen Embryol, CH-1705 Fribourg, Switzerland.
   St Claraspital, Dept Internal Med, CH-4016 Basel, Switzerland.
   Cantonal Hosp, CH-1700 Fribourg, Switzerland.
C3 University of Fribourg
RP Schwaller, B (corresponding author), Univ Fribourg, Inst Histol & Gen Embryol, CH-1705 Fribourg, Switzerland.
RI Celio, Marco/O-5193-2014
OI Schwaller, Beat/0000-0002-8277-7555
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NR 18
TC 11
Z9 11
U1 0
U2 0
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDNTIOU-KALAMOU RD KAPANDRITI, POB 22,
   ATHENS 19014, GREECE
SN 0250-7005
J9 ANTICANCER RES
JI Anticancer Res.
PD SEP-OCT
PY 1998
VL 18
IS 5B
BP 3661
EP 3667
PG 7
WC Oncology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Oncology
GA 148KN
UT WOS:000077504500006
PM 9854474
DA 2025-04-10
ER

PT J
AU Perna, A
   Bosco, L
   Fattori, F
   Torchia, E
   Modoni, A
   Papacci, M
   Petrucci, A
   Tasca, G
   Ricci, E
   Bertini, ES
   Silvestri, G
AF Perna, Alessia
   Bosco, Luca
   Fattori, Fabiana
   Torchia, Eleonora
   Modoni, Anna
   Papacci, Manuela
   Petrucci, Antonio
   Tasca, Giorgio
   Ricci, Enzo
   Bertini, Enrico Silvio
   Silvestri, Gabriella
TI Familial childhood onset, slowly progressive myopathy plus
   cardiomyopathy expands the phenotype related to variants in the TTN
   gene
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE TTN gene; Titinopathy; TTN myopathy; Titin; Cardiomyopathy
ID TTN
AB This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their late disease stages. Clinical exome sequencing documented in both siblings the heterozygous c.2089A > T and c.19426 + 2T > A variants in TTN . The c.2089A > T, classified in ClinVar as possibly pathogenic, introduces a premature stop codon in exon 14, whereas the c.19426 + 2T > A affects TTN alternative splicing. The unfeasibility of segregation studies prevented us from establishing the inheritance mode of the muscle disease in this family, although the lack of any reported muscle or heart symptoms in both parents might support an autosomal recessive transmission. In this view, the occurrence of cardiomyopathy in both probands might be related to the c.2089A > T truncating variant in exon 14, and the childhood onset, slowly progressive myopathy to the c.19426 + 2T > A splicing variant, possibly allowing translation of an almost full length TTN protein.
C1 [Perna, Alessia; Torchia, Eleonora; Papacci, Manuela; Ricci, Enzo; Silvestri, Gabriella] Univ Cattolica Sacro Cuore, Dept Neurosci, Sect Neurol, Rome, Italy.
   [Bosco, Luca; Bertini, Enrico Silvio] IRCCS, Unit Neuromuscular Disorders, Bambino Gesu Childrens Hosp, Rome, Italy.
   [Bosco, Luca] Univ Roma Tre, Dept Sci, Rome, Italy.
   [Fattori, Fabiana] IRCCS, Bambino Gesu Children Hosp, Translat Cytogenom Res Unit, Lab Med Genet, Rome, Italy.
   [Modoni, Anna; Tasca, Giorgio; Ricci, Enzo; Silvestri, Gabriella] IRCCS, Fdn Policlin Univ Agostino Gemelli, Neurol Unit, Rome, Italy.
   [Petrucci, Antonio] San Camillo Hosp, Dept Neurol, Rome, Italy.
   [Silvestri, Gabriella] Lgo F Vito 1, I-00168 Rome, Italy.
   [Tasca, Giorgio] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England.
   [Tasca, Giorgio] Newcastle Hosp NHS Fdn Trusts, Newcastle Upon Tyne, England.
C3 Catholic University of the Sacred Heart; IRCCS Policlinico Gemelli;
   IRCCS Bambino Gesu; Italfarmaco; Roma Tre University; IRCCS Bambino
   Gesu; Catholic University of the Sacred Heart; IRCCS Policlinico
   Gemelli; Newcastle University - UK; Newcastle Upon Tyne Hospitals NHS
   Foundation Trust
RP Silvestri, G (corresponding author), Lgo F Vito 1, I-00168 Rome, Italy.
EM gabriella.silvestri@unicatt.it
RI Perna, Alessia/HDM-6864-2022; Bertini, Enrico/A-2284-2014; Bosco,
   Luca/AAH-9239-2019; Tasca, Giorgio/J-5153-2018; Silvestri,
   Gabriella/N-6588-2013; Fattori, Fabiana/K-1033-2016
OI SILVESTRI, Gabriella/0000-0002-1950-1468; Torchia,
   Eleonora/0000-0003-1965-6483; Perna, Alessia/0000-0003-2268-3079
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NR 14
TC 0
Z9 0
U1 0
U2 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
EI 1873-2364
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD APR
PY 2024
VL 37
BP 1
EP 5
DI 10.1016/j.nmd.2024.02.001
EA MAR 2024
PG 5
WC Clinical Neurology; Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA OZ5M7
UT WOS:001211112200001
PM 38430701
DA 2025-04-10
ER

PT J
AU Han, YS
   Bandi, R
   Fogarty, MJ
   Sieck, GC
   Brozovich, FV
AF Han, Young Soo
   Bandi, Rishiraj
   Fogarty, Matthew J.
   Sieck, Gary C.
   Brozovich, Frank V.
TI Aging related decreases in NM myosin expression and contractility in a
   resistance vessel
SO FRONTIERS IN PHYSIOLOGY
LA English
DT Article
DE vascular reactivity; MYPT1; NM myosin; NO; endothelial independent and
   dependent vasodilatation
ID LIGHT-CHAIN PHOSPHATASE; SMOOTH-MUSCLE CONTRACTION; PROTEIN-KINASE-C;
   NONMUSCLE MYOSIN; CA2+ SENSITIZATION; FORCE MAINTENANCE; AORTIC
   STIFFNESS; BINDING SUBUNIT; LEUCINE-ZIPPER; HEART-FAILURE
AB Introduction: Vasodilatation in response to NO is a fundamental response of the vasculature, and during aging, the vasculature is characterized by an increase in stiffness and decrease in sensitivity to NO mediated vasodilatation. Vascular tone is regulated by the activation of smooth muscle and nonmuscle (NM) myosin, which are regulated by the activities of myosin light chain kinase (MLCK) and MLC phosphatase. MLC phosphatase is a trimeric enzyme with a catalytic subunit, myosin targeting subunit (MYPT1) and 20 kDa subunit of unknown function. Alternative mRNA splicing produces LZ+/LZ- MYPT1 isoforms and the relative expression of LZ+/LZ- MYPT1 determines the sensitivity to NO mediated vasodilatation. This study tested the hypothesis that aging is associated with changes in LZ+ MYPT1 and NM myosin expression, which alter vascular reactivity.Methods: We determined MYPT1 and NM myosin expression, force and the sensitivity of both endothelial dependent and endothelial independent relaxation in tertiary mesenteric arteries of young (6mo) and elderly (24mo) Fischer344 rats.Results: The data demonstrate that aging is associated with a decrease in both the expression of NM myosin and force, but LZ+ MYPT expression and the sensitivity to both endothelial dependent and independent vasodilatation did not change. Further, smooth muscle cell hypertrophy increases the thickness of the medial layer of smooth muscle with aging.Discussion: The reduction of NM myosin may represent an aging associated compensatory mechanism to normalize the stiffness of resistance vessels in response to the increase in media thickness observed during aging.
C1 [Han, Young Soo; Bandi, Rishiraj; Fogarty, Matthew J.; Sieck, Gary C.; Brozovich, Frank V.] Mayo Clin, Dept Physiol & Biomed Engn & Cardiovasc Dis, Rochester, MN 55905 USA.
C3 Mayo Clinic
RP Brozovich, FV (corresponding author), Mayo Clin, Dept Physiol & Biomed Engn & Cardiovasc Dis, Rochester, MN 55905 USA.
EM brozovich.frank@mayo.edu
FU Mayo Clinic CV Prospective Research Award (FVB)
FX The author(s) declare that financial support was received for the
   research, authorship, and/or publication of this article. This study was
   supported by a Mayo Clinic CV Prospective Research Award (FVB).
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NR 86
TC 0
Z9 0
U1 0
U2 0
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
EI 1664-042X
J9 FRONT PHYSIOL
JI Front. Physiol.
PD MAY 14
PY 2024
VL 15
AR 1411420
DI 10.3389/fphys.2024.1411420
PG 10
WC Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Physiology
GA SD5U8
UT WOS:001232541600001
PM 38808359
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Tseng, E
   Underwood, JG
   Hutzenbiler, BDE
   Trojahn, S
   Kingham, B
   Shevchenko, O
   Bernberg, E
   Vierra, M
   Robbins, CT
   Jansen, HT
   Kelley, JL
AF Tseng, Elizabeth
   Underwood, Jason G.
   Hutzenbiler, Brandon D. Evans
   Trojahn, Shawn
   Kingham, Brewster
   Shevchenko, Olga
   Bernberg, Erin
   Vierra, Michelle
   Robbins, Charles T.
   Jansen, Heiko T.
   Kelley, Joanna L.
TI Long-read isoform sequencing reveals tissue-specific isoform expression
   between active and hibernating brown bears (Ursus arctos)
SO G3-GENES GENOMES GENETICS
LA English
DT Article
DE hibernation; brown bear; transcriptomics; Iso-Seq; alternative splicing;
   differential isoform expression; full-length transcript sequencing
ID SEASONAL-CHANGES; SKELETAL-MUSCLE; ADAPTATION; URSIDAE; FAMILY; GENES;
   ROLES; LIGHT; NRIF3; LIFE
AB Understanding hibernation in brown bears (Ursus arctos) can provide insight into some human diseases. During hibernation, brown bears experience periods of insulin resistance, physical inactivity, extreme bradycardia, obesity, and the absence of urine production. These states closely mimic aspects of human diseases such as type 2 diabetes, muscle atrophy, as well as renal and heart failure. The reversibility of these states from hibernation to active season enables the identification of mediators with possible therapeutic value for humans. Recent studies have identified genes and pathways that are differentially expressed between active and hibernation seasons in bears. However, little is known about the role of differential expression of gene isoforms on hibernation physiology. To identify both distinct and novel mRNA isoforms, full-length RNA-sequencing (Iso-Seq) was performed on adipose, skeletal muscle, and liver from three individual bears sampled during both active and hibernation seasons. The existing reference genome annotation was improved by combining it with the Iso-Seq data. Short-read RNA-sequencing data from six individuals were mapped to the new reference annotation to quantify differential isoform usage (DIU) between tissues and seasons. We identified differentially expressed isoforms in all three tissues, to varying degrees. Adipose had a high level of DIU with isoform switching, regardless of whether the genes were differentially expressed. Our analyses revealed that DIU, even in the absence of differential gene expression, is an important mechanism for modulating genes during hibernation. These findings demonstrate the value of isoform expression studies and will serve as the basis for deeper exploration into hibernation biology.
C1 [Tseng, Elizabeth; Underwood, Jason G.; Vierra, Michelle] Pacific Biosci, Menlo Pk, CA 94025 USA.
   [Hutzenbiler, Brandon D. Evans; Jansen, Heiko T.] Washington State Univ, Dept Integrat Physiol & Neurosci, Pullman, WA 99164 USA.
   [Hutzenbiler, Brandon D. Evans; Robbins, Charles T.] Washington State Univ, Sch Environm, Pullman, WA 99164 USA.
   [Trojahn, Shawn; Robbins, Charles T.; Kelley, Joanna L.] Washington State Univ, Sch Biol Sci, 100 Dairy Rd, Pullman, WA 99164 USA.
   [Kingham, Brewster; Shevchenko, Olga; Bernberg, Erin] Univ Delaware, Sequencing & Genotyping Ctr, Delaware Biotechnol Inst, Newark, DE 19711 USA.
C3 Washington State University; Washington State University; Washington
   State University; University of Delaware
RP Kelley, JL (corresponding author), Washington State Univ, Sch Biol Sci, 100 Dairy Rd, Pullman, WA 99164 USA.
EM joanna.l.kelley@wsu.edu
RI Kelley, Joanna/H-1693-2012; Jansen, Heiko/A-5770-2008
OI Kingham, Brewster/0000-0003-3862-7442
FU Pacific Biosciences (PacBio) SMRT grant; Interagency Grizzly Bear
   Committee, United States Department of Agriculture National Institute of
   Food and Agriculture [1018967]; International Association for Bear
   Research and Management; T. N. Tollefson and Mazuri Exotic Animal
   Nutrition; Raili Korkka Brown Bear Endowment; Nutritional Ecology
   Endowment; Bear Research and Conservation Endowment at Washington State
   University
FX The sequencing for this project was funded by a Pacific Biosciences
   (PacBio) SMRT grant. We would also like to acknowledge the Interagency
   Grizzly Bear Committee, United States Department of Agriculture National
   Institute of Food and Agriculture (McIntire-Stennis project 1018967),
   International Association for Bear Research and Management, T. N.
   Tollefson and Mazuri Exotic Animal Nutrition, the Raili Korkka Brown
   Bear Endowment, Nutritional Ecology Endowment, and Bear Research and
   Conservation Endowment at Washington State University for funding and
   support.
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NR 48
TC 9
Z9 9
U1 1
U2 26
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 2160-1836
J9 G3-GENES GENOM GENET
JI G3-Genes Genomes Genet.
PD MAR 4
PY 2022
VL 12
IS 3
DI 10.1093/g3journal/jkab422
EA JAN 2022
PG 10
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA 0E4SZ
UT WOS:000767697700001
PM 35100340
OA gold, Green Submitted, Green Published
DA 2025-04-10
ER

