Ryanodine receptor mutations in arrhythmias: Advances in understanding the mechanisms of channel dysfunction

Biochemical Society Transactions

Volumn 35, Issue 5, 2007, Pages 946-951

  Thomas, N L ^a   George, C H ^a   Williams, A J ^a   Lai, F A ^a  

^a CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Arrhythmia; Arrhythmogenic right ventricular cardiomyopathy type 2 (ARVC); Calcium release channel; Catecholaminergic polymorphic ventricular tachycardia (CPVT); Ryanodine receptor (RyR)

Indexed keywords

4 [3 (4 BENZYL 1 PIPERIDINYL)PROPIONYL] 2,3,4,5 TETRAHYDRO 7 METHOXY 1,4 BENZOTHIAZEPINE; ADRENALIN; CAFFEINE; CALCINEURIN; FK 506 BINDING PROTEIN; ISOPRENALINE; RYANODINE RECEPTOR; RYANODINE RECEPTOR 2;

CALCIUM TRANSPORT; CARDIOMYOPATHY; CONFERENCE PAPER; DNA POLYMORPHISM; DRUG EFFECT; EXCITATION CONTRACTION COUPLING; GENE EXPRESSION; GENE MUTATION; HEART ARRHYTHMIA; HEART CONTRACTION; HEART VENTRICLE TACHYCARDIA; HUMAN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PHOSPHORYLATION; SARCOPLASMIC RETICULUM; SUDDEN DEATH;

ARRHYTHMIAS, CARDIAC; HUMANS; ION CHANNELS; MUTATION; PHENOTYPE; PHOSPHORYLATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TACROLIMUS BINDING PROTEINS;

MUS MUSCULUS;

EID: 36749067461     PISSN: 03005127     EISSN: None     Source Type: Journal    
DOI: 10.1042/BST0350946     Document Type: Conference Paper

References (61)

