Article
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3.
Nature communications - 18 Jul 2023
Kornienko Julia, Rodríguez-Martínez Marta, Fenzl Kai, Hinze Florian, Schraivogel Daniel, Grosch Markus, Tunaj Brigit, Lindenhofer Dominik, Schraft Laura, Kueblbeck Moritz, Smith Eric, Mao Chad, Brown Emily, Owens Anjali, Saguner Ardan M, Meder Benjamin, Parikh Victoria, Gotthardt Michael, Steinmetz Lars M
Abstract excerpt
Severe forms of dilated cardiomyopathy (DCM) are associated with point mutations in the alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich domain (RS-domain). Such mutations can cause defective splicing and cytoplasmic mislocalization, which leads to the formation of detrimental cytoplasmic granules. Successful development of personalized therapies requires identifying...
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