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Start Over Author "Annie Truong" Publication Type Academic Journals
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1. Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies

Author

Aidan M. Fenix, Yuichiro Miyaoka, Alessandro Bertero, Steven M. Blue, Matthew J. Spindler, Kenneth K. B. Tan, Juan A. Perez-Bermejo, Amanda H. Chan, Steven J. Mayerl, Trieu D. Nguyen, Caitlin R. Russell, Paweena P. Lizarraga, Annie Truong, Po-Lin So, Aishwarya Kulkarni, Kashish Chetal, Shashank Sathe, Nathan J. Sniadecki, Gene W. Yeo, Charles E. Murry, Bruce R. Conklin, and Nathan Salomonis

Subjects
Science
Abstract

Mutations in the splicing factor RBM20 cause aggressive Dilated Cardiomyopathy. Here the authors generated RBM20 R636S mutants and knockout in human iPSC-derived cardiomyocytes. Mutant RBM20 showed different target RNA binding, altered splicing and localization to cytoplasmic processing bodies.

Published
2021
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