Article
Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy.
Science translational medicine - 23 Nov 2022
Nishiyama Takahiko, Zhang Yu, Cui Miao, Li Hui, Sanchez-Ortiz Efrain, McAnally John R, Tan Wei, Kim Jiwoong, Chen Kenian, Xu Lin, Bassel-Duby Rhonda, Olson Eric N
Abstract excerpt
Mutations in RNA binding motif protein 20 (RBM20) are a common cause of familial dilated cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS-rich) domain, which mediates nuclear localization. These mutations induce RBM20 mis-localization to form aberrant ribonucleoprotein (RNP) granules in the cytoplasm of cardiomyocytes and abnormal alternative splicing of cardiac genes,...
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