PT J
AU Vermeer, MCSC
   Andrei, D
   Kramer, D
   Nijenhuis, AM
   Hoedemaekers, YM
   Westers, H
   Jongbloed, JDH
   Pas, HH
   Van den Berg, MP
   Silljé, HHW
   Van der Meer, P
   Bolling, MC
AF Vermeer, Mathilde C. S. C.
   Andrei, Daniela
   Kramer, Duco
   Nijenhuis, Albertine M.
   Hoedemaekers, Yvonne M.
   Westers, Helga
   Jongbloed, Jan D. H.
   Pas, Hendri H.
   van den Berg, Maarten P.
   Sillje, Herman H. W.
   van der Meer, Peter
   Bolling, Maria C.
TI Functional investigation of two simultaneous or separately segregating
   DSP variants within a single family supports the theory of a
   dose-dependent disease severity
SO EXPERIMENTAL DERMATOLOGY
LA English
DT Article
DE cardiocutaneous syndrome; cardiomyopathy and genotype-phenotype
   correlation; desmoplakin; palmoplantar keratoderma
ID STRIATE PALMOPLANTAR KERATODERMA; DESMOPLAKIN CAUSES; WOOLLY HAIR;
   MUTATIONS; DIFFERENTIATION; CARDIOMYOPATHY; DESMOSOMES; DIAGNOSIS; ASSAY
AB Desmoplakin (DP) is an important component of desmosomes, essential in cell-cell connecting structures in stress-bearing tissues. Over the years, many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or a combination, known as a cardiocutaneous syndrome. Of less than 5% of the reported DSP variants, the effect on the protein has been investigated. Here, we describe and have performed RNA, protein and tissue analysis in a large family where DSPc.273+5G>A/c.6687delA segregated with palmoplantar keratoderma (PPK), woolly hair and lethal cardiomyopathy, while DSPWT/c.6687delA segregated with PPK and milder cardiomyopathy. hiPSC-derived cardiomyocytes and primary keratinocytes from carriers were obtained for analysis. Unlike the previously reported nonsense variants in the last exon of DSP that bypassed the nonsense-mediated mRNA surveillance system leading to protein truncation, variant c.6687delA was shown to cause the loss of protein expression. Patients carrying both variants and having a considerably more severe phenotype were shown to have 70% DP protein reduction, while patients carrying only c.6687delA had 50% protein reduction and a milder phenotype. The analysis of RNA from patient cells did not show any splicing effect of the c.273+5G>A variant. However, a minigene splicing assay clearly showed alternative spliced transcripts originating from this variant. This study shows the importance of RNA and protein analyses to pinpoint the exact effect of DSP variants instead of solely relying on predictions. In addition, the particular pattern of inheritance, with simultaneous or separately segregating DSP variants within the same family, strongly supports the theory of a dose-dependent disease severity.
C1 [Vermeer, Mathilde C. S. C.; van den Berg, Maarten P.; Sillje, Herman H. W.; van der Meer, Peter] Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, Groningen, Netherlands.
   [Andrei, Daniela; Kramer, Duco; Nijenhuis, Albertine M.; Pas, Hendri H.; Bolling, Maria C.] Univ Groningen, Univ Med Ctr Groningen, Dept Dermatol, Groningen, Netherlands.
   [Hoedemaekers, Yvonne M.] Radboud Univ Nijmegen, Radboud Univ Med Ctr, Dept Genet, Nijmegen, Netherlands.
   [Westers, Helga; Jongbloed, Jan D. H.] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands.
C3 University of Groningen; University of Groningen; Radboud University
   Nijmegen; University of Groningen
RP Bolling, MC (corresponding author), Univ Groningen, Univ Med Ctr Groningen, Dept Dermatol, Groningen, Netherlands.
EM m.c.bolling@umcg.nl
RI van der Wal, Haye/V-7528-2019; Vermeer, Maarten/AAO-5381-2021; Pas,
   Hendri/G-9749-2011; Silljé, Herman/HTQ-2745-2023
OI Andrei, Daniela/0000-0003-4211-2783; Sillje, Herman/0000-0003-3292-6302;
   Vermeer, Mathilde/0000-0001-8513-2296; van den Berg,
   Maarten/0000-0002-1493-2998
FU European Research Counsel [715732]; Human Frontier Science Program [RGY
   0071/2014]; Vlinderkind; European Research Council (ERC) [715732]
   Funding Source: European Research Council (ERC)
FX European Research Counsel, Grant/Award Number: 715732; Human Frontier
   Science Program, Grant/Award Number: RGY 0071/2014; Vlinderkind
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NR 34
TC 3
Z9 3
U1 0
U2 3
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0906-6705
EI 1600-0625
J9 EXP DERMATOL
JI Exp. Dermatol.
PD JUN
PY 2022
VL 31
IS 6
BP 970
EP 979
DI 10.1111/exd.14571
EA APR 2022
PG 10
WC Dermatology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Dermatology
GA 1V6JE
UT WOS:000776785200001
PM 35325485
OA Green Published
DA 2025-04-10
ER

PT J
AU Zennaro, MC
   Farman, N
   Bonvalet, JP
   Lombes, M
AF Zennaro, MC
   Farman, N
   Bonvalet, JP
   Lombes, M
TI Tissue-specific expression of alpha and beta messenger ribonucleic acid
   isoforms of the human mineralocorticoid receptor in normal and
   pathological states
SO JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
LA English
DT Article
ID ALDOSTERONE BINDING; RAT-BRAIN; PSEUDOHYPOALDOSTERONISM; CORTICOSTERONE;
   HYPERTENSION; PROMOTERS; KIDNEY; CELLS; GENE
AB Expression of the mineralocorticoid receptor (MR) is restricted to some sodium-transporting epithelia and a few nonepithelial target tissues. Determination of the genomic structure of the human MR (hMR) revealed two different untranslated exons (1 alpha and 1 beta), which splice alternatively into the common exon 2, giving rise to two hMR mRNA isoforms (hMR alpha and hMR beta). We have investigated expression of hMR transcripts in renal, cardiac, skin, and colonic tissue samples by in situ hybridization with exon 1 alpha and 1 beta specific riboprobes, using an exon 2 probe as internal control. Specific signals for either exon 1 alpha- and 1 beta-containing mRNAs were detected in typically hMR-expressing cells in all tissues analyzed. hMR alpha and hMR beta were present in distal tubules of the kidney, in cardiomyocytes, in enterocytes of the colonic mucosa, and in keratinocytes and sweat glands. Interestingly, although both isoforms appear to be expressed at approximately the same level, the relative abundance of each message compared with that of exon a-containing mRNA strikingly differs among aldosterone target tissues, suggesting the possibility of other tissue-specific transcripts originating from alternative splicing. Finally, functional hypermineralocorticism was associated with reduced expression of hMR beta in sweat glands of two patients affected by Conn's and Liddle's syndrome, whereas normal levels of hMR isoforms were found in one case of pseudohypoaldosteronism. Altogether, our results indicate a differential, tissue-specific expression of hMR mRNA isoforms, hMR beta being down-regulated in situations of positive sodium balance, independently of aldosterone levels.
C1 UNIV PARIS 07, INST FEDERATIF RECH CELLULES EPITHELIALES, INSERM, U246, F-75870 PARIS 18, FRANCE.
   UNIV ANCONA, OSPED REG TORRETTE, CLIN ENDOCRINOL, I-60100 ANCONA, ITALY.
C3 Institut National de la Sante et de la Recherche Medicale (Inserm);
   Universite Paris Cite; Marche Polytechnic University
RI Lombes, Marc/L-5933-2018; Zennaro, Maria-Christina/IZP-8913-2023
OI Zennaro, Maria-Christina/0000-0001-5449-9191
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NR 28
TC 70
Z9 81
U1 0
U2 2
PU ENDOCRINE SOC
PI CHEVY CHASE
PA 8401 CONNECTICUT AVE, SUITE 900, CHEVY CHASE, MD 20815-5817 USA
SN 0021-972X
EI 1945-7197
J9 J CLIN ENDOCR METAB
JI J. Clin. Endocrinol. Metab.
PD MAY
PY 1997
VL 82
IS 5
BP 1345
EP 1352
DI 10.1210/jc.82.5.1345
PG 8
WC Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Endocrinology & Metabolism
GA WX551
UT WOS:A1997WX55100007
PM 9141514
DA 2025-04-10
ER

PT J
AU Farrell, DH
AF Farrell, David H.
TI γ′ Fibrinogen as a novel marker of thrombotic disease
SO CLINICAL CHEMISTRY AND LABORATORY MEDICINE
LA English
DT Review
DE cardiovascular disease; gamma ' fibrinogen; inflammation; risk marker;
   thromboembolism; thrombosis
ID CARDIOVASCULAR-DISEASES; THR312ALA POLYMORPHISM; HEPARIN-ANTITHROMBIN;
   ELEVATED FIBRINOGEN; SPLICE VARIANT; RISK-FACTORS; FACTOR-XIII; CHAIN;
   BINDING; ALPHA
AB gamma' Fibrinogen is an isoform of fibrinogen that normally constitutes about 7% of total plasma fibrinogen, and arises from an alternative processing event in the. chain mRNA. gamma' Fibrinogen is a newly-emerging cardiovascular disease (CVD) risk factor that appears to have an independent association with CVD from that of total fibrinogen, which is itself a well-established CVD risk factor. gamma' Fibrinogen shows a significant association with coronary artery disease and myocardial infarction in at least four case-control studies, including the Stockholm Coronary Artery Risk Factor study and the Framingham Heart Study. gamma' Fibrinogen is also significantly associated with stroke, as shown in the Erasmus Stroke Study and others. The role of genetic polymorphisms in the association between. gamma' brinogen and CVD is under active investigation. gamma' Fibrinogen increases during inflammation, and is differentially regulated from total fibrinogen under pathologic conditions, as demonstrated in the Periodontitis and Vascular Events study. The association between gamma' brinogen and venous thromboembolism remains unclear, however, with some studies showing an inverse association with gamma' fibrinogen levels and other studies showing the opposite.
C1 Oregon Hlth & Sci Univ, Div Cardiovasc Med, Dept Med, Sch Med, Portland, OR 97239 USA.
C3 Oregon Health & Science University
RP Farrell, DH (corresponding author), Oregon Hlth & Sci Univ, Div Cardiovasc Med, Dept Med, Sch Med, 3181 SW Sam Jackson Pk Rd, Portland, OR 97239 USA.
EM farrelld@ohsu.edu
FU NIH [1 R44HL104885]
FX Research funding: 1 R44HL104885 from the NIH.
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NR 55
TC 37
Z9 42
U1 0
U2 4
PU WALTER DE GRUYTER GMBH
PI BERLIN
PA GENTHINER STRASSE 13, D-10785 BERLIN, GERMANY
SN 1434-6621
EI 1437-4331
J9 CLIN CHEM LAB MED
JI Clin. Chem. Lab. Med.
PD NOV
PY 2012
VL 50
IS 11
BP 1903
EP 1909
DI 10.1515/cclm-2012-0005
PG 7
WC Medical Laboratory Technology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Medical Laboratory Technology
GA 032EJ
UT WOS:000310695300007
PM 23091268
OA Bronze
DA 2025-04-10
ER

PT J
AU Martin, V
   Bredoux, R
   Corvazier, E
   Papp, B
   Enouf, J
AF Martin, V
   Bredoux, R
   Corvazier, E
   Papp, B
   Enouf, J
TI Platelet Ca<SUP>2+</SUP> ATPases -: A plural, species-specific, and
   multiple hypertension-regulated expression system
SO HYPERTENSION
LA English
DT Article
DE platelets; calcium; Ca2+ ATPases; genes
ID PLASMA-MEMBRANE CA2+-ATPASE; TISSUE DISTRIBUTION; CALCIUM-ATPASE;
   SMOOTH-MUSCLE; 3 GENE; ISOFORM; PUMP; RAT; SERCA3; CELLS
AB Gaining insight into nonmuscle Ca2+ signaling requires basic knowledge of the major structures involved, We investigated the expression of platelet Ca(2+)ATPases in normal and hypertension-associated abnormal Ca2+ signaling. First, overall identification of normotensive Wistar-Kyoto rat Ca(2+)ATPases was attempted by looking for newly described human platelet 3'-end alternatively spliced sarco/endoplasmic reticulum Ca(2+)ATPases (SERCA) 3b mRNA and plasma membrane Ca(2+)ATPase (PMCA) 1b and 4b proteins, in addition to SERCA2b and SERCA3a isoforms, For SERCAs, comparative analyses of human and Wistar-Kyoto rat SERCA3 platelet mRNA by reverse transcription-polymerase chain reaction (RT-PCR) followed by sequencing established that human platelets coexpressed SERCA3b and a third SERCA3c, while rat cells were devoid of them but expressed a still unknown splice variant that we termed rSERCA3b/3c, Its identification using 3'-end SERCA3 gene and rapid amplification of cDNA ends (RACE)-PCR studies showed that it results from an additional SERCA3 alternative splicing process, which uses a second alternative polyadenylation site located in the last intron. For PMCAs, with the use of gene-specific RT-PCR followed by sequencing and Western blotting using 5F10 monoclonal antibody, expression of human and rat platelet PMCA1b and PMCA4b was similar. Second, comparative analysis of these newly identified Ca(2+)ATPases and SERCA3a in age-matched spontaneously hypertensive rat platelets demonstrated (1) a marked downregulation of rSERCA3b/3c, which became null, and a 1.71-fold increase in SERCA3a and (2) an opposite regulation of the 2 PMCAs, namely, a 3.3-fold decrease in PMCA1b mRNA and a 3.7-fold increase in PMCA4b mRNA, Hence, platelets coexpress multiple, diverse, and species-specific Ca(2+)ATPases, including a novel fourth SERCA3. Moreover, expression of PMCA (1b and 4b), SERCA3a, and rSERCA3b/3c was modulated in rat hypertension. Hence, Ca(2+)ATPases should be regarded as constituting a new rational basis for the understanding of nonmuscle cell Ca2+ signaling.
C1 Hop Lariboisiere, IFR Circulat Lariboisiere, U348 INSERM, 8 Rue Guy Patin, F-75475 Paris 10, France.
C3 Universite Paris Cite; Assistance Publique Hopitaux Paris (APHP);
   Hopital Universitaire Lariboisiere-Fernand-Widal - APHP; Institut
   National de la Sante et de la Recherche Medicale (Inserm)
RP Hop Lariboisiere, IFR Circulat Lariboisiere, U348 INSERM, 8 Rue Guy Patin, F-75475 Paris 10, France.
EM jocelyne.enouf@inserm.lrb.ap-hop-paris.fr
OI Papp, Bela/0000-0002-5025-3087
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NR 42
TC 43
Z9 46
U1 0
U2 3
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0194-911X
EI 1524-4563
J9 HYPERTENSION
JI Hypertension
PD JAN
PY 2000
VL 35
IS 1
BP 91
EP 102
DI 10.1161/01.HYP.35.1.91
PN 1
PG 12
WC Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cardiovascular System & Cardiology
GA 278QJ
UT WOS:000085000200016
PM 10642281
OA Bronze
DA 2025-04-10
ER

PT J
AU Worster, BM
   Yeoman, MS
   Benjamin, PR
AF Worster, BM
   Yeoman, MS
   Benjamin, PR
TI Matrix-assisted laser desorption/ionization time of flight mass
   spectrometric analysis of the pattern of peptide expression in single
   neurons resulting from alternative mRNA splicing of the FMRFamide gene
SO EUROPEAN JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE FMRFamide gene; matrix-assisted laser desorption/ionization time of
   flight mass spectrometry; precursor processing; snail neurons
ID SNAIL LYMNAEA-STAGNALIS; DESORPTION IONIZATION TIME; BAG CELL NEURONS;
   PHE-MET-ARG-PHE-NH2 FMRFAMIDE; NEUROPEPTIDE EXPRESSION; IDENTIFIED
   NEURONS; SECRETORY PATHWAY; PRECURSOR; BRAIN; PROHORMONE
AB MALDI-ToF MS (matrix-assisted laser desorption/ionization time of flight mass spectrometry) has become a fast, reliable and sensitive technique for the identification of neuropeptides in biological tissues. Here, we applied this technique to identified neurons of the cardioregulatory network in the snail Lymnaea that express the FMRFamide gene. This enabled us to study the complex processing of the FMRFamide gene at the level of single identified neurons. In the CNS of Lymnaea, FMRFamide-like and additional peptides are encoded by a common, multiexon gene. Alternate mRNA splicing of the FMRFamide gene leads to the production of two different mRNAs. Type 1 mRNA (exon II) encodes for the tetrapeptides (FLRF/FMRFamide), whereas Type 2 (exons III-V) encodes for the heptapeptides (SDPFLRFamide/GDPFLRFamide). Previous in situ hybridization and immunocytochemical studies indicated that these two transcripts are expressed in the CNS neurons of Lymnaea in a differential and mutually exclusive manner. Two single identified neurons of the cardiorespiratory network, the E-he neuron and the visceral white interneuron (VWI), were known to express the FMRFamide gene (Ehe, type 1 mRNA; VWI, type 2 mRNA), MALDI-ToF MS analysis of these neurons and other neurons expressing the FMRFamide gene confirmed the mutually exclusive expression of the distinct sets of peptides encoded on the two transcripts and revealed the pattern of post-translational processing of both protein precursors. From the gene sequence it was predicted that 16 final peptide products from the two precursor proteins could possibly exist. We showed that most of these peptides were indeed present in the identified neurons (13) while others were not (three), suggesting that not all of the potential cleavage sites within the two precursors are utilized. In this way, the neuronal expression of the full range of the peptide products resulting from alternative mRNA splicing was revealed for the first time.
C1 Univ Sussex, Sch Biol Sci, Sussex Ctr Neurosci, Brighton BN1 9QG, E Sussex, England.
C3 University of Sussex
RP Benjamin, PR (corresponding author), Univ Sussex, Sch Biol Sci, Sussex Ctr Neurosci, Brighton BN1 9QG, E Sussex, England.
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NR 32
TC 46
Z9 48
U1 0
U2 8
PU BLACKWELL SCIENCE LTD
PI OXFORD
PA P O BOX 88, OSNEY MEAD, OXFORD OX2 0NE, OXON, ENGLAND
SN 0953-816X
J9 EUR J NEUROSCI
JI Eur. J. Neurosci.
PD NOV
PY 1998
VL 10
IS 11
BP 3498
EP 3507
DI 10.1046/j.1460-9568.1998.00361.x
PG 10
WC Neurosciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Neurosciences & Neurology
GA 133EP
UT WOS:000076673700020
PM 9824463
DA 2025-04-10
ER

PT J
AU Holder, E
   Maeda, M
   Bies, RD
AF Holder, E
   Maeda, M
   Bies, RD
TI Expression and regulation of the dystrophin Purkinje promoter in human
   skeletal muscle, heart, and brain
SO HUMAN GENETICS
LA English
DT Article
ID DUCHENNE MUSCULAR-DYSTROPHY; DILATED CARDIOMYOPATHY; ALPHA-ACTININ;
   GENE; TRANSCRIPTS; DELETIONS; ISOFORMS; SEQUENCE; REGION; MEMBRANE
AB Dystrophin mRNA transcripts from the P (Purkinje) promoter were shown to be differentially expressed in human skeletal muscle, heart, and brain. The expression pattern was characteristic of tissue type and developmental stage. Polymerase chain reaction (PCR) analysis of the P promoter transcripts in adult skeletal muscle and adult brain identified two alternatively spliced sequences, one that encodes a full-length dystrophin mRNA and a second that transcribes a termination codon 27 nucleotides (8 amino acids) after the ATG initiation site. Alternative splicing of this truncated coding transcript was developmentally regulated, and it was expressed as the major form in adult cortical brain and adult heart. The biological significance of this peptide remains unclear. The full-length transcript was the major form in fetal cortical brain and adult skeletal muscle. Ribonuclease protection assay demonstrated that as much as 20% of dystrophin transcription in normal adult skeletal muscle was derived from the full-length transcript from the P promoter. In contrast, adult heart did not express significant levels of P promoter derived transcripts. Thus, transcripts from the P promoter were found to be developmentally regulated in the brain, and its activity was differentially expressed in skeletal verses cardiac muscle tissues. These data shaw that the P promoter transcript displays a broader scope of expression, regulation, and complexity than previously appreciated.
C1 UNIV COLORADO,HLTH SCI CTR,TEMPLE HOYNE BUELL LABS,DIV CARDIOL,DENVER,CO 80220.
   VET ADM MED CTR,DENVER,CO 80220.
C3 University of Colorado System; University of Colorado Denver; University
   of Colorado Anschutz Medical Campus; US Department of Veterans Affairs;
   Veterans Health Administration (VHA)
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NR 38
TC 57
Z9 64
U1 0
U2 0
PU SPRINGER VERLAG
PI NEW YORK
PA 175 FIFTH AVE, NEW YORK, NY 10010
SN 0340-6717
J9 HUM GENET
JI Hum. Genet.
PD FEB
PY 1996
VL 97
IS 2
BP 232
EP 239
DI 10.1007/BF02265272
PG 8
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA TR669
UT WOS:A1996TR66900020
PM 8566960
DA 2025-04-10
ER

PT J
AU Lu, B
   Kelher, MR
   Lee, DP
   Lewin, TM
   Coleman, RA
   Choy, PC
   Hatch, GM
AF Lu, B
   Kelher, MR
   Lee, DP
   Lewin, TM
   Coleman, RA
   Choy, PC
   Hatch, GM
TI Complex expression pattern of the Barth syndrome gene product tafazzin
   in human cell lines and murine tissues
SO BIOCHEMISTRY AND CELL BIOLOGY
LA English
DT Article
DE cardiolipin; murine; heart; Barth Syndrome; phospholipid;
   acyltransferase; tafazzin
ID LEFT-VENTRICULAR NONCOMPACTION; X-LINKED GENE; TAZ G4.5 GENE;
   3-METHYLGLUTACONIC ACIDURIA; DILATED CARDIOMYOPATHY; SKELETAL-MUSCLE;
   MUTATION; NEUTROPENIA; CARDIOLIPIN; MITOCHONDRIA
AB Tafazzins, a group of proteins that are defective in patients with Barth syndrome, are produced by alternate splicing of the gene G4.5 or TAZ. RT-PCR and transcription-coupled in vitro translation analysis were undertaken to determine the expression of alternatively spliced TAZ mRNA in mouse tissues and human cell lines. Only two tafazzin transcripts, both lacking exon 5, were expressed in murine tissues, whereas four tafazzin transcripts, all lacking exon 5, were observed in human umbilical vein vascular endothelial cells and U937 human monoblasts indicating a species-specific difference in the expression of TAZ mRNAs in mouse and humans. Only TAZ lacking exon 5 was expressed in murine heart. Differentiation of U937 human monoblasts into macrophages did not alter expression of the tafazzin transcripts indicating that TAZ expression is independent of monocyte differentiation. Cloning and in vitro expression of both murine and human tafazzin cDNA revealed two prominent protein bands that corresponded to the expected sizes of alternative translation. A novel fifth motif, identified as critical for the glycerolphosphate acyltransferase family, was observed in human tafazzin. The presence of a mutation in this region in Barth syndrome patients indicates that this motif is essential for tafazzin function.
C1 Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB R3E 0T6, Canada.
   Univ N Carolina, Dept Nutr, Chapel Hill, NC 27599 USA.
C3 University of Manitoba; University of North Carolina; University of
   North Carolina Chapel Hill
RP Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB R3E 0T6, Canada.
EM hatchgm@ms.umanitoba.ca
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NR 25
TC 22
Z9 30
U1 0
U2 2
PU CANADIAN SCIENCE PUBLISHING
PI OTTAWA
PA 65 AURIGA DR, SUITE 203, OTTAWA, ON K2E 7W6, CANADA
SN 0829-8211
EI 1208-6002
J9 BIOCHEM CELL BIOL
JI Biochem. Cell Biol.
PD OCT
PY 2004
VL 82
IS 5
BP 569
EP 576
DI 10.1139/O04-055
PG 8
WC Biochemistry & Molecular Biology; Cell Biology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Cell Biology
GA 867TE
UT WOS:000224864400005
PM 15499385
DA 2025-04-10
ER

