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N Monnier (2002)
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibilityAnesthesiology, 97
W Xie (2013)
Imaging atrial arrhythmic intracellular calcium in intact heartJ Mol Cell Cardiol, 64
E Zvaritch (2009)
Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsProc Natl Acad Sci USA, 106
K Paul-Pletzer (2002)
Identification of a Dantrolene-binding Sequence on the Skeletal Muscle Ryanodine Receptor*J Biol Chem, 277
Q Yuan (2014)
Functional Role of Calstabin2 in Age-related Cardiac AlterationsSci Rep, 4
M Fill (1990)
Abnormal ryanodine receptor channels in malignant hyperthermia.Biophys J, 57
BR Nelson (2013)
Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractilityProc Natl Acad Sci USA, 110
CW Ward (2003)
Defects in ryanodine receptor calcium release in skeletal muscle from post-myocardial infarct ratsFASEB J, 17
M Fill (1990)
Abnormal ryanodine receptor channels in malignant hyperthermiaBiophys J, 57
A Fabiato (1983)
Am J Physiol, 245
H Zhou (2007)
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.Brain, 130
AR Marks (1990)
Smooth muscle and brain inositol 1,4,5-trisphosphate receptors are structurally and functionally similar.J Biol Chem, 265
AP Timerman (1993)
The calcium release channel of sarcoplasmic reticulum is modulated by FK-506-binding protein. Dissociation and reconstitution of FKBP-12 to the calcium release channel of skeletal muscle sarcoplasmic reticulumJ Biol Chem, 268
MP Blaustein (1993)
Physiological effects of endogenous ouabain: control of intracellular Ca2+ stores and cell responsiveness.Am J Physiol, 264
T Jayaraman (2000)
Calcineurin Is Downstream of the Inositol 1,4,5-Trisphosphate Receptor in the Apoptotic and Cell Growth Pathways*J Biol Chem, 275
DX Bharucha-Goebel (2013)
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrumNeurology, 80
JG Tidball, SA Villalta (2009)
NO may prompt calcium leakage in dystrophic muscleNat Med, 15
E Zvaritch (2009)
Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsProc Natl Acad Sci USA, 106
H Zhou (2010)
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) geneNeuromusc Disord NMD, 20
AR Marks (1989)
Molecular cloning and characterization of the ryanodine receptor/junctional channel complex cDNA from skeletal muscle sarcoplasmic reticulum.Proc Natl Acad Sci USA, 86
K Amburgey (2013)
Genotype-phenotype correlations in recessive RYR1-related myopathiesOrphanet J Rare Dis, 8
G Santulli (2014)
Adrenal signaling in heart failure: something more than a distant ship’s smoke on the horizonHypertension, 63
BA Block (1988)
Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscleJ Cell Biol, 107
AB Brillantes (1994)
Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding proteinCell, 77
M Inui (1987)
Purification of the ryanodine receptor and identity with feet structures of junctional terminal cisternae of sarcoplasmic reticulum from fast skeletal muscle.J Biol Chem, 262
R Zetterstrom (1958)
Impaired Calcium‐Phosphate Homeostasis in Newborn Infants of Diabetic MothersActa Paediatr, 47
S Ringer (1883)
A further Contribution regarding the influence of the different Constituents of the Blood on the Contraction of the HeartJ Physiol, 4
BR Nelson (2013)
Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractilityProc Natl Acad Sci USA, 110
DJ Tester (2007)
A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors.Heart Rhythm, 4
L Dalla Libera (2005)
Skeletal muscle myofibrillar protein oxidation in heart failure and the protective effect of Carvedilol.J Mol Cell Cardiol, 38
EF Rogers (1948)
Plant insecticides; ryanodine, a new alkaloid from Ryania speciosa Vahl.J Am Chem Soc, 70
AM Bellinger (2008)
