Ontology highlight
ABSTRACT:
SUBMITTER: Adhikari AS
PROVIDER: S-EPMC6582153 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Adhikari Arjun S AS Trivedi Darshan V DV Sarkar Saswata S SS Song Dan D Kooiker Kristina B KB Bernstein Daniel D Spudich James A JA Ruppel Kathleen M KM
Nature communications 20190618 1
Hypertrophic cardiomyopathy (HCM) affects 1 in 500 people and leads to hyper-contractility of the heart. Nearly 40 percent of HCM-causing mutations are found in human β-cardiac myosin. Previous studies looking at the effect of HCM mutations on the force, velocity and ATPase activity of the catalytic domain of human β-cardiac myosin have not shown clear trends leading to hypercontractility at the molecular scale. Here we present functional data showing that four separate HCM mutations located at ...[more]