Generation and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy.

@article{Wang2012GenerationAF,
  title={Generation and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy.},
  author={Yingcai Wang and Jose R Pinto and Raquel Sancho Solis and David Dweck and Jingsheng Liang and Zoraida Diaz-Perez and Ying Ge and Jeffery W. Walker and James D. Potter},
  journal={The Journal of biological chemistry},
  year={2012},
  volume={287 3},
  pages={
          2156-67
        }
}
The R21C substitution in cardiac troponin I (cTnI) is the only identified mutation within its unique N-terminal extension that is associated with hypertrophic cardiomyopathy (HCM) in man. Particularly, this mutation is located in the consensus sequence for β-adrenergic-activated protein kinase A (PKA)-mediated phosphorylation. The mechanisms by which this mutation leads to heart disease are still unclear. Therefore, we generated cTnI knock-in mouse models carrying an R21C mutation to evaluate… CONTINUE READING
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