1. Keating, M.T. and Sanguinetti, M.C. (2001) Cell 104, 569-580
2. Gemayel, C., Pelliccia, A. and Thompson, P.D. (2001) J. Am. Coll. Cardiol. 38, 1773-1781
3. Leenhardt, A., Lucet, V., Denjoy, I., Grau, F., Ngoc, D.D. and Coumel, P. (1995) Circulation 91, 1512-1519
4. Postma, A.V., Denjoy, I., Kamblock, J., Alders, M., Lupoglazoff, J.M., Vaksmann, G., Dubosg-Bidot, L., Sebillon, P., Mannens, M.M., Guicheney, P. and Wilde, A.A. (2005) J. Med. Genet. 42, 863-870
5. Benkusky, N.A., Farrell, E.F. and Valdivia, H.H. (2004) Biochem. Biophys. Res. Commun, 322, 1280-1285
6. Priori, S.G., Napolitano, C., Memrni, M., Colombi, B., Drago, F., Gasparini, M., DeSimone, L., Coltorti, F., Bloise, R., Keegan, R. et al. (2002) Circulation 106, 69-74
7. Cerrone, M., Colombi, B., Santoro, M., di Barletta, M.R., Scelsi, M., Villani, L., Napolitano, C. and Priori, S.G. (2005) Circ. Res. 96, e77-e82
8. George, C.H., Jundi, H., Thomas, N.L., Fry, D.L. and Lai, F.A. (2007) J. Mol. Cell. Cardiol. 42, 34-50
9. Bauce, B., Rampazzo, A., Basso, C., Bagattin, A., Daliento, L., Tiso, N., Turrini, P., Thiene, G., Danieli, G.A. and Nava, A. (2002) J. Am. Coll. Cardiol. 40, 341-349
10. d'Amati, G., Bagattin, A., Bauce, B., Rampazzo, A., Autore, C., Basso, C., King, K., Romeo, M.D., Gallo, P., Thiene, G. et al. (2005) Hum. Pathol. 36, 761-767
11. Bezzina, C.R., Shimizu, W., Yang, P., Koopmann, T.T., Tanck, M.W., Miyamoto, Y., Kamakura, S., Roden, D.M. and Wilde, A.A. (2006) Circulation 113, 338-344
12. Poelzing, S., Forleo, C., Samodell, M., Dudash, L., Sorrentino, S., Anaclerio, M., Troccoli, R., Iacoviello, M., Romito, R., Guida, P. et al. (2006) Circulation 114, 368-376
13. Viswanathan, P.C., Benson, D.W. and Balser, J.R. (2003) J. Clin. Invest. 111, 341-346
14. Milting, H., Lukas, N., Klauke, B., Korfer, R., Perrot, A., Osterziel, K.J., Vogt, J., Peters, S., Thieleczek, R. and Varsanyi, M. (2006) Cardiovasc. Res. 71, 496-505
15. Lehnart, S.E., Reiken, S., Wronska, A., Seidman, J.G., Seidman, C.E. and Marks, A.R. (2007) Biophys. J. 92 (Suppl.), 24a
16. Tester, D.J., Dura, M., Carturan, E., Reiken, S., Wronska, A., Marks, A.R. and Ackerman, M.J. (2007) Heart Rhythm 4, 733-739
17. Thomas, N.L., George, C.H. and Lai, F.A. (2004) Cardiovasc. Res. 64, 52-60
18. Bers, D.M. (2001) Excitation-Contraction Coupling and Cardiac Contractile Force, 2nd edn, Kluwer Academic Publishers, Dordrecht, The Netherlands
19. Wehrens, X.H., Lehnart, S.E., Huang, F., Vest, J.A., Reiken, S.R., Mohler, P.J., Sun, J., Guatimosim, S., Song, L.S., Rosemblit, N. et al. (2003) Cell 113, 829-840
20. Marx, S.O., Reiken, S., Hisamatsu, Y., Jayaraman, T., Burkhoff, D., Rosemblit, N. and Marks, A.R. (2000) Cell 101, 365-376
21. Lehnart, S.E., Wehrens, X.H., Laitinen, P.J., Reiken, S.R., Deng, S.X., Cheng, Z., Landry, D.W., Kontula, K., Swan, H. and Marks, A.R. (2004) Circulation 109, 3208-3214
22. Zalk, R., Lehnart, S.E. and Marks, A.R. (2007) Annu. Rev. Biochem. 76, 367-385
23. Stange, M., Xu, L., Balshaw, D., Yamaguchi, N. and Meissner, G. (2003) J. Biol. Chem. 278, 51693-51702
24. Xiao, B., Sutherland, C., Walsh, M.P. and Chen, S.R. (2004) Circ. Res. 94, 487-495
25. George, C.H., Higgs, G.V. and Lai, F.A. (2003) Circ. Res. 93, 531-540
26. Jiang, D., Wang, R., Xiao, B., Kong, H., Hunt, D.J., Choi, P., Zhang, L. and Chen, S.R. (2005) Circ. Res. 97, 1173-1181
27. Wehrens, X.H., Lehnart, S.E., Reiken, S.R., Deng, S.X., Vest, J.A., Cervantes, D., Coromilas, J., Landry, D.W. and Marks, A.R. (2004) Science 304, 292-296
28. Liu, N., Colombi, B., Memmi, M., Zissimopoulos, S., Rizzi, N., Negri, S., Imbriani, M., Napolitano, C., Lai, F.A. and Priori, S.G. (2006) Circ. Res. 99, 292-298
29. Goonasekera, S.A., Mitchell, B.M., Hamilton, S.L. and Dirksen, R.T. (2006) Biophys. J. 90 (Suppl.), 557a
30. Kannankeril, P.J., Mitchell, B.M., Goonasekera, S.A., Chelu, M.G., Zhang, W., Sood, S., Kearney, D.L., Danila, C.I., De Biasi, M., Wehrens, X.H. et al. (2006) Proc. Natl. Acad. Sci. U.S.A. 103, 12179-12184
31. Xin, H.B., Senbonmatsu, T., Cheng, D.S., Wang, Y.X., Copello, J.A., Ji, G.J., Collier, M.I., Deng, K.Y., Jeyakumar, L.H., Magnuson, M.A. et al. (2002) Nature 416, 334-338
32. Ai, X., Curran, J.W., Shannon, T.R., Bers, D.M. and Pogwizd, S.M. (2005) Circ. Res. 97, 1314-1322
33. Carter, S., Colyer J. and Sitsapesan, R. (2006) Circ. Res. 98, 1506-1513
34. Xiao, B., Zhong, G., Obayashi, M., Yang, D., Chen, K., Walsh, M.P., Shimoni, Y., Cheng, H., Ter Keurs, H. and Chen, S.R. (2006) Biochem. J. 396, 7-16
35. Guo, T., Zhang, T., Mestril, R. and Bers, D.M. (2006) Circ. Res. 99, 398-406
36. Curran, J., Hinton, M.J., Rios, E., Bers, D.M. and Shannon, T.R. (2007) Circ. Res. 100, 391-398
37. Witcher, D.R., Kovacs, R.J., Schulman, H., Cefali, D.C. and Jones, L.R. (1991) J. Biol. Chem. 266, 11144-11152
38. Rodriguez, P., Bhogal, M.S. and Colyer, J. (2003) J. Biol. Chem. 278, 38593-38600
39. Wehrens, X.H., Lehnart, S.E., Reiken, S.R. and Marks, A.R. (2004) Circ. Res. 94, e61-e70
40. Thomas, N.L., Lai, F.A. and George, C.H. (2005) Biochem. Biophys. Res. Commun. 331, 231-238
41. Yang, Z., Ikemoto, N., Lamb, G.D. and Steele, D.S. (2006) Cardiovasc. Res. 70, 475-485
42. Jiang, D., Xiao, B., Yang, D., Wang, R., Choi, P., Zhang, L., Cheng, H. and Chen, S.R. (2004) Proc. Natl. Acad. Sci. U.S.A. 101, 13062-13067
43. Viatchenko-Karpinski, S., Terentyev, D., Gyorke, I., Terentyeva, R., Volpe, P., Priori, S.G., Napolitano, C., Nori, A., Williams, S.C. and Gyorke, S. (2004) Circ. Res. 94, 471-477
44. Gyorke, I., Hester, N., Jones, L.R. and Gyorke, S. (2004) Biophys. J. 86, 2121-2128
45. Terentyev, D., Nori, A., Santoro, M., Viatchenko-Karpinski, S., Kubalova, Z., Gyorke, I., Terentyeva, R., Vedamoorthyrao, S., Blom, N.A., Valle, G. et al. (2006) Circ. Res. 98, 1151-1158
46. Terentyev, D., Viatchenko-Karpinski, S., Vedamoorthyrao, S., Oduru, S., Gyorke, I., Williams, S.C. and Gyorke, S. (2007) J. Physiol. 583, 71-80
47. Venetucci, L.A., Trafford, A.W., Diaz, M.E., O'Neill, S.C. and Eisner, D.A. (2006) Circ. Res. 98, 1299-1305
48. Ikemoto, N. and Yamamoto, T. (2000) Trends Cardiovasc. Med. 10, 310-316
49. George, C.H., Jundi, H., Thomas, N.L., Scoote, M., Walters, N., Williams, A.J. and Lai, F.A. (2004) Mol. Biol. Cell 15, 2627-2638
50. Yamamoto, T. and Ikemoto, N. (2002) Biochem. Biophys. Res. Commun. 291, 1102-1108
51. Wang, R., Chen, W., Cai, S., Zhang, J., Bolstad, J., Wagenknecht, T., Liu, Z. and Chen, S.R. (2007) J. Biol. Chem. 282, 17785-17793
52. Liu, Z., Wang, R., Zhang, J., Chen, S.R. and Wagenknecht, T. (2005) J. Biol. Chem. 280, 37941-37947
53. Hamada, T., Bannister, M.L. and Ikemoto, N. (2007) Biochemistry 46, 4272-4279
54. Hamada, T., Bannister, M.L. and Ikemoto, N. (2007) Biophys. J. 92 (Suppl.), 90a
55. Bannister, M.L. and Ikemoto, N. (2007) Biophys. J. 92 (Suppl.), 90a
56. George, C.H., Jundi, H., Walters, N., Thomas, N.L., West, R.R. and Lai, F.A. (2006) Circ. Res. 98, 88-97
57. Meissner, G. (2004) Cell Calcium 35, 621-628
58. George, C.H., Yin, C.C. and Lai, F.A. (2005) Cell Biochem. Biophys. 42, 197-222
59. George, C.H. and Lai, F.A. (2007) Curr. Pharm. Des., in the press
60. Benkusky, N.A., Weber, C.S., Scherman, J.A., Farrell, E.F., Hacker, T.A., John, M.C., Powers, P.A. and Valdivia, H.H. (2007) Circ. Res., doi:10.1161/CIRCRESAHA.107.153007
61. Xiao, B., Tian, X., Xie, W., Jones, P.P., Cai, S., Wang, X., Jiang, D., Kong, H., Zhang, L., Chen, K. et al. (2007) J. Biol. Chem. 282, 30256-30264