-
2
-
-
69549103737
-
Local calcium signals induced by hyper-osmotic stress in mammalian skeletal muscle cells
-
doi:10.1007/s10974-009-9179-8
-
Apostol, S., D. Ursu, F. Lehmann-Horn, and W. Melzer. 2009. Local calcium signals induced by hyper-osmotic stress in mammalian skeletal muscle cells. J. Muscle Res. Cell Motil. 30:97-109. doi:10.1007/s10974-009-9179-8
-
(2009)
J. Muscle Res. Cell Motil.
, vol.30
, pp. 97-109
-
-
Apostol, S.1
Ursu, D.2
Lehmann-Horn, F.3
Melzer., W.4
-
4
-
-
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., and R.T. Dirksen. 2001. Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J. Gen. Physiol. 118:277-290. doi:10.1085/jgp.118.3.277
-
(2001)
J. Gen. Physiol.
, vol.118
, pp. 277-290
-
-
Avila, G.1
Dirksen., R.T.2
-
5
-
-
0035957338
-
Excitation- contraction uncoupling by a human central core disease mutation in the ryanodine receptor
-
doi:10.1073/pnas.071048198
-
Avila, G., J.J. O'Brien, and R.T. Dirksen. 2001. Excitation- contraction uncoupling by a human central core disease mutation in the ryanodine receptor. Proc. Natl. Acad. Sci. USA. 98:4215-4220. doi:10.1073/pnas.071048198
-
(2001)
Proc. Natl. Acad. Sci. USA.
, vol.98
, pp. 4215-4220
-
-
Avila, G.1
O'brien, J.J.2
Dirksen., R.T.3
-
6
-
-
0037390156
-
The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease
-
doi:10.1085/jgp.200308791
-
Avila, G., K.M. O'Connell, and R.T. Dirksen. 2003. The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation- contraction uncoupling in central core disease. J. Gen. Physiol. 121:277-286. doi:10.1085/jgp.200308791
-
(2003)
J. Gen. Physiol.
, vol.121
, pp. 277-286
-
-
Avila, G.1
O'connell, K.M.2
Dirksen., R.T.3
-
7
-
-
0033616799
-
Luminal loop of the ryanodine receptor: A pore-forming segment?
-
doi:10.1073/pnas.96.7.3345
-
Balshaw, D., L. Gao, and G. Meissner. 1999. Luminal loop of the ryanodine receptor: a pore-forming segment? Proc. Natl. Acad. Sci. USA. 96:3345-3347. doi:10.1073/pnas.96.7.3345
-
(1999)
Proc. Natl. Acad. Sci. USA.
, vol.96
, pp. 3345-3347
-
-
Balshaw, D.1
Gao, L.2
Meissner., G.3
-
8
-
-
0023910817
-
Calcium currents in embryonic and neonatal mammalian skeletal muscle
-
doi:10.1085/jgp.91.6.781
-
Beam, K.G., and C.M. Knudson. 1988. Calcium currents in embryonic and neonatal mammalian skeletal muscle. J. Gen. Physiol. 91:781-798. doi:10.1085/jgp.91.6.781
-
(1988)
J. Gen. Physiol.
, vol.91
, pp. 781-798
-
-
Beam, K.G.1
Knudson., C.M.2
-
9
-
-
0024245148
-
Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle
-
doi:10.1083/jcb.107.6.2587
-
Block, B.A., T. Imagawa, K.P. Campbell, and C. Franzini-Armstrong. 1988. Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle. J. Cell Biol. 107:2587-2600. doi:10.1083/jcb.107.6.2587
-
(1988)
J. Cell Biol.
, vol.107
, pp. 2587-2600
-
-
Block, B.A.1
Imagawa, T.2
Campbell, K.P.3
Franzini-Armstrong, C.4
-
10
-
-
76049112119
-
Characterization and temporal development of cores in a mouse model of malignant hyperthermia
-
Boncompagni, S., A.E. Rossi, M. Micaroni, S.L. Hamilton, R.T. Dirksen, C. Franzini-Armstrong, and F. Protasi. 2009. Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc. Natl. Acad. Sci. USA. 106:21996-22001.
-
(2009)
Proc. Natl. Acad. Sci. USA.
