E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction

Mutations in cardiac myosin binding protein C (cMyBP-C) are prevalent causes of hypertrophic cardiomyopathy (HCM). Although HCM-causing truncation mutations in cMyBP-C are well studied, the growing number of disease-related cMyBP-C missense mutations remain poorly understood. Our objective was to de...

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Detalles Bibliográficos
Autores principales: De Lange, Willem J., Grimes, Adrian C., Hegge, Laura F., Spring, Alexander M., Brost, Taylor M., Ralphe, J. Carter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753599/
https://www.ncbi.nlm.nih.gov/pubmed/23980194
http://dx.doi.org/10.1085/jgp.201311018

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