Hypertrophic Cardiomyopathy Mutations in MYBPC3 Dysregulate Myosin: Implications for Therapy

The mechanisms by which truncating mutations in MYBPC3 (encoding cardiac myosin binding protein-C; cMyBPC) or myosin missense mutations cause hyper-contractility and poor relaxation in hypertrophic cardiomyopathy (HCM) are incompletely understood. Using genetic and biochemical approaches we explored...

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Publicado no:Sci Transl Med
Main Authors: Toepfer, Christopher N., Wakimoto, Hiroko, Garfinkel, Amanda C., McDonough, Barbara, Liao, Dan, Jiang, Jianming, Tai, Angela, Gorham, Josh, Lunde, Ida G., Lun, Mingyue, Lynch, Thomas L., McNamara, James W., Sadayappan, Sakthivel, Redwood, Charles S., Watkins, Hugh, Seidman, Jonathan, Seidman, Christine
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7184965/
https://ncbi.nlm.nih.gov/pubmed/30674652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aat1199
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