Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca2+ binding and myofilament contractility.

@article{Liang2008FamilialHC,
  title={Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca2+ binding and myofilament contractility.},
  author={B. Liang and Franca Chung and Yang Qu and D. Pavlov and T. E. Gillis and S. Tikunova and J. Davis and G. Tibbits},
  journal={Physiological genomics},
  year={2008},
  volume={33 2},
  pages={
          257-66
        }
}
The cardiac troponin C (cTnC) mutation, L29Q, has been found in a patient with familial hypertrophic cardiomyopathy. We previously showed that L29, together with neighboring residues, Asp2, Val28, and Gly30, plays an important role in determining the Ca(2+) affinity of site II, the regulatory site of mammalian cardiac troponin C (McTnC). Here we report on the Ca(2+) binding characteristics of L29Q McTnC and D2N/V28I/L29Q/G30D McTnC (NIQD) utilizing the Phe(27) --> Trp (F27W) substitution… Expand
54 Citations
Cardiomyopathy-Related Mutations in Cardiac Troponin C, L29Q and G159D, Have Divergent Effects on Rat Cardiac Myofiber Contractile Dynamics
  • 16
  • Highly Influenced
  • PDF
Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations
  • 11
  • PDF
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
  • 102
Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies
  • 19
  • Highly Influenced
Challenging Current Paradigms Related to Cardiomyopathies
  • 42
  • PDF
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 48 REFERENCES
Structural Kinetics of Cardiac Troponin C Mutants Linked to Familial Hypertrophic and Dilated Cardiomyopathy in Troponin Complexes*
  • 52
  • PDF
Sequence mutations in teleost cardiac troponin C that are permissive of high Ca2+ affinity of site II.
  • 35
  • PDF
Binding of cardiac troponin-I147-163 induces a structural opening in human cardiac troponin-C.
  • 234
Designing Calcium-sensitizing Mutations in the Regulatory Domain of Cardiac Troponin C*
  • 78
  • PDF
Regulation of cardiac contractile function by troponin I phosphorylation.
  • 308
  • PDF
The effect of troponin I phosphorylation on the Ca2+-binding properties of the Ca2+-regulatory site of bovine cardiac troponin.
  • 332
  • PDF
Conformation of the Regulatory Domain of Cardiac Muscle Troponin C in Its Complex with Cardiac Troponin I*
  • 93
  • PDF
...
1
2
3
4
5
...