Remodeling of ryanodine receptor complex causes “leaky” channels: A molecular mechanism for decreased exercise capacityProc Natl Acad Sci USA, 105
H Rosenberg (2007)
Orphanet J Rare Dis, 2
G Meissner (1987)
Rapid calcium release from cardiac sarcoplasmic reticulum vesicles is dependent on Ca2+ and is modulated by Mg2+, adenine nucleotide, and calmodulin.J Biol Chem, 262
NR Brandt (1990)
Molecular interactions of the junctional foot protein and dihydropyridine receptor in skeletal muscle triadsJ Membr Biol, 113
J Shan (2010)
Phosphorylation of the ryanodine receptor mediates the cardiac fight or flight response in miceJ Clin Invest, 120
J Shan (2010)
Role of chronic ryanodine receptor phosphorylation in heart failure and β-adrenergic receptor blockade in mice.J Clin Invest, 120
KR Magee, GM Shy (1956)
A new congenital non-progressive myopathyBrain, 79
G Santulli (2015)
Mitochondrial calcium overload is a key determinant in heart failureProc Natl Acad Sci USA, 112
JT Lanner (2010)
Ryanodine receptors: structure, expression, molecular details, and function in calcium releaseCold Spring Harb Perspect Biol, 2
H Takekura (1995)
Abnormal junctions between surface membrane and sarcoplasmic reticulum in skeletal muscle with a mutation targeted to the ryanodine receptorProc Natl Acad Sci USA, 92
EF Farrell (2004)
Regulation of cardiac excitation–contraction coupling by sorcin, a novel modulator of ryanodine receptorsBiol Res, 37
C Franzini-Armstrong (1995)
Alternate disposition of tetrads in peripheral couplings of skeletal muscleJ Muscle Res Cell Motil, 16
T Suetomi (2011)
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant Ca(2)(+)release leading to catecholaminergic polymorphic ventricular tachycardiaCirculation, 124
H Zhou (2010)
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) geneNeuromusc Disord NMD, 20
JH Hwang (2012)
Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.Trends Mol Med, 18
AS Fairhurst, W Hasselbach (1970)
Calcium efflux from a heavy sarcotubular fraction. Effects of ryanodine, caffeine and magnesiumEur J Biochem, 13
A Klein (2012)
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathiesHum Mutat, 33
NR Brandt (1990)
Molecular interactions of the junctional foot protein and dihydropyridine receptor in skeletal muscle triadsJ Membr Biol, 113
S Chen, P Novick, S Ferro-Novick (2013)
ER structure and functionCurr Opin Cell Biol, 25
AR Marks (1990)
Smooth muscle and brain inositol 1,4,5-trisphosphate receptors are structurally and functionally similarJ Biol Chem, 265
AP Timerman (1993)
The calcium release channel of sarcoplasmic reticulum is modulated by FK-506-binding protein. Dissociation and reconstitution of FKBP-12 to the calcium release channel of skeletal muscle sarcoplasmic reticulum.J Biol Chem, 268
F Zhao (2001)
Dantrolene Inhibition of Ryanodine Receptor Ca2+Release ChannelsJ Biol Chem, 276
DX Brochet (2005)
Ca2+ blinks: rapid nanoscopic store calcium signaling.Proc Natl Acad Sci USA, 102
F Huang (2006)
Analysis of calstabin2 (FKBP12.6)-ryanodine receptor interactions: rescue of heart failure by calstabin2 in mice.Proc Natl Acad Sci USA, 103
SE Lehnart (2005)
Phosphodiesterase 4D deficiency in the ryanodine-receptor complex promotes heart failure and arrhythmiasCell, 123
DC Andersson (2012)
Leaky ryanodine receptors in β-sarcoglycan deficient mice: a potential common defect in muscular dystrophySkelet Muscle, 2
H Jungbluth (2007)
Orphanet J Rare Dis, 2
HG Lee (2001)
Interaction of HRC (histidine-rich Ca(2+)-binding protein) and triadin in the lumen of sarcoplasmic reticulumJ Biol Chem, 276
H Takekura (1995)
Abnormal junctions between surface membrane and sarcoplasmic reticulum in skeletal muscle with a mutation targeted to the ryanodine receptor.Proc Natl Acad Sci USA, 92
