Article
RBM20S639G mutation is a high genetic risk factor for premature death through RNA-protein condensates.
Journal of molecular and cellular cardiology - 1 Apr 2022
Wang Chunyan, Zhang Yanghai, Methawasin Mei, Braz Camila Urbano, Gao-Hu Jeffrey, Yang Betty, Strom Joshua, Gohlke Jochen, Hacker Timothy, Khatib Hasan, Granzier Henk, Guo Wei
Abstract excerpt
Dilated cardiomyopathy (DCM) is a heritable and genetically heterogenous disease often idiopathic and a leading cause of heart failure with high morbidity and mortality. DCM caused by RNA binding motif protein 20 (RBM20) mutations is diverse and needs a more complete mechanistic understanding. RBM20 mutation S637G (S639G in mice) is linked to severe DCM and early death in human patients. In this study, we...
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