Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies
oleh: 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, Nathan Salomonis
| Format: | Article |
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| Diterbitkan: | Nature Portfolio 2021-11-01 |
Deskripsi
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.