J Nakai (1996)
Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptorNature, 380
AM Bellinger (2008)
Stressed out: the skeletal muscle ryanodine receptor as a target of stress.J Clin Invest, 118
F Huang (2006)
Analysis of calstabin2 (FKBP12.6)-ryanodine receptor interactions: rescue of heart failure by calstabin2 in miceProc Natl Acad Sci USA, 103
G Santulli (2015)
Calcium release channel RyR2 regulates insulin release and glucose homeostasisJ Clin Invest, 125
H Takeshima (1994)
Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor geneNature, 369
K Amburgey (2013)
Genotype-phenotype correlations in recessive RYR1-related myopathiesOrphanet J Rare Dis, 8
AR Marks (2002)
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardiaJ Cell Physiol, 190
SO Marx (1998)
Coupled gating between individual skeletal muscle Ca2+ release channels (ryanodine receptors)Science, 281
KA Quane (1993)
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermiaNat Genet, 5
R Zalk (2015)
Structure of a mammalian ryanodine receptorNature, 517
AR Marks (1989)
Molecular cloning and characterization of the ryanodine receptor/junctional channel complex cDNA from skeletal muscle sarcoplasmic reticulumProc Natl Acad Sci USA, 86
AM Bellinger (2009)
Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscleNat Med, 15
PC Scacheri (2000)
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathyNeurology, 55
M Ohkura (1998)
Dual regulation of the skeletal muscle ryanodine receptor by triadin and calsequestrinBiochemistry, 37
G Santulli, AR Marks (2015)
Essential roles of intracellular calcium release channels in muscle, brain, metabolism, and agingCurr Mol Pharmacol, 8
G Fan (2015)
Gating machinery of InsP3R channels revealed by electron cryomicroscopyNature, 527
G Santulli (2015)
Mitochondrial calcium overload is a key determinant in heart failureProc Natl Acad Sci USA, 112
M Ohkura (1998)
Dual regulation of the skeletal muscle ryanodine receptor by triadin and calsequestrin.Biochemistry, 37
CC Tung (2010)
The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibuleNature, 468
LO Go (1995)
Differential regulation of two types of intracellular calcium release channels during end-stage heart failureJ Clin Invest, 95
A Kushnir (2010)
Role of CaMKIIδ phosphorylation of the cardiac ryanodine receptor in the force frequency relationship and heart failureProc Natl Acad Sci USA, 107
DR Laver (1995)
Cytoplasmic Ca2+ inhibits the ryanodine receptor from cardiac muscleJ Membr Biol, 147
SS Awad (1997)
Differential expression of ryanodine receptor RyR2 mRNA in the non-pregnant and pregnant human myometrium.Biochem J, 322
S Chen (2013)
ER structure and function.Curr Opin Cell Biol, 25
Z Yuchi, K Lau, F Petegem (2012)
Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domainStructure, 20
HG Lee (2001)
Interaction of HRC (Histidine-rich Ca2+-Binding Protein) and Triadin in the Lumen of Sarcoplasmic Reticulum*J Biol Chem, 276
MP Blaustein (1993)
Physiological effects of endogenous ouabain: control of intracellular Ca2+ stores and cell responsivenessAm J Physiol, 264
LS Tobacman (1996)
Thin filament-mediated regulation of cardiac contractionAnnu Rev Physiol, 58
SO Marx (2001)
Phosphorylation-dependent regulation of ryanodine receptors: a novel role for leucine/isoleucine zippersJ Cell Biol, 153
JG Tidball (2009)
NO may prompt calcium leakage in dystrophic muscleNat Med, 15
K Otsu (1990)
Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum.J Biol Chem, 265
AM Bellinger (2009)
Hypernitrosylated ryanodine receptor/calcium release channels are leaky in dystrophic muscleNat Med, 15
G Santulli, G Iaccarino (2016)
Adrenergic signaling in heart failure and cardiovascular agingMaturitas, 93
TE Nelson (1979)
