Article
Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT.
Journal of molecular biology - 3 Aug 2012
Manning Edward P, Tardiff Jil C, Schwartz Steven D
Abstract excerpt
Familial hypertrophic cardiomyopathy (FHC) is one of the most common genetic causes of heart disease. Approximately 15% of FHC-related mutations are found in cTnT [cardiac troponin (cTn) T]. Most of the cTnT FHC-related mutations are in or flanking the N-tail TNT1 domain that directly interacts with overlapping tropomyosin (Tm). We investigate two sets of cTnT mutations at opposite ends of TNT1, mutations in...
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