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Comment
. 2012 May 4;18(5):660-1.
doi: 10.1038/nm.2762.

King of hearts: a splicing factor rules cardiac proteins

Wolfgang A Linke  1 , Sandra Bücker
Affiliations
Comment

King of hearts: a splicing factor rules cardiac proteins

Wolfgang A Linke et al. Nat Med. .

Abstract

Alternative splicing ensures the expression of functionally diverse proteins from individual genes; however, aberrant mRNA splicing is associated with various conditions, including heart disease. A recent study provides new mechanistic insights into heart failure by showing that a human cardiomyopathy-linked mutation in a cardiac splice factor affects post-transcriptional regulation, causing the expression of anomalous isoforms of a whole network of cardiac proteins (pages 766-773).

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Comment on

  • RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
    Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, Maatz H, Schulz H, Li S, Parrish AM, Dauksaite V, Vakeel P, Klaassen S, Gerull B, Thierfelder L, Regitz-Zagrosek V, Hacker TA, Saupe KW, Dec GW, Ellinor PT, MacRae CA, Spallek B, Fischer R, Perrot A, Özcelik C, Saar K, Hubner N, Gotthardt M. Guo W, et al. Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693. Nat Med. 2012. PMID: 22466703 Free PMC article.

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