Skip to main content
SpringerLink
Log in

Ryanodine Receptor 1 and Associated Pathologies

  • Chapter
  • First Online:
Pathologies of Calcium Channels

  • 1453 Accesses

Abstract

In skeletal muscle a rise in the cytosolic calcium concentration is the first trigger able to initiate the contraction of the sarcomere. Intracellular calcium levels are tightly controlled by channels and pumps, and it is not surprising that many inherited skeletal muscle disorders arise from mutations altering the players regulating calcium ions concentration (Betzenhauser and Marks 2010). In this chapter, we will focus on the pathologies linked to the sarcoplasmic reticulum calcium channel-RyR1 mutations.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Andersson DC, Betzenhauser MJ, Reiken S, Meli AC, Umanskaya A, Xie W, Shiomi T, Zalk R, Lacampagne A, Marks AR (2011) Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging. Cell Metab 14:196–207

    Article  PubMed  CAS  Google Scholar 

  • Aracena P, Tang W, Hamilton SL, Hidalgo C (2005) Effects of S-glutathionylation and S-nitrosylation on calmodulin binding to triads and FKBP12 binding to type 1 calcium release channels. Antioxid Redox Signal 7:870–881

    Article  PubMed  CAS  Google Scholar 

  • Aracena-Parks P, Goonasekera SA, Gilman CP, Dirksen RT, Hidalgo C, Hamilton SL (2006) Identification of cysteines involved in S-nitrosylation, S-glutathionylation, and oxidation to disulfides in ryanodine receptor type 1. J Biol Chem 281:40354–40368

    Article  PubMed  CAS  Google Scholar 

  • Avila G, O'Brien JJ, Dirksen RT (2001) Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor. Proc Natl Acad Sci USA 98:4215–4220

    Google Scholar 

  • Bellinger AM, Reiken S, Carlson C, Mongillo M, Liu X, Rothman L, Matecki S, Lacampagne A, Marks AR (2009) Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat Med 15:325–330

    Article  PubMed  CAS  Google Scholar 

  • Betzenhauser MJ, Marks AR (2010) Ryanodine receptor channelopathies. Pflugers Arch 460:467–480

    Article  PubMed  CAS  Google Scholar 

  • Bracci L, Vukcevic M, Spagnoli G, Ducreux S, Zorzato F, Treves S (2007) Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cells. J Cell Sci 120:2232–2240

    Article  PubMed  CAS  Google Scholar 

  • Brillantes AB, Ondrias K, Scott A, Kobrinsky E, Ondriasová E, Moschella MC, Jayaraman T, Landers M, Ehrlich BE, Marks AR (1994) Stabilization of calcium release channel (ryanodine receptor) function by FK506-bindingprotein. Cell 77:513–523

    Article  PubMed  CAS  Google Scholar 

  • Capacchione JF, Muldoon SM (2009) The relationship between exertional heat illness, exertional rhabdomyolysis, and malignant hyperthermia. Anesth Analg 109:1065–1069

    Article  PubMed  Google Scholar 

  • Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN (2010) Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 31:E1544–E1550

    Article  PubMed  CAS  Google Scholar 

  • De Crescenzo V, Fogarty KE, Lefkowitz JJ, Bellve KD, Zvaritch E, MacLennan DH, Walsh JV Jr (2012) Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype. Proc Natl Acad Sci USA 109:610–615

    Article  PubMed  Google Scholar 

  • Dirksen RT, Avila G (2002) Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? Trends Cardiovasc Med 12:189–197

    Article  PubMed  CAS  Google Scholar 

  • Dirksen RT, Avila G (2004) Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. Biophys J 87:3193–3204

    Article  PubMed  CAS  Google Scholar 

  • Du GG, Sandhu B, Khanna VK, Guo XH, MacLennan DH (2002) Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1). Proc Natl Acad Sci USA 9926:16725–16730

    Article  Google Scholar 

  • Dubowitz V, Sewry C (2007) Mucle biopsy, a pratical approach. Saunders Elsevier, St.Louis, pp 407–443

    Google Scholar 

  • Durham WJ, Aracena-Parks P, Long C, Rossi AE, Goonasekera SA, Boncompagni S, Galvan DL, Gilman CP, Baker MR, Shirokova N, Protasi F, Dirksen R, Hamilton SL (2008) RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell 133:53–65