Temperature perturbation studies of sarcoplasmic reticulum from malignant hyperthermia pig muscle.J Clin Invest, 64
G Santulli (2015)
Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.Curr Mol Pharmacol, 8
SO Marx, K Ondrias, AR Marks (1998)
Coupled gating between individual skeletal muscle Ca2+ release channels (ryanodine receptors)Science, 281
AR Marks (2002)
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardiaJ Cell Physiol, 190
JT Lanner (2010)
Ryanodine receptors: structure, expression, molecular details, and function in calcium release.Cold Spring Harb Perspect Biol, 2
A Ferreiro (2002)
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneAnn Neurol, 51
A Kushnir (2010)
Role of CaMKIIdelta phosphorylation of the cardiac ryanodine receptor in the force frequency relationship and heart failureProc Natl Acad Sci USA, 107
Q Yuan (2016)
Maintenance of normal blood pressure is dependent on IP3R1-mediated regulation of eNOSProc Natl Acad Sci USA, 113
JW Witherspoon, KG Meilleur (2016)
Review of RyR1 pathway and associated pathomechanismsActa Neuropathol Commun, 4
L Zhang (2011)
Functional SNP in the microRNA-367 binding site in the 3′UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcificationProc Natl Acad Sci USA, 108
J Nakai (1996)
Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptorNature, 380
J Fauconnier (2010)
Leaky RyR2 trigger ventricular arrhythmias in Duchenne muscular dystrophyProc Natl Acad Sci USA, 107
IB Bezprozvanny (1993)
Activation of the calcium release channel (ryanodine receptor) by heparin and other polyanions is calcium dependent.Mol Biol Cell, 4
AM Bellinger (2008)
Remodeling of ryanodine receptor complex causes “leaky” channels: a molecular mechanism for decreased exercise capacityProc Natl Acad Sci USA, 105
CW Ward (2003)
FASEB J, 17
IB Bezprozvanny (1993)
Activation of the calcium release channel (ryanodine receptor) by heparin and other polyanions is calcium dependentMol Biol Cell, 4
W Xie (2015)
Mitochondrial oxidative stress promotes atrial fibrillationSci Rep, 5
KA Quane (1993)
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermiaNat Genet, 5
G Santulli (2016)
Adrenergic signaling in heart failure and cardiovascular aging.Maturitas, 93
SO Marx (2001)
Phosphorylation-Dependent Regulation of Ryanodine ReceptorsJ Cell Biol, 153
H Tateishi (2009)
Defective domain–domain interactions within the ryanodine receptor as a critical cause of diastolic Ca2+ leak in failing heartsCardiovasc Res, 81
A Fabiato, F Fabiato (1975)
Contractions induced by a calcium-triggered release of calcium from the sarcoplasmic reticulum of single skinned cardiac cellsJ Physiol, 249
Q Yuan (2016)
Maintenance of normal blood pressure is dependent on IP3R1-mediated regulation of eNOSProc Natl Acad Sci USA, 113
DX Brochet (2005)
Ca2+ blinks: rapid nanoscopic store calcium signalingProc Natl Acad Sci USA, 102
W Xie (2013)
Imaging atrial arrhythmic intracellular calcium in intact heart.J Mol Cell Cardiol, 64
S Loseth (2013)
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) geneJ Neurol, 260
E Rios, G Brum (1987)
Involvement of dihydropyridine receptors in excitation–contraction coupling in skeletal muscleNature, 325
KR Magee (1956)
A new congenital non-progressive myopathy.Brain, 79
H Zhou (2007)
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesBrain, 130
H Jungbluth (2007)
Central core diseaseOrphanet J Rare Dis, 2
S Matecki (2016)
Leaky ryanodine receptors contribute to diaphragmatic weakness during mechanical ventilationProc Natl Acad Sci, 113
BE Flucher (1993)
Triad formation: organization and function of the sarcoplasmic reticulum calcium release channel and triadin in normal and dysgenic muscle in vitroJ Cell Biol, 123
SE Lehnart (2005)
