Article
A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay.
Circulation - 5 Feb 2019
Seeger Timon, Shrestha Rajani, Lam Chi Keung, Chen Caressa, McKeithan Wesley L, Lau Edward, Wnorowski Alexa, McMullen George, Greenhaw Matthew, Lee Jaecheol, Oikonomopoulos Angelos, Lee Soah, Yang Huaxiao, Mercola Mark, Wheeler Matthew, Ashley Euan A, Yang Fan, Karakikes Ioannis, Wu Joseph C
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in myosin-binding protein C3 ( MYBPC3) resulting in a premature termination codon (PTC). The underlying mechanisms of how PTC mutations in MYBPC3 lead to the onset and progression of HCM are poorly understood. This study's aim was to investigate the molecular mechanisms underlying the pathogenesis of HCM associated with MYBPC3 PTC...
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