Altered ryanodine receptor function in central core disease: Leaky or uncoupled Ca2+ release channels?

Trends in Cardiovascular Medicine

Volumn 12, Issue 5, 2002, Pages 189-197

  Dirksen, Robert T ^a   Avila, Guillermo ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ISOPROTEIN; RYANODINE RECEPTOR; CALCIUM;

CALCIUM TRANSPORT; CENTRAL CORD SYNDROME; EXCITATION CONTRACTION COUPLING; GENE MUTATION; HUMAN; MUSCLE WEAKNESS; PRIORITY JOURNAL; REVIEW; SARCOPLASMIC RETICULUM; CENTRAL CORE DISEASE; GENETICS; METABOLISM; MUSCLE CONTRACTION; MUTATION; PHYSIOLOGY; SKELETAL MUSCLE;

CALCIUM; HUMAN; MUSCLE CONTRACTION; MUSCLE, SKELETAL; MUTATION; MYOPATHY, CENTRAL CORE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SARCOPLASMIC RETICULUM; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; HUMANS;

EID: 0036021090     PISSN: 10501738     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1050-1738(02)00163-9     Document Type: Review

References (40)

1. 2+ channel
2. Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor
3. Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor
4. 2+ channel expression
5. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori Pedigree
6. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors
7. 2+ release
8. 2+ release channel (ryanodine receptor isoform 2)
9. Porcine malignant hyperthermia; genotype and contractile threshold of immature muscles
10. 2+ release channel (ryanodine receptor) activity and conductance
11. Heart failure after myocardial infarction; altered excitation-contraction coupling
12. Defective excitation-contraction coupling in experimental cardiac hypertrophy and heart failure
13. Central core disease; ultrastructure of the sarcoplasmic reticulum and T-tubules
14. Genetics and pathogenesis of malignant hyperthermia
15. 2+ release channels
16. Calcium channelopathies
17. 2+ release channel function and severe central core disease
18. PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor); defective regulation in failing hearts
19. Ryanodine receptor mutations in malignant hyperthermia and central core disease
20. 2+ ions in excitation-contraction coupling of skeletal muscle fibres
21. 2+ regulation defects
22. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
23. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
24. Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor
25. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
26. 2+ channel expression in rat skeletal muscle cells
27. Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia
28. Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype
29. Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families
30. North American malignant hyperthermia population; screening of the ryanodine receptor gene and identification of novel mutations
31. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy
32. Central core disease
33. A new congenital non-progressive myopathy
34. 2+
35. Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1; association with central core disease and alteration of calcium homeostasis
36. 2+ release channels
37. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease
38. 2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia
39. 2+ channel regulation
40. A mutation in the human ryanodine receptor gene associated with central core disease