Dilated Cardiomyopathy–Associated Skeletal Muscle Actin (ACTA1) Mutation R256H Disrupts Actin Structure and Function and Causes Cardiomyocyte Hypocontractility

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The authors demonstrated that a skeletal muscle actin mutation potently caused multiple defects in actin function at the atomic and molecular scales, and it functions in a dominant fashion, leading to cardiomyocyte contractile defects.
[Proceedings of The National Academy of Sciences of The United States of America]
Abstract