-
1
-
-
50549187421
-
Anaesthetic deaths in a family
-
Denborough M, Lovell R: Anaesthetic deaths in a family. Lancet 2, 45 (1960).
-
(1960)
Lancet
, vol.2
, pp. 45
-
-
Denborough, M.1
Lovell, R.2
-
2
-
-
0036857181
-
Aktuelle aspekte der diagnostik der malignen hyperthermie
-
DOI 10.1007/s00101-002-0390-x
-
Ruffert H, Olthoff D, Deutrich C, Froster UG: Current aspects of the diagnosis of malignant hyperthermia. Anaesthesist 51, 904-913 (2002). (Pubitemid 35430630)
-
(2002)
Anaesthesist
, vol.51
, Issue.11
, pp. 904-913
-
-
Ruffert, H.1
Olthoff, D.2
Deutrich, C.3
Froster, U.G.4
-
3
-
-
2142810873
-
Molecular Genetic Testing for Malignant Hyperthermia Susceptibility
-
DOI 10.1097/00000542-200405000-00008
-
Girard T, Treves S, Voronkov E, Siegemund M, Urwyler A: Molecular genetic testing for malignant hyperthermia susceptibility. Anesthesiology 100, 1076-1080 (2004). (Pubitemid 38541961)
-
(2004)
Anesthesiology
, vol.100
, Issue.5
, pp. 1076-1080
-
-
Girard, T.1
Treves, S.2
Voronkov, E.3
Siegemund, M.4
Urwyler, A.5
-
4
-
-
0037688073
-
Recent advances in the diagnosis of malignant hyperthermia susceptability: How confident can we be of genetic testing?
-
DOI 10.1038/sj.ejhg.5200964
-
Robinson RL, Anetseder MJ, Brancadoro V, et al. Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? Eur. J. Hum. Genet. 11, 342-348 (2003). (Pubitemid 36553493)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.4
, pp. 342-348
-
-
Robinson, R.L.1
Anetseder, M.J.2
Brancadoro, V.3
Van Broekhoven, C.4
Carsana, A.5
Censier, K.6
Fortunato, G.7
Girard, T.8
Heytens, L.9
Hopkins, P.M.10
Jurkat-Rott, K.11
Klinger, W.12
Kozak-Ribbens, G.13
Krivosic, R.14
Monnier, N.15
Nivoche, Y.16
Olthoff, D.17
Rueffert, H.18
Sorrentino, V.19
Tegazzin, V.20
Mueller, C.R.21
more..
-
5
-
-
0027860445
-
The role of the calcium release channel of skeletal muscle sarcoplasmic reticulum in malignant hyperthermia
-
MacLennan DH, Chen SR: The role of the calcium release channel of skeletal muscle sarcoplasmic reticulum in malignant hyperthermia. Ann. NY Acad. Sci. 707, 294-304 (1993). (Pubitemid 24099485)
-
(1993)
Annals of the New York Academy of Sciences
, vol.707
, pp. 294-304
-
-
MacLennan, D.H.1
Chen, S.R.W.2
-
6
-
-
0014820368
-
Malignant hyperthermia: A statistical review
-
Britt BA, Kalow W: Malignant hyperthermia: a statistical review. Can. Anaesth. Soc. J. 17, 293-315 (1970).
-
(1970)
Can. Anaesth. Soc. J.
, vol.17
, pp. 293-315
-
-
Britt, B.A.1
Kalow, W.2
-
7
-
-
0033782713
-
Multiple interacting gene products may influence susceptibility to malignant hyperthermia
-
Robinson RL, Curran JL, Ellis FR, et al. Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann. Hum. Genet. 64, 307-320 (2000).
-
(2000)
Ann. Hum. Genet.
, vol.64
, pp. 307-320
-
-
Robinson, R.L.1
Curran, J.L.2
Ellis, F.R.3
-
8
-
-
33748997392
-
Mutations in RYR1 in malignant hypertheraiia and central core disease
-
DOI 10.1002/humu.20356
-
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P: Mutations in RYR1 in malignant hyperthermia and central core disease. Hum. Mutat. 27, 977-989 (2006). (Pubitemid 44454050)
-
(2006)
Human Mutation
, vol.27
, Issue.10
, pp. 977-989
-
-
Robinson, R.1
Carpenter, D.2
Shaw, M.-A.3
Halsall, J.4
Hopkins, P.5
-
9
-
-
33744959480
-
Malignant hyperthermia in Japan: Mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
-
DOI 10.1097/00000542-200606000-00008, PII 0000054220060600000008
-
Ibarra MC, Wu S, Murayama K, et al. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology 104, 1146-1154 (2006). (Pubitemid 43852946)
-
(2006)
Anesthesiology
, vol.104
, Issue.6
, pp. 1146-1154
-
-
Ibarra M, C.A.1
Wu, S.2
Murayama, K.3
Minami, N.4
Ichihara, Y.5
Kikuchi, H.6
Noguchi, S.7
Hayashi, Y.K.8
Ochiai, R.9
Nishino, I.10
-
10
-
-
0036840364
-
Presence of two different genetic traits in malignant hyperthermia families: Implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility
-
DOI 10.1097/00000542-200211000-00007
-
Monnier N, Krivosic-Horber R, Payen JF, et al. Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology 97, 1067-1074. (2002). (Pubitemid 35265557)
-
(2002)
Anesthesiology
, vol.97
, Issue.5
, pp. 1067-1074
-
-
Monnier, N.1
Krivosic-Horber, R.2
Payen, J.-F.3
Kozak-Ribbens, G.4
Nivoche, Y.5
Adnet, P.6
Reyford, H.7
Lunardi, J.8
-
12
-
-
0023927403
-
Malignant hyperthermia: Biochemical aspects of the acute episode
-
Heffron JJA: Malignant hyperthermia: biochemical aspects of the acute episode. Br. J. Anaesth. 60, 274-278 (1988).
-
(1988)
Br. J. Anaesth.
, vol.60
, pp. 274-278
-
-
Jja, H.1
-
13
-
-
0027386042
-
Triad formation: Organization and function of the sarcoplasmic reticulum calcium release channel and triadin in normal and dysgenic muscle in vitro
-
DOI 10.1083/jcb.123.5.1161
-
Flucher BE, Andrews SB, Fleischer S, Marks AR, Caswell A, Powell JA: Triad formation: organization and function of the sarcoplasmic reticulum calcium release channel and triadin in normal and dysgenic muscle in vitro. J. Cell Biol. 123, 1161-1174 (1993). (Pubitemid 23352425)
-
(1993)
Journal of Cell Biology
, vol.123
, Issue.5
, pp. 1161-1174
-
-
Flucher, B.E.1
Andrews, S.B.2
Fleischer, S.3
Marks, A.R.4
Caswell, A.5
Powell, J.A.6
-
14
-
-
0032480548
-
Malignant hyperthermia
-
DOI 10.1016/S0140-6736(98)03078-5
-
Denborough M: Malignant hyperthermia. Lancet 352, 1131-1136 (1998). (Pubitemid 28448529)
-
(1998)
Lancet
, vol.352
, Issue.9134
, pp. 1131-1136
-
-
Denborough, M.1
-
15
-
-
0030777358
-
Dantrolene inhibition of sarcoplasmic reticulum Ca2+ release by direct and specific action at skeletal muscle ryanodine receptors
-
Fruen BR, Mickelson JR, Louis CF: Dantrolene inhibition of sarcoplasmic reticulum Ca2+ release by direct and specific action at skeletal muscle ryanodine receptors. J. Biol. Chem. 272, 26965-26971 (1997).
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 26965-26971
-
-
Fruen, B.R.1
Mickelson, J.R.2
Louis, C.F.3
-
16
-
-
1542753655
-
Malignant hyperthermia
-
DOI 10.1016/j.bpa.2003.09.012, PII S1521689603000806
-
Rosenberg H, Davis M, James D, Pollock N, Stowell K: Malignant hyperthermia. Orphanet. J. Rare Dis. 2, 21 (2007). (Pubitemid 38949994)
-
(2003)
Best Practice and Research: Clinical Anaesthesiology
, vol.17
, Issue.4
, pp. 519-533
-
-
Ali, S.Z.1
Taguchi, A.2
Rosenberg, H.3
-
17
-
-
0343184068
-
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree
-
Brown RL, Pollock AN, Couchman KG, et al. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Human Molecular Genetics 9, 1515-1524 (2000).
-
(2000)
Human Molecular Genetics
, vol.9
, pp. 1515-1524
-
-
Brown, R.L.1
Pollock, A.N.2
Couchman, K.G.3
-
18
-
-
0018826709
-
Human malignant hyperthermia: Awake episodes and correction by dantrolene
-
Gronert GA, Thompson RL, Onofrio BM: Human malignant hyperthermia: awake episodes and correction by dantrolene. Anesth. Analg. 59, 377-378 (1980).