PT J
AU Long, Y
   Li, XX
   Li, FY
   Ge, GD
   Liu, R
   Song, GL
   Li, Q
   Qiao, ZG
   Cui, ZB
AF Long, Yong
   Li, Xixi
   Li, Fengyang
   Ge, Guodong
   Liu, Ran
   Song, Guili
   Li, Qing
   Qiao, Zhigang
   Cui, Zongbin
TI Transcriptional Programs Underlying Cold Acclimation of Common Carp
   (Cyprinus carpioL.)
SO FRONTIERS IN GENETICS
LA English
DT Article
DE cold acclimation; common carp; stress response; transcriptional program;
   gene expression; genetic diversity; alternative splicing
ID TEMPERATURE TOLERANCE; GENE-EXPRESSION; RNA LOCALIZATION; CHOLESTEROL;
   ANNOTATION; RESISTANCE; CYTOSCAPE; RESPONSES; PATHWAY; BRAIN
AB Properly regulated transcriptional responses to environmental perturbations are critical for the fitness of fish. Although gene expression profiles in the tissues of common carp upon cold stress were previously characterized, the transcriptional programs underlying cold acclimation are still not well known. In this study, the ability of three common carp strains including Hebao red carp (HB), Songpu mirror carp (SPM) and Yellow river carp (YR) to establish cold resistance after acclimation to a mild hypothermia stress at 18 degrees C for 24 h was confirmed by measurements of the critical thermal minimums (CTMin). The gene expression profiles of the brain and the heart from these strains under both control and cold-acclimated conditions were characterized with RNA-sequencing. The data of the three common carp strains with different genetic background were combined in the differential gene expression analyses to balance the effects of genetic diversity on gene expression. Marked effects of tissue origins on the cold-induced transcriptional responses were revealed by comparing the differentially expressed gene (DEG) lists of the two tissues. Functional categories including spliceosome and RNA splicing were highly enriched in the DEGs of both tissues. However, steroid biosynthesis was specifically enriched in DEGs of the brain and response to unfolded protein was solely enriched in DEGs of the heart. Consistent with the up-regulation of the genes involved in cholesterol biosynthesis, total cholesterol content of the brain was significantly increased upon cold stress. Moreover, cold-induced alternative splicing (AS) events were explored and AS of therbmx(RNA-binding motif protein, X chromosome) gene was confirmed by real-time quantitative PCR. Finally, a core set of cold responsive genes (CRGs) were defined by comparative transcriptomic analyses. Our data provide insights into the transcriptional programs underlying cold acclimation of common carp and offer valuable clues for further investigating the genetic determinants for cold resistance of farmed fish.
C1 [Long, Yong; Li, Xixi; Li, Fengyang; Ge, Guodong; Liu, Ran; Song, Guili; Li, Qing; Cui, Zongbin] Chinese Acad Sci, Inst Hydrobiol, State Key Lab Freshwater Ecol & Biotechnol, Wuhan, Peoples R China.
   [Li, Xixi; Ge, Guodong] Univ Chinese Acad Sci, Beijing, Peoples R China.
   [Li, Xixi; Ge, Guodong; Cui, Zongbin] Guangdong Acad Sci, Guangdong Inst Microbiol, State Key Lab Appl Microbiol Southern China, Guangdong Prov Key Lab Microbial Culture Collect, Guangzhou, Peoples R China.
   [Li, Fengyang; Liu, Ran] Dalian Ocean Univ, Coll Fisheries & Life Sci, Dalian, Peoples R China.
   [Qiao, Zhigang] Henan Normal Univ, Fisheries Coll, Xinxiang, Henan, Peoples R China.
C3 Chinese Academy of Sciences; Institute of Hydrobiology, CAS; Chinese
   Academy of Sciences; University of Chinese Academy of Sciences, CAS;
   Guangdong Academy of Sciences; Institute of Microbiology, Guangdong
   Academy of Sciences; Dalian Ocean University; Henan Normal University
RP Cui, ZB (corresponding author), Chinese Acad Sci, Inst Hydrobiol, State Key Lab Freshwater Ecol & Biotechnol, Wuhan, Peoples R China.; Cui, ZB (corresponding author), Guangdong Acad Sci, Guangdong Inst Microbiol, State Key Lab Appl Microbiol Southern China, Guangdong Prov Key Lab Microbial Culture Collect, Guangzhou, Peoples R China.
EM zbcui@ihb.ac.cn
RI Guodong, Ge/HHZ-6871-2022
OI Liu, Ran/0000-0002-2113-9111
FU National Key R&D Program of China [2018YFD0900302-2]; National Natural
   Science Foundation of China [31772836, 31572610, 31721005]; Youth
   Innovation Promotion Association of Chinese Academy of Sciences
   [2016305]
FX This work was financially supported by the National Key R&D Program of
   China (2018YFD0900302-2), the National Natural Science Foundation of
   China (31772836, 31572610, 31721005), and the Youth Innovation Promotion
   Association of Chinese Academy of Sciences (2016305). The funders played
   no role in the design of the study and collection, analysis, and
   interpretation of data and preparation of the manuscript.
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NR 64
TC 25
Z9 28
U1 1
U2 23
PU FRONTIERS MEDIA SA
PI LAUSANNE
PA AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND
EI 1664-8021
J9 FRONT GENET
JI Front. Genet.
PD SEP 23
PY 2020
VL 11
AR 556418
DI 10.3389/fgene.2020.556418
PG 18
WC Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Genetics & Heredity
GA NX1NE
UT WOS:000575483000001
PM 33173532
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Joehanes, R
   Ying, SX
   Huan, TX
   Johnson, AD
   Raghavachari, N
   Wang, R
   Liu, PC
   Woodhouse, KA
   Sen, SK
   Tanriverdi, K
   Courchesne, P
   Freedman, JE
   O'Donnell, CJ
   Levy, D
   Munson, PJ
AF Joehanes, Roby
   Ying, Saixia
   Huan, Tianxiao
   Johnson, Andrew D.
   Raghavachari, Nalini
   Wang, Richard
   Liu, Poching
   Woodhouse, Kimberly A.
   Sen, Shurjo K.
   Tanriverdi, Kahraman
   Courchesne, Paul
   Freedman, Jane E.
   O'Donnell, Christopher J.
   Levy, Daniel
   Munson, Peter J.
TI Gene Expression Signatures of Coronary Heart Disease
SO ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
LA English
DT Article
DE biomarkers; coronary artery disease; coronary heart disease; gene
   expression; myocardial infarction; transcriptomics
ID UBIQUITIN-PROTEASOME SYSTEM; GENOME-WIDE ASSOCIATION; BLOOD
   MONONUCLEAR-CELLS; ARTERY-DISEASE; GRANZYME-B; WHOLE-BLOOD; APOPTOSIS;
   PROTEIN; UPDATE; EXTENT
AB Objective-To identify transcriptomic biomarkers of coronary heart disease (CHD) in 188 cases with CHD and 188 age-and sex-matched controls who were participants in the Framingham Heart Study.
   Approach and Results-A total of 35 genes were differentially expressed in cases with CHD versus controls at false discovery rate< 0.5, including GZMB, TMEM56, and GUK1. Cluster analysis revealed 3 gene clusters associated with CHD, 2 linked to increased erythrocyte production and a third to reduced natural killer and T cell activity in cases with CHD. Exon-level results corroborated and extended the gene-level results. Alternative splicing analysis suggested that GUK1 and 38 other genes were differentially spliced in cases with CHD versus controls. Gene Ontology analysis linked ubiquitination and T-cell-related pathways with CHD.
   Conclusions-Two bioinformatically defined groups of genes show consistent associations with CHD. Our findings are consistent with the hypotheses that hematopoesis is upregulated in CHD, possibly reflecting a compensatory mechanism, and that innate immune activity is disrupted in CHD or altered by its treatment. Transcriptomic signatures may be useful in identifying pathways associated with CHD and point toward novel therapeutic targets for its treatment and prevention.
C1 [Joehanes, Roby; Huan, Tianxiao; Johnson, Andrew D.; Courchesne, Paul; O'Donnell, Christopher J.; Levy, Daniel] NHLBI Framingham Heart Study, Framingham, MA USA.
   [Joehanes, Roby; Huan, Tianxiao; Johnson, Andrew D.; Courchesne, Paul; O'Donnell, Christopher J.; Levy, Daniel] NHLBI, Ctr Populat Studies, Bethesda, MD 20892 USA.
   [Joehanes, Roby; Ying, Saixia; Munson, Peter J.] NIH, Math & Stat Comp Lab, Ctr Informat Technol, Bethesda, MD 20892 USA.
   [Raghavachari, Nalini; Wang, Richard; Liu, Poching; Woodhouse, Kimberly A.] NHLBI, DNA Sequencing & Genom Core, Genet & Dev Biol Ctr, NIH, Bethesda, MD 20892 USA.
   [Sen, Shurjo K.] NHGRI, NIH, Bethesda, MD 20892 USA.
   [Tanriverdi, Kahraman; Freedman, Jane E.] Univ Massachusetts, Sch Med, High Throughput Gene Express Biomarker Core, Worcester, MA USA.
   [O'Donnell, Christopher J.] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Div Cardiol, Boston, MA USA.
C3 Framingham Heart Study; National Institutes of Health (NIH) - USA; NIH
   National Heart Lung & Blood Institute (NHLBI); National Institutes of
   Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI);
   National Institutes of Health (NIH) - USA; NIH Center for Information
   Technology (CIT); National Institutes of Health (NIH) - USA; NIH
   National Heart Lung & Blood Institute (NHLBI); National Institutes of
   Health (NIH) - USA; NIH National Human Genome Research Institute
   (NHGRI); University of Massachusetts System; University of Massachusetts
   Worcester; Harvard University; Harvard University Medical Affiliates;
   Massachusetts General Hospital; Harvard Medical School
RP Munson, PJ (corresponding author), Ctr Informat Technol, Math & Stat Comp Lab, NIH Bldg 12A,Room 2039, Bethesda, MD 20892 USA.
EM Levyd@NIH.Gov; Munson@helix.nih.gov
RI Huan, Tianxiao/AAF-3577-2021; Johnson, Andrew/G-6520-2013; Levy,
   Daniel/ABB-2752-2021; O'Donnell, Christopher/ABT-1150-2022; Freedman,
   Jane/KLC-3446-2024
OI Levy, Daniel/0000-0003-1843-8724; Freedman, Jane/0000-0002-0011-6164;
   Johnson, Andrew/0000-0001-6369-5178
FU Center for Population Studies; Boston University School of Medicine;
   National Heart, Lung, and Blood Institute [N01-HC-25195]; Intramural
   Research Programs of the National Heart, Lung, and Blood Institute, the
   Center for Information Technology of the National Institutes of Health
FX This work was supported by funds from the Center for Population Studies
   and the Intramural Research Programs of the National Heart, Lung, and
   Blood Institute, the Center for Information Technology of the National
   Institutes of Health, and from Boston University School of Medicine. The
   Framingham Heart Study is supported by National Heart, Lung, and Blood
   Institute contract N01-HC-25195.
CR [Anonymous], ARTERIOSCLER THROMB
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NR 47
TC 91
Z9 97
U1 1
U2 19
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 1079-5642
EI 1524-4636
J9 ARTERIOSCL THROM VAS
JI Arterioscler. Thromb. Vasc. Biol.
PD JUN
PY 2013
VL 33
IS 6
BP 1418
EP +
DI 10.1161/ATVBAHA.112.301169
PG 37
WC Hematology; Peripheral Vascular Disease
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Hematology; Cardiovascular System & Cardiology
GA 146UR
UT WOS:000319119500044
PM 23539218
OA Green Accepted
DA 2025-04-10
ER