, vol.106
, pp. 21996-22001
-
-
Boncompagni, S.1
Rossi, A.E.2
Micaroni, M.3
Hamilton, S.L.4
Dirksen, R.T.5
Franzini-Armstrong, C.6
Protasi., F.7
-
11
-
-
78249286202
-
The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging
-
doi:10.1111/j.1474-9726 .2010.00623.x
-
Boncompagni, S., R.E. Loy, R.T. Dirksen, and C. Franzini-Armstrong. 2010. The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging. Aging Cell. 9:958-970. doi:10.1111/j.1474-9726 .2010.00623.x
-
(2010)
Aging Cell.
, vol.9
, pp. 958-970
-
-
Boncompagni, S.1
Loy, R.E.2
Dirksen, R.T.3
Franzini-Armstrong, C.4
-
12
-
-
67649506191
-
Tests to assess motor phenotype in mice: A user's guide
-
doi:10 .1038/nrn2652
-
Brooks, S.P., and S.B. Dunnett. 2009. Tests to assess motor phenotype in mice: a user's guide. Nat. Rev. Neurosci. 10:519-529. doi:10 .1038/nrn2652
-
(2009)
Nat. Rev. Neurosci.
, vol.10
, pp. 519-529
-
-
Brooks, S.P.1
Dunnett, S.B.2
-
13
-
-
17844381619
-
Calcium transients in developing mouse skeletal muscle fibres
-
doi:10.1113/jphysiol.2004.081034
-
Capote, J., P. Bolaños, R.P. Schuhmeier, W. Melzer, and C. Caputo. 2005. Calcium transients in developing mouse skeletal muscle fibres. J. Physiol. 564:451-464. doi:10.1113/jphysiol.2004.081034
-
(2005)
J. Physiol.
, vol.564
, pp. 451-464
-
-
Capote, J.1
Bolaños, P.2
Schuhmeier, R.P.3
Melzer, W.4
Caputo., C.5
-
14
-
-
33644882215
-
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse
-
Chelu, M.G., S.A. Goonasekera, W.J. Durham, W. Tang, J.D. Lueck, J. Riehl, I.N. Pessah, P. Zhang, M.B. Bhattacharjee, R.T. Dirksen, and S.L. Hamilton. 2006. Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J. 20:329-330.
-
(2006)
FASEB J.
, vol.20
, pp. 329-330
-
-
Chelu, M.G.1
Goonasekera, S.A.2
Durham, W.J.3
Tang, W.4
Lueck, J.D.5
Riehl, J.6
Pessah, I.N.7
Zhang, P.8
Bhattacharjee, M.B.9
Dirksen, R.T.10
Hamilton., S.L.11
-
15
-
-
67649378959
-
Anesthetic- and heatinduced sudden death in calsequestrin-1-knockout mice
-
doi:10.1096/fj.08-121335
-
Dainese, M., M. Quarta, A.D. Lyfenko, C. Paolini, M. Canato, C. Reggiani, R.T. Dirksen, and F. Protasi. 2009. Anesthetic- and heatinduced sudden death in calsequestrin-1-knockout mice. FASEB J. 23:1710-1720. doi:10.1096/fj.08-121335
-
(2009)
FASEB J.
, vol.23
, pp. 1710-1720
-
-
Dainese, M.1
Quarta, M.2
Lyfenko, A.D.3
Paolini, C.4
Canato, M.5
Reggiani, C.6
Dirksen, R.T.7
Protasi., F.8
-
16
-
-
0036512386
-
Bi-directional coupling between dihydropyridine receptors and ryanodine receptors
-
doi:10.2741/dirksen
-
Dirksen, R.T. 2002. Bi-directional coupling between dihydropyridine receptors and ryanodine receptors. Front. Biosci. 7:d659-d670. doi:10.2741/dirksen
-
(2002)
Front. Biosci.
, vol.7
-
-
Dirksen, R.T.1
-
17
-
-
0036021090
-
Altered ryanodine receptor function in central core disease: Leaky or uncoupled Ca(2+) release channels?
-
doi:10 .1016/S1050-1738(02)00163-9
-
Dirksen, R.T., and G. Avila. 2002. Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? Trends Cardiovasc. Med. 12:189-197. doi:10 .1016/S1050-1738(02)00163-9
-
(2002)
Trends Cardiovasc. Med.
, vol.12
, pp. 189-197
-
-
Dirksen, R.T.1
Avila., G.2
-
18
-
-
16344388804
-
2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1
-
doi:10.1529/ biophysj.104.048447
-
2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. Biophys. J. 87:3193-3204. doi:10.1529/ biophysj.104.048447
-
(2004)
Biophys. J.
