Ontology highlight
ABSTRACT:
SUBMITTER: Toepfer CN
PROVIDER: S-EPMC7184965 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Toepfer Christopher N CN Wakimoto Hiroko H Garfinkel Amanda C AC McDonough Barbara B Liao Dan D Jiang Jianming J Tai Angela C AC Gorham Joshua M JM Lunde Ida G IG Lun Mingyue M Lynch Thomas L TL McNamara James W JW Sadayappan Sakthivel S Redwood Charles S CS Watkins Hugh C HC Seidman Jonathan G JG Seidman Christine E CE
Science translational medicine 20190101 476
The mechanisms by which truncating mutations in <i>MYBPC3</i> (encoding cardiac myosin-binding protein C; cMyBPC) or myosin missense mutations cause hypercontractility and poor relaxation in hypertrophic cardiomyopathy (HCM) are incompletely understood. Using genetic and biochemical approaches, we explored how depletion of cMyBPC altered sarcomere function. We demonstrated that stepwise loss of cMyBPC resulted in reciprocal augmentation of myosin contractility. Direct attenuation of myosin funct ...[more]