-
(1980)
Anesth. Analg.
, vol.59
, pp. 377-378
-
-
Gronert, G.A.1
Thompson, R.L.2
Onofrio, B.M.3
-
19
-
-
0035171073
-
Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis
-
Wappler F, Fiege M, Steinfath M, et al. Evidence for susceptibility to malignant hyperthermia in patients with exerciseinduced rhabdomyolysis. Anesthesiology 94, 95-100 (2001). (Pubitemid 32055184)
-
(2001)
Anesthesiology
, vol.94
, Issue.1
, pp. 95-100
-
-
Wappler, F.1
Fiege, M.2
Steinfath, M.3
Agarwal, K.4
Scholz, J.5
Singh, S.6
Matschke, J.7
Schulte Esch, J.8
-
20
-
-
18344393048
-
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees
-
DOI 10.1093/bja/88.4.508
-
Davis M, Brown R, Dickson A, et al. Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. Br. J. Anaesth. 88, 508-515 (2002). (Pubitemid 34285200)
-
(2002)
British Journal of Anaesthesia
, vol.88
, Issue.4
, pp. 508-515
-
-
Davis, M.1
Brown, R.2
Dickson, A.3
Horton, H.4
James, D.5
Laing, N.6
Marston, R.7
Norgate, M.8
Perlman, D.9
Pollock, N.10
Stowell, K.11
-
21
-
-
0033961246
-
Hemodynamic and metabolic alterations in response to graded exercise in a patient susceptible to malignant hyperthermia
-
Wappler F, Fiege M, Antz M, Schulte am Esch J: Hemodynamic and metabolic alterations in response to graded exercise in a patient susceptible to malignant hyperthermia. Anesthesiology 92, 268-272 (2000). (Pubitemid 30027475)
-
(2000)
Anesthesiology
, vol.92
, Issue.1
, pp. 268-272
-
-
Wappler, F.1
Fiege, M.2
Antz, M.3
Schulte Am Esch, J.4
-
22
-
-
41149180560
-
Remodeling of ryanodine receptor complex causes leaky channels: A molecular mechanism for decreased exercise capacity
-
DOI 10.1073/pnas.0711074105
-
Bellinger AM, Reiken S, Dura M, et al. Remodeling of ryanodine receptor complex causes leaky channels: a molecular mechanism for decreased exercise capacity. Proc. Natl Acad. Sci. USA 105, 2198-2202 (2008). (Pubitemid 351439488)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.6
, pp. 2198-2202
-
-
Bellinger, A.M.1
Reiken, S.2
Dura, M.3
Murphy, P.W.4
Deng, S.-X.5
Landry, D.W.6
Nieman, D.7
Lehnart, S.E.8
Samaru, M.9
LaCampagne, A.10
Marks, A.R.11
-
23
-
-
0038604389
-
FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes
-
DOI 10.1074/jbc.M205866200
-
Avila G, Lee EH, Perez CF, Allen PD, Dirksen RT: FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes. J. Biol. Chem. 278, 22600-22608 (2003). (Pubitemid 36830317)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.25
, pp. 22600-22608
-
-
Avila, G.1
Lee, E.H.2
Perez, C.F.3
Allen, P.D.4
Dirksen, R.T.5
-
24
-
-
0024790479
-
Standardization of the caffeine halothane muscle contracture test
-
North American Malignant Hyperthermia Group
-
Larach MG: Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group. Anesth. Analg. 69, 511-515 (1989).
-
(1989)
Anesth. Analg.
, vol.69
, pp. 511-515
-
-
Larach, M.G.1
-
25
-
-
9844240499
-
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH group: Results of testing patients surviving fulminant MH and unrelated low-risk subjects
-
Ording H, Brancadoro V, Cozzolino S, et al. In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European Group MH: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anaesthesiol. Scand. 41, 955-966 (1997). (Pubitemid 27414735)
-
(1997)
Acta Anaesthesiologica Scandinavica
, vol.41
, Issue.8
, pp. 955-966
-
-
Ording, H.1
Brancadoro, V.2
Cozzolino, S.3
Ellis, F.R.4
Glauber, V.5
Gonano, E.F.6
Halsall, P.J.7
Hartung, E.8
Heffron, J.J.A.9
Heytens, L.10
Kozak-Ribbens, G.11
Kress, H.12
Krivosic-Horber, R.13
Lehmann-Horn, F.14
Mortier, W.15
Nivoche, Y.16
Ranklev-Twetman, E.17
Sigurdsson, S.18
Snoeck, M.19
Stieglitz, P.20
Tegazzin, V.21
Urwyler, A.22
Wappler, F.23
more..
-
26
-
-
0035145133
-
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia
-
DOI 10.1093/bja/86.2.283
-
Urwyler A, Deufel T, McCarthy T, West S: Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br. J. Anaesth. 86, 283-287. (2001). (Pubitemid 32103424)
-
(2001)
British Journal of Anaesthesia
, vol.86
, Issue.2
, pp. 283-287
-
-
Urwyler, A.1
Deufel, T.2
McCarthy, T.3
West, S.4
-
27
-
-
0025176813
-
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
-
DOI 10.1038/343559a0
-
MacLennan DH, Duff C, Zorzato F, et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 343, 559-561 (1990). (Pubitemid 20042716)
-
(1990)
Nature
, vol.343
, Issue.6258
, pp. 559-561
-
-
MacLennan, D.H.1
Duff, C.2
Zorzato, F.3
Fujii, J.4
Phillips, M.5
Korneluk, R.G.6
Frodis, W.7
Britt, B.A.8
Worton, R.G.9
-
28
-
-
0025186845
-
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2
-
DOI 10.1038/343562a0
-
McCarthy TV, Healy JM, Heffron JJ, et al. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 343, 562-564 (1990). (Pubitemid 20042717)
-
(1990)
Nature
, vol.343
, Issue.6258
, pp. 562-564
-
-
McCarthy, T.V.1
Sandra Healy, J.M.2
Heffron, J.J.A.3
Lehane, M.4
Deufel, T.5
Lehmann-Horn, F.6
Farrell, M.7
Johnson, K.8
-
29
-
-
0030922550
-
Malignant-hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage- dependent calcium-channel receptor in skeletal muscle
-
Monnier N, Procaccio V, Stieglitz P, Lunardi J: malignant-hyperthermia susceptibility is associated with a mutation of the 1-subunit of the human dihydropyridine-sensitive l-type voltagedependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 60, 1316-1325 (1997). (Pubitemid 27258063)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.6
, pp. 1316-1325
-
-
Monnier, N.1
Procaccio, V.2
Stieglitz, P.3
Lunardi, J.4
-
30
-
-
27644532060
-
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility
-
DOI 10.1002/humu.20231
-
Monnier N, Kozak-Ribbens G, Krivosic-Horber R, et al. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum. Mutat. 26, 413-425 (2005). (Pubitemid 41572448)
-
(2005)
Human Mutation
, vol.26
, Issue.5
, pp. 413-425
-
-
Monnier, N.1
Kozak-Ribbens, G.2
Krivosic-Horber, R.3
Nivoche, Y.4
Qi, D.5
Kraev, N.6
Loke, J.7
Sharma, P.8
Tegazzin, V.9
Figarella-Branger, D.10
Romero, N.11
Mezin, P.12
Bendahan, D.13
Payen, J.-F.14
Depret, T.15
Maclennan, D.H.16
Lunardi, J.17
-
31
-
-
23644452320
-
2+ release channels
-
DOI 10.1172/JCI25664
-
Priori SG, Napolitano C: Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. J. Clin. Invest. 115, 2033-2038 (2005). (Pubitemid 41134139)
-
(2005)
Journal of Clinical Investigation
, vol.115
, Issue.8
, pp. 2033-2038
-
-
Priori, S.G.1
Napolitano, C.2
-
32
-
-
4544330774
-
Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling
-
DOI 10.1152/ajpcell.00173.2004
-
Weiss RG, OConnell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT: Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. Am. J. Physiol. Cell Physiol. 287, C1094-C1102 (2004). (Pubitemid 39238334)
-
(2004)
American Journal of Physiology - Cell Physiology
, vol.287
, Issue.4
-
-
Weiss, R.G.1
O'Connell, K.M.S.2
Flucher, B.E.3
Allen, P.D.4
Grabner, M.5
Dirksen, R.T.6
-
33
-
-
0037391132
-
Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia [2] (multiple letters)
-
DOI 10.1034/j.1399-6576.2003.t01-2-00044.x
-
Urwyler A, Halsall PJ, Mueller C, Robinson R: Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia. Acta Anaesthesiol. Scand. 47, 492; author reply 493 (2003). (Pubitemid 36438871)
-
(2003)
Acta Anaesthesiologica Scandinavica
, vol.47
, Issue.4
, pp. 492-493
-
-
Urwyler, A.1
Halsall, P.J.2
Mueller, C.3
Robinson, R.4
Rueffert, H.5
Olthoff, D.6
-
34
-
-
0031951496
-
The sensitivity and specificity of the caffeine-halothane contracture test: A report from the North American Malignant Hyperthermia Registry
-
The North American Malignant Hyperthermia Registry of MHAUS
-
Allen GC, Larach MG, Kunselman AR: The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS. Anesthesiology 88, 579-588 (1998).
