Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.

@article{Elliott2000AlteredRP,
  title={Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.},
  author={Kathryn Elliott and H. V. Watkins and Charles S. Redwood},
  journal={The Journal of biological chemistry},
  year={2000},
  volume={275 29},
  pages={22069-74}
}
Cardiac troponin I (cTnI) is the inhibitory component of the troponin complex and is involved in the calcium control of heart muscle contraction. Recently, specific missense mutations of the cTnI gene (TNNI3) have been shown to cause familial hypertrophic cardiomyopathy (HCM). We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recombinant cTnI. Both mutations gave reduced inhibition of actin-tropomyosin-activated myosin ATPase, both in experiments… CONTINUE READING
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