Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility
A. Garg, S. Jansen, R. Zhang, K. Lavine, M. J. Greenberg
This study shows that the ACTA1 R256H mutation disrupts actin structure and function in cardiomyocytes, leading to reduced contractility and a likely causative role in dilated cardiomyopathy.
bioRxiv · Mar 10, 2024Biophysics