-
(1998)
Anesthesiology
, vol.88
, pp. 579-588
-
-
Allen, G.C.1
Larach, M.G.2
Kunselman, A.R.3
-
35
-
-
40849147090
-
Personal recollections on the discovery of the ryanodine receptors of muscle
-
Fleischer S: Personal recollections on the discovery of the ryanodine receptors of muscle. Biochem. Biophys. Res. Commun. 369, 195-207 (2008).
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.369
, pp. 195-207
-
-
Fleischer, S.1
-
36
-
-
0029983398
-
Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor
-
DOI 10.1038/380072a0
-
Nakai J, Dirksen RT, Nguyen HT, Pessah IN, Beam KG, Allen PD: Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor. Nature 380, 72-75 (1996). (Pubitemid 26076239)
-
(1996)
Nature
, vol.380
, Issue.6569
, pp. 72-75
-
-
Nakai, J.1
Dirksen, R.T.2
Nguyen, H.T.3
Pessah, I.N.4
Beam, K.G.5
Allen, P.D.6
-
37
-
-
0032577476
-
2+ channels
-
DOI 10.1074/jbc.273.22.13403
-
Nakai J, Sekiguchi N, Rando TA, Allen PD, Beam KG: Two regions of the ryanodine receptor involved in coupling with l-type Ca2+ channels. J. Biol. Chem. 273, 13403-13406 (1998). (Pubitemid 28268377)
-
(1998)
Journal of Biological Chemistry
, vol.273
, Issue.22
, pp. 13403-13406
-
-
Nakai, J.1
Sekiguchi, N.2
Rando, T.A.3
Allen, P.D.4
Beam, K.G.5
-
38
-
-
11144221442
-
Structural insights into excitation-contraction coupling by electron cryomicroscopy
-
Serysheva II: Structural insights into excitation-contraction coupling by electron cryomicroscopy. Biochemistry (Mosc.) 69, 1226-1232 (2004).
-
(2004)
Biochemistry (Mosc.)
, vol.69
, pp. 1226-1232
-
-
Serysheva, I.I.1
-
39
-
-
31344470197
-
Structural characterization of the RyR1-FKBP12 interaction
-
DOI 10.1016/j.jmb.2005.12.023, PII S0022283605015846
-
Samso M, Shen X, Allen PD: Structural characterization of the RyR1-FKBP12 interaction. J. Mol. Biol. 356, 917-927 (2006). (Pubitemid 43145946)
-
(2006)
Journal of Molecular Biology
, vol.356
, Issue.4
, pp. 917-927
-
-
Samso, M.1
Shen, X.2
Allen, P.D.3
-
40
-
-
4143110231
-
The relative position of RyR feet and DHPR tetrads in skeletal muscle
-
DOI 10.1016/j.jmb.2004.07.035, PII S0022283604008617
-
Paolini C, Protasi F, Franzini-Armstrong C: The relative position of RyR feet and DHPR tetrads in skeletal muscle. J. Mol. Biol. 342, 145-153 (2004). (Pubitemid 39094511)
-
(2004)
Journal of Molecular Biology
, vol.342
, Issue.1
, pp. 145-153
-
-
Paolini, C.1
Protasi, F.2
Franzini-Armstrong, C.3
-
41
-
-
4444270382
-
Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease
-
Lyfenko AD, Goonasekera SA, Dirksen RT: Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease. Biochem. Biophys. Res. Commun. 322, 1256-1266 (2004).
-
(2004)
Biochem. Biophys. Res. Commun.
, vol.322
, pp. 1256-1266
-
-
Lyfenko, A.D.1
Goonasekera, S.A.2
Dirksen, R.T.3
-
42
-
-
0242330136
-
2+ from a thapsigargin-sensitive store in the nuclear envelope by activating ryanodine receptors
-
DOI 10.1083/jcb.200306134
-
Gerasimenko JV, Maruyama Y, Yano K, et al. NAADP mobilizes Ca2+ from a thapsigarginsensitive store in the nuclear envelope by activating ryanodine receptors. J. Cell Biol. 163, 271-282 (2003). (Pubitemid 37363128)
-
(2003)
Journal of Cell Biology
, vol.163
, Issue.2
, pp. 271-282
-
-
Gerasimenko, J.V.1
Maruyama, Y.2
Yano, K.3
Dolman, N.J.4
Tepikin, A.V.5
Petersen, O.H.6
Gerasimenko, O.V.7
-
43
-
-
0029592656
-
Dihydropyridine receptor-ryanodine receptor interactions in skeletal muscle excitation-contraction coupling
-
DOI 10.1007/BF01788371
-
Meissner G, Lu X: Dihydropyridine receptor-ryanodine receptor interactions in skeletal muscle excitation-contraction coupling. Biosci. Rep. 15, 399-408 (1995). (Pubitemid 26050858)
-
(1995)
Bioscience Reports
, vol.15
, Issue.5
, pp. 399-408
-
-
Meissner, G.1
Lu, X.2
-
44
-
-
0036514152
-
Regulation of calcium release by interdomain interaction within ryanodine receptors
-
Ikemoto N, Yamamoto T: Regulation of calcium release by interdomain interaction within ryanodine receptors. Front Biosci. 7, D671-D683 (2002).
-
(2002)
Front Biosci.
, vol.7
-
-
Ikemoto, N.1
Yamamoto, T.2
-
45
-
-
0036930754
-
1S-dihydropyridine receptors in skeletal muscle
-
Protasi F, Paolini C, Nakai J, Beam KG, Franzini-Armstrong C, Allen PD: Multiple regions of RyR1 mediate functional and structural interactions with a(1S)-dihydropyridine receptors in skeletal muscle. Biophys. J. 83, 3230-3244 (2002). (Pubitemid 36041942)
-
(2002)
Biophysical Journal
, vol.83
, Issue.6
, pp. 3230-3244
-
-
Protasi, F.1
Paolini, C.2
Nakai, J.3
Beam, K.G.4
Franzini-Armstrong, C.5
Allen, P.D.6
-
46
-
-
4444357468
-
Ryanodine receptor defects in muscle genetic diseases
-
DOI 10.1016/j.bbrc.2004.08.029, PII S0006291X04017590
-
Brini M: Ryanodine receptor defects in muscle genetic diseases. Biochem. Biophys. Res. Commun. 322, 1245-1255 (2004). (Pubitemid 39164654)
-
(2004)
Biochemical and Biophysical Research Communications
, vol.322
, Issue.4
, pp. 1245-1255
-
-
Brini, M.1
-
47
-
-
0033624484
-
Ca2+ signalling and muscle disease
-
MacLennan DH: Ca2+ signalling and muscle disease. Eur. J. Biochem. 267, 5291-5297 (2000).
-
(2000)
Eur. J. Biochem.
, vol.267
, pp. 5291-5297
-
-
MacLennan, D.H.1
-
48
-
-
0036376090
-
Calcium regulation and muscle disease
-
Gommans IM, Vlak MH, de Haan A, van Engelen BG: Calcium regulation and muscle disease. J. Muscle Res. Cell Motil. 23, 59-63 (2002).
