A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 96, Issue 7, 1999, Pages 4164-4169

  Lynch, Patrick J ^a   Tong, Jiefei ^b   Lehane, Mary ^c   Mallet, Alejandro ^d   Giblin, Linda ^a   Heffron, James J A ^a   Vaughan, Pat ^a   Zafra, Gildardo ^d   MacLennan, David H ^b   McCarthy, Tommie V ^a  

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b UNIVERSITY OF TORONTO   (Canada)

^c University College Cork and INFANT Centre   (Ireland)

^d Servicio de Genetica   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

CAFFEINE; CALCIUM; HALOTHANE; RYANODINE RECEPTOR;

ANIMAL CELL; ARTICLE; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CELL CULTURE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA SEQUENCE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN TISSUE; MALIGNANT HYPERTHERMIA; MEXICO; MUSCLE BIOPSY; MYOPATHY; NONHUMAN; NUCLEIC ACID ANALYSIS; PATHOGENESIS; PHOTOMETRY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; RABBIT; RECEPTOR BINDING;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CAFFEINE; CALCIUM; CELL LINE; CHROMOSOME MAPPING; CLONING, ORGANISM; DNA, COMPLEMENTARY; FEMALE; GENETIC MARKERS; GENOTYPE; HALOTHANE; HUMANS; MALE; MEXICO; MUTAGENESIS, SITE-DIRECTED; MYOPATHIES, NEMALINE; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; RABBITS; RECOMBINANT PROTEINS; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TRANSFECTION;

ANIMALIA; ORYCTOLAGUS CUNICULUS;

EID: 0033616718     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.96.7.4164     Document Type: Article

References (36)

1. Shy, G. M. & Magee, K. R. (1956) Brain 79, 610-621.
2. Shuaib, A., Paasuke, R. T. & Brownell, K. W. (1987) Medicine 66, 389-396.
3. Dubowitz, V. & Brooke, M. H. (1973) in Major Problems in Neurology, ed. Walton, J. N. (Saunders, London), pp. 92-119.
4. Hayashi, K., Miller, R. G. & Brownell, K. W. (1989) Muscle Nerve 12, 95-102.
5. Vita, G., Migliorato, A., Baradello, A., Mazzeo, A., Rodolico, C., Falsaperla, R. & Messina, C. (1994) J. Neurol. Sci. 124, 71-76.
6. Denborough, M. A., Dennett, X. & Anderson, R. M. (1973) Br. Med. J. 1, 272-273.
7. Mickelson, J. R. & Louis, C. F. (1996) Physiol. Rev. 76, 537-592.
8. European Malignant Hyperthermia Group (1984) Br. J. Anaesth. 56, 1267-1269.
9. McCarthy, T. V., Healy, J. M. S., Heffron, J. J. A., Lehane, M., Deufel, T., Lehmann-Horn, F., Farrall, M. & Johnson, K. (1990) Nature (London) 343, 562-564.
10. MacLennan, D. H., Duff, C., Zorzato, F., Fujii, J., Phillips, M., Korneluk, R. G., Frodis, W., Britt, B. A. & Worton, R. G. (1990) Nature (London) 343, 559-561.
11. Mulley, J. C., Kozman, H. M., Phillips, H. A., Gedeon, A. K., McCure, J. A., Iles, D. E., Gregg, R. G., Hogan, K., Couch, F. J., MacLennan, D. H., et al. (1993) Am. J. Hum. Genet. 52, 398-405.
12. Schwemmle, S., Wolff, K., Palmucci, L. M., Grimm, T., Lehmann-Horn, F., Hubner, C. H., Hauser, E., Iles, D. E., MacLennan, D. H. & Muller, C. R. (1993) Genomics 17, 205-207.
13. Loke, J. & MacLennan, D. H. (1998) Am. J. Med. 104, 470-486.
14. Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G. & Epstein, N. D. (1993) Proc. Natl. Acad. Sci. USA 90, 3993-3997.
15. Miller, S. A., Dykes, D. D. & Polesky, H. F. (1988) Nucleic Acids Res. 16, 1215.
16. Quane, K. A., Healy, J. M. S., Keating, K. A., Manning, B. M., Couch, F. J., Palmucci, L. M., Doriguzzi, C., Fagerlund, T. H., Berg, K., Ording, H., et al. (1993) Nat. Genet. 5, 51-55.
17. Lathrop, G. M. & Lalouel, J. M. (1984) Am. J. Hum. Genet. 36, 460-465.
18. Zorzato, F., Fujii, J., Otsu, K., Phillips, M., Green, N. M., Lai, F. A., Meissner, G. & MacLennan, D. H. (1990) J. Biol. Chem. 265, 2244-2256.
19. Vaughan, P. & McCarthy, T. V. (1998) Nucleic Acids Res. 26, 810-815.
20. Tong, J., Oyamada, H., Demaurex, N., Grinstein, S., McCarthy, T. V. & MacLennan, D. H. (1997) J. Biol. Chem. 272, 26332-26339.
21. Du, G. G., Imredy, J. P. & MacLennan, D. H. (1998) J. Biol. Chem. 273, 33259-33266.
22. Tong, J., McCarthy, T. V. & MacLennan, D. H. (1999) J. Biol. Chem. 274, 693-702.
23. Grynkiewicz, G., Poenie, M. & Tsien, R. Y. (1985) J. Biol. Chem. 260, 3440-3450.
24. Valdivia, H. H., Hogan, K. & Coronado, R. (1991) Am. J. Physiol. 261, C237-C245.
25. Callaway, C., Seryshev, A., Wang, J. P., Slavik, K. J., Needleman, D. H., Cantu III, C., Wu, Y., Jayaraman, T., Marks, A. R. & Hamilton, S. L. (1994) J. Biol. Chem. 269, 15876-15884.
26. Thastrup, O., Cullen, P. J., Drobak, B. K., Hanley, M. R. & Dawson, A. P. (1990) Proc. Natl. Acad. Sci. USA 87, 2466-2470.
27. Bhat, M. B., Zhao, J., Takeshima, H. & Ma, J. (1997) Biophys. J. 73, 1329-1336.
28. Takeshima, H., Nishimura, S., Matsumoto, T., Ishida, H., Kangawa, K., Minamino, N., Matsuo, H., Ueda, M., Hanaoka, M., Hirose, T., et al. (1989) Nature (London) 339, 439-445.
29. Grunwald, R. & Meissner, G. (1995) J. Biol. Chem. 270, 11338-11347.
30. Guo, W. & Campbell, K. P. (1995) J. Biol. Chem. 270, 9027-9030.
31. Ikemoto, N., Antoniu, B., Kang, J. J., Meszaros, L. G. & Ronjat, M. (1991) Biochemistry 30, 5230-5237.
32. Coronado, R., Morrissette, J., Sukhareva, M. & Vaughan, D. M. (1994) Am. J. Physiol. 266, C1485-C1504.
33. Mickelson, J. R., Gallant, E. M., Litterer, L. A., Johnson, K. M., Rempel, W. E. & Louis, C. F. (1988) J. Biol. Chem. 263, 9310-9315.
34. Richter, M., Schleithoff, L., Deufel, T., Lehmann-Horn, F. & Herrmann-Frank, A. (1997) J. Biol. Chem. 272, 5256-5260.
35. MacLennan, D. H., Phillips, M. S. & Zhang, Y. (1996) in Molecular Biology of Membrane Transport Disorders, eds. Schultz, S. G., Andreoli, T. E., Brown, A. M., Fambrough, D., Hoffman, J. & Welsh, M. J. (Plenum, New York), pp. 181-200.
36. Ferrari, M. B., Ribbeck, K., Hagler, D. J. & Spitzer, N. C. (1998) J. Cell Biol. 141, 1349-1356.