, vol.87
, pp. 3193-3204
-
-
Dirksen, R.T.1
Avila., G.2
-
20
-
-
4444248702
-
Role of the sequence surrounding predicted transmembrane helix M4 in membrane association and function of the Ca(2+) release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor isoform 1)
-
doi:10.1074/jbc.M406637200
-
Du, G.G., G. Avila, P. Sharma, V.K. Khanna, R.T. Dirksen, and D.H. MacLennan. 2004. Role of the sequence surrounding predicted transmembrane helix M4 in membrane association and function of the Ca(2+) release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor isoform 1). J. Biol. Chem. 279:37566-37574. doi:10.1074/jbc.M406637200
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 37566-37574
-
-
Du, G.G.1
Avila, G.2
Sharma, P.3
Khanna, V.K.4
Dirksen, R.T.5
MacLennan., D.H.6
-
21
-
-
6344278673
-
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermiasusceptible individuals and patients affected by central core disease
-
doi:10.1074/jbc.M403612200
-
Ducreux, S., F. Zorzato, C. Müller, C. Sewry, F. Muntoni, R. Quinlivan, G. Restagno, T. Girard, and S. Treves. 2004. Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermiasusceptible individuals and patients affected by central core disease. J. Biol. Chem. 279:43838-43846. doi:10.1074/jbc.M403612200
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 43838-43846
-
-
Ducreux, S.1
Zorzato, F.2
Müller, C.3
Sewry, C.4
Muntoni, F.5
Quinlivan, R.6
Restagno, G.7
Girard, T.8
Treves., S.9
-
22
-
-
41149142599
-
RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice
-
doi:10.1016/j.cell.2008.02.042
-
Durham, W.J., P. Aracena-Parks, C. Long, A.E. Rossi, S.A. Goonasekera, S. Boncompagni, D.L. Galvan, C.P. Gilman, M.R. Baker, N. Shirokova, et al. 2008. RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell. 133:53-65. doi:10.1016/j.cell.2008.02.042
-
(2008)
Cell.
, vol.133
, pp. 53-65
-
-
Durham, W.J.1
Aracena-Parks, P.2
Long, C.3
Rossi, A.E.4
Goonasekera, S.A.5
Boncompagni, S.6
Galvan, D.L.7
Gilman, C.P.8
Baker, M.R.9
Shirokova, N.10
-
23
-
-
0029060579
-
Alternate disposition of tetrads in peripheral couplings of skeletal muscle
-
doi:10.1007/BF00121140
-
Franzini-Armstrong, C., and J.W. Kish. 1995. Alternate disposition of tetrads in peripheral couplings of skeletal muscle. J. Muscle Res. Cell Motil. 16:319-324. doi:10.1007/BF00121140
-
(1995)
J. Muscle Res. Cell Motil.
, vol.16
, pp. 319-324
-
-
Franzini-Armstrong, C.1
Kish., J.W.2
-
24
-
-
0020578983
-
Junctional feet and particles in the triads of a fast-twitch muscle fibre
-
doi:10.1007/BF00712033
-
Franzini-Armstrong, C., and G. Nunzi. 1983. Junctional feet and particles in the triads of a fast-twitch muscle fibre. J. Muscle Res. Cell Motil. 4:233-252. doi:10.1007/BF00712033
-
(1983)
J. Muscle Res. Cell Motil.
, vol.4
, pp. 233-252
-
-
Franzini-Armstrong, C.1
Nunzi., G.2
-
25
-
-
0033898376
-
Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance
-
doi:10.1016/ S0006-3495(00)76339-9
-
Gao, L., D. Balshaw, L. Xu, A. Tripathy, C. Xin, and G. Meissner. 2000. Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance. Biophys. J. 79:828-840. doi:10.1016/ S0006-3495(00)76339-9
-
(2000)
Biophys. J.