-
(2002)
J. Muscle Res. Cell Motil.
, vol.23
, pp. 59-63
-
-
Gommans, I.M.1
Vlak, M.H.2
De Haan, A.3
Van Engelen, B.G.4
-
49
-
-
34447108734
-
Molecular basis of the CRAC channel
-
DOI 10.1016/j.ceca.2007.03.002, PII S0143416007000620
-
Cahalan MD, Zhang SL, Yeromin AV, Ohlsen K, Roos J, Stauderman KA: Molecular basis of the CRAC channel. Cell Calcium 42, 133-144 (2007). (Pubitemid 47029601)
-
(2007)
Cell Calcium
, vol.42
, Issue.2
, pp. 133-144
-
-
Cahalan, M.D.1
Zhang, S.L.2
Yeromin, A.V.3
Ohlsen, K.4
Roos, J.5
Stauderman, K.A.6
-
50
-
-
34548783827
-
2+ store determines gating of store operated calcium entry in mammalian skeletal muscle
-
DOI 10.1007/s10974-007-9105-x
-
Gonzalez Narvaez AA, Castillo A: Ca2+ store determines gating of store operated calcium entry in mammalian skeletal muscle. J. Muscle Res. Cell Motil. 28, 105-113 (2007). (Pubitemid 47434725)
-
(2007)
Journal of Muscle Research and Cell Motility
, vol.28
, Issue.2-3
, pp. 105-113
-
-
Gonzalez Narvaez, A.A.1
Castillo, A.2
-
51
-
-
0038412004
-
Junctional membrane structure and store operated calcium entry in muscle cells
-
a1-d305
-
Ma J, Pan Z: Junctional membrane structure and store operated calcium entry in muscle cells. Front Biosci. 8, D242-D255 (2003). (Pubitemid 39069975)
-
(2003)
Frontiers in Bioscience
, vol.8
-
-
Ma, J.1
Pan, Z.2
-
53
-
-
0038408722
-
2+ pools in primary human skeletal muscle cells
-
DOI 10.1007/s00210-003-0705-8
-
Weigl L, Zidar A, Gscheidlinger R, Karel A, Hohenegger M: Store operated Ca2+ influx by selective depletion of ryanodine sensitive Ca2+ pools in primary human skeletal muscle cells. Naunyn Schmiedebergs Arch. Pharmacol. 367, 353-363 (2003). (Pubitemid 36535303)
-
(2003)
Naunyn-Schmiedeberg's Archives of Pharmacology
, vol.367
, Issue.4
, pp. 353-363
-
-
Weigl, L.1
Zidar, A.2
Gscheidlinger, R.3
Karel, A.4
Hohenegger, M.5
-
54
-
-
0035867041
-
2+ entry into mouse skeletal muscle fibres
-
DOI 10.1111/j.1469-7793.2001.0185b.x
-
Kurebayashi N, Ogawa Y: Depletion of Ca2+ in the sarcoplasmic reticulum stimulates Ca2+ entry into mouse skeletal muscle fibres. J. Physiol. 533, 185-199 (2001). (Pubitemid 32499371)
-
(2001)
Journal of Physiology
, vol.533
, Issue.1
, pp. 185-199
-
-
Kurebayashi, N.1
Ogawa, Y.2
-
56
-
-
21044439334
-
2+ channel function
-
DOI 10.1083/jcb.200502019
-
Roos J, DiGregorio PJ, Yeromin AV, et al. STIM1, an essential and conserved component of store-operated Ca2+ channel function. J. Cell Biol. 169, 435-445 (2005). (Pubitemid 40686694)
-
(2005)
Journal of Cell Biology
, vol.169
, Issue.3
, pp. 435-445
-
-
Roos, J.1
DiGregorio, P.J.2
Yeromin, A.V.3
Ohlsen, K.4
Lioudyno, M.5
Zhang, S.6
Safrina, O.7
Kozak, J.A.8
Wagner, S.L.9
Cahalan, M.D.10
Velicelebi, G.11
Stauderman, K.A.12
-
57
-
-
27144515996
-
2+ store to the plasma membrane
-
DOI 10.1038/nature04147, PII N04147
-
Zhang SL, Yu Y, Roos J, et al. STIM1 is a Ca2+ sensor that activates CRAC channels and migrates from the Ca2+ store to the plasma membrane. Nature 437, 902-905 (2005). (Pubitemid 41486767)
-
(2005)
Nature
, vol.437
, Issue.7060
, pp. 902-905
-
-
Zhang, S.L.1
Yu, Y.2
Roos, J.3
Kozak, J.A.4
Deerinck, T.J.5
Ellisman, M.H.6
Stauderman, K.A.7
Cahalan, M.D.8
-
58
-
-
33744524661
-
Functional coupling between TRPC3 and RyR1 regulates the expressions of key triadic proteins
-
DOI 10.1074/jbc.M600981200
-
Lee EH, Cherednichenko G, Pessah IN, Allen PD: Functional coupling between TRPC3 and RyR1 regulates the expressions of key triadic proteins. J. Biol. Chem. 281, 10042-10048 (2006). (Pubitemid 43864538)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.15
, pp. 10042-10048
-
-
Eun, H.L.1
Cherednichenko, G.2
Pessah, I.N.3
Allen, P.D.4
-
59
-
-
2942598086
-
TRPC3-like protein and vitamin D receptor mediate 1a,25(OH)2D3-induced SOC influx in muscle cells
-
Santillan G, Katz S, Vazquez G, Boland RL: TRPC3-like protein and vitamin D receptor mediate 1a,25(OH)2D3-induced SOC influx in muscle cells. Int. J. Biochem. Cell Biol. 36, 1910-1918 (2004).
-
(2004)
Int. J. Biochem. Cell Biol.
, vol.36
, pp. 1910-1918
-
-
Santillan, G.1
Katz, S.2
Vazquez, G.3
Boland, R.L.4
-
60
-
-
4143050320
-
3 receptors and/or calcium store depletion
-
DOI 10.1083/jcb.200404079
-
Treves S, Franzini-Armstrong C, Moccagatta L, et al. Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion. J. Cell Biol. 166, 537-548 (2004). (Pubitemid 39097173)
-
(2004)
Journal of Cell Biology
, vol.166
, Issue.4
, pp. 537-548
-
-
Treves, S.1
Franzini-Armstrong, C.2
Moccagatta, L.3
Arnoult, C.4
Grasso, C.5
Schrum, A.6
Ducreux, S.7
Zhu, M.X.8
Mikoshiba, K.9
Girard, T.10
Smida-Rezgui, S.11
Ronjat, M.12
Zorzato, F.13
-
61
-
-
21644451189
-
The foot structure from the type 1 ryanodine receptor is required for functional coupling to store-operated channels
-
DOI 10.1074/jbc.M501487200
-
Sampieri A, Diaz-Munoz M, Antaramian A, Vaca L: The foot structure from the type 1 ryanodine receptor is required for functional coupling to store-operated channels. J. Biol. Chem. 280, 24804-24815 (2005). (Pubitemid 40934571)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.26
, pp. 24804-24815
-
-
Sampieri, A.1
Diaz-Munoz, M.2
Antaramian, A.3
Vaca, L.4
-
62
-
-
44649097618
-
STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle
-
DOI 10.1038/ncb1731, PII NCB1731
-
Stiber J, Hawkins A, Zhang ZS, et al. STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle. Nat. Cell Biol. 10, 688-697 (2008). (Pubitemid 351772934)
-
(2008)
Nature Cell Biology
, vol.10
, Issue.6
, pp. 688-697
-
-
Stiber, J.1
Hawkins, A.2
Zhang, Z.-S.3
Wang, S.4
Burch, J.5
Graham, V.6
Ward, C.C.7
Seth, M.8
Finch, E.9
Malouf, N.10
Williams, R.S.11
Eu, J.P.12
Rosenberg, P.13
-
63
-
-
8144224798
-
2+ entry by depolarization of skeletal myotubes
-
DOI 10.1073/pnas.0403485101
-
Cherednichenko G, Hurne AM, Fessenden JD, et al. Conformational activation of Ca2+ entry by depolarization of skeletal myotubes. Proc. Natl. Acad. Sci. USA 101, 15793-15798 (2004). (Pubitemid 39473567)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.44
, pp. 15793-15798
-
-
Cherednichenko, G.1
Hurne, A.M.2
Fessenden, J.D.3
Lee, E.H.4
Allen, P.D.5
Beam, K.G.6
Pessah, I.N.7
-
64
-
-
2942670996
-
RyR1 exhibits lower gain of CICR activity than RyR3 in the SR: Evidence for selective stabilization of RyR1 channel
-
DOI 10.1152/ajpcell.00395.2003
-
Murayama T, Ogawa Y: RyR1 exhibits lower gain of CICR activity than RyR3 in the SR: evidence for selective stabilization of RyR1 channel. Am. J. Physiol. Cell Physiol. 287, C36-C45 (2004). (Pubitemid 38780150)
-
(2004)
American Journal of Physiology - Cell Physiology
, vol.287
, Issue.1
-
-
Murayama, T.1
Ogawa, Y.2
-
65
-
-
38549167375
-
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia
-
DOI 10.1097/01.anes.0000299431.81267.3e, PII 0000054220080200000008
-
Anderson AA, Brown RL, Polster B, Pollock N, Stowell KM: Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. Anesthesiology 108, 208-215 (2008). (Pubitemid 351156730)
-
(2008)
Anesthesiology
, vol.108
, Issue.2
, pp. 208-215
-
-
Anderson, A.A.1
Brown, R.L.2
Polster, B.3
Pollock, N.4
Stowell, K.M.5
-
66
-
-
18644367368
-
Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes
-
DOI 10.1097/00000542-200211000-00005
-
Sei Y, Brandom BW, Bina S, et al. Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes. Anesthesiology 97, 1052-1058 (2002). (Pubitemid 35265555)
-
(2002)
Anesthesiology
, vol.97
, Issue.5
, pp. 1052-1058
-
-
Sei, Y.1
Brandom, B.W.2
Bina, S.3
