Article

<i>MYBPHL</i> nonsense mutations have poor sarcomere binding, are degraded, and cause abnormal contraction

2024-07-05

Abstract excerpt

Heart function depends on the cardiomyocyte contractile apparatus and proper sarcomere protein expression. Mutations in sarcomere genes cause inherited forms of cardiomyopathy and arrhythmias, including atrial fibrillation (AF). Recently, a novel sarcomere component, myosin binding protein-H like (MyBP-HL) was identified. MyBP-HL is mainly expressed in cardiac atria and shares homology to the last three C-terminal...

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Literature Corpus work: f3ae17bf-5065-51f4-a7ac-af3b4088204b
DOI: 10.1101/2024.07.01.601577

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