Phosphodiesterase 4D Deficiency in the Ryanodine-Receptor Complex Promotes Heart Failure and ArrhythmiasCell, 123
Y Nakashima (1997)
Molecular cloning and characterization of a human brain ryanodine receptor 1FEBS Lett, 417
EF Farrell (2004)
Regulation of cardiac excitation-contraction coupling by sorcin, a novel modulator of ryanodine receptors.Biol Res, 37
L Zhang (1997)
Complex Formation between Junctin, Triadin, Calsequestrin, and the Ryanodine ReceptorJ Biol Chem, 272
A Umanskaya (2014)
Genetically enhancing mitochondrial antioxidant activity improves muscle function in agingProc Natl Acad Sci USA, 111
A des Georges (2016)
Structural basis for gating and activation of RyR1Cell, 167
JF Capacchione (2010)
Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms.Anesthesiology, 112
JR Mickelson (1988)
Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermiaJ Biol Chem, 263
L Zhang (1997)
Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membraneJ Biol Chem, 272
Y Zhang (1993)
A mutation in the human ryanodine receptor gene associated with central core diseaseNat Genet, 5
CC Tung (2010)
The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibuleNature, 468
Q Yuan (2014)
Functional role of calstabin2 in age-related cardiac alterationsSci Rep, 4
D Jiang (2004)
RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)Proc Natl Acad Sci USA, 101
C Franzini-Armstrong, JW Kish (1995)
Alternate disposition of tetrads in peripheral couplings of skeletal muscleJ Muscle Res Cell Motil, 16
AS Fairhurst (1970)
Calcium Efflux from a Heavy Sarcotubular FractionEur J Biochem, 13
Z Yan (2015)
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolutionNature, 517
AM Gordon, E Homsher, M Regnier (2000)
Regulation of contraction in striated musclePhysiol Rev, 80
Y Nakashima (1997)
Molecular cloning and characterization of a human brain ryanodine receptorFEBS Lett, 417
K Paul-Pletzer (2002)
Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptorJ Biol Chem, 277
L Kimlicka (2013)
Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interfaceNat Commun, 4
HB Xin (1995)
Affinity purification of the ryanodine receptor/calcium release channel from fast twitch skeletal muscle based on its tight association with FKBP12.Biochem Biophys Res Commun, 214
SO Marx (2000)
PKA Phosphorylation Dissociates FKBP12.6 from the Calcium Release Channel (Ryanodine Receptor) Defective Regulation in Failing HeartsCell, 101
H Tateishi (2009)
Defective domain-domain interactions within the ryanodine receptor as a critical cause of diastolic Ca2+ leak in failing hearts.Cardiovasc Res, 81
AB Brillantes (1994)
Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding proteinCell, 77
HB Xin (1995)
Affinity purification of the ryanodine receptor/calcium release channel from fast twitch skeletal muscle based on its tight association with FKBP12Biochem Biophys Res Commun, 214
T Maki (1996)
Regulation of calcium channel expression in neonatal myocytes by catecholamines.J Clin Invest, 97
CA Sewry (2002)
The spectrum of pathology in central core diseaseNeuromuscul Disord, 12
JR Mickelson (1988)
Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia.J Biol Chem, 263
Y Zhang (1993)
A mutation in the human ryanodine receptor gene associated with central core diseaseNat Genet, 5
A Fabiato (1975)
Contractions induced by a calcium‐triggered release of calcium from the sarcoplasmic reticulum of single skinned cardiac cells.J Physiol, 249
A Umanskaya (2014)
Genetically enhancing mitochondrial antioxidant activity improves muscle function in agingProc Natl Acad Sci USA, 111
T Jayaraman (1992)
FK506 binding protein associated with the calcium release channel (ryanodine receptor).J Biol Chem, 267
DJ Tester (2007)