    Article  PubMed  CAS  Google Scholar 

  • Eu JP, Sun J, Xu L, Stamler JS, Meissner G (2000) The skeletal muscle calcium release channel: coupled O2 sensor and NO signaling functions. Cell 102:499–509

    Article  PubMed  CAS  Google Scholar 

  • European Malignant Hyperpyrexia Group (1984) Br J Anaesth 56:1267–1269

    Google Scholar 

  • Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M (2000) Multi-minicore disease–searching for boundaries: phenotype analysis of 38 cases. Ann Neurol 48:745–757

    Article  PubMed  CAS  Google Scholar 

  • Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P (2002a) 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 gene. Ann Neurol 51:750–759

    Article  PubMed  CAS  Google Scholar 

  • Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P (2002b) Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 71:739–749

    Article  PubMed  Google Scholar 

  • Fill M, Copello JA (2002) Ryanodine receptor calcium release channels. Physiol Rev 82:893–922

    PubMed  CAS  Google Scholar 

  • Franck JP, Morrissette J, Keen JE, Londraville RL, Beamsley M, Block BA (1998) Cloning and characterization of fiber type-specific ryanodine receptor isoforms in skeletal muscles of fish. Am J Physiol 275:C401–C415

    PubMed  CAS  Google Scholar 

  • Franzini-Armstrong C, Nunzi G (1983) Junctional feet and particles in the triads of a fast-twitch muscle fibre. J Muscle Res Cell Motil 4:233–252

    Article  PubMed  CAS  Google Scholar 

  • Ghassemi F, Vukcevic M, Xu L, Zhou H, Meissner G, Muntoni F, Jungbluth H, Zorzato F, Treves S (2009) A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium 45:192–197

    Article  PubMed  CAS  Google Scholar 

  • Giannini G, Conti A, Mammarella S, Scrobogna M, Sorrentino V (1995) The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. J Cell Biol 128:893–904

    Article  PubMed  CAS  Google Scholar 

  • Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH (1991) A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 11:751–755

    Article  PubMed  CAS  Google Scholar 

  • Greenfield JG, Cornmant T, Shy GM (1958) The prognostic value of the muscle biopsy in the floppy infant. Brain 81:461–484

    Article  PubMed  CAS  Google Scholar 

  • Haan EA, Freemantle CJ, McCure JA, Friend KL, Mulley JC (1990) Assignment of the gene for central core disease to chromosome 19. Hum Genet 86:187–190

    Article  PubMed  CAS  Google Scholar 

  • Hasan G, Rosbash M (1992) Drosophila homologs of two mammalian intracellular Ca(2+)-release channels: identification and expression patterns of the inositol 1,4,5-triphosphate and the ryanodine receptor genes. Development 116:967–975

    PubMed  CAS  Google Scholar 

  • Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacène E, Beuvin M, Viou M, Manéré L, Claeys KG, Fardeau M, Lunardi J, Voit T, Romero NB (2011) De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins. Eur J Med Genet 54:29–33

    Article  PubMed  Google Scholar 

  • Hidalgo C, Donoso P, Carrasco MA (2005) The ryanodine receptors Ca2+ release channels: cellular redox sensors? IUBMB Life 57:315–322

    Google Scholar 

  • Hirata H, Watanabe T, Hatakeyama J, Sprague SM, Saint-Amant L, Nagashima A, Cui WW, Zhou W, Kuwada JY (2007) Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease. Development 134:2771–2781

    Article  PubMed  CAS  Google Scholar 

  • Hopkins PM (2007) Is there a link between malignant hyperthermia and exertional heat illness? Br J Sports Med 41:283–284, discussion 284

    Google Scholar 

  • Ibarra MCA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I (2006) Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology 104:1146–1154

    Article  Google Scholar 

  • Inui M, Saito A, Fleischer S (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 262:1740–1747

    PubMed  CAS  Google Scholar 

  • Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F (2004) Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 14:785–790

    Article  PubMed  Google Scholar 

  • Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F (2012) Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 33:981–988

    Article  PubMed  CAS  Google Scholar 

  • Lanner JT, Georgiou DK, Joshi AD, Hamilton SL (2010) Ryanodine receptors: structure, expression, molecular details, and function in calcium release. Cold Spring Harb Perspect Biol 2:a003996