Hosoi, E.4
Gallagher, K.L.5
Wyre, H.W.6
Pudimat, P.A.7
Holman, S.J.8
Venzon, D.J.9
Daly, J.W.10
Muldoon, S.11
-
67
-
-
0030666554
-
2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease
-
DOI 10.1074/jbc.272.42.26332
-
Tong J, Oyamada H, Demaurex N, Grinstein S, McCarthy TV, MacLennan DH: Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J. Biol. Chem. 272, 26332-26339 (1997). (Pubitemid 27458847)
-
(1997)
Journal of Biological Chemistry
, vol.272
, Issue.42
, pp. 26332-26339
-
-
Tong, J.1
Oyamada, H.2
Demaurex, N.3
Grinstein, S.4
McCarthy, T.V.5
MacLennan, D.H.6
-
68
-
-
0029976239
-
4-chloro-m-cresol, a potent and specific activator of the skeletal muscle ryanodine receptor
-
DOI 10.1016/0304-4165(95)00131-X
-
Herrmann-Frank A, Richter M, Sarkozi S, Mohr U, Lehmann-Horn F: 4chloromcresol, a potent and specific activator of the skeletal muscle ryanodine receptor. Biochim. Biophys. Acta. 1289, 31-40 (1996). (Pubitemid 26075668)
-
(1996)
Biochimica et Biophysica Acta - General Subjects
, vol.1289
, Issue.1
, pp. 31-40
-
-
Herrmann-Frank, A.1
Richter, M.2
Sarkozi, S.3
Mohr, U.4
Lehmann-Horn, F.5
-
69
-
-
41949104884
-
2+, and ATP
-
DOI 10.1152/ajpcell.90642.2007
-
Diaz-Sylvester PL, Porta M, Copello JA: Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP. Am. J. Physiol. Cell Physiol. 294, C1103-C1112 (2008). (Pubitemid 351507910)
-
(2008)
American Journal of Physiology - Cell Physiology
, vol.294
, Issue.4
-
-
Diaz-Sylvester, P.L.1
Porta, M.2
Copello, J.A.3
-
70
-
-
33845952839
-
Azumolene inhibits a component of store-operated calcium entry coupled to the skeletal muscle ryanodine receptor
-
DOI 10.1074/jbc.M602306200
-
Zhao X, Weisleder N, Han X, et al. Azumolene inhibits a component of store-operated calcium entry coupled to the skeletal muscle ryanodine receptor. J. Biol. Chem. 281, 33477-33486 (2006). (Pubitemid 46036729)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.44
, pp. 33477-33486
-
-
Zhao, X.1
Weisleder, N.2
Han, X.3
Pan, Z.4
Parness, J.5
Brotto, M.6
Ma, J.7
-
71
-
-
0037815064
-
Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling
-
DOI 10.1074/jbc.M302165200
-
Yang T, Ta TA, Pessah IN, Allen PD: Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J. Biol. Chem. 278, 25722-25730 (2003). (Pubitemid 36835328)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.28
, pp. 25722-25730
-
-
Yang, T.1
Ta, T.A.2
Pessah, I.N.3
Allen, P.D.4
-
72
-
-
2942711417
-
2+ channel regulation by interdomain interaction within the ryanodine receptor
-
DOI 10.1042/BJ20040112
-
Kobayashi S, Yamamoto T, Parness J, Ikemoto N: Antibody probe study of Ca2+ channel regulation by interdomain interaction within the ryanodine receptor. Biochem. J. 380, 561-569 (2004). (Pubitemid 38788128)
-
(2004)
Biochemical Journal
, vol.380
, Issue.2
, pp. 561-569
-
-
Kobayashi, S.1
Yamamoto, T.2
Parness, J.3
Ikemoto, N.4
-
73
-
-
14844288291
-
Dantrolene stabilizes domain interactions within the ryanodine receptor
-
DOI 10.1074/jbc.M408375200
-
Kobayashi S, Bannister ML, Gangopadhyay JP, Hamada T, Parness J, Ikemoto N: Dantrolene stabilizes domain interactions within the ryanodine receptor. J. Biol. Chem. 280, 6580-6587 (2005). (Pubitemid 40341208)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.8
, pp. 6580-6587
-
-
Kobayashi, S.1
Bannister, M.L.2
Gangopadhyay, J.P.3
Hamada, T.4
Parness, J.5
Ikemoto, N.6
-
74
-
-
33748331343
-
2+ release channels: Insight into molecular changes in genetically-linked myopathies
-
DOI 10.1007/s10974-006-9086-1
-
Dulhunty AF, Beard NA, Pouliquin P, Kimura T: Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies. J. Muscle Res. Cell Motil. 27, 351-365 (2006). (Pubitemid 44325614)
-
(2006)
Journal of Muscle Research and Cell Motility
, vol.27
, Issue.5-7
, pp. 351-365
-
-
Dulhunty, A.F.1
Beard, N.A.2
Pouliquin, P.3
Kimura, T.4
-
75
-
-
18344375700
-
Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients
-
DOI 10.1254/jjp.88.159
-
Oyamada H, Oguchi K, Saitoh N, et al. Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. Jpn. J. Pharmacol. 88, 159-166 (2002). (Pubitemid 34223565)
-
(2002)
Japanese Journal of Pharmacology
, vol.88
, Issue.2
, pp. 159-166
-
-
Oyamada, H.1
Oguchi, K.2
Saitoh, N.3
Yamazawa, T.4
Hirose, K.5
Kawana, Y.6
Wakatsuki, K.7
Oguchi, K.8
Tagami, M.9
Hanaoka, K.10
Endo, M.11
Iino, M.12
-
76
-
-
0041461851
-
Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript
-
DOI 10.1097/00000542-200308000-00011
-
Loke JC, Kraev N, Sharma P, et al. Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. Anesthesiology 99, 297-302 (2003). (Pubitemid 36909555)
-
(2003)
Anesthesiology
, vol.99
, Issue.2
, pp. 297-302
-
-
Loke, J.C.P.1
Kraev, N.2
Sharma, P.3
Du, G.4
Patel, L.5
Kraev, A.6
MacLennan, D.H.7
-
77
-
-
0032528909
-
Expression of ryanodine receptors in human embryonic kidney (HEK293) cells
-
Querfurth HW, Haughey NJ, Greenway SC, Yacono PW, Golan DE, Geiger JD: Expression of ryanodine receptors in human embryonic kidney (HEK293) cells. Biochem. J. 334 (Pt 1), 79-86 (1998). (Pubitemid 28420974)
-
(1998)
Biochemical Journal
, vol.334
, Issue.1
, pp. 79-86
-
-
Querfurth, H.W.1
Haughey, N.J.2
Greenway, S.C.3
Yacono, P.W.4
Golan, D.E.5
Geiger, J.D.6
-
78
-
-
0030864336
-
2+ release channels
-
DOI 10.1085/jgp.110.6.749
-
Bhat MB, Zhao J, Zang W, et al. Caffeine-induced release of intracellular Ca2+ from Chinese hamster ovary cells expressing skeletal muscle ryanodine receptor. Effects on full-length and carboxyl-terminal portion of Ca2+ release channels. J. Gen. Physiol. 110, 749-762 (1997). (Pubitemid 27524613)
-
(1997)
Journal of General Physiology
, vol.110
, Issue.6
, pp. 749-762
-
-
Bhat, M.B.1
Zhao, J.2
Zang, W.3
Balke, C.W.4
Takeshima, H.5
Wier, W.G.6
Ma, J.7
-
79
-
-
0035660572
-
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
-
Tilgen N, Zorzato F, Halliger-Keller B, et al. 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. Hum. Mol. Genet. 10, 2879-2887 (2001). (Pubitemid 34030919)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.25
, pp. 2879-2887
-
-
Tilgen, N.1
Zorzato, F.2
Halliger-Keller, B.3
Muntoni, F.4
Sewry, C.5
Palmucci, L.M.6
Schneider, C.7
Hauser, E.8
Lehmann-Horn, F.9
Muller, C.R.10
Treves, S.11
-
80
-
-
0242330178
-
Calcium Release from Sarcoplasmic Reticulum Is Facilitated in Human Myotubes Derived from Carriers of the Ryanodine Receptor Type 1 Mutations Ile2182Phe and Gly2375Ala
-
DOI 10.1089/109065703322537214
-
Wehner M, Rueffert H, Koenig F, Olthoff D: Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala. Genet. Test. 7, 203-211 (2003). (Pubitemid 37363079)
-
(2003)
Genetic Testing
, vol.7
, Issue.3
, pp. 203-211
-
-
Wehner, M.1
Rueffert, H.2
Koenig, F.3
Olthoff, D.4
-
81
-
-
0036705958
-
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation
-
DOI 10.1034/j.1399-0004.2002.620206.x
-
Wehner M, Rueffert H, Koenig F, Neuhaus J, Olthoff D: Increased sensitivity to 4′chloromcresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. Clin. Genet. 62, 135-146 (2002). (Pubitemid 36372713)
-
(2002)
Clinical Genetics
, vol.62
, Issue.2
, pp. 135-146
-
-
Wehner, M.1
Rueffert, H.2
Koenig, F.3
Neuhaus, J.4
Olthoff, D.5
-
82
-
-
0035876977
-
Abnormal uptake and release of Ca2+ ions from human malignant hyperthermiasusceptible sarcoplasmic reticulum
-
OSullivan GH, McIntosh JM, Heffron JJ: Abnormal uptake and release of Ca2+ ions from human malignant hyperthermiasusceptible sarcoplasmic reticulum. Biochem. Pharmacol. 61, 1479-1485 (2001).
