Article
Functional aberration of myofibrils by cardiomyopathy-causing mutations in the coiled-coil region of the troponin-core domain.
Biochemical and biophysical research communications - 24 Apr 2009
Matsumoto Fumiko, Maeda Kayo, Chatake Toshiyuki, Maéda Yuichiro, Fujiwara Satoru
Abstract excerpt
Two cardiomyopathy-causing mutations, E244D and K247R, in human cardiac troponin T (TnT) are located in the coiled-coil region of the Tn-core domain. To elucidate effects of mutations in this region on the regulatory function of Tn, we measured Ca(2+)-dependent ATPase activity of myofibrils containing various mutants of TnT at these residues. The results confirmed that the mutant E244D increases the maximum...
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