Article
Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy.
Circulation research - 27 Oct 2000
James J, Zhang Y, Osinska H, Sanbe A, Klevitsky R, Hewett T E, Robbins J
Abstract excerpt
Multiple mutations in cardiac troponin I (cTnI) have been associated with familial hypertrophic cardiomyopathy. Two mutations are located in the cTnI inhibitory domain, a highly negatively charged region that alternately binds to either actin or troponin C, depending on the intracellular concentration of calcium. This region is critical to the inhibition of actin-myosin crossbridge formation when intracellular...
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