A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptorsHeart Rhythm, 4
DC Andersson (2011)
Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging.Cell Metab, 14
SS Awad (1997)
Differential expression of ryanodine receptor RyR2 mRNA in the non-pregnant and pregnant human myometriumBiochem J, 322
W Feng (2002)
Homer Regulates Gain of Ryanodine Receptor Type 1 Channel Complex*J Biol Chem, 277
PJ Lynch (1999)
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core diseaseProc Natl Acad Sci USA, 96
R Zetterstrom, RG Arnhold (1958)
Impaired calcium-phosphate homeostasis in newborn infants of diabetic mothersActa Paediatr, 47
T Wagenknecht (1989)
Three-dimensional architecture of the calcium channel/foot structure of sarcoplasmic reticulumNature, 338
JH Hwang (2012)
Mapping domains and mutations on the skeletal muscle ryanodine receptor channelTrends Mol Med, 18
X Liu (2012)
Role of Leaky Neuronal Ryanodine Receptors in Stress- Induced Cognitive DysfunctionCell, 150
PJ Lynch (1999)
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.Proc Natl Acad Sci USA, 96
J Shan (2010)
Phosphorylation of the ryanodine receptor mediates the cardiac fight or flight response in mice.J Clin Invest, 120
J Tong (1997)
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
Z Yuchi (2012)
Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domain.Structure, 20
N Monnier (2000)
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptorHum Mol Genet, 9
DX Bharucha-Goebel (2013)
Severe congenital RYR1-associated myopathyNeurology, 80
JW Witherspoon (2016)
Review of RyR1 pathway and associated pathomechanismsActa Neuropathol Commun, 4
G Meissner, JS Henderson (1987)
Rapid calcium release from cardiac sarcoplasmic reticulum vesicles is dependent on Ca2+ and is modulated by Mg2+, adenine nucleotide, and calmodulinJ Biol Chem, 262
N Monnier (2002)
Presence of Two Different Genetic Traits in Malignant Hyperthermia Families: Implication for Genetic Analysis, Diagnosis, and Incidence of Malignant Hyperthermia SusceptibilityAnesthesiology, 97
S Matecki (2016)
Leaky ryanodine receptors contribute to diaphragmatic weakness during mechanical ventilationProc Natl Acad Sci, 113
H Rosenberg (2007)
Malignant hyperthermiaOrphanet J Rare Dis, 2
N Monnier (2000)
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
K Censier (1998)
Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptorsJ Clin Invest, 101
F Zhao (2001)
Dantrolene inhibition of ryanodine receptor Ca2+ release channels. Molecular mechanism and isoform selectivityJ Biol Chem, 276
L Dalla Libera (2005)
Skeletal muscle myofibrillar protein oxidation in heart failure and the protective effect of CarvedilolJ Mol Cell Cardiol, 38
JA Copello (1997)
Heterogeneity of Ca2+ gating of skeletal muscle and cardiac ryanodine receptors.Biophys J, 73
W Xie (2015)
Mitochondrial oxidative stress promotes atrial fibrillationSci Rep, 5
W Feng (2002)
Homer regulates gain of ryanodine receptor type 1 channel complexJ Biol Chem, 277
BA Block (1988)
Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscleJ Cell Biol, 107
K Otsu (1990)
Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulumJ Biol Chem, 265
D Rossi (2014)
Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulumBiochem J, 458
A Klein (2012)
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesHum Mutat, 33
L Kimlicka (2013)
Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interfaceNat Commun, 4
M Endo, M Tanaka, Y Ogawa (1970)
Calcium induced release of calcium from the sarcoplasmic reticulum of skinned skeletal muscle fibresNature, 228
V Cabra, T Murayama, M Samso (2016)
Ultrastructural analysis of self-associated RyR2sBiophys J, 110
M Endo (1970)
