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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Vydáno v:Sci Transl Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup: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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