Ontology highlight
ABSTRACT:
SUBMITTER: Glazier AA
PROVIDER: S-EPMC6124431 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Glazier Amelia A AA Hafeez Neha N Mellacheruvu Dattatreya D Basrur Venkatesha V Nesvizhskii Alexey I AI Lee Lap Man LM Shao Hao H Tang Vi V Yob Jaime M JM Gestwicki Jason E JE Helms Adam S AS Day Sharlene M SM
JCI insight 20180607 11
Cardiac myosin binding protein C (MYBPC3) is the most commonly mutated gene associated with hypertrophic cardiomyopathy (HCM). Haploinsufficiency of full-length MYBPC3 and disruption of proteostasis have both been proposed as central to HCM disease pathogenesis. Discriminating the relative contributions of these 2 mechanisms requires fundamental knowledge of how turnover of WT and mutant MYBPC3 proteins is regulated. We expressed several disease-causing mutations in MYBPC3 in primary neonatal ra ...[more]