PT J
AU Huang, QX
   Yao, Y
   Wang, YS
   Li, J
   Chen, JJ
   Wu, MX
   Guo, C
   Lou, J
   Yang, WZ
   Zhao, LH
   Tong, XL
   Zhao, DQ
   Li, XY
AF Huang, Qingxia
   Yao, Yao
   Wang, Yisa
   Li, Jing
   Chen, Jinjin
   Wu, Mingxia
   Guo, Chen
   Lou, Jia
   Yang, Wenzhi
   Zhao, Linhua
   Tong, Xiaolin
   Zhao, Daqing
   Li, Xiangyan
TI Ginsenoside Rb2 inhibits p300-mediated SF3A2 acetylation at lysine 10 to
   promote Fscn1 alternative splicing against myocardial ischemic/
   reperfusion injury
SO JOURNAL OF ADVANCED RESEARCH
LA English
DT Article
DE Ginsenoside; Acetylation; P300; Mitochondrial function; Myocardial
   ischemic/reperfusion injury
ID HISTONE MODIFICATIONS; MITOCHONDRIAL; PHOSPHORYLATION; METABOLISM;
   COMPLEX
AB Introduction: Ginsenosides (GS) derived from Panax ginseng can regulate protein acetylation to promote mitochondrial function for protecting cardiomyocytes. However, the potential mechanisms of GS for regulating acetylation modification are not yet clear. Objectives: This study aimed to explore the potential mechanisms of GS in regulating protein acetylation and identify ginsenoside monomer for fighting myocardial ischemia-related diseases. Methods: The 4D-lable free acetylomic analysis was employed to gain the acetylated proteins regulated by GS pretreatment. The co-immunoprecipitation assay, immunofluorescent staining, and mitochondrial respiration measurement were performed to detect the effect of GS or ginsenoside monomer on acetylated protein level and mitochondrial function. RNA sequencing, site-specific mutation, and shRNA interference were used to explore the downstream targets of acetylation modificationby GS. Cellular thermal shift assay and surface plasmon resonance were used for identifying the binding of ginsenoside with target protein. Results: In the cardiomyocytes of normal, oxygen glucose deprivation and/or reperfusion conditions, the acetylomic analysis identified that the acetylated levels of spliceosome proteins were inhibited by GS pretreatment and SF3A2 acetylation at lysine 10 (K10) was significantly decreased as a potential target of GS. Ginsenoside Rb2 was identified as one of the active ginsenoside monomers for reducing the acetylation of SF3A2 (K10), K 10), which enhanced mitochondrial respiration against myocardial ischemic injury in in vivo and in vitro experiments. RNA-seq analysis showed that ginsenoside Rb2 promoted alternative splicing of mitochondrial function-related genes and the level of fascin actin-bundling protein 1 (Fscn1) was obviously upregulated, which was dependent on SF3A2 acetylation. Critically, thermodynamic, kinetic and enzymatic experiments demonstrated that ginsenoside Rb2 directly interacted with p300 for inhibiting its activity. Conclusion: These findings provide a novel mechanism underlying cardiomyocyte protection of ginsenoside Rb2 by inhibiting p300-mediated SF3A2 acteylation for promoting Fscn1 expression, which might be a promising approach for the prevention and treatment of myocardial ischemic diseases. (c) 2024 The Authors. Published by Elsevier B.V. on behalf of Cairo University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
C1 [Huang, Qingxia] Changchun Univ Chinese Med, Coll Tradit Chinese Med, Res Ctr Tradit Chinese Med, Changchun 130021, Jilin, Peoples R China.
   [Huang, Qingxia; Yao, Yao; Wang, Yisa; Li, Jing; Chen, Jinjin; Wu, Mingxia; Guo, Chen; Zhao, Daqing; Li, Xiangyan] Changchun Univ Chinese Med, Northeast Asia Res Inst Tradit Chinese Med, Key Lab Act Subst & Biol Mech Ginseng Efficacy, Jilin Prov Key Lab Biomacromol Chinese Med,Minist, Changchun 130117, Jilin, Peoples R China.
   [Lou, Jia; Yang, Wenzhi] Tianjin Univ Tradit Chinese Med, State Key Lab Component Based Chinese Med, Tianjin Key Lab TCM Chem & Anal, Tianjin 301617, Peoples R China.
   [Zhao, Linhua; Tong, Xiaolin; Zhao, Daqing; Li, Xiangyan] Changchun Univ Chinese Med, Northeast Asia Res Inst Tradit Chinese Med, Changchun 130117, Jilin, Peoples R China.
C3 Changchun University of Chinese Medicine; Changchun University of
   Chinese Medicine; Tianjin University of Traditional Chinese Medicine;
   Changchun University of Chinese Medicine
RP Tong, XL; Zhao, DQ; Li, XY (corresponding author), Changchun Univ Chinese Med, Northeast Asia Res Inst Tradit Chinese Med, Changchun 130117, Jilin, Peoples R China.
EM tongxiaolin@vip.163.com; zhaodaqing1963@163.com; xiangyan_li1981@163.com
FU National Natural Science Foun-dation of China, China [82374078,
   U19A2013]; Science and Technology Development Plan Project of Jilin
   Province, China [YDZJ202201ZYTS270]; Youth Excellent Discipline Talent
   Training Project, China [202331]; Innovation and Entrepreneurship Talent
   Funding Project of Jilin Province, China [2022ZY10]
FX <BOLD>Acknowledgements</BOLD> This work was supported by the National
   Natural Science Foun-dation of China, China (Grant No. 82374078 and
   U19A2013) ; Science and Technology Development Plan Project of Jilin
   Province, China (Grant No. YDZJ202201ZYTS270) , Youth Excellent
   Discipline Talent Training Project, China (Grant No. 202331) , and
   Innovation and Entrepreneurship Talent Funding Project of Jilin
   Province, China (2022ZY10) .
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NR 37
TC 9
Z9 9
U1 22
U2 37
PU ELSEVIER
PI AMSTERDAM
PA RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS
SN 2090-1232
EI 2090-1224
J9 J ADV RES
JI J. Adv. Res.
PD NOV
PY 2024
VL 65
BP 365
EP 379
DI 10.1016/j.jare.2023.12.012
EA OCT 2024
PG 15
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA J7O6M
UT WOS:001338922200001
PM 38101749
OA gold, Green Published
DA 2025-04-10
ER

PT J
AU Sen, SK
   Barb, JJ
   Cherukuri, PF
   Accame, DS
   Elkahloun, AG
   Singh, LN
   Lee-Lin, SQ
   Kolodgie, FD
   Cheng, Q
   Zhao, XQ
   Chen, MY
   Arai, AE
   Green, ED
   Mullikin, JC
   Munson, PJ
   Biesecker, LG
AF Sen, Shurjo K.
   Barb, Jennifer J.
   Cherukuri, Praveen F.
   Accame, David S.
   Elkahloun, Abdel G.
   Singh, Larry N.
   Lee-Lin, Shih-Queen
   Kolodgie, Frank D.
   Cheng, Qi
   Zhao, XiaoQing
   Chen, Marcus Y.
   Arai, Andrew E.
   Green, Eric D.
   Mullikin, James C.
   Munson, Peter J.
   Biesecker, Leslie G.
CA NISC Comparative Sequencing
TI Identification of candidate genes involved in coronary artery
   calcification by transcriptome sequencing of cell lines
SO BMC GENOMICS
LA English
DT Article
DE Coronary artery calcification; RNA-Seq; Lymphoblastoid cell lines;
   Transcriptome profiling
ID GENOME-WIDE ASSOCIATION; 2010 ACCF/AHA GUIDELINE; INTIMA-MEDIA
   THICKNESS; RNA-SEQ; DIFFERENTIAL EXPRESSION; ATHEROSCLEROSIS MESA;
   ASYMPTOMATIC ADULTS; CARDIOVASCULAR RISK; TASK-FORCE; DISEASE
AB Background: Massively-parallel cDNA sequencing (RNA-Seq) is a new technique that holds great promise for cardiovascular genomics. Here, we used RNA-Seq to study the transcriptomes of matched coronary artery disease cases and controls in the ClinSeq (R) study, using cell lines as tissue surrogates.
   Results: Lymphoblastoid cell lines (LCLs) from 16 cases and controls representing phenotypic extremes for coronary calcification were cultured and analyzed using RNA-Seq. All cell lines were then independently re-cultured and along with another set of 16 independent cases and controls, were profiled with Affymetrix microarrays to perform a technical validation of the RNA-Seq results. Statistically significant changes (p < 0.05) were detected in 186 transcripts, many of which are expressed at extremely low levels (5-10 copies/cell), which we confirmed through a separate spike-in control RNA-Seq experiment. Next, by fitting a linear model to exon-level RNA-Seq read counts, we detected signals of alternative splicing in 18 transcripts. Finally, we used the RNA-Seq data to identify differential expression (p < 0.0001) in eight previously unannotated regions that may represent novel transcripts. Overall, differentially expressed genes showed strong enrichment (p = 0.0002) for prior association with cardiovascular disease. At the network level, we found evidence for perturbation in pathways involving both cardiovascular system development and function as well as lipid metabolism.
   Conclusions: We present a pilot study for transcriptome involvement in coronary artery calcification and demonstrate how RNA-Seq analyses using LCLs as a tissue surrogate may yield fruitful results in a clinical sequencing project. In addition to canonical gene expression, we present candidate variants from alternative splicing and novel transcript detection, which have been unexplored in the context of this disease.
C1 [Sen, Shurjo K.; Cherukuri, Praveen F.; Accame, David S.; Elkahloun, Abdel G.; Singh, Larry N.; Lee-Lin, Shih-Queen; Green, Eric D.; Mullikin, James C.; Biesecker, Leslie G.; NISC Comparative Sequencing] NHGRI, NIH, Bethesda, MD 20892 USA.
   [Barb, Jennifer J.; Munson, Peter J.] NIH, Math & Stat Comp Lab, Ctr Informat Technol, Bethesda, MD 20892 USA.
   [Kolodgie, Frank D.; Cheng, Qi; Zhao, XiaoQing] CVPath Inst Inc, Gaithersburg, MD 20878 USA.
   [Chen, Marcus Y.; Arai, Andrew E.] NHLBI, NIH, Bethesda, MD 20892 USA.
C3 National Institutes of Health (NIH) - USA; NIH National Human Genome
   Research Institute (NHGRI); National Institutes of Health (NIH) - USA;
   NIH Center for Information Technology (CIT); CVPath Institute; National
   Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood
   Institute (NHLBI)
RP Biesecker, LG (corresponding author), NHGRI, NIH, Bethesda, MD 20892 USA.
EM lesb@mail.nih.gov
RI Barb, Jennifer/KCZ-2273-2024; Cherukuri, Praveen/AFU-2005-2022; Singh,
   Larry/AAG-6880-2021; Singh, Larry/R-6838-2017
OI Arai, Andrew E/0000-0002-5413-1466; Singh, Larry/0000-0002-2478-5864;
   Barb, Jennifer/0000-0003-3022-0154
FU Intramural Research Program of the National Institutes of Health
FX The authors thank Peter Chines, Nancy Hansen, Jamie Teer, and Aaron
   Quinlan for computational analyses, Robert Blakesley, Alice Young,
   Michael Erdos, Marjorie Lindhurst, Jacquelyn Idol, and Jennifer Johnston
   for help with experimental procedures, Julia Fekecs for help with
   preparing high-resolution graphics, Soma Chowdhury for proofreading, and
   Flavia Facio, David Ng, Clesson Turner, and the ClinSeq (R) clinical
   support and nursing staff for their help with the clinical aspects of
   this study. We thank Eric Olivares and the SEQanswers community
   (http://SEQanswers.com) for providing valuable advice. Above all, we are
   grateful to the many participants of the ClinSeq (R) study. This study
   is supported by funds from the Intramural Research Program of the
   National Institutes of Health.
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NR 32
TC 7
Z9 7
U1 1
U2 19
PU BMC
PI LONDON
PA CAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-2164
J9 BMC GENOMICS
JI BMC Genomics
PD MAR 14
PY 2014
VL 15
AR 198
DI 10.1186/1471-2164-15-198
PG 12
WC Biotechnology & Applied Microbiology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biotechnology & Applied Microbiology; Genetics & Heredity
GA AD8QB
UT WOS:000333529600007
PM 24628908
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Adolph, KW
AF Adolph, KW
TI Detection of exon skipping and retained introns in transcription of the
   human thrombospondin 2 gene
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
ID OLIGOMERIC MATRIX PROTEIN; FAMILY; EXPRESSION; SEQUENCE; BINDING;
   MEMBER; CELLS; PSEUDOACHONDROPLASIA; ANGIOGENESIS; LOCALIZATION
AB Alternative transcripts of the gene for human thrombospondin 2 (TSP2), an extracellular glycoprotein, have been identified using a PCR procedure. Species that show exon skipping and/or retained introns were revealed. In particular, a species was characterized in which exon 3 has been spliced from the sequence. This transcript is otherwise intact from exon 1A to exon 22. Transcripts which retain intron IA, intron 1B, or intron 2 were also identified. Tissue specific differences were evident in the transcripts with retained introns, In addition, a species which both retained intron 1B and skipped exon 3 was revealed. The existence of these alternative transcripts of the human TSP2 gene could be important for understanding the diverse functions and tissue-specific expression implicated for TSP2. (C) 1999 Academic Press.
C1 Univ Minnesota, Dept Biochem Mol Biol & Biophys, Minneapolis, MN 55455 USA.
C3 University of Minnesota System; University of Minnesota Twin Cities
RP Adolph, KW (corresponding author), Univ Minnesota, Dept Biochem Mol Biol & Biophys, 4-225 Millard Hall, Minneapolis, MN 55455 USA.
RI Adolph, Kenneth/KPB-4198-2024
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NR 33
TC 7
Z9 9
U1 0
U2 3
PU ACADEMIC PRESS INC
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD JUN 16
PY 1999
VL 259
IS 3
BP 527
EP 532
DI 10.1006/bbrc.1999.0812
PG 6
WC Biochemistry & Molecular Biology; Biophysics
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Biophysics
GA 208XC
UT WOS:000081016300005
PM 10364452
DA 2025-04-10
ER

