Article

<i>MYBPC3</i> Mutations cause Hypertrophic Cardiomyopathy by Dysregulating Myosin: Implications for Therapy

2018-04-18

Abstract excerpt

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 how depletion of cMyBPC altered sarcomere function. We demonstrate that stepwise loss of cMyBPC resulted in recipro...

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Literature Corpus work: 80a68fca-9d59-5c77-aa5b-f4932255e5aa
DOI: 10.1101/304204

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