, vol.79
, pp. 828-840
-
-
Gao, L.1
Balshaw, D.2
Xu, L.3
Tripathy, A.4
Xin, C.5
Meissner., G.6
-
26
-
-
0035196729
-
Calcium sparks in intact skeletal muscle fibers of the frog
-
doi:10.1085/jgp.118.6.653
-
Hollingworth, S., J. Peet, W.K. Chandler, and S.M. Baylor. 2001. Calcium sparks in intact skeletal muscle fibers of the frog. J. Gen. Physiol. 118:653-678. doi:10.1085/jgp.118.6.653
-
(2001)
J. Gen. Physiol.
, vol.118
, pp. 653-678
-
-
Hollingworth, S.1
Peet, J.2
Chandler, W.K.3
Baylor, S.M.4
-
27
-
-
0029035645
-
Anesthetic complications in muscle disorders
-
doi:10.1097/ 00000542-199505000-00001
-
Iaizzo, P.A., and F. Lehmann-Horn. 1995. Anesthetic complications in muscle disorders. Anesthesiology. 82:1093-1096. doi:10.1097/ 00000542-199505000-00001
-
(1995)
Anesthesiology.
, vol.82
, pp. 1093-1096
-
-
Iaizzo, P.A.1
Lehmann-Horn., F.2
-
28
-
-
51049116461
-
2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia
-
doi:10.1074/jbc.M801944200
-
2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia. J. Biol. Chem. 283:20813-20820. doi:10.1074/jbc.M801944200
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 20813-20820
-
-
Jiang, D.1
Chen, W.2
Xiao, J.3
Wang, R.4
Kong, H.5
Jones, P.P.6
Zhang, L.7
Fruen, B.8
Chen., S.R.9
-
29
-
-
33645743730
-
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
-
doi:10.1212/01.wnl.0000188870.37076.f2
-
Jungbluth, H., H. Zhou, L. Hartley, B. Halliger-Keller, S. Messina, C. Longman, M. Brockington, S.A. Robb, V. Straub, T. Voit, et al. 2005. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 65:1930-1935. doi:10.1212/01.wnl.0000188870.37076.f2
-
(2005)
Neurology.
, vol.65
, pp. 1930-1935
-
-
Jungbluth, H.1
Zhou, H.2
Hartley, L.3
Halliger-Keller, B.4
Messina, S.5
Longman, C.6
Brockington, M.7
Robb, S.A.8
Straub, V.9
Voit, T.10
-
30
-
-
34047270223
-
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
-
doi:10.1016/j.nmd.2007.01.016
-
Jungbluth, H., H. Zhou, C.A. Sewry, S. Robb, S. Treves, M. Bitoun, P. Guicheney, A. Buj-Bello, C. Bönnemann, and F. Muntoni. 2007. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul. Disord. 17:338-345. doi:10.1016/j.nmd.2007. 01.016
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 338-345
-
-
Jungbluth, H.1
Zhou, H.2
Sewry, C.A.3
Robb, S.4
Treves, S.5
Bitoun, M.6
Guicheney, P.7
Buj-Bello, A.8
Bönnemann, C.9
Muntoni., F.10
-
31
-
-
61449183565
-
Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling
-
doi:10.1016/j.ceca.2008.11.005
-
Kimura, T., J.D. Lueck, P.J. Harvey, S.M. Pace, N. Ikemoto, M.G. Casarotto, R.T. Dirksen, and A.F. Dulhunty. 2009. Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling. Cell Calcium. 45:264-274. doi:10.1016/j.ceca.2008.11.005
-
(2009)
Cell Calcium.
, vol.45
, pp. 264-274
-
-
Kimura, T.1
Lueck, J.D.2
Harvey, P.J.3
Pace, S.M.4
Ikemoto, N.5
Casarotto, M.G.6
Dirksen, R.T.7
Dulhunty., A.F.8
-
32
-
-
0033616718
-
2+ release channel function and severe central core disease
-
doi:10.1073/pnas.96.7.4164
-
2+ release channel function and severe central core disease. Proc. Natl. Acad. Sci. USA. 96:4164-4169. doi:10.1073/pnas.96.7.4164
-
(1999)
Proc. Natl. Acad. Sci. USA.
, vol.96
, pp. 4164-4169
-
-
Lynch, P.J.1
Tong, J.2
Lehane, M.3
Mallet, A.4
Giblin, L.5
Heffron, J.J.6
Vaughan, P.7
Zafra, G.8
MacLennan, D.H.9
McCarthy., T.V.10
-
33
-
-
72449180513
-
Comprehensive behavioral phenotyping of ryanodine receptor type 3 (RyR3) knockout mice: Decreased social contact duration in two social interaction tests
-
Matsuo, N., K. Tanda, K. Nakanishi, N. Yamasaki, K. Toyama, K. Takao, H. Takeshima, and T. Miyakawa. 2009. Comprehensive behavioral phenotyping of ryanodine receptor type 3 (RyR3) knockout mice: decreased social contact duration in two social interaction tests. Front Behav Neurosci. 3:3.