-
(2001)
Biochem. Pharmacol.
, vol.61
, pp. 1479-1485
-
-
Osullivan, G.H.1
McIntosh, J.M.2
Heffron, J.J.3
-
83
-
-
0036144728
-
2+ spark frequency in skeletal muscle
-
DOI 10.1085/jgp.119.1.15
-
Shtifman A, Ward CW, Yamamoto T, et al. Interdomain interactions within ryanodine receptors regulate Ca(2)+ spark frequency in skeletal muscle. J. Gen. Physiol. 119, 15-32 (2002). (Pubitemid 34074590)
-
(2002)
Journal of General Physiology
, vol.119
, Issue.1
, pp. 15-31
-
-
Shtifman, A.1
Ward, C.W.2
Yamamoto, T.3
Wang, J.4
Olbinski, B.5
Valdivia, H.H.6
Ikemoto, N.7
Schneider, M.F.8
-
84
-
-
0036794325
-
Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells
-
DOI 10.1093/bja/aef237
-
Girard T, Treves S, Censier K, Mueller CR, Zorzato F, Urwyler A: Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells. Br. J. Anaesth. 89, 571-579 (2002). (Pubitemid 35153779)
-
(2002)
British Journal of Anaesthesia
, vol.89
, Issue.4
, pp. 571-579
-
-
Girard, T.1
Treves, S.2
Censier, K.3
Mueller, C.R.4
Zorzato, F.5
Urwyler, A.6
-
85
-
-
33644882215
-
Heat-and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse
-
Chelu MG, Goonasekera SA, Durham WJ, et al. Heat-and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. Faseb. J. 20, 329-330 (2006).
-
(2006)
Faseb. J.
, vol.20
, pp. 329-330
-
-
Chelu, M.G.1
Goonasekera, S.A.2
Durham, W.J.3
-
86
-
-
33751307170
-
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse
-
DOI 10.1097/00000542-200612000-00016, PII 0000054220061200000016
-
Yang T, Riehl J, Esteve E, et al. Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology 105, 1164-1175 (2006). (Pubitemid 44808580)
-
(2006)
Anesthesiology
, vol.105
, Issue.6
, pp. 1164-1175
-
-
Yang, T.1
Riehl, J.2
Esteve, E.3
Matthaei, K.I.4
Goth, S.5
Allen, P.D.6
Pessah, I.N.7
Lopez, J.R.8
-
87
-
-
40849105138
-
Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms
-
Ogawa Y: Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms. Biochem. Biophys. Res. Commun. 369, 208-212 (2008).
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.369
, pp. 208-212
-
-
Ogawa, Y.1
-
88
-
-
17644363740
-
2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations
-
DOI 10.1074/jbc.M410421200
-
Brini M, Manni S, Pierobon N, et al. Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. J. Biol. Chem. 280, 15380-15389 (2005). (Pubitemid 40562895)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.15
, pp. 15380-15389
-
-
Brini, M.1
Manni, S.2
Pierobon, N.3
Guo, G.D.4
Sharma, P.5
MacLennan, D.H.6
Carafoli, E.7
-
89
-
-
0033534461
-
2+ release channels
-
Tong J, McCarthy TV, MacLennan DH: Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J. Biol. Chem. 274, 693-702 (1999). (Pubitemid 129535224)
-
(1999)
Journal of Biological Chemistry
, vol.274
, Issue.2
, pp. 693-702
-
-
Tong, J.1
McCarthy, T.V.2
MacLennan, D.H.3
-
90
-
-
0035889250
-
2+-release channel (ryanodine receptor isoform 1)
-
DOI 10.1042/0264-6021:3600097
-
Du GG, Oyamada H, Khanna VK, MacLennan DH: Mutations to Gly2370, Gly2373 or Gly2375 in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+-release channel (ryanodine receptor isoform 1). Biochem. J. 360, 97-105. (2001). (Pubitemid 33081953)
-
(2001)
Biochemical Journal
, vol.360
, Issue.1
, pp. 97-105
-
-
Du, G.G.1
Oyamada, H.2
Khanna, V.K.3
MacLennan, D.H.4
-
91
-
-
0028170142
-
Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia
-
Treves S, Larini F, Menegazzi P, et al. Alteration of intracellular Ca2+ transients in COS7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia. Biochem. J. 301, 661-665 (1994). (Pubitemid 2118776)
-
(1994)
Biochemical Journal
, vol.301
, Issue.3
, pp. 661-665
-
-
Treves, S.1
Larini, F.2
Menegazzi, P.3
Steinberg, T.H.4
Koval, M.5
Vilsen, B.6
Andersen, J.P.7
Zorzato, F.8
-
92
-
-
0035126580
-
2+ release and influx in human B lymphocytes
-
DOI 10.1054/ceca.2000.0175
-
Sei Y, Gallagher KL, Daly JW: Multiple effects of caffeine on Ca2+ release and influx in human B lymphocytes. Cell Calcium 29, 149-160 (2001). (Pubitemid 32184386)
-
(2001)
Cell Calcium
, vol.29
, Issue.3
, pp. 149-160
-
-
Sei, Y.1
Gallagher, K.L.2
Daly, J.W.3
-
93
-
-
33846582465
-
Defective Mg(2+) regulation of RyR1 as a causal factor in malignant hyperthermia
-
Steele DS, Duke AM: Defective Mg(2+) regulation of RyR1 as a causal factor in malignant hyperthermia. Arch. Biochem. Biophys. 458, 57-64 (2007).
-
(2007)
Arch. Biochem. Biophys.
, vol.458
, pp. 57-64
-
-
Steele, D.S.1
Duke, A.M.2
-
94
-
-
0037144585
-
Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptor
-
Paul-Pletzer K, Yamamoto T, Bhat MB, et al. Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptor. J. Biol. Chem. 277, 34918-34923 (2002).
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 34918-34923
-
-
Paul-Pletzer, K.1
Yamamoto, T.2
Bhat, M.B.3
-
95
-
-
41149098152
-
Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene
-
DOI 10.1124/mol.107.043299
-
Cherednichenko G, Ward CW, Feng W, et al. Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene. Mol. Pharmacol. 73, 1203-1212 (2008). (Pubitemid 351439202)
-
(2008)
Molecular Pharmacology
, vol.73
, Issue.4
, pp. 1203-1212
-
-
Cherednichenko, G.1
Ward, C.W.2
Feng, W.3
Cabrales, E.4
Michaelson, L.5
Samso, M.6
Lopez, J.R.7
Allen, P.D.8
Pessah, I.N.9
-
96
-
-
33747045217
-
Excitation-contraction coupling from the 1950s into the new millennium
-
Dulhunty AF: Excitation-contraction coupling from the 1950s into the new millennium. Clin. Exp. Pharmacol. Physiol. 33, 763-772 (2006).
-
(2006)
Clin. Exp. Pharmacol. Physiol.
, vol.33
, pp. 763-772
-
-
Dulhunty, A.F.1
-
97
-
-
32944471251
-
2+ channels
-
DOI 10.1042/BJ20051373
-
Bannister ML, Ikemoto N: Effects of peptide C corresponding to the Glu724′Pro760 region of the II-III loop of the DHP (dihydropyridine) receptor a1 subunit on the domain-switch-mediated activation of RyR1 (ryanodine receptor 1) Ca2+ channels. Biochem. J. 394, 145-152 (2006). (Pubitemid 43259664)
-
(2006)
Biochemical Journal
, vol.394
, Issue.1
, pp. 145-152
-
-
Bannister, M.L.1
Ikemoto, N.2
-
98
-
-
33846285764
-
2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area
-
DOI 10.1042/BJ20060902
-
Bannister ML, Hamada T, Murayama T, et al. Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area. Biochem. J. 401, 333-339 (2007). (Pubitemid 46114626)
-
(2007)
Biochemical Journal
, vol.401
, Issue.1
, pp. 333-339
-
-
Bannister, M.L.1
Hamada, T.2
Murayama, T.3
Harvey, P.J.4
Casarotto, M.G.5
Dulhunty, A.F.6
Ikemoto, N.7
-
99
-
-
17644397536
-
Regulation of skeletal ryanodine receptors by dihydropyridine receptor II-III loop C-region peptides: Relief of Mg2+ inhibition
-
Haarmann CS, Dulhunty AF, Laver DR: Regulation of skeletal ryanodine receptors by dihydropyridine receptor II-III loop C-region peptides: relief of Mg2+ inhibition. Biochem. J. 387, 429-436 (2005).
