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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發表在: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
格式: Artigo
語言:Inglês
出版: 2019
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Article
在線閱讀: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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