Article
Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy.
Journal of molecular and cellular cardiology - 1 Dec 2001
Takahashi-Yanaga F, Morimoto S, Harada K, Minakami R, Shiraishi F, Ohta M, Lu Q W, Sasaguri T, Ohtsuki I
Abstract excerpt
Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI. The missense mutations R145G and R145Q in the inhibitory region of cTnI reduced the intrinsic inhibitory activity of cTnI without changing the apparent affinity for actin. On the other...
Topics
- Actins
- Adenosine Triphosphatases
- Animals
- Calcium
- Cardiomyopathy, Hypertrophic, Familial
- Fluorescent Dyes
- Humans
- Muscle Fibers, Skeletal
- Mutation
- Myocardium
- Myofibrils
- Naphthalenesulfonates
- Recombinant Proteins