-
(2005)
Biochem. J.
, vol.387
, pp. 429-436
-
-
Haarmann, C.S.1
Dulhunty, A.F.2
Laver, D.R.3
-
100
-
-
53149154880
-
The 1S III-IV loop influences 1,4′dihydropyridine receptor gating but is not directly involved in excitation-contraction coupling interactions with the type 1 ryanodine receptor
-
Bannister RA, Grabner M, Beam KG: The 1S III-IV loop influences 1,4′dihydropyridine receptor gating but is not directly involved in excitation-contraction coupling interactions with the type 1 ryanodine receptor. J. Biol. Chem. 283, 23217-23223 (2008).
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 23217-23223
-
-
Bannister, R.A.1
Grabner, M.2
Beam, K.G.3
-
101
-
-
13644264675
-
i
-
DOI 10.1152/ajpcell.00297.2004
-
Lopez JR, Linares N, Pessah IN, Allen PD: Enhanced response to caffeine and 4′chloromcresol in malignant hyperthermiasusceptible muscle is related in part to chronically elevated resting [Ca2+]i. Am. J. Physiol. Cell Physiol. 288, C606-12 (2005). (Pubitemid 40229489)
-
(2005)
American Journal of Physiology - Cell Physiology
, vol.288
, Issue.3
-
-
Lopez, J.R.1
Linares, N.2
Pessah, I.N.3
Allen, P.D.4
-
102
-
-
0034849005
-
Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor
-
DOI 10.1085/jgp.118.3.277
-
Avila G, Dirksen RT: Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J. Gen. Physiol. 118, 277-290 (2001). (Pubitemid 32845963)
-
(2001)
Journal of General Physiology
, vol.118
, Issue.3
, pp. 277-290
-
-
Avila, G.1
Dirksen, R.T.2
-
103
-
-
34250656580
-
i in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR
-
DOI 10.1152/ajpcell.00133.2006
-
Yang T, Esteve E, Pessah IN, Molinski TF, Allen PD, Lopez JR: Elevated resting [Ca(2+)] (i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR. Am. J. Physiol. Cell Physiol. 292, C1591-C1598 (2007). (Pubitemid 47080573)
-
(2007)
American Journal of Physiology - Cell Physiology
, vol.292
, Issue.5
-
-
Yang, T.1
Esteve, E.2
Pessah, I.N.3
Molinski, T.F.4
Allen, P.D.5
Lopez, J.R.6
-
104
-
-
33847716272
-
Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia
-
DOI 10.1042/BJ20061040
-
Murayama T, Oba T, Hara H, Wakebe K, Ikemoto N, Ogawa Y: Postulated role of interdomain interaction between regions 1 and within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia. Biochem. J. 402, 349-357 (2007). (Pubitemid 46383432)
-
(2007)
Biochemical Journal
, vol.402
, Issue.2
, pp. 349-357
-
-
Murayama, T.1
Oba, T.2
Hara, H.3
Wakebe, K.4
Ikemoto, N.5
Ogawa, Y.6
-
105
-
-
42449102264
-
SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling
-
DOI 10.1042/BJ20070906
-
Bleunven C, Treves S, Jinyu X, et al. SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling. Biochem. J. 411, 343-349 (2008). (Pubitemid 351580186)
-
(2008)
Biochemical Journal
, vol.411
, Issue.2
, pp. 343-349
-
-
Bleunven, C.1
Treves, S.2
Jinyu, X.3
Leo, E.4
Ronjat, M.5
De Waard, M.6
Kern, G.7
Flucher, B.E.8
Zorzato, F.9
-
106
-
-
27444438087
-
Novel sarco(endo)plasmic reticulum proteins and calcium homeostasis in striated muscles
-
DOI 10.1007/s10974-005-9001-1
-
Divet A, Paesante S, Bleunven C, Anderson A, Treves S, Zorzato F: Novel sarco(endo)plasmic reticulum proteins and calcium homeostasis in striated muscles. J. Muscle Res. Cell Motil. 26, 7-12 (2005). (Pubitemid 41531494)
-
(2005)
Journal of Muscle Research and Cell Motility
, vol.26
, Issue.1
, pp. 7-12
-
-
Divet, A.1
Paesante, S.2
Bleunven, C.3
Anderson, A.4
Treves, S.5
Zorzato, F.6
-
107
-
-
33645297641
-
A possible role of the junctional face protein JP45 in modulating Ca2+ release in skeletal muscle
-
Gouadon E, Schuhmeier RP, Ursu D, et al. A possible role of the junctional face protein JP45 in modulating Ca2+ release in skeletal muscle. J. Physiol. 572, 269-280 (2006).
-
(2006)
J. Physiol.
, vol.572
, pp. 269-280
-
-
Gouadon, E.1
Schuhmeier, R.P.2
Ursu, D.3
-
108
-
-
34248593731
-
2+-binding transmembrane protein on the endoplasmic reticulum
-
DOI 10.1016/j.ceca.2006.11.009, PII S014341600600217X
-
Zhang M, Yamazaki T, Yazawa M, et al. Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum. Cell Calcium 42, 83-90 (2007). (Pubitemid 46760456)
-
(2007)
Cell Calcium
, vol.42
, Issue.1
, pp. 83-90
-
-
Zhang, M.1
Yamazaki, T.2
Yazawa, M.3
Treves, S.4
Nishi, M.5
Murai, M.6
Shibata, E.7
Zorzato, F.8
Takeshima, H.9
-
109
-
-
42449101304
-
TRPC3-interacting triadic proteins in skeletal muscle
-
Woo JS, Kim do H, Allen PD, Lee EH: TRPC3-interacting triadic proteins in skeletal muscle. Biochem. J. 411, 399-405 (2008).
-
(2008)
Biochem. J.
, vol.411
, pp. 399-405
-
-
Woo, J.S.1
Kim Do, H.2
Allen, P.D.3
Lee, E.H.4
-
110
-
-
2442614036
-
2+ release
-
DOI 10.1074/jbc.C400030200
-
Pan Z, Hirata Y, Nagaraj RY, et al. Co-expression of MG29 and ryanodine receptor leads to apoptotic cell death: effect mediated by intracellular Ca2+ release. J. Biol. Chem. 279, 19387-19390 (2004). (Pubitemid 38623370)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.19
, pp. 19387-19390
-
-
Pan, Z.1
Hirata, Y.2
Nagaraj, R.Y.3
Zhao, J.4
Nishi, M.5
Hayek, S.M.6
Bhat, M.B.7
Takeshima, H.8
Ma, J.9
-
111
-
-
0036098555
-
Dysfunction of store-operated calcium channel in muscle cells lacking mg29
-
DOI 10.1038/ncb788
-
Pan Z, Yang D, Nagaraj RY, et al. Dysfunction of store-operated calcium channel in muscle cells lacking mg29. Nat. Cell Biol. 4, 379-383 (2002). (Pubitemid 34521034)
-
(2002)
Nature Cell Biology
, vol.4
, Issue.5
, pp. 379-383
-
-
Pan, Z.1
Yang, D.2
Nagaraj, R.Y.3
Nosek, T.A.4
Nishi, M.5
Takeshima, H.6
Cheng, H.7
Ma, J.8
-
112
-
-
34748893872
-
Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation-contraction coupling
-
DOI 10.1085/jgp.200709790
-
Goonasekera SA, Beard NA, Groom L, et al. Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction coupling. J. Gen. Physiol. 130, 365-378 (2007). (Pubitemid 47481600)
-
(2007)
Journal of General Physiology
, vol.130
, Issue.4
, pp. 365-378
-
-
Goonasekera, S.A.1
Beard, N.A.2
Groom, L.3
Kimura, T.4
Lyfenko, A.D.5
Rosenfeld, A.6
Marty, I.7
Dulhunty, A.F.8
Dirksen, R.T.9
-
113
-
-
33845700796
-
Retrograde regulation of store-operated calcium channels by the ryanodine receptor-associated protein triadin 95 in rat skeletal myotubes
-
DOI 10.1016/j.ceca.2006.06.003, PII S0143416006001266
-
Vassilopoulos S, Brocard J, Garcia L, Marty I, Bouron A: Retrograde regulation of storeoperated calcium channels by the ryanodine receptor-associated protein triadin 95 in rat skeletal myotubes. Cell Calcium 41, 179-185 (2007). (Pubitemid 44964460)
-
(2007)
Cell Calcium
, vol.41
, Issue.2
, pp. 179-185
-
-
Vassilopoulos, S.1
Brocard, J.2
Garcia, L.3
Marty, I.4
Bouron, A.5
-
114
-
-
34548342742
-
2+ storage capacity of the skeletal muscle sarcoplasmic reticulum of transgenic mice over-expressing membrane bound calcium binding protein junctate
-
DOI 10.1002/jcp.21121
-
Divet A, Paesante S, Grasso C, et al. Increased Ca2+ storage capacity of the skeletal muscle sarcoplasmic reticulum of transgenic mice over-expressing membrane bound calcium binding protein junctate. J. Cell Physiol. 213, 464-474 (2007). (Pubitemid 47509728)
-
(2007)
Journal of Cellular Physiology
, vol.213
, Issue.2
, pp. 464-474
-
-
Divet, A.1
Paesante, S.2
Grasso, C.3
Cavagna, D.4
Tiveron, C.5
Paolini, C.6
Protasi, F.7
Huchet-Cadiou, C.8
Treves, S.9
Zorzato, F.10
-
115
-
-
33745207385
-
v1.1
-
DOI 10.1242/jcs.02935
-
Anderson AA, Altafaj X, Zheng Z, et al. The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1. J. Cell Sci. 119, 2145-2155 (2006). (Pubitemid 43904969)
-
(2006)
Journal of Cell Science
, vol.119
, Issue.10
, pp. 2145-2155
-
-
Anderson, A.A.1
Altafaj, X.2
Zheng, Z.3
Wang, Z.-M.4
Delbono, O.5
Ronjat, M.6
Treves, S.7
Zorzato, F.8
-
116
-
-
38049132024
-
Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45
-
Delbono O, Xia J, Treves S, et al. Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45. Proc. Natl Acad. Sci. USA 104, 20108-20113 (2007).