-
(2009)
Front Behav Neurosci.
, vol.3
, pp. 3
-
-
Matsuo, N.1
Tanda, K.2
Nakanishi, K.3
Yamasaki, N.4
Toyama, K.5
Takao, K.6
Takeshima, H.7
Miyakawa., T.8
-
34
-
-
0022555602
-
The removal of myoplasmic free calcium following calcium release in frog skeletal muscle
-
Melzer, W., E. Ríos, and M.F. Schneider. 1986. The removal of myoplasmic free calcium following calcium release in frog skeletal muscle. J. Physiol. 372:261-292.
-
(1986)
J. Physiol.
, vol.372
, pp. 261-292
-
-
Melzer, W.1
Ríos, E.2
Schneider., M.F.3
-
36
-
-
0030922550
-
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle
-
doi:10.1086/515454
-
Monnier, N., V. Procaccio, P. Stieglitz, and J. Lunardi. 1997. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 60:1316-1325. doi:10.1086/515454
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1316-1325
-
-
Monnier, N.1
Procaccio, V.2
Stieglitz, P.3
Lunardi., J.4
-
37
-
-
0038101427
-
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
-
doi:10.1093/hmg/ddg121
-
Monnier, N., A. Ferreiro, I. Marty, A. Labarre-Vila, P. Mezin, and J. Lunardi. 2003. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum. Mol. Genet. 12:1171-1178. doi:10.1093/hmg/ddg121
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1171-1178
-
-
Monnier, N.1
Ferreiro, A.2
Marty, I.3
Labarre-Vila, A.4
Mezin, P.5
Lunardi., J.6
-
38
-
-
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., T. Oba, H. Hara, K. Wakebe, N. Ikemoto, and Y. Ogawa. 2007. Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia. Biochem. J. 402:349-357. doi:10.1042/BJ20061040
-
(2007)
Biochem. J.
, vol.402
, pp. 349-357
-
-
Murayama, T.1
Oba, T.2
Hara, H.3
Wakebe, K.4
Ikemoto, N.5
Ogawa., Y.6
-
39
-
-
0029983398
-
Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor
-
doi:10.1038/380072a0
-
Nakai, J., R.T. Dirksen, H.T. Nguyen, I.N. Pessah, K.G. Beam, and P.D. Allen. 1996. Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor. Nature. 380:72-75. doi:10.1038/380072a0
-
(1996)
Nature.
, vol.380
, 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
-
40
-
-
0034752383
-
Behavioral abnormalities of Zic1 and Zic2 mutant mice: Implications as models for human neurological disorders
-
doi: 10.1023/A:1012235510600
-
Ogura, H., J. Aruga, and K. Mikoshiba. 2001. Behavioral abnormalities of Zic1 and Zic2 mutant mice: implications as models for human neurological disorders. Behav. Genet. 31:317-324. doi: 10.1023/A:1012235510600
-
(2001)
Behav. Genet.
, vol.31
, pp. 317-324
-
-
Ogura, H.1
Aruga, J.2
Mikoshiba., K.3
-
41
-
-
0030912648
-
Coordinated incorporation of skeletal muscle dihydropyridine receptors and ryanodine receptors in peripheral couplings of BC3H1 cells
-
doi:10.1083/jcb.137.4.859
-
Protasi, F., C. Franzini-Armstrong, and B.E. Flucher. 1997. Coordinated incorporation of skeletal muscle dihydropyridine receptors and ryanodine receptors in peripheral couplings of BC3H1 cells. J. Cell Biol. 137:859-870. doi:10.1083/jcb.137.4.859
-
(1997)
J. Cell Biol.
, vol.137
, pp. 859-870
-
-
Protasi, F.1
Franzini-Armstrong, C.2
Flucher., B.E.3
-
42
-
-
33748997392
-
Mutations in RYR1 in malignant hyperthermia and central core disease
-
doi:10.1002/humu.20356
-
Robinson, R., D. Carpenter, M.A. Shaw, J. Halsall, and P. Hopkins. 2006. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum. Mutat. 27:977-989. doi:10.1002/humu.20356
-
(2006)
Hum. Mutat.