    Article  PubMed  CAS  Google Scholar 

  • Loy RE, Orynbayev M, Xu L, Andronache Z, Apostol S, Zvaritch E, MacLennan DH, Meissner G, Melzer W, Dirksen RT (2011) Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum. J Gen Physiol 137:43–57

    Article  PubMed  CAS  Google Scholar 

  • Lynch PJ, Tong J, Lehane M, Mallet A, Giblin L, Heffron JJ, Vaughan P, Zafra G, MacLennan DH, McCarthy TV (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 96:4164–4169

    Article  PubMed  CAS  Google Scholar 

  • MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG (1990) Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 343:559–561

    Article  PubMed  CAS  Google Scholar 

  • MacLennan DH, Zvaritch E (2011) Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum. Biochim Biophys Acta 1813:948–964

    Article  PubMed  CAS  Google Scholar 

  • Magee KR, Shy GM (1956) A new congenital non-progressive myopathy. Brain 79:610-621

    Google Scholar 

  • Maryon EB, Coronado R, Anderson P (1996) Unc-68 encodes a ryanodine receptor involved in regulating C. elegans body-wall muscle contraction. J Cell Biol 134:885–893

    Article  PubMed  CAS  Google Scholar 

  • McCarthy TV, Healy JM, Heffron JJ, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, Johnson K (1990) Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 343:562–564

    Article  PubMed  CAS  Google Scholar 

  • Meissner G (1994) Ryanodine receptor/Ca2+ release channels and their regulation by endogenous effectors. Annu Rev Physiol 56:485–508

    Article  PubMed  CAS  Google Scholar 

  • Monnier N, Procaccio V, Stieglitz P, Lunardi J (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

    Article  PubMed  CAS  Google Scholar 

  • Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J (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 9:2599–2608

    Article  PubMed  CAS  Google Scholar 

  • Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J (2001) Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet 10:2581–2592

    Article  PubMed  CAS  Google Scholar 

  • Monnier N, Krivosic-Horber R, Payen JF, Kozak-Ribbens G, Nivoche Y, Adnet P, Reyford H, Lunardi J (2002) 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

    Article  PubMed  CAS  Google Scholar 

  • Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J (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

    Article  PubMed  CAS  Google Scholar 

  • Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J (2005) Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat 26:413–425

    Article  PubMed  CAS  Google Scholar 

  • Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J (2008) Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat 29:670–678

    Article  PubMed  CAS  Google Scholar 

  • Pirone A, Schredelseker J, Tuluc P, Gravino E, Fortunato G, Flucher BE, Carsana A, Salvatore F, Grabner M (2010) Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit. Am J Physiol Cell Physiol 299:C1345–C1354

    Article  PubMed  CAS  Google Scholar 

  • Quijano-Roy S, Carlier RY, Fischer D (2011) Muscle imaging in congenital myopathies. Semin Pediatr Neurol 18:221–229

    Article  PubMed  Google Scholar 

  • Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P (2006) Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 27:977–989

    Article  PubMed  CAS  Google Scholar 

  • Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M (2003) Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain 126:2341–2349

    Article  PubMed  Google Scholar 

  • Romero NB, Herasse M, Monnier N, Leroy JP, Fischer D, Ferreiro A, Viollet L, Eymard B, Laforêt P, Monges S, Lubieniecki F, Taratuto AL, Guicheney P, Lunardi J, Fardeau M (2005) Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. Acta Myol 24:70–73

    PubMed  CAS  Google Scholar 

  • Rosenberg H, Davis M, James D, Pollock N, Stowell K (2007) Malignant hyperthermia. Orphanet J Rare Dis 2:21

    Article  PubMed  Google Scholar 

  • Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, Nelson TE, Goldfarb LG (2005) Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology 102:515–521

    Article  PubMed  CAS  Google Scholar 

  • Samsó M, Feng W, Pessah IN, Allen PD (2009) Coordinated movement of cytoplasmic and transmembrane domains of RyR1 upon gating. PLoS Biol 7:e85

    Article  PubMed  Google Scholar 

  • Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH (2000) A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 55:1689–1696

