[HTML][HTML] Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy
K Elliott, H Watkins, CS Redwood - Journal of Biological Chemistry, 2000 - ASBMB
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 using cTnI alone and in those …
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 using cTnI alone and in those …