Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

@inproceedings{Alamo2017EffectsOM,
  title={Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes},
  author={Lorenzo Alamo and James S. Ware and Ant{\'o}nio Pinto and Richard E. Gillilan and Jonathan G Seidman and Christine E Seidman and Ra{\'u}l Padr{\'o}n},
  booktitle={eLife},
  year={2017}
}
Cardiac β-myosin variants cause hypertrophic (HCM) or dilated (DCM) cardiomyopathy by disrupting sarcomere contraction and relaxation. The locations of variants on isolated myosin head structures predict contractility effects but not the prominent relaxation and energetic deficits that characterize HCM. During relaxation, pairs of myosins form interacting-heads motif (IHM) structures that with other sarcomere proteins establish an energy-saving, super-relaxed (SRX) state. Using a human… CONTINUE READING

Citations

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Showing 1-10 of 13 extracted citations

Genome Sequencing in Hypertrophic Cardiomyopathy.

Journal of the American College of Cardiology • 2018
View 1 Excerpt

Interacting-heads motif has been conserved as a mechanism of myosin II inhibition since before the origin of animals.

Proceedings of the National Academy of Sciences of the United States of America • 2018
View 3 Excerpts

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