Calcium Induced Release of Calcium from the Sarcoplasmic Reticulum of Skinned Skeletal Muscle FibresNature, 228
AM Gordon (2000)
Regulation of contraction in striated muscle.Physiol Rev, 80
J Fauconnier (2010)
Leaky RyR2 trigger ventricular arrhythmias in Duchenne muscular dystrophyProc Natl Acad Sci USA, 107
BE Flucher (1993)
Triad formation: organization and function of the sarcoplasmic reticulum calcium release channel and triadin in normal and dysgenic muscle in vitroJ Cell Biol, 123
D Rossi (2014)
Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum.Biochem J, 458
J Tong (1997)
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 diseaseJ Biol Chem, 272
X Liu (2012)
Role of leaky neuronal ryanodine receptors in stress-induced cognitive dysfunctionCell, 150
S Loseth (2013)
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) geneJ Neurol, 260
G Fan (2015)
Gating machinery of InsP3R channels revealed by electron cryomicroscopyNature, 527
E Rios (1987)
Involvement of dihydropyridine receptors in excitation–contraction coupling in skeletal muscleNature, 325
CA Sewry (2002)
The spectrum of pathology in central core diseaseNeuromuscul Disord, 12
L Zhang (2011)
Functional SNP in the microRNA-367 binding site in the 3′UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcificationProc Natl Acad Sci USA, 108
T Jayaraman, AR Marks (2000)
Calcineurin is downstream of the inositol 1,4,5-trisphosphate receptor in the apoptotic and cell growth pathwaysJ Biol Chem, 275
A Ferreiro (2002)
A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneAnn Neurol, 51
JA Copello (1997)
Heterogeneity of Ca2+ gating of skeletal muscle and cardiac ryanodine receptorsBiophys J, 73
T Wagenknecht (1989)
Three-dimensional architecture of the calcium channel/foot structure of sarcoplasmic reticulumNature, 338
SO Marx (2000)
PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing heartsCell, 101
DC Andersson (2011)
Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in agingCell Metab, 14
R Zalk (2015)
Structure of a mammalian ryanodine receptorNature, 517
EF Rogers, FR Koniuszy (1948)
Plant insecticides; ryanodine, a new alkaloid from Ryania speciosa VahlJ Am Chem Soc, 70
G Santulli (2014)
Adrenal signaling in heart failure: something more than a distant ship's smoke on the horizon.Hypertension, 63
Z Yan (2015)
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolutionNature, 517
H Takeshima (1989)
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptorNature, 339
S Ringer (1883)
A further Contribution regarding the influence of the different constituents of the blood on the contraction of the heartJ Physiol, 4
AM Bellinger, M Mongillo, AR Marks (2008)
Stressed out: the skeletal muscle ryanodine receptor as a target of stressJ Clin Invest, 118
J Shan (2010)
Role of chronic ryanodine receptor phosphorylation in heart failure and beta-adrenergic receptor blockade in miceJ Clin Invest, 120
H Takeshima (1989)
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptorNature, 339
DC Andersson (2012)
Leaky ryanodine receptors in beta-sarcoglycan deficient mice: a potential common defect in muscular dystrophySkelet Muscle, 2
JF Capacchione (2010)
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Calcium (Ca2+) release from intracellular stores plays a key role in the regulation of skeletal muscle contraction. The type 1 ryanodine receptors (RyR1) is the major Ca2+ release channel on the sarcoplasmic reticulum (SR) of myocytes in skeletal muscle and is required for excitation–contraction (E–C) coupling. This article explores the role of RyR1 in skeletal muscle physiology and pathophysiology.
Journal of Muscle Research and Cell Motility – Springer Journals
Published: Jun 26, 2017
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