PT J
AU Huang, MM
   Akerberg, AA
   Zhang, XR
   Yoon, HJ
   Joshi, S
   Hallinan, C
   Nguyen, C
   Pu, WT
   Haigis, MC
   Burns, CG
   Burns, CE
AF Huang, Mengmeng
   Akerberg, Alexander A.
   Zhang, Xiaoran
   Yoon, Haejin
   Joshi, Shakchhi
   Hallinan, Celia
   Nguyen, Christopher
   Pu, William T.
   Haigis, Marcia C.
   Burns, C. Geoffrey
   Burns, Caroline E.
TI Intrinsic myocardial defects underlie an Rbfox-deficient zebrafish model
   of hypoplastic left heart syndrome
SO NATURE COMMUNICATIONS
LA English
DT Article
ID DE-NOVO MUTATIONS; OUTFLOW TRACT; DISEASE; EXPRESSION; VARIANTS;
   RECURRENCE; GENES
AB Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of left sided structures including the ventricle, valves, and aorta. Prevailing paradigm suggests that HLHS is a multigenic disease of co-occurring phenotypes. Here, we report that zebrafish lacking two orthologs of the RNA binding protein RBFOX2, a gene linked to HLHS in humans, display cardiovascular defects overlapping those in HLHS patients including ventricular, valve, and aortic deficiencies. In contrast to current models, we demonstrate that these structural deficits arise secondary to impaired pump function as these phenotypes are rescued when Rbfox is specifically expressed in the myocardium. Mechanistically, we find diminished expression and alternative splicing of sarcomere and mitochondrial components that compromise sarcomere assembly and mitochondrial respiration, respectively. Injection of human RBFOX2 mRNA restores cardiovascular development in rbfox mutant zebrafish, while HLHS-linked RBFOX2 variants fail to rescue. This work supports an emerging paradigm for HLHS pathogenesis that centers on myocardial intrinsic defects.
C1 [Huang, Mengmeng; Akerberg, Alexander A.; Zhang, Xiaoran; Hallinan, Celia; Pu, William T.; Burns, C. Geoffrey; Burns, Caroline E.] Boston Childrens Hosp, Dept Cardiol, Div Basic & Translat Cardiovasc Res, Boston, MA 02115 USA.
   [Huang, Mengmeng; Akerberg, Alexander A.; Zhang, Xiaoran; Nguyen, Christopher; Pu, William T.; Burns, C. Geoffrey; Burns, Caroline E.] Harvard Med Sch, Boston, MA 02115 USA.
   [Yoon, Haejin; Joshi, Shakchhi; Haigis, Marcia C.] Harvard Med Sch, Blavatnik Inst, Dept Cell Biol, Boston, MA 02115 USA.
   [Nguyen, Christopher] Massachusetts Gen Hosp, Cardiovasc Res Ctr, Charlestown, MA 02129 USA.
   [Nguyen, Christopher] Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA 02129 USA.
   [Pu, William T.; Burns, Caroline E.] Harvard Stem Cell Inst, Cambridge, MA 02138 USA.
   [Yoon, Haejin] Ulsan Natl Inst Sci & Technol, Dept Biol Sci, Ulsan 44919, South Korea.
   [Nguyen, Christopher] Cleveland Clin, Cardiovasc Innovat Res Ctr, Heart Vasc & Thorac Inst, Cleveland, OH 44194 USA.
C3 Harvard University; Harvard University Medical Affiliates; Boston
   Children's Hospital; Harvard University; Harvard Medical School; Harvard
   University; Harvard Medical School; Harvard University; Harvard
   University Medical Affiliates; Massachusetts General Hospital; Harvard
   University; Ulsan National Institute of Science & Technology (UNIST);
   Cleveland Clinic Foundation
RP Burns, CG; Burns, CE (corresponding author), Boston Childrens Hosp, Dept Cardiol, Div Basic & Translat Cardiovasc Res, Boston, MA 02115 USA.; Burns, CG; Burns, CE (corresponding author), Harvard Med Sch, Boston, MA 02115 USA.; Burns, CE (corresponding author), Harvard Stem Cell Inst, Cambridge, MA 02138 USA.
EM Geoff.Burns@childrens.harvard.edu; Caroline.Burns@childrens.harvard.edu
RI Pu, William/AAJ-8301-2020; Huang, Mengmeng/GLQ-9308-2022
OI Joshi, Shakchhi/0000-0002-3120-7659; Huang,
   Mengmeng/0000-0002-2265-3489; Harding Hallinan,
   Celia/0000-0001-8137-7763
FU American Heart Association [21POST834347, 20POST35110027]; National
   Institutes of Health (NIH) [T32HL007208, R01 HL146634, R01 DK127278];
   R35 NIH award [HL135831]; Peer-Reviewed Medical Research Program (PRMRP)
   Department of Defense award [W81XWH-20-1-0165]; Boston Children's
   Hospital Department of Cardiology; National Heart Lung and Blood
   Institute [R01HL146634, R01HL139806] Funding Source: NIH RePORTER;
   American Heart Association (AHA) [20POST35110027] Funding Source:
   American Heart Association (AHA)
FX We thank the Boston Children's Hospital Aquatics team for their care of
   the zebrafish. Light sheet fluorescence microscopy was performed at the
   Harvard Center for Biological Imaging (HCBI). We thank Sharon Amacher
   and Tom Gallagher (The Ohio State University) for providing
   anti-zebrafish Rbfox1l and Rbfox2 antibodies. Sanger sequencing and DNA
   fragment analysis were performed at the Massachusetts General Hospital
   Computational and Integrative Biology DNA Core (Director: Amy Avery).
   Funding Information: M.H. and A.A.A. are supported by American Heart
   Association postdoctoral fellowships (21POST834347 and 20POST35110027,
   respectively). A.A.A. was also supported by a National Institutes of
   Health (NIH) training grant awarded to Massachusetts General Hospital
   (MGH) (T32HL007208; PI: A. Rosenzweig). W.T.P. was supported by NIH
   grant R01 HL146634. M.C.H. was supported by NIH grant R01 DK127278. This
   work was supported by an R35 NIH award (HL135831) and a Peer-Reviewed
   Medical Research Program (PRMRP) Department of Defense award
   (W81XWH-20-1-0165) to C.E.B. The Burns Laboratory was supported, in
   part, by philanthropic funds from the Boston Children's Hospital
   Department of Cardiology.
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NR 52
TC 18
Z9 20
U1 0
U2 10
PU NATURE PORTFOLIO
PI BERLIN
PA HEIDELBERGER PLATZ 3, BERLIN, 14197, GERMANY
EI 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD OCT 5
PY 2022
VL 13
IS 1
AR 5877
DI 10.1038/s41467-022-32982-x
PG 14
WC Multidisciplinary Sciences
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Science & Technology - Other Topics
GA 5C3VX
UT WOS:000864193100002
PM 36198703
OA Green Published, gold
DA 2025-04-10
ER

PT J
AU Rashka, C
   Hergalant, S
   Dreumont, N
   Oussalah, A
   Camadro, JM
   Marchand, V
   Hassan, Z
   Baumgartner, MR
   Rosenblatt, DS
   Feillet, F
   Guéant, JL
   Flayac, J
   Coelho, D
AF Rashka, Charif
   Hergalant, Sebastien
   Dreumont, Natacha
   Oussalah, Abderrahim
   Camadro, Jean-Michel
   Marchand, Virginie
   Hassan, Ziad
   Baumgartner, Matthias R.
   Rosenblatt, David S.
   Feillet, Francois
   Gueant, Jean-Louis
   Flayac, Justine
   Coelho, David
TI Analysis of fibroblasts from patients with cblC and cblG
   genetic defects of cobalamin metabolism reveals global dysregulation of
   alternative splicing
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID METHIONINE SYNTHASE; INBORN ERROR; MUTATIONS; DEFICIENCY; EXPRESSION;
   MMACHC; CARDIOMYOPATHY; TRANSCRIPTOME; PLASTICITY; RECEPTORS
AB Vitamin B12 or cobalamin (Cbl) metabolism can be affected by genetic defects leading to defective activity of either methylmalonyl-CoA mutase or methionine synthase or both enzymes. Patients usually present with a wide spectrum of pathologies suggesting that various cellular processes could be affected by modifications in gene expression. We have previously demonstrated that these genetic defects are associated with subcellular mislocalization of RNA-binding proteins (RBP) and subsequent altered nucleo-cytoplasmic shuttling of mRNA5. In order to characterize the possible changes of gene expression in these diseases, we have investigated global gene expression in fibroblasts from patients with cblC and cblG inherited disorders by RNA-seq. The most differentially expressed genes are strongly associated with developmental processes, neurological, ophthalmologic and cardiovascular diseases. These associations are consistent with the clinical presentation of cblC and cblG disorders. Multivariate analysis of transcript processing revaled splicing alterations that led to dramatic changes in cytoskeleton organization, response to stress, methylation of macromolecules and RNA binding. The RNA motifs associated with this differential splicing reflected a potential role of RBP such as HuR and HNRNPL. Proteomic analysis confirmed that mRNA processing was significantly disturbed. This study reports a dramatic alteration of gene expression in fibroblasts of patients with cblC and cblG disorders, which resulted partly from disturbed function of RBP. These data suggest to evaluate the rescue of the mislocalization of RBP as a potential strategy in the treatment of severe cases who are resistant to classical treatments with co-enzyme supplements.
C1 [Rashka, Charif; Hergalant, Sebastien; Dreumont, Natacha; Oussalah, Abderrahim; Hassan, Ziad; Feillet, Francois; Gueant, Jean-Louis; Flayac, Justine; Coelho, David] Univ Lorraine, INSERM, UMRS NGERE Nutr Genet & Environm Risk Exposure 12, F-54000 Nancy, France.
   [Oussalah, Abderrahim; Feillet, Francois; Gueant, Jean-Louis; Coelho, David] Univ Reg Hosp Ctr Nancy, Natl Ctr Inborn Errors Metab, F-54000 Nancy, France.
   [Camadro, Jean-Michel] Univ Denis Diderot Paris 7, CNRS, UMR 7592, F-75205 Paris, France.
   [Marchand, Virginie] Univ Lorraine, Epitranscript & RNA Sequencing Core Facil, IBSLor, UMS2008,CNRS,INSERM, F-54000 Nancy, France.
   [Baumgartner, Matthias R.] Univ Zurich, Clin Res Prior Program Rare Dis, Radiz Rare Dis Initiat Zurich, Zurich, Switzerland.
   [Rosenblatt, David S.] McGill Univ, Dept Human Genet, Montreal, PQ, Canada.
C3 Universite de Lorraine; Institut National de la Sante et de la Recherche
   Medicale (Inserm); CHU de Nancy; Universite Paris Cite; Centre National
   de la Recherche Scientifique (CNRS); CNRS - National Institute for
   Biology (INSB); Universite de Lorraine; Institut National de la Sante et
   de la Recherche Medicale (Inserm); Centre National de la Recherche
   Scientifique (CNRS); University of Zurich; McGill University
RP Coelho, D (corresponding author), Univ Lorraine, INSERM, UMRS 1256, NGERE,Fac Med, 9 Ave Foret Haye-BP50184, F-54505 Vandoeuvre Les Nancy, France.
EM david.coelho@inserm.fr
RI MARCHAND, Virginie/A-6866-2012; Dreumont, Natacha/JQV-9610-2023;
   Baumgartner, Matthias/JAC-6829-2023; Abderrahim, OUSSALAH/F-9821-2014;
   Hergalant, Sebastien/G-8129-2018; Baumgartner, Matthias R./Q-2855-2017;
   Coelho, David/F-6680-2011
OI Hergalant, Sebastien/0000-0001-8456-7992; Baumgartner, Matthias
   R./0000-0002-9270-0826; Coelho, David/0000-0001-7010-5789; Camadro,
   Jean-Michel/0000-0002-8549-2707; Dreumont, Natacha/0000-0001-7108-5804;
   flayac, justine/0000-0002-6376-517X
FU Foundation Jerome Lejeune; CHRU Nancy Hospital; Region Lorraine
FX This work was supported by Foundation Jerome Lejeune, CHRU Nancy
   Hospital and Region Lorraine.
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NR 46
TC 7
Z9 7
U1 0
U2 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD JUN 15
PY 2020
VL 29
IS 12
BP 1969
EP 1985
DI 10.1093/hmg/ddaa027
PG 17
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA PQ8KK
UT WOS:000606792200003
PM 32068834
OA Green Submitted
DA 2025-04-10
ER

PT J
AU Martins, CS
   de Castro, M
AF Martins, Clarissa Silva
   de Castro, Margaret
TI Generalized and tissue specific glucocorticoid resistance
SO MOLECULAR AND CELLULAR ENDOCRINOLOGY
LA English
DT Article
DE Glucocorticoid signaling; Glucocorticoid receptor; Glucocorticoid
   resistance
ID LIGAND-BINDING DOMAIN; PITUITARY-ADRENAL AXIS; PRIMARY CORTISOL
   RESISTANCE; RECEPTOR GENE NR3C1; SITE-SPECIFIC PHOSPHORYLATION; ACUTE
   LYMPHOBLASTIC-LEUKEMIA; CARDIOVASCULAR-DISEASE RISK; STEROID-HORMONE
   RECEPTOR; CORONARY-ARTERY-DISEASE; HEAT-SHOCK PROTEINS
AB Glucocorticoids (GCs) are steroid hormones that influence several physiologic functions and are among the most frequently prescribed drugs worldwide. Resistance to GCs has been observed in the context of the familial generalized GC resistance (Chrousos' syndrome) or tissue specific GC resistance in chronic inflammatory states. In this review, we have summarized the major factors that influence individual glucocorticoid sensitivity/ resistance. The fine-tuning of GC action is determined in a tissue-specific fashion that includes the combination of different GC receptor promoters, translation initiation sites, splice isoforms, interacting proteins, posttranslational modifications, and alternative mechanisms of signal transduction.
C1 [Martins, Clarissa Silva; de Castro, Margaret] Univ Sao Paulo, Dept Internal Med, Ribeirao Preto Med Sch, Av Bandeirantes 3900, BR-14049900 Ribeirao Preto, SP, Brazil.
   [Martins, Clarissa Silva] Univ Fed Mato Grosso do Sul, Sch Med, Campo Grande, MS, Brazil.
C3 Universidade de Sao Paulo; Universidade Federal de Mato Grosso do Sul
RP de Castro, M (corresponding author), Univ Sao Paulo, Dept Internal Med, Ribeirao Preto Med Sch, Av Bandeirantes 3900, BR-14049900 Ribeirao Preto, SP, Brazil.
EM castrom@fmrp.usp.br
RI de Castro, Margaret/A-4918-2009; Martins, Clarissa/GRX-9709-2022
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NR 354
TC 18
Z9 19
U1 0
U2 16
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
   IRELAND
SN 0303-7207
EI 1872-8057
J9 MOL CELL ENDOCRINOL
JI Mol. Cell. Endocrinol.
PD JUN 15
PY 2021
VL 530
AR 111277
DI 10.1016/j.mce.2021.111277
EA APR 2021
PG 23
WC Cell Biology; Endocrinology & Metabolism
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Endocrinology & Metabolism
GA SG7NX
UT WOS:000653627900005
PM 33864884
DA 2025-04-10
ER

PT J
AU Ryan, AW
   Hughes, DA
   Tang, K
   Kelleher, DP
   Ryan, T
   McManus, R
   Stoneking, M
AF Ryan, Anthony W.
   Hughes, David A.
   Tang, Kun
   Kelleher, Dermot P.
   Ryan, Thomas
   McManus, Ross
   Stoneking, Mark
TI Natural selection and the molecular basis of electrophoretic variation
   at the coagulation F13B locus
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE coagulation factors; population genetics; classical marker genetics;
   natural selection; alternative splicing
ID RECENT POSITIVE SELECTION; FACTOR-XIII; B-SUBUNIT; GENETIC-POLYMORPHISM;
   GENOME; HETEROGENEITY; ASSOCIATION; HAPLOTYPES; HEALTHY; LINKAGE
AB Electrophoretic analysis of protein variation at the coagulation F13B locus has previously revealed three alleles, with alleles 1, 2, and 3 each being at high frequency in European, African, and Asian populations, respectively. To determine if this unusual pattern of interpopulation differentiation reflects local natural selection or neutral genetic drift, we re-sequenced 4.6 kb of the gene, encompassing all exons, splice junctions, and 1.4 kb of the promoter, in African, European, and Asian samples. These analyses revealed three major lineages, which correspond to the common protein alleles and differ from each other at a non-synonymous substitution in exon 3 and a novel splice acceptor in intron K. There is previous evidence that these lineages are not functionally equivalent; we therefore carried out case-control analyses and confirmed that variability at F13B modulates susceptibility and/or survivorship in coronary artery disease (P<0.05) and type II diabetes within the coronary artery disease cohort (P<0.01). Tajima's D and Fu and Li's tests did not indicate significant departures from neutral expectations. However, publicly available data from SeattleSNPs and HapMap do indicate highly unusual levels of population differentiation (P=0.003) and an excess of allele-specific, extended haplotype homozygosity within the African population (P=0.0125). Possible causes of this putative signal of selection include hematophagous organisms, infection by pathogens that cause disseminated intravascular coagulation, and metabolic or dietary factors.
C1 [Ryan, Anthony W.; Kelleher, Dermot P.; Ryan, Thomas; McManus, Ross] St James Hosp, Trinity Coll Dulin, Dept Clin Med, Dublin 8, Ireland.
   [Ryan, Anthony W.; Kelleher, Dermot P.; Ryan, Thomas; McManus, Ross] St James Hosp, Trinity Ctr Hlth Sci, Inst Mol Med, Dublin 8, Ireland.
C3 Trinity College Dublin; Trinity College Dublin
RP Ryan, AW (corresponding author), St James Hosp, Trinity Coll Dulin, Dept Clin Med, Dublin 8, Ireland.
EM aryan12@tcd.ie
RI Tang, Kun/GSD-3218-2022; McManus, Ross/AAE-9236-2020; Ryan,
   Thomas/S-6978-2019; Ryan, Anthony/A-1336-2010; Hughes, David/E-7190-2015
OI TANG, KUN/0009-0008-2330-1056; Ryan, Anthony/0000-0001-5005-3344;
   Hughes, David/0000-0002-9644-8998; Ryan, Thomas/0000-0002-3556-5592;
   McManus, Ross/0000-0002-0529-9617
FU Max Planck Society, Germany; Hitachi Europe Ltd; Higher Education
   Authority Program for Research in Third Level Institutions (PRTLI),
   Ireland
FX We thank Ryk Ward (Oxford University), Manfred Kayser (MPI, Leipzig),
   Lutz Rower (Humboldt-Universitat, Berlin), Ilyas Kamboh (University of
   Pittsburgh) and numerous volunteers for the provision of samples for
   this study. RAS Ariens (University of Leeds) kindly provided details of
   some of the primers and PCR conditions used in this study. The technical
   assistance of Karsten Schwarz, Birgit Nickel and Barbara Hoffner (MPI,
   Leipzig) and sample collection by Edel Duggan (TCD, Ireland) are
   gratefully acknowledged. This project was supported by funds from the
   Max Planck Society, Germany, Hitachi Europe Ltd and the Higher Education
   Authority Program for Research in Third Level Institutions (PRTLI),
   Ireland.
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NR 47
TC 19
Z9 19
U1 0
U2 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD FEB
PY 2009
VL 17
IS 2
BP 219
EP 227
DI 10.1038/ejhg.2008.137
PG 9
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 395CJ
UT WOS:000262499600014
PM 18716611
OA Bronze, Green Published
DA 2025-04-10
ER

PT J
AU Ruiz-Velasco, V
   Ikeda, SR
AF Ruiz-Velasco, V
   Ikeda, SR
TI A splice variant of the G protein β3-subunit implicated in disease
   states does not modulate ion channels
SO PHYSIOLOGICAL GENOMICS
LA English
DT Article
DE G beta 3-s; signal transduction; ion channel modulation; FRET; N-type
   calcium channels
ID BETA-3 SUBUNIT GENE; RAT SYMPATHETIC NEURONS; 825T ALLELE;
   CALCIUM-CHANNELS; BLOOD-PRESSURE; C825T POLYMORPHISM; HUMAN NEUTROPHILS;
   CRYSTAL-STRUCTURE; ASSOCIATION; HYPERTENSION
AB A single-nucleotide polymorphism (C825T) in the GNB3 gene produces an alternative splice variant of the heterotrimeric G protein beta3 subunit (Gbeta3). Translation of the alternatively spliced mRNA results in a protein product, Gbeta3-s, in which 41 amino acids are deleted from Gbeta3. Interestingly, previous studies indicate that the C825T allele occurs with a high frequency in patients with certain vascular disorders. However, little information is available regarding the functional role Gbeta3-s might play in ion channel modulation. To examine this aspect, Gbeta3 or Gbeta3-s, along with either Ggamma2 or Ggamma5, were expressed in rat sympathetic neurons by nuclear microinjection of vector encoding the desired protein. In contrast to Gbeta3, expression of Gbeta3-s did not modulate N-type Ca2+ or G protein-gated inwardly rectifying K+ channels. In addition, Gbeta3-s did not appear to complex with a pertussis toxin-insensitive mutant of Galpha(i2) or couple to natively expressed alpha(2)-adrenergic receptors. Finally, fluorescence resonance energy transfer ( FRET) measurements indicated that enhanced yellow fluorescent protein ( EYFP)-labeled Gbeta3-s does not form a Gbetagamma heterodimer when coexpressed with enhanced cyan fluorescent protein (ECFP)-labeled Ggamma2. Therefore, when expressed in sympathetic neurons, Gbeta3-s appears to lack biological activity-hence pathological conditions in patients carrying the homozygous C825T allele may result from a functional knockout of Gbeta3.
C1 Guthrie Res Inst, Lab Mol Physiol, Sayre, PA 18840 USA.
RP Guthrie Res Inst, Lab Mol Physiol, 1 Guthrie Sq, Sayre, PA 18840 USA.
EM vruizvel@inet.guthrie.org
OI Ikeda, Stephen/0000-0002-4088-9508
FU NIGMS NIH HHS [GM-56180] Funding Source: Medline; NIMH NIH HHS
   [MH-12288] Funding Source: Medline
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NR 56
TC 27
Z9 30
U1 0
U2 1
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 1094-8341
EI 1531-2267
J9 PHYSIOL GENOMICS
JI Physiol. Genomics
PD APR 16
PY 2003
VL 13
IS 2
BP 85
EP 95
DI 10.1152/physiolgenomics.00057.2002
PG 11
WC Cell Biology; Genetics & Heredity; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Genetics & Heredity; Physiology
GA 668FA
UT WOS:000182278600002
PM 12595577
DA 2025-04-10
ER