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 20108-20113
-
-
Delbono, O.1
Xia, J.2
Treves, S.3
-
118
-
-
4544355520
-
2+ release
-
DOI 10.1042/BJ20040580
-
Du GG, Khanna VK, Guo X, MacLennan DH: Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release. Biochem. J. 382, 557-564 (2004). (Pubitemid 39243922)
-
(2004)
Biochemical Journal
, vol.382
, Issue.2
, pp. 557-564
-
-
Du, G.G.1
Khanna, V.K.2
Guo, X.3
MacLennan, D.H.4
-
119
-
-
33845932952
-
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms
-
DOI 10.1002/humu.20409
-
Lyfenko AD, Ducreux S, Wang Y, et al. Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. Hum. Mutat. 28, 61-68 (2007). (Pubitemid 46036214)
-
(2007)
Human Mutation
, vol.28
, Issue.1
, pp. 61-68
-
-
Lyfenko, A.D.1
Ducreux, S.2
Wang, Y.3
Xu, L.4
Zorzato, F.5
Ferreiro, A.6
Meissner, G.7
Treves, S.8
Dirksen, R.T.9
-
120
-
-
36749097954
-
2+ release channel function and delays development in homozygous offspring of a mutant mouse line
-
DOI 10.1073/pnas.0709312104
-
Zvaritch E, Depreux F, Kraeva N, et al. An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc. Natl Acad. Sci. USA 104, 18537-18542 (2007). (Pubitemid 350210732)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.47
, pp. 18537-18542
-
-
Zvaritch, E.1
Depreux, F.2
Kraeva, N.3
Loy, R.E.4
Goonasekera, S.A.5
Boncompagi, S.6
Kraev, A.7
Gramolini, A.O.8
Dirksen, R.T.9
Franzini-Armstrong, C.10
Seidman, C.E.11
Seidman, J.G.12
MacLennan, D.H.13
-
121
-
-
33748752700
-
Characterization of recessive RYR1 mutations in core myopathies
-
DOI 10.1093/hmg/ddl221
-
Zhou H, Yamaguchi N, Xu L, et al. Characterization of recessive RYR1 mutations in core myopathies. Hum. Mol. Genet. 15, 2791-2803 (2006). (Pubitemid 44400406)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.18
, pp. 2791-2803
-
-
Zhou, H.1
Yamaguchi, N.2
Xu, L.3
Wang, Y.4
Sewry, C.5
Jungbluth, H.6
Zorzato, F.7
Bertini, E.8
Muntoni, F.9
Meissner, G.10
Treves, S.11
-
122
-
-
33751094327
-
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
-
DOI 10.1086/508500
-
Zhou H, Brockington M, Jungbluth H, et al. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am. J. Hum. Genet. 79, 859-868 (2006). (Pubitemid 44763400)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.5
, pp. 859-868
-
-
Zhou, H.1
Brockington, M.2
Jungbluth, H.3
Monk, D.4
Stanier, P.5
Sewry, C.A.6
Moore, G.E.7
Muntoni, F.8
-
123
-
-
0035930557
-
B-lymphocytes from Malignant Hyperthermia-susceptible Patients Have an Increased Sensitivity to Skeletal Muscle Ryanodine Receptor Activators
-
Girard T, Cavagna D, Padovan E, et al. B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J. Biol. Chem. 276, 48077-48082 (2001). (Pubitemid 37370709)
-
(2001)
Journal of Biological Chemistry
, vol.276
, Issue.51
, pp. 48077-48082
-
-
Girard, T.1
Cavagna, D.2
Padovan, E.3
Spagnoli, G.4
Urwyler, A.5
Zorzato, F.6
Treves, S.7
-
124
-
-
33744956995
-
Characterization of ryanodine receptor-mediated calcium release in human B cells: Relevance to diagnostic testing for malignant hyperthermia
-
DOI 10.1097/00000542-200606000-00014, PII 0000054220060600000014
-
McKinney LC, Butler T, Mullen SP, Klein MG: Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia. Anesthesiology 104, 1191-1201 (2006). (Pubitemid 43852952)
-
(2006)
Anesthesiology
, vol.104
, Issue.6
, pp. 1191-1201
-
-
McKinney, L.C.1
Butler, T.2
Mullen, S.P.3
Klein, M.G.4
-
125
-
-
0034892948
-
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families
-
DOI 10.1016/S0960-8966(01)00202-4, PII S0960896601002024
-
Sambuughin N, Nelson TE, Jankovic J, et al. Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromuscul. Disord. 11, 530-537 (2001). (Pubitemid 32761795)
-
(2001)
Neuromuscular Disorders
, vol.11
, Issue.6-7
, pp. 530-537
-
-
Sambuughin, N.1
Nelson, T.E.2
Jankovic, J.3
Xin, C.4
Meissner, G.5
Mullakandov, M.6
Ji, J.7
Rosenberg, H.8
Sivakumar, K.9
Goldfarb, L.G.10
-
126
-
-
2942705812
-
Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model
-
DOI 10.1016/j.nmd.2004.03.011, PII S0960896604000987
-
Wehner M, Rueffert H, Koenig F, Olthoff D: Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model. Neuromuscul. Disord. 14, 429-437 (2004). (Pubitemid 38798261)
-
(2004)
Neuromuscular Disorders
, vol.14
, Issue.7
, pp. 429-437
-
-
Wehner, M.1
Rueffert, H.2
Koenig, F.3
Olthoff, D.4
-
127
-
-
0038082056
-
The Ile2453Thr mutations in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes
-
DOI 10.1016/S0143-4160(03)00072-1
-
Wehner M, Rueffert H, Koenig F, Meinecke CD, Olthoff D: The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4′chloromcresol in human myotubes. Cell Calcium 34, 163-168 (2003). (Pubitemid 36798399)
-
(2003)
Cell Calcium
, vol.34
, Issue.2
, pp. 163-168
-
-
Wehner, M.1
Rueffert, H.2
Koenig, F.3
Meinecke, C.-D.4
Olthoff, D.5
-
128
-
-
0034326318
-
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 NB, Lerale J, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum. Mol. Genet. 9, 2599-2608 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2599-2608
-
-
Monnier, N.1
Romero, N.B.2
Lerale, J.3
-
129
-
-
38049134769
-
Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RYR1 malignant hyperthermia mutations
-
Yang T, Allen PD, Pessah IN, Lopez JR: Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RYR1 malignant hyperthermia mutations. J. Biol. Chem. 282, 37471-37478 (2007).
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 37471-37478
-
-
Yang, T.1
Allen, P.D.2
Pessah, I.N.3
Lopez, J.R.4
-
130
-
-
77957313438
-
-
European malignant hyperthermia group
-
European malignant hyperthermia group www.emhg.org
-
-
-
|