Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.

doi:10.1038/s41467-021-26623-y

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Article

Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.

Nature communications - 3 Nov 2021

Fenix Aidan M, Miyaoka Yuichiro, Bertero Alessandro, Blue Steven M, Spindler Matthew J, Tan Kenneth K B, Perez-Bermejo Juan A, Chan Amanda H, Mayerl Steven J, Nguyen Trieu D, Russell Caitlin R, Lizarraga Paweena P, Truong Annie, So Po-Lin, Kulkarni Aishwarya, Chetal Kashish, Sathe Shashank, Sniadecki Nathan J, Yeo Gene W, Murry Charles E, Conklin Bruce R, Salomonis Nathan

Abstract excerpt

Mutations in the cardiac splicing factor RBM20 lead to malignant dilated cardiomyopathy (DCM). To understand the mechanism of RBM20-associated DCM, we engineered isogenic iPSCs with DCM-associated missense mutations in RBM20 as well as RBM20 knockout (KO) iPSCs. iPSC-derived engineered heart tissues made from these cell lines recapitulate contractile dysfunction of RBM20-associated DCM and reveal greater...

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Identifiers

PMID: 34732726
DOI: 10.1038/s41467-021-26623-y
PMCID: PMC8566601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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