, vol.27
, pp. 977-989
-
-
Robinson, R.1
Carpenter, D.2
Shaw, M.A.3
Halsall, J.4
Hopkins., P.5
-
43
-
-
79959305039
-
Malignant hyperthermia susceptibility
-
R.A. Pagon, T.C. Bird, C.R. Dolan, and K. Stephens, editors. University of Washington, Seattle. (updated Jan.
-
Rosenberg, H., N. Sambuughin, and R.T. Dirksen. 2010. Malignant hyperthermia susceptibility. GeneReviews. R.A. Pagon, T.C. Bird, C.R. Dolan, and K. Stephens, editors. University of Washington, Seattle. (updated Jan. 19, 2010).
-
(2010)
GeneReviews
, vol.19
, pp. 2010
-
-
Rosenberg, H.1
Sambuughin, N.2
Dirksen, R.T.3
-
44
-
-
0347093222
-
2+ fluxes in skeletal myotubes determined using a removal model analysis
-
doi:10.1085/jgp.200308908
-
2+ fluxes in skeletal myotubes determined using a removal model analysis. J. Gen. Physiol. 123:33-51. doi:10.1085/jgp.200308908
-
(2004)
J. Gen. Physiol.
, vol.123
, pp. 33-51
-
-
Schuhmeier, R.P.1
Melzer., W.2
-
45
-
-
2942613693
-
RYR1 mutations in UK central core disease patients: More than just the C-terminal transmembrane region of the RYR1 gene
-
doi:10.1136/jmg.2003.014274
-
Shepherd, S., F. Ellis, J. Halsall, P. Hopkins, and R. Robinson. 2004. RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J. Med. Genet. 41:e33. doi:10.1136/jmg.2003.014274
-
(2004)
J. Med. Genet.
, vol.41
-
-
Shepherd, S.1
Ellis, F.2
Halsall, J.3
Hopkins, P.4
Robinson., R.5
-
46
-
-
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
-
doi:10.1093/hmg/10.25.2879
-
Tilgen, N., F. Zorzato, B. Halliger-Keller, F. Muntoni, C. Sewry, L.M. Palmucci, C. Schneider, E. Hauser, F. Lehmann-Horn, C.R. Müller, and S. Treves. 2001. 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. doi:10.1093/hmg/10.25.2879
-
(2001)
Hum. Mol. Genet.
, vol.10
, 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
Müller, C.R.10
Treves., S.11
-
48
-
-
44649184084
-
Congenital muscle disorders with cores: The ryanodine receptor calcium channel paradigm
-
doi:10.1016/j.coph.2008.01.005
-
Treves, S., H. Jungbluth, F. Muntoni, and F. Zorzato. 2008. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr. Opin. Pharmacol. 8:319-326. doi:10.1016/j.coph.2008.01.005
-
(2008)
Curr. Opin. Pharmacol.
, vol.8
, pp. 319-326
-
-
Treves, S.1
Jungbluth, H.2
Muntoni, F.3
Zorzato., F.4
-
50
-
-
12744279366
-
2+ release and entry flux in isolated adult muscle fibres of the mouse
-
doi:10.1113/jphysiol.2004.073882
-
2+ release and entry flux in isolated adult muscle fibres of the mouse. J. Physiol. 562:347-365. doi:10.1113/jphysiol.2004.073882
-
(2005)
J. Physiol.
, vol.562
, pp. 347-365
-
-
Ursu, D.1
Schuhmeier, R.P.2
Melzer., W.3
-
51
-
-
21044446378
-
Uncontrolled calcium sparks act as a dystrophic signal for mammalian skeletal muscle
-
doi:10.1038/ncb1254
-
Wang, X., N. Weisleder, C. Collet, J. Zhou, Y. Chu, Y. Hirata, X. Zhao, Z. Pan, M. Brotto, H. Cheng, and J. Ma. 2005. Uncontrolled calcium sparks act as a dystrophic signal for mammalian skeletal muscle. Nat. Cell Biol. 7:525-530. doi:10.1038/ncb1254
-
(2005)
Nat. Cell Biol.
