Article
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Human mutation - 1 Nov 2020
Gaertner Anna, Klauke Baerbel, Felski Elina, Kassner Astrid, Brodehl Andreas, Gerdes Désirée, Stanasiuk Caroline, Ebbinghaus Hans, Schulz Uwe, Dubowy Karl-Otto, Tiesmeier Jens, Laser Kai-Thorsten, Bante Hendrik, Bergau Leonard, Sommer Philipp, Fox Henrik, Morshuis Michiel, Gummert Jan, Milting Hendrik
Abstract excerpt
Mutations in RBM20 encoding the RNA-binding motif protein 20 (RBM20) are associated with an early onset and clinically severe forms of cardiomyopathies. Transcriptome analyses revealed RBM20 as an important regulator of cardiac alternative splicing. RBM20 mutations are especially localized in exons 9 and 11 including the highly conserved arginine and serine-rich domain (RS domain). Here, we investigated in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.