[HTML][HTML] Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in …
M Wolny, M Colegrave, L Colman, E White… - Journal of Biological …, 2013 - ASBMB
It is unclear why mutations in the filament-forming tail of myosin heavy chain (MHC) cause
hypertrophic or dilated cardiomyopathy as these mutations should not directly affect
contraction. To investigate this, we first investigated the impact of five hypertrophic
cardiomyopathy-causing (N1327K, E1356K, R1382W, E1555K, and R1768K) and one
dilated cardiomyopathy-causing (R1500W) tail mutations on their ability to incorporate into
muscle sarcomeres in vivo. We used adenoviral delivery to express full-length wild type or …
hypertrophic or dilated cardiomyopathy as these mutations should not directly affect
contraction. To investigate this, we first investigated the impact of five hypertrophic
cardiomyopathy-causing (N1327K, E1356K, R1382W, E1555K, and R1768K) and one
dilated cardiomyopathy-causing (R1500W) tail mutations on their ability to incorporate into
muscle sarcomeres in vivo. We used adenoviral delivery to express full-length wild type or …
