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…·N. Salomonis
This study investigates how RBM20 mutations affect splicing and ribonucleoprotein granules in cardiomyopathy, revealing distinct pathogenic mechanisms between missense and knockout mutations.