, vol.7
, pp. 525-530
-
-
Wang, X.1
Weisleder, N.2
Collet, C.3
Zhou, J.4
Chu, Y.5
Hirata, Y.6
Zhao, X.7
Pan, Z.8
Brotto, M.9
Cheng, H.10
Ma., J.11
-
52
-
-
0034981326
-
2+-release channel tunnel: Structures and mechanisms involved in ion translocation in ryanodine receptor channels
-
doi:10.1017/S0033583501003675
-
2+-release channel tunnel: structures and mechanisms involved in ion translocation in ryanodine receptor channels. Q. Rev. Biophys. 34:61-104. doi:10.1017/S0033583501003675
-
(2001)
Q. Rev. Biophys.
, vol.34
, pp. 61-104
-
-
Williams, A.J.1
West, D.J.2
Sitsapesan., R.3
-
53
-
-
0032747264
-
2+ release channels (ryanodine receptors) by multiple mechanisms
-
doi:10.1074/jbc.274.46.32680
-
2+ release channels (ryanodine receptors) by multiple mechanisms. J. Biol. Chem. 274:32680-32691. doi:10.1074/jbc.274.46.32680
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 32680-32691
-
-
Xu, L.1
Tripathy, A.2
Pasek, D.A.3
Meissner., G.4
-
54
-
-
44449105177
-
Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies
-
doi:10.1074/jbc.M707353200
-
Xu, L., Y. Wang, N. Yamaguchi, D.A. Pasek, and G. Meissner. 2008. Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies. J. Biol. Chem. 283:6321-6329. doi:10.1074/jbc.M707353200
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 6321-6329
-
-
Xu, L.1
Wang, Y.2
Yamaguchi, N.3
Pasek, D.A.4
Meissner., G.5
-
55
-
-
33751307170
-
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse
-
doi:10.1097/ 00000542-200612000-00016
-
Yang, T., J. Riehl, E. Esteve, K.I. Matthaei, S. Goth, P.D. Allen, I.N. Pessah, and J.R. Lopez. 2006. Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology. 105:1164-1175. doi:10.1097/ 00000542-200612000-00016
-
(2006)
Anesthesiology.
, vol.105
, 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
-
56
-
-
0033543667
-
Molecular identification of the ryanodine receptor poreforming segment
-
doi:10.1074/ jbc.274.37.25971
-
Zhao, M., P. Li, X. Li, L. Zhang, R.J. Winkfein, and S.R. Chen. 1999. Molecular identification of the ryanodine receptor poreforming segment. J. Biol. Chem. 274:25971-25974. doi:10.1074/ jbc.274.37.25971
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 25971-25974
-
-
Zhao, M.1
Li, P.2
Li, X.3
Zhang, L.4
Winkfein, R.J.5
Chen., S.R.6
-
57
-
-
33748752700
-
Characterization of recessive RYR1 mutations in core myopathies
-
doi:10 .1093/hmg/ddl221
-
Zhou, H., N. Yamaguchi, L. Xu, Y. Wang, C. Sewry, H. Jungbluth, F. Zorzato, E. Bertini, F. Muntoni, G. Meissner, and S. Treves. 2006. Characterization of recessive RYR1 mutations in core myopathies. Hum. Mol. Genet. 15:2791-2803. doi:10 .1093/hmg/ddl221
-
(2006)
Hum. Mol. Genet.
, vol.15
, 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
-
58
-
-
36749097954
-
2+ release channel function and delays development in homozygous offspring of a mutant mouse line
-
doi:10.1073/pnas.0709312104
-
2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc. Natl. Acad. Sci. USA. 104:18537-18542. doi:10.1073/pnas.0709312104
-
(2007)
Proc. Natl. Acad. Sci. USA.
, vol.104
, pp. 18537-18542
-
-
Zvaritch, E.1
Depreux, F.2
Kraeva, N.3
Loy, R.E.4
Goonasekera, S.A.5
Boncompagni, S.6
Boncompagi, S.7
Kraev, A.8
Gramolini, A.O.9
Dirksen, R.T.10
-
59
-
-
76049085876
-
2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
-
2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. Proc. Natl. Acad. Sci. USA. 106:21813-21818.
-
(2009)
Proc. Natl. Acad. Sci. USA.
, vol.106
, pp. 21813-21818
-
-
Zvaritch, E.1
Kraeva, N.2
Bombardier, E.3
McCloy, R.A.4
Depreux, F.5
Holmyard, D.6
Kraev, A.7
Seidman, C.E.8
Seidman, J.G.9
Tupling, A.R.10
MacLennan., D.H.11
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