Article
MYH10 activation rescues contractile defects in arrhythmogenic cardiomyopathy (ACM).
Nature communications - 13 Oct 2023
García-Quintáns Nieves, Sacristán Silvia, Márquez-López Cristina, Sánchez-Ramos Cristina, Martinez-de-Benito Fernando, Siniscalco David, González-Guerra Andrés, Camafeita Emilio, Roche-Molina Marta, Lytvyn Mariya, Morera David, Guillen María I, Sanguino María A, Sanz-Rosa David, Martín-Pérez Daniel, Garcia Ricardo, Bernal Juan A
Abstract excerpt
The most prevalent genetic form of inherited arrhythmogenic cardiomyopathy (ACM) is caused by mutations in desmosomal plakophilin-2 (PKP2). By studying pathogenic deletion mutations in the desmosomal protein PKP2, here we identify a general mechanism by which PKP2 delocalization restricts actomyosin network organization and cardiac sarcomeric contraction in this untreatable disease. Computational modeling of PKP2...
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