2026-07-22T09:50:30Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/79692024-09-27T09:40:39Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Lara-Pezzi, Enrique
author
Gomez-Salinero, Jesus M.
author
Gatto, Alberto
author
García-Pavía, Pablo
funder
Unión Europea. Comisión Europea
funder
Ministerio de Economía y Competitividad (España)
funder
Comunidad de Madrid (España)
funder
Instituto de Salud Carlos III
2019-07-26T14:34:22Z
2019-07-26T14:34:22Z
2013-12
J Cardiovasc Transl Res. 2013; 6(6):945-55
10.1007/s12265-013-9482-z
1937-5395
1937-5387
Journal of cardiovascular translational research
23775418
http://hdl.handle.net/20.500.12105/7969
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.
eng
The alternative heart: impact of alternative splicing in heart disease
journal article
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URL
https://repisalud.isciii.es/bitstreams/6bf1794e-81ac-4350-abc5-b8fb38f94b70/download
File
MD5
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application/pdf
AlternativeHeartImpactAlternative_2013.pdf
URL
https://repisalud.isciii.es/bitstreams/3dd57422-4558-4559-a093-9e818949c0e6/download
File
MD5
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text/plain
AlternativeHeartImpactAlternative_2013.pdf.txt