Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy

Journal of Molecular and Cellular Cardiology

Volumn 33, Issue 12, 2001, Pages 2095-2107

  Takahashi Yanaga, Fumi ^a,b,c   Morimoto, Sachio ^a,b,c   Harada, Keita ^a,b,c   Minakami, Reiko ^a,b   Shiraishi, Fumie ^a,b,c   Ohta, Mika ^a,b,c   Lu, Qun Wei ^a,b,c   Sasaguri, Toshiyuki ^a,b,c   Ohtsuki, Iwao ^a,b,c  

^a KYUSHU UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c RIKEN HARIMA INSTITUTE   (Japan)

Author keywords

Calcium sensitivity; Hypertrophic cardiomyopathy; Muscle contraction; Mutation

Indexed keywords

CALCIUM ION; TROPONIN C; TROPONIN I;

ARTICLE; BINDING AFFINITY; GENE MUTATION; HEART MUSCLE CONTRACTILITY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0035695803     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1006/jmcc.2001.1473     Document Type: Article

References (40)

1. Regulatory and cytoskeletal proteins of vertebrate skeletal muscle
2. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
3. α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
4. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
5. Recent advances in the molecular genetics of hypertrophic cardiomyopathy
6. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
7. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
8. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
9. α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
10. 2+-sensitizing effects of the mutations at Ile-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy
11. 2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy
12. Effects of missense mutations Phe110Ile and Glu244Asp in human cardiac troponin T on force generation in skinned cardiac muscle fibers
13. Functional consequences of the deletion mutation ΔGlu160 in human cardiac troponin T
14. Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy
15. Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T
16. Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils
17. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy
18. Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy
19. In vitro recombination and mutagenesis of DNA
20. Replacement of troponin components in myofibrils
21. Replacement of three troponin components with cardiac troponin components within single glycerinated skeletal muscle fibers
22. 2+-activated tension development of single glycerinated rabbit skeletal muscle fibers
23. A new and convenient colorimetric determination of inorganic orthophosphate and its application to the assay of inorganic pyrophosphatase
24. 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
25. Cleavage of structural proteins during the assembly of the head of bacteriophage T4
26. Sensitivity of actomyosin ATPase to calcium and strontium ions. Effect of hybrid troponins
27. Effects of a non-divalent cation binding mutant of myosin regulatory light chain on tension generation in skinned muscle fibers
28. 2+ regulation in developing rabbit cardiac muscle
29. Roles of troponin isoforms in pH dependence of contraction in rabbit fast and slow skeletal and cardiac muscles
30. 2+-specific sites of cardiac troponin and troponin C
31. 2+-dependent events in vitro and in situ
32. Synthetic studies on the inhibitory region of rabbit skeletal troponin I. Relationship of amino acid sequence to biological activity
33. 2- and COOH-terminal domains of the inhibitory region of troponin I in the regulation of skeletal muscle contraction
34. Proton-magnetic-resonance studies on the interaction of rabbit skeletal-muscle troponin I with troponin C and actin
35. The calucium and magnesium binding sites on troponin and their role in the regulation of myofibrillar adenosine triphosphatase
36. 2+-dependent regulation of muscle contraction
37. Functional consequences of troponin T mutations found in hypertrophic cardiomyopathy
38. Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy
39. 2+-regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein
40. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene