Gene Review:
RYR1 - ryanodine receptor 1 (skeletal)
Homo sapiens
Synonyms:
CCO, MHS, MHS1, PPP1R137, RYDR, ...
Colley,
Tomlinson,
Bankier,
De Smet,
Lai,
Parys,
Nagarajan,
Oley,
Sánchez,
Casad??,
Callewaert,
Llach,
North,
Franco,
Alkon,
Allen,
Coggan,
Lluis,
Zissimopoulos,
Lai,
Sorrentino,
Kuntzer,
Matthews,
Perez,
Sewry,
Gedeon,
Müller,
Dulhunty,
Gage,
James,
López,
Bayes-Genis,
Lai,
Cinca,
Hove-Madsen,
Abbot,
Zissimopoulos,
Lamont,
Pouliquin,
Zissimopoulos,
Lai,
Rossi,
Laing,
Quinlivan,
Williams,
Bultynck,
West,
Ciruela,
Board,
Thomas,
Missiaen,
Prat-Vidal,
Dixon,
George,
De Smedt,
Davis,
Jungbluth,
Ralph,
Walsh,
Haan,
Muntoni,
Blackwell,
Blayney,
- Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. Deufel, T., Golla, A., Iles, D., Meindl, A., Meitinger, T., Schindelhauer, D., DeVries, A., Pongratz, D., MacLennan, D.H., Johnson, K.J. Am. J. Hum. Genet. (1992)
- Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. Ducreux, S., Zorzato, F., Müller, C., Sewry, C., Muntoni, F., Quinlivan, R., Restagno, G., Girard, T., Treves, S. J. Biol. Chem. (2004)
- Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Jungbluth, H., Müller, C.R., Halliger-Keller, B., Brockington, M., Brown, S.C., Feng, L., Chattopadhyay, A., Mercuri, E., Manzur, A.Y., Ferreiro, A., Laing, N.G., Davis, M.R., Roper, H.P., Dubowitz, V., Bydder, G., Sewry, C.A., Muntoni, F. Neurology (2002)
- Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Davis, M.R., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, F., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., Sánchez, A., Walsh, P., Nagarajan, L., Oley, C., Colley, A., Gedeon, A., Quinlivan, R., Dixon, J., James, D., Müller, C.R., Laing, N.G. Neuromuscul. Disord. (2003)
- Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. Davis, M., Brown, R., Dickson, A., Horton, H., James, D., Laing, N., Marston, R., Norgate, M., Perlman, D., Pollock, N., Stowell, K. British journal of anaesthesia. (2002)
- Ryanodine receptor modulation of in vitro associative learning in Hermissenda crassicornis. Blackwell, K.T., Alkon, D.L. Brain Res. (1999)
- Role of ryanodine receptor mutations in cardiac pathology: more questions than answers? Thomas, N.L., George, C.H., Lai, F.A. Biochem. Soc. Trans. (2006)
- Quality of life outcomes of saquinavir, zalcitabine and combination saquinavir plus zalcitabine therapy for adults with advanced HIV infection with CD4 counts between 50 and 300 cells/mm3. Revicki, D.A., Swartz, C., Wu, A.W., Haubrich, R., Collier, A.C. Antivir. Ther. (Lond.) (1999)
- The formation mechanism of a textured ceramic of thermoelectric [Ca2CoO3](0.62)[CoO2] on beta-Co(OH)2 templates through in situ topotactic conversion. Itahara, H., Seo, W.S., Lee, S., Nozaki, H., Tani, T., Koumoto, K. J. Am. Chem. Soc. (2005)
- Alterations in the ryanodine receptor calcium release channel correlate with Alzheimer's disease neurofibrillary and beta-amyloid pathologies. Kelliher, M., Fastbom, J., Cowburn, R.F., Bonkale, W., Ohm, T.G., Ravid, R., Sorrentino, V., O'Neill, C. Neuroscience (1999)
- Ryanodine receptor calcium release channels. Fill, M., Copello, J.A. Physiol. Rev. (2002)
- Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions. Franzini-Armstrong, C., Protasi, F. Physiol. Rev. (1997)
- Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects. Mickelson, J.R., Louis, C.F. Physiol. Rev. (1996)
- Dantrolene inhibition of ryanodine receptor Ca2+ release channels. Molecular mechanism and isoform selectivity. Zhao, F., Li, P., Chen, S.R., Louis, C.F., Fruen, B.R. J. Biol. Chem. (2001)
- Expression levels of RyR1 and RyR3 control resting free Ca2+ in skeletal muscle. Perez, C.F., López, J.R., Allen, P.D. Am. J. Physiol., Cell Physiol. (2005)
- Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. Keating, K.E., Giblin, L., Lynch, P.J., Quane, K.A., Lehane, M., Heffron, J.J., McCarthy, T.V. J. Med. Genet. (1997)
- Adenosine A(2A) receptors are expressed in human atrial myocytes and modulate spontaneous sarcoplasmic reticulum calcium release. Hove-Madsen, L., Prat-Vidal, C., Llach, A., Ciruela, F., Casad??, V., Lluis, C., Bayes-Genis, A., Cinca, J., Franco, R. Cardiovasc. Res. (2006)
- A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Gillard, E.F., Otsu, K., Fujii, J., Khanna, V.K., de Leon, S., Derdemezi, J., Britt, B.A., Duff, C.L., Worton, R.G., MacLennan, D.H. Genomics (1991)
- Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Brandt, A., Schleithoff, L., Jurkat-Rott, K., Klingler, W., Baur, C., Lehmann-Horn, F. Hum. Mol. Genet. (1999)
- An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Monnier, N., Romero, N.B., Lerale, J., Nivoche, Y., Qi, D., MacLennan, D.H., Fardeau, M., Lunardi, J. Hum. Mol. Genet. (2000)
- Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Sudbrak, R., Golla, A., Hogan, K., Powers, P., Gregg, R., Du Chesne, I., Lehmann-Horn, F., Deufel, T. Hum. Mol. Genet. (1993)
- B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. Girard, T., Cavagna, D., Padovan, E., Spagnoli, G., Urwyler, A., Zorzato, F., Treves, S. J. Biol. Chem. (2001)
- Expression of the ryanodine receptor isoforms in immune cells. Hosoi, E., Nishizaki, C., Gallagher, K.L., Wyre, H.W., Matsuo, Y., Sei, Y. J. Immunol. (2001)
- The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. Giannini, G., Conti, A., Mammarella, S., Scrobogna, M., Sorrentino, V. J. Cell Biol. (1995)
- Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Manning, B.M., Quane, K.A., Ording, H., Urwyler, A., Tegazzin, V., Lehane, M., O'Halloran, J., Hartung, E., Giblin, L.M., Lynch, P.J., Vaughan, P., Censier, K., Bendixen, D., Comi, G., Heytens, L., Monsieurs, K., Fagerlund, T., Wolz, W., Heffron, J.J., Muller, C.R., McCarthy, T.V. Am. J. Hum. Genet. (1998)
- Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Monnier, N., Romero, N.B., Lerale, J., Landrieu, P., Nivoche, Y., Fardeau, M., Lunardi, J. Hum. Mol. Genet. (2001)
- Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. Lynch, P.J., Krivosic-Horber, R., Reyford, H., Monnier, N., Quane, K., Adnet, P., Haudecoeur, G., Krivosic, I., McCarthy, T., Lunardi, J. Anesthesiology (1997)
- Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. Quane, K.A., Ording, H., Keating, K.E., Manning, B.M., Heine, R., Bendixen, D., Berg, K., Krivosic-Horber, R., Lehmann-Horn, F., Fagerlund, T., McCarthy, T.V. British journal of anaesthesia. (1997)
- Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia. Jiang, D., Chen, W., Xiao, J., Wang, R., Kong, H., Jones, P.P., Zhang, L., Fruen, B., Chen, S.R. J. Biol. Chem. (2008)
- The conserved sites for the FK506-binding proteins in ryanodine receptors and inositol 1,4,5-trisphosphate receptors are structurally and functionally different. Bultynck, G., Rossi, D., Callewaert, G., Missiaen, L., Sorrentino, V., Parys, J.B., De Smedt, H. J. Biol. Chem. (2001)
- Ryanodine receptor interaction with the SNARE-associated protein snapin. Zissimopoulos, S., West, D.J., Williams, A.J., Lai, F.A. J. Cell. Sci. (2006)
- Central domain of the human cardiac muscle ryanodine receptor does not mediate interaction with FKBP12.6. Zissimopoulos, S., Lai, F.A. Cell Biochem. Biophys. (2005)
- A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Lahat, H., Pras, E., Olender, T., Avidan, N., Ben-Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., Lancet, D., Eldar, M. Am. J. Hum. Genet. (2001)
- A recently identified member of the glutathione transferase structural family modifies cardiac RyR2 substate activity, coupled gating and activation by Ca2+ and ATP. Dulhunty, A.F., Pouliquin, P., Coggan, M., Gage, P.W., Board, P.G. Biochem. J. (2005)
- Functional interaction of the cytoplasmic domain of triadin with the skeletal ryanodine receptor. Groh, S., Marty, I., Ottolia, M., Prestipino, G., Chapel, A., Villaz, M., Ronjat, M. J. Biol. Chem. (1999)
- Intracellular calcium-release channels: regulators of cell life and death. Marks, A.R. Am. J. Physiol. (1997)
- The Mu class glutathione transferase is abundant in striated muscle and is an isoform-specific regulator of ryanodine receptor calcium channels. Abdellatif, Y., Liu, D., Gallant, E.M., Gage, P.W., Board, P.G., Dulhunty, A.F. Cell Calcium (2007)
- Functional coupling between TRPC3 and RyR1 regulates the expressions of key triadic proteins. Lee, E.H., Cherednichenko, G., Pessah, I.N., Allen, P.D. J. Biol. Chem. (2006)
- Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Tiso, N., Stephan, D.A., Nava, A., Bagattin, A., Devaney, J.M., Stanchi, F., Larderet, G., Brahmbhatt, B., Brown, K., Bauce, B., Muriago, M., Basso, C., Thiene, G., Danieli, G.A., Rampazzo, A. Hum. Mol. Genet. (2001)
- Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Iles, D.E., Segers, B., Sengers, R.C., Monsieurs, K., Heytens, L., Halsall, P.J., Hopkins, P.M., Ellis, F.R., Hall-Curran, J.L., Stewart, A.D. Hum. Mol. Genet. (1993)
- Three amino acid residues determine selective binding of FK506-binding protein 12.6 to the cardiac ryanodine receptor. Xin, H.B., Rogers, K., Qi, Y., Kanematsu, T., Fleischer, S. J. Biol. Chem. (1999)
- Interaction of FKBP12.6 with the cardiac ryanodine receptor C-terminal domain. Zissimopoulos, S., Lai, F.A. J. Biol. Chem. (2005)
- Ryanodine receptor oligomeric interaction: identification of a putative binding region. Blayney, L.M., Zissimopoulos, S., Ralph, E., Abbot, E., Matthews, L., Lai, F.A. J. Biol. Chem. (2004)
- Expression of ryanodine receptor type 3 and TRP channels in endothelial cells: comparison of in situ and cultured human endothelial cells. Köhler, R., Brakemeier, S., Kühn, M., Degenhardt, C., Buhr, H., Pries, A., Hoyer, J. Cardiovasc. Res. (2001)
- Characterization and mapping of the 12 kDa FK506-binding protein (FKBP12)-binding site on different isoforms of the ryanodine receptor and of the inositol 1,4,5-trisphosphate receptor. Bultynck, G., De Smet, P., Rossi, D., Callewaert, G., Missiaen, L., Sorrentino, V., De Smedt, H., Parys, J.B. Biochem. J. (2001)