    Article  PubMed  CAS  Google Scholar 

  • Serysheva II, Ludtke SJ, Baker ML, Cong Y, Topf M, Eramian D, Sali A, Hamilton SL, Chiu W (2008) Subnanometer-resolution electron cryomicroscopy-based domain models for the cytoplasmic region of skeletal muscle RyR channel. Proc Natl Acad Sci U S A 105:9610–9615

    Article  PubMed  CAS  Google Scholar 

  • Shy GM, Magee KR (1956) A new congenital non-progressive myopathy. Brain 79:610–621

    Article  PubMed  CAS  Google Scholar 

  • Stewart SL, Hogan K, Rosenberg H, Fletcher JE (2001) Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin Genet 59:178–184

    Article  PubMed  CAS  Google Scholar 

  • Takeshima H, Iino M, Takekura H, Nishi M, Kuno J, Minowa O, Takano H, Noda T (1994) Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene. Nature 369:556–559

    Article  PubMed  CAS  Google Scholar 

  • Tobin JR, Jason DR, Challa VR, Nelson TE, Sambuughin N (2001) Malignant hyperthermia and apparent heat stroke. JAMA 286:168–169

    Article  PubMed  CAS  Google Scholar 

  • Tong J, Oyamada H, Demaurex N, Grinstein S, McCarthy TV, MacLennan DH (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 272:26332–26339

    Article  PubMed  CAS  Google Scholar 

  • Tong J, McCarthy TV, MacLennan DH (1999) 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

    Article  PubMed  CAS  Google Scholar 

  • Toppin PJ, Chandy TT, Ghanekar A, Kraeva N, Beattie WS, Riazi S (2010) A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene. Can J Anaesth 57:689-693

    Article  PubMed  Google Scholar 

  • Tung CC, Lobo PA, Kimlicka L, Van Petegem F (2010) The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule. Nature 468:585-588

    Article  PubMed  CAS  Google Scholar 

  • Uemura Y, Liu TY, Narita Y, Suzuki M, Ohshima S, Mizukami S, Ichihara Y, Kikuchi H, Matsushita S (2007) Identification of functional type 1 ryanodine receptors in human dendritic cells. Biochem Biophys Res Commun 362:510-515

    Article  PubMed  CAS  Google Scholar 

  • Urwyler A, Deufel T, McCarthy T, West S (2001) European Malignant Hyperthermia Group. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 86:283-287

    Article  PubMed  CAS  Google Scholar 

  • Wappler F, Fiege M, Steinfath M, Agarwal K, Scholz J, Singh S, Matschke J, Schulte Am Esch J (2001) Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis. Anesthesiology 94:95-100

    Article  PubMed  CAS  Google Scholar 

  • Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H (2010) RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 68:717-726

    Article  PubMed  CAS  Google Scholar 

  • Yuchi Z, Lau K, Van Petegem F (2012) Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domain. Structure 20:1201-1211

    Article  PubMed  CAS  Google Scholar 

  • Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S (2006) Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet 15:2791–2803

    Article  PubMed  CAS  Google Scholar 

  • Zissimopoulos S, Docrat N, Lai FA (2007) Redox sensitivity of theryanodine receptor interaction with FK506-binding protein. J Biol Chem 282:6976–6983

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Inserm U836—Grenoble Institut des Neurosciences—Equipe Muscle et Pathologies, Bat EJ Safra, Chemin Fortuné Ferrini, 38700 La Tronche, France and Université Joseph Fourier, 38000, Grenoble, France

    Julien Fauré, Joël Lunardi, Nicole Monnier & Isabelle Marty

  2. CHRU de Grenoble, Biochimie Génétique et Moléculaire, 38000, Grenoble, France

    Julien Fauré, Joël Lunardi & Nicole Monnier

Authors
  1. Julien Fauré
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Joël Lunardi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Nicole Monnier
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Isabelle Marty
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Isabelle Marty .

Editor information

Editors and Affiliations

  1. Hotchkiss Brain Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Canada

    Norbert Weiss

  2. Department of Neurophysiology and Pharmacology, Medical University Vienna, Vienna, Austria

    Alexandra Koschak

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Fauré, J., Lunardi, J., Monnier, N., Marty, I. (2014). Ryanodine Receptor 1 and Associated Pathologies. In: Weiss, N., Koschak, A. (eds) Pathologies of Calcium Channels. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-40282-1_9

Download citation

Publish with us

Policies and ethics

Search

Navigation