RyR1

Summary

Gene Symbol: RyR1
Description: ryanodine receptor 1
Alias: CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR, ryanodine receptor 1, central core disease of muscle, protein phosphatase 1, regulatory subunit 137, ryanodine receptor 1 (skeletal), sarcoplasmic reticulum calcium release channel, skeