Literature DB >> 23775418

The alternative heart: impact of alternative splicing in heart disease.

Enrique Lara-Pezzi1, Jesús Gómez-Salinero, Alberto Gatto, Pablo García-Pavía.   

Abstract

Alternative splicing is the main driver of protein diversity and allows the production of different proteins from each gene in the genome. Changes in exon exclusion, intron retention or the use of alternative splice sites can alter protein structure, localisation, regulation and function. In the heart, alternative splicing of sarcomeric genes, ion channels and cell signalling proteins can lead to cardiomyopathies, arrhythmias and other pathologies. Also, a number of inherited conditions and heart-related diseases develop as a result of mutations affecting splicing. Here, we review the impact that changes in alternative splicing have on individual genes and on whole biological processes associated with heart disease. We also discuss promising therapeutic tools based on the manipulation of alternative splicing.

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Year:  2013        PMID： 23775418     DOI： 10.1007/s12265-013-9482-z

Source DB:  PubMed          Journal:  J Cardiovasc Transl Res        ISSN： 1937-5387            Impact factor:   4.132


  113 in total

1.  Deciphering the splicing code.

Authors:  Yoseph Barash; John A Calarco; Weijun Gao; Qun Pan; Xinchen Wang; Ofer Shai; Benjamin J Blencowe; Brendan J Frey
Journal:  Nature       Date:  2010-05-06       Impact factor: 49.962

2.  Alternatively spliced IS6 segments of the alpha 1C gene determine the tissue-specific dihydropyridine sensitivity of cardiac and vascular smooth muscle L-type Ca2+ channels.

Authors:  A Welling; A Ludwig; S Zimmer; N Klugbauer; V Flockerzi; F Hofmann
Journal:  Circ Res       Date:  1997-10       Impact factor: 17.367

3.  Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy.

Authors:  R S Savkur; A V Philips; T A Cooper
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

4.  A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart.

Authors:  Auinash Kalsotra; Xinshu Xiao; Amanda J Ward; John C Castle; Jason M Johnson; Christopher B Burge; Thomas A Cooper
Journal:  Proc Natl Acad Sci U S A       Date:  2008-12-15       Impact factor: 11.205

5.  Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins.

Authors:  Eric T Wang; Neal A L Cody; Sonali Jog; Michela Biancolella; Thomas T Wang; Daniel J Treacy; Shujun Luo; Gary P Schroth; David E Housman; Sita Reddy; Eric Lécuyer; Christopher B Burge
Journal:  Cell       Date:  2012-08-17       Impact factor: 41.582

6.  Molecular and functional characterization of a novel cardiac-specific human tropomyosin isoform.

Authors:  Sudarsan Rajan; Ganapathy Jagatheesan; Chehade N Karam; Marco L Alves; Ilona Bodi; Arnold Schwartz; Christian F Bulcao; Karen M D'Souza; Shahab A Akhter; Greg P Boivin; Dipak K Dube; Natalia Petrashevskaya; Andrew B Herr; Roger Hullin; Stephen B Liggett; Beata M Wolska; R John Solaro; David F Wieczorek
Journal:  Circulation       Date:  2010-01-11       Impact factor: 29.690

7.  RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.

Authors:  Ramesh S Yadava; Carla D Frenzel-McCardell; Qing Yu; Varadamurthy Srinivasan; Amy L Tucker; Jack Puymirat; Charles A Thornton; Owen W Prall; Richard P Harvey; Mani S Mahadevan
Journal:  Nat Genet       Date:  2007-12-16       Impact factor: 38.330

8.  APPRIS: annotation of principal and alternative splice isoforms.

Authors:  Jose Manuel Rodriguez; Paolo Maietta; Iakes Ezkurdia; Alessandro Pietrelli; Jan-Jaap Wesselink; Gonzalo Lopez; Alfonso Valencia; Michael L Tress
Journal:  Nucleic Acids Res       Date:  2012-11-17       Impact factor: 16.971

9.  E-peptides control bioavailability of IGF-1.

Authors:  Marianne Smedegaard Hede; Ekaterina Salimova; Agnieszka Piszczek; Emarald Perlas; Nadine Winn; Tommaso Nastasi; Nadia Rosenthal
Journal:  PLoS One       Date:  2012-12-10       Impact factor: 3.240

10.  A naturally occurring calcineurin variant inhibits FoxO activity and enhances skeletal muscle regeneration.

Authors:  Enrique Lara-Pezzi; Nadine Winn; Angelika Paul; Karl McCullagh; Esfir Slominsky; Maria Paola Santini; Foteini Mourkioti; Padmini Sarathchandra; Satsuki Fukushima; Ken Suzuki; Nadia Rosenthal
Journal:  J Cell Biol       Date:  2007-12-17       Impact factor: 10.539
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  40 in total

Review 1.  Advances in induced pluripotent stem cells, genomics, biomarkers, and antiplatelet therapy highlights of the year in JCTR 2013.

Authors:  Emanuele Barbato; Enrique Lara-Pezzi; Craig Stolen; Angela Taylor; Paul J Barton; Jozef Bartunek; Paul Iaizzo; Daniel P Judge; Lorrie Kirshenbaum; Burns C Blaxall; Andre Terzic; Jennifer L Hall
Journal:  J Cardiovasc Transl Res       Date:  2014-07       Impact factor: 4.132

Review 2.  Genetics of paediatric cardiomyopathies.

Authors:  Stephanie M Ware
Journal:  Curr Opin Pediatr       Date:  2017-10       Impact factor: 2.856

3.  hnRNP U protein is required for normal pre-mRNA splicing and postnatal heart development and function.

Authors:  Junqiang Ye; Nadine Beetz; Sean O'Keeffe; Juan Carlos Tapia; Lindsey Macpherson; Weisheng V Chen; Rhonda Bassel-Duby; Eric N Olson; Tom Maniatis
Journal:  Proc Natl Acad Sci U S A       Date:  2015-05-26       Impact factor: 11.205

4.  SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice.

Authors:  James Palacino; Susanne E Swalley; Cheng Song; Atwood K Cheung; Lei Shu; Xiaolu Zhang; Mailin Van Hoosear; Youngah Shin; Donovan N Chin; Caroline Gubser Keller; Martin Beibel; Nicole A Renaud; Thomas M Smith; Michael Salcius; Xiaoying Shi; Marc Hild; Rebecca Servais; Monish Jain; Lin Deng; Caroline Bullock; Michael McLellan; Sven Schuierer; Leo Murphy; Marcel J J Blommers; Cecile Blaustein; Frada Berenshteyn; Arnaud Lacoste; Jason R Thomas; Guglielmo Roma; Gregory A Michaud; Brian S Tseng; Jeffery A Porter; Vic E Myer; John A Tallarico; Lawrence G Hamann; Daniel Curtis; Mark C Fishman; William F Dietrich; Natalie A Dales; Rajeev Sivasankaran
Journal:  Nat Chem Biol       Date:  2015-06-01       Impact factor: 15.040

Review 5.  Pre-mRNA mis-splicing of sarcomeric genes in heart failure.

Authors:  Chaoqun Zhu; Zhilong Chen; Wei Guo
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2016-11-05       Impact factor: 5.187

6.  Association of intronic DNA methylation and hydroxymethylation alterations in the epigenetic etiology of dilated cardiomyopathy.

Authors:  Ali M Tabish; Mohammed Arif; Taejeong Song; Zaher Elbeck; Richard C Becker; Ralph Knöll; Sakthivel Sadayappan
Journal:  Am J Physiol Heart Circ Physiol       Date:  2019-04-26       Impact factor: 4.733

Review 7.  Alternative splicing isoforms in health and disease.

Authors:  Hyoung Kyu Kim; Michael Huy Cuong Pham; Kyung Soo Ko; Byoung Doo Rhee; Jin Han
Journal:  Pflugers Arch       Date:  2018-03-13       Impact factor: 3.657

Review 8.  Alternative splicing as a regulator of development and tissue identity.

Authors:  Francisco E Baralle; Jimena Giudice
Journal:  Nat Rev Mol Cell Biol       Date:  2017-05-10       Impact factor: 94.444

9.  Insulin regulates titin pre-mRNA splicing through the PI3K-Akt-mTOR kinase axis in a RBM20-dependent manner.

Authors:  Chaoqun Zhu; Zhiyong Yin; Bihua Tan; Wei Guo
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2017-07-01       Impact factor: 5.187

Review 10.  Linking Genes to Cardiovascular Diseases: Gene Action and Gene-Environment Interactions.

Authors:  Ares Pasipoularides
Journal:  J Cardiovasc Transl Res       Date:  2015-11-06       Impact factor: 4.132
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