Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies
A. M. Fenix, Y. Miyaoka, A. Bertero, S. Blue, M. J. Spindler, K. K. B. Tan, J. A. Perez-Bermejo, A. H. Chan, S. J. Mayer, T. Nguyen, C. R. Russell, P. Lizarraga, A. Truong, P.-L. So, A. Kulkarni, , N. Salomonis
This study investigates how RBM20 mutations affect splicing and ribonucleoprotein granules in cardiomyopathy, revealing distinct pathogenic mechanisms between missense and knockout mutations.
bioRxiv · Jun 2, 2021Cell Biology