Ontology highlight
ABSTRACT:
SUBMITTER: Snoberger A
PROVIDER: S-EPMC7895523 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Snoberger Aaron A Barua Bipasha B Atherton Jennifer L JL Shuman Henry H Forgacs Eva E Goldman Yale E YE Winkelmann Donald A DA Ostap E Michael EM
eLife 20210219
Hypertrophic cardiomyopathies (HCMs) are the leading cause of acute cardiac failure in young individuals. Over 300 mutations throughout β-cardiac myosin, including in the motor domain, are associated with HCM. A β-cardiac myosin motor mutation (R712L) leads to a severe form of HCM. Actin-gliding motility of R712L-myosin is inhibited, despite near-normal ATPase kinetics. By optical trapping, the working stroke of R712L-myosin was decreased 4-fold, but actin-attachment durations were normal. A pre ...[more]