PT J
AU Rosen, SM
   Joshi, M
   Hitt, T
   Beggs, AH
   Agrawal, PB
AF Rosen, Samantha M.
   Joshi, Mugdha
   Hitt, Talia
   Beggs, Alan H.
   Agrawal, Pankaj B.
TI Knockin mouse model of the human CFL2 p.A35T mutation results in
   a unique splicing defect and severe myopathy phenotype
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID NEMALINE MYOPATHY; CONGENITAL MYOPATHY; ADF/COFILIN FAMILY; MISSENSE
   MUTATIONS; DISRUPTION; ENHANCER; PROTEIN; BRCA2; COFILIN-2; MECHANISM
AB Cofilin-2 is an actin-binding protein that is predominantly expressed in skeletal and cardiac muscles and belongs to the AC group of proteins, which includes cofilin-1 and destrin. In humans, cofilin-2 (CFL2) mutations have been associated with congenital myopathies that include nemaline and myofibrillar myopathy. To understand the pathogenicity of the human CFL2 mutation, p.A35T, that first linked cofilin-2 with the human disease, we created a knock-in mouse model. The cfl2(A35T/A35T) (KI) mice were indistinguishable from their wild-type littermates at birth, but they rapidly worsened and died by postnatal day 9. The phenotypic, histopathologic and molecular findings mimicked the constitutive Cfl2-knockout (KO) mice described previously, including sarcomeric disruption and actin accumulations in skeletal muscles and negligible amounts of cofilin-2 protein. In addition, KI mice demonstrated a marked reduction in Cfl2 mRNA levels in various tissues including skeletal muscles. Further investigation revealed evidence of alternative splicing with the presence of two alternate transcripts of smaller size. These alternate transcripts were expressed at very low levels in the wild-type mice and were significantly upregulated in the mutant mice, indicating that pre-translational splicing defects may be a critical component of the disease mechanism associated with the mutation. Evidence of reduced expression of the full-length CFL2 transcript was also observed in the muscle biopsy sample of the patient with p.A35T mutation.
C1 [Rosen, Samantha M.; Joshi, Mugdha; Hitt, Talia; Agrawal, Pankaj B.] Harvard Med Sch, Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA.
   [Rosen, Samantha M.; Beggs, Alan H.; Agrawal, Pankaj B.] Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA.
   [Rosen, Samantha M.; Beggs, Alan H.; Agrawal, Pankaj B.] Harvard Med Sch, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA 02115 USA.
C3 Harvard University; Harvard University Medical Affiliates; Boston
   Children's Hospital; Harvard Medical School; Harvard University; Harvard
   Medical School; Harvard University Medical Affiliates; Boston Children's
   Hospital; Harvard University; Harvard University Medical Affiliates;
   Boston Children's Hospital; Harvard Medical School
RP Agrawal, PB (corresponding author), Childrens Hosp Boston, Div Neonatol, 300 Longwood Ave CLSB 15030, Boston, MA 02115 USA.; Agrawal, PB (corresponding author), Childrens Hosp Boston, Div Genet, 300 Longwood Ave CLSB 15030, Boston, MA 02115 USA.
EM pagrawal@enders.tch.harvard.edu
RI Agrawal, Pankaj/ABG-8957-2021
OI Hitt, Talia/0000-0003-4491-3648
FU National Institute of Health (NIH), National Institute of Arthritis and
   Musculoskeletal Diseases (NIAMS) [R01AR068429]; National Institute of
   Child Health and Human Development (NICHD) [R01HD075802]; Muscular
   Dystrophy Association (USA) [MDA602235]; NICHD [U54HD090255]
FX National Institute of Health (NIH), National Institute of Arthritis and
   Musculoskeletal Diseases (NIAMS) (R01AR068429 to P.B.A.); the National
   Institute of Child Health and Human Development (NICHD) (R01HD075802);
   Muscular Dystrophy Association (USA) (MDA602235 to A.H.B.). Sanger
   sequencing was performed at the Intellectual and Developmental
   Disabilities Research Center (IDDRC) laboratory at Boston Children's
   Hospital, supported by the NICHD (U54HD090255).
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NR 27
TC 6
Z9 7
U1 0
U2 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD JUN 15
PY 2020
VL 29
IS 12
BP 1996
EP 2003
DI 10.1093/hmg/ddaa035
PG 8
WC Biochemistry & Molecular Biology; Genetics & Heredity
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA PQ8KK
UT WOS:000606792200005
PM 32160286
OA Green Published
DA 2025-04-10
ER

PT J
AU Kluijtmans, LAJ
   Boers, GHJ
   Trijbels, FJM
   vanLithZanders, HMA
   vandenHeuvel, LPWJ
   Blom, HJ
AF Kluijtmans, LAJ
   Boers, GHJ
   Trijbels, FJM
   vanLithZanders, HMA
   vandenHeuvel, LPWJ
   Blom, HJ
TI A common 844INS68 insertion variant in the cystathionine beta-synthase
   gene
SO BIOCHEMICAL AND MOLECULAR MEDICINE
LA English
DT Article
DE cystathionine beta-synthase; insertion variant; homocysteine; vascular
   disease; alternative splicing; genetic marker
ID RISK FACTOR; VASCULAR-DISEASE; MOLECULAR-BASIS; HOMOCYSTINURIA;
   HYPERHOMOCYSTEINEMIA; MUTATION; THROMBOSIS; EXPRESSION; DEFICIENCY;
   PATIENT
AB Mildly elevated plasma homocysteine has been shown to be associated with an elevated risk for cardiovascular disease. In this study, we analyzed the frequency of a common 844ins68 insertion variant in the cystathionine beta-synthase gene (CBS) in patients with arterial occlusive disease and in controls and assessed the association between the insertion variant and plasma homocysteine concentrations. The insertion variant was equally distributed between both study groups. Furthermore, the presence of this insertion variant, either in the heterozygous or the homozygous state, is not associated with hyperhomocysteinemia. We therefore conclude that this common 844ins68 variant is a neutral insertion variant. (C) 1997 Academic Press.
C1 UNIV NIJMEGEN HOSP,DEPT INTERNAL MED,NL-6500 HB NIJMEGEN,NETHERLANDS.
C3 Radboud University Nijmegen
RP Kluijtmans, LAJ (corresponding author), UNIV NIJMEGEN HOSP,DEPT PEDIAT,NL-6500 HB NIJMEGEN,NETHERLANDS.
RI Kluijtmans, Leo/L-4437-2015; van den Heuvel, Lambertus/AAM-1772-2021
OI Blom, Henk/0000-0001-5202-9241
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NR 15
TC 65
Z9 71
U1 0
U2 0
PU ACADEMIC PRESS INC JNL-COMP SUBSCRIPTIONS
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495
SN 1077-3150
J9 BIOCHEM MOL MED
JI Biochem. Mol. Med.
PD OCT
PY 1997
VL 62
IS 1
BP 23
EP 25
DI 10.1006/bmme.1997.2623
PG 3
WC Biochemistry & Molecular Biology; Medicine, Research & Experimental
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Biochemistry & Molecular Biology; Research & Experimental Medicine
GA YG929
UT WOS:A1997YG92900004
PM 9367794
DA 2025-04-10
ER

PT J
AU Elgadi, KM
   Meguid, RA
   Qian, M
   Souba, WW
   Abcouwer, SF
AF Elgadi, KM
   Meguid, RA
   Qian, M
   Souba, WW
   Abcouwer, SF
TI Cloning and analysis of unique human glutaminase isoforms generated by
   tissue-specific alternative splicing
SO PHYSIOLOGICAL GENOMICS
LA English
DT Article
DE glutamine metabolism; mitochondrial proteins; gene expression; mRNA
   processing; CAG repeat polymorphisms; brain; kidney; muscle; mammary
   adenocarcinoma
ID MEMBRANE-BOUND FORMS; MITOCHONDRIAL GLUTAMINASE; RAT-KIDNEY;
   METABOLIC-ACIDOSIS; RENAL GLUTAMINASE; MESSENGER-RNA; AMINO-ACIDS;
   EXPRESSION; IDENTITY; DECREASE
AB Three human glutaminase (hGA) isoforms were identified, two of which represent isoforms previously unidentified in any species. One isoform contains an open reading frame with high homology with the rat kidney-type glutaminase, suggesting that this isoform represents the human kidney-type glutaminase, hKGA. A second isoform, termed hGAC, contains an open reading frame that matches hKGA except for a unique COOH-terminal amino acid sequence. In addition, a third human glutaminase isoform was identified from a computer search and on further analysis was found to represent an additional unique isoform, hGAM. hKGA is expressed predominantly in brain and kidney but not in liver, hGAC is expressed principally in cardiac muscle and pancreas but not in liver or brain, and hGAM is expressed solely in cardiac and skeletal muscle. hGAC is the predominant isoform expressed by a human breast cancer cell line that exhibits a high rate of glutamine utilization and glutaminase activity. Genomic Southern analysis as well as isolation and analysis of five glutaminase genomic clones suggested that all three hGA isoforms originate from the same locus and therefore represent mRNA species that are produced by tissue-specific alternative splicing of a single pre-mRNA. Furthermore, an RT-PCR assay was developed that can be used to easily differentiate between hKGA and hGAC mRNA species.
C1 Massachusetts Gen Hosp, Surg Oncol Res Labs, Boston, MA 02114 USA.
   Harvard Univ, Sch Med, Dept Surg, Boston, MA 02114 USA.
C3 Harvard University; Harvard University Medical Affiliates; Massachusetts
   General Hospital; Harvard University; Harvard Medical School
RP Abcouwer, SF (corresponding author), Univ New Mexico, Sch Med, Hlth Sci Ctr, Dept Biochem & Mol Biol, Basic Med Sci Bldg 249, Albuquerque, NM 87131 USA.
OI Meguid, Robert/0000-0003-2646-4252; Abcouwer, Steven
   F/0000-0003-2580-1288
FU NCI NIH HHS [R29-CA-72772] Funding Source: Medline; NIDDK NIH HHS
   [P30-DK-40561] Funding Source: Medline
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NR 34
TC 157
Z9 176
U1 3
U2 17
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 1094-8341
J9 PHYSIOL GENOMICS
JI Physiol. Genomics
PD AUG 31
PY 1999
VL 1
IS 2
BP 51
EP 62
DI 10.1152/physiolgenomics.1999.1.2.51
PG 12
WC Cell Biology; Genetics & Heredity; Physiology
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Cell Biology; Genetics & Heredity; Physiology
GA 317NZ
UT WOS:000087232900002
PM 11015561
DA 2025-04-10
ER

PT J
AU Grammatopoulos, DK
AF Grammatopoulos, Dimitris K.
TI Insights into mechanisms of corticotropin-releasing hormone receptor
   signal transduction
SO BRITISH JOURNAL OF PHARMACOLOGY
LA English
DT Review
DE alternative splicing; class-B1 GPCRs; CRH; CRH-R; MAPK; protein kinases;
   signalling; urocortin
ID PROTEIN-COUPLED RECEPTOR; FACTOR TYPE-1 RECEPTOR; HUMAN PREGNANT
   MYOMETRIUM; 7TH TRANSMEMBRANE DOMAIN; 1ST EXTRACELLULAR DOMAIN;
   NITRIC-OXIDE SYNTHASE; INHIBITS CELL-GROWTH; N-TERMINAL DOMAIN; FISH
   UROTENSIN-I; FACTOR-KAPPA-B
AB During evolution, mammals have developed remarkably similar molecular mechanisms to respond to external challenges and maintain survival. Critical regulators of these mechanisms are the family of stress-peptides that consists of the corticotropin-releasing hormone (CRH) and urocortins (Ucns). These neuropeptides fine-tune integration of an intricate series of physiological responses involving the autonomic, endocrine, immune, cardiovascular and reproductive systems, which induce a spectrum of behavioural and homeostatic changes. CRH and Ucns exert their actions by activating two types of CRH receptors (CRH-R), CRH-R1 and CRH-R2, which belong to the class-B1 family of GPCRs. The CRH-Rs exhibit signalling promiscuity facilitated by their ability to couple to multiple G-proteins and regulate diverse intracellular networks that involve intracellular effectors such as cAMP and an array of PKs in an agonist and tissue-specific manner, a property that allows them to exert unique roles in the integration of homeostatic mechanisms. We only now begin to unravel the plethora of CRH-R biological actions and the transcriptional and post-translational mechanisms such as alternative mRNA splicing or phosphorylation-mediated desensitization developed to tightly control CRH-Rs biological activity and regulate their physiological actions. This review summarizes the current understanding of CRH-R signalling complexity and regulatory mechanisms that underpin cellular responses to CRH and Ucns.
C1 Univ Warwick, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England.
C3 University of Warwick
RP Grammatopoulos, DK (corresponding author), Univ Warwick, Warwick Med Sch, Gibbet Hill Rd, Coventry CV4 7AL, W Midlands, England.
EM d.grammatopoulos@warwick.ac.uk
OI grammatopoulos, dimitris/0000-0002-6296-8290
FU Wellcome Trust
FX The work presented was supported by the Wellcome Trust. I would like to
   thank E. W. Hillhouse, M. A. Levine and H. Lehnert for their guidance,
   support and encouragement over the years.
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NR 98
TC 101
Z9 110
U1 2
U2 22
PU WILEY
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0007-1188
EI 1476-5381
J9 BRIT J PHARMACOL
JI Br. J. Pharmacol.
PD MAY
PY 2012
VL 166
IS 1
SI SI
BP 85
EP 97
DI 10.1111/j.1476-5381.2011.01631.x
PG 13
WC Pharmacology & Pharmacy
WE Science Citation Index Expanded (SCI-EXPANDED)
SC Pharmacology & Pharmacy
GA 923FZ
UT WOS:000302606200009
PM 21883143
OA Bronze, Green Published
DA 2025-04-10
ER

EF