Article

RBM20-variants induce distinct calcium handling and metabolic phenotypes in patient-specific stem cell models of dilated and non-compaction cardiomyopathy

2025-01-14

Abstract excerpt

<h4>Background and aim</h4> Mutations in the splice regulator RBM20 account for ∼3 % of genetic cardiomyopathies. In particular, the highly conserved RS domain is a hotspot for disease-associated mutations. Previously, mutations at same amino acid position 634 in the hotspot RS-domain were found to cause dilated cardiomyopathy (DCM) with left ventricular non-compaction (R634L) or without (R634W), but the pathophy...

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Literature Corpus work: 8d77d7f8-6675-5867-bdc8-ee84e5398c5c
DOI: 10.1101/2025.01.13.632728

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