Effects of troponin T mutations in familial hypertrophic cardiomyopathy on regulatory functions of other troponin subunits

Journal of Biochemistry

Volumn 130, Issue 1, 2001, Pages 127-131

  Takahashi Yanaga, F ^a   Ohtsuki, I ^a   Morimoto, S ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

ATPase; Calcium; Cardiac muscle; Hypertrophy; Troponin

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CALCIUM; MUTANT PROTEIN; PROTEIN SUBUNIT; RECOMBINANT PROTEIN; TROPONIN C; TROPONIN I; TROPONIN T;

ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILIAL DISEASE; GENE MUTATION; HEART MUSCLE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; NONHUMAN; SWINE;

EID: 0034917657     PISSN: 0021924X     EISSN: None     Source Type: Journal    
DOI: 10.1093/oxfordjournals.jbchem.a002950     Document Type: Article

References (31)

1. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
2. α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
3. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
4. A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation
5. α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
6. Cardiac myosin binding protein C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
7. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
8. Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: Insights into disease pathogenesis and troponin function
9. Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy
10. 92Gln) human troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility
11. Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice
12. A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy
13. Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy
14. Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins
15. Functional consequences of troponin T mutations found in hypertrophic cardiomyopathy
16. Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy
17. Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (179N) mutation
18. Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (179N) mutation linked to familial hypertrophic cardiomyopathy
19. Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants
20. Transgenic rat hearts expressing a human cardiac troponin T deletion reveal diastolic dysfunction and ventricular arrhythmias
21. Functional consequences of the deletion mutation ΔAGlu160 in human cardiac troponin T
22. Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy
23. 2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy
24. 2--sensitizing effects of the mutations at Ile-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy
25. Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T
26. Effects of missense mutations Phe110Ile and Glu244Asp in human cardiac troponin T on force generation in skinned cardiac muscle fibers
27. 2+-activated tension development of single glycerinated rabbit skeletal muscle fibers
28. A new and convenient colorimetric determination of inorganic orthophosphate and its application to the assay of inorganic pyrophosphatase
29. 2+-sensitivity of the ATPase activity of rabbit skeletal myofibrils: Effect of the complete substitution of troponin C with cardiac troponin C, calmodulin, and parvalbumins
30. Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis