Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: mechanisms and therapeutic opportunities.

@article{Schlossarek2011CardiacMP,
  title={Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: mechanisms and therapeutic opportunities.},
  author={Saskia Schlossarek and Giulia Mearini and Lucie Carrier},
  journal={Journal of molecular and cellular cardiology},
  year={2011},
  volume={50 4},
  pages={613-20}
}
Cardiac myosin-binding protein C (cMyBP-C) is a component of the thick filaments of the sarcomere. Understanding the structural and functional role of cMyBP-C in the heart is clinically relevant since cMyBP-C gene mutations are a widely recognized cause of hypertrophic cardiomyopathy (HCM), which affects 0.2% of the general population. Nonsense and frameshift mutations are common in cMyBP-C and their expressions are regulated by three quality control systems, the nonsense-mediated mRNA decay… CONTINUE READING

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