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King of hearts: a splicing factor rules cardiac proteins

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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Figure 1: Loss-of-function mutations in the splicing factor RBM20 cause dilated cardiomyopathy via the pathological splicing of cardiac proteins.

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Correspondence to Wolfgang A Linke.

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Linke, W., Bücker, S. King of hearts: a splicing factor rules cardiac proteins. Nat Med 18, 660–661 (2012). https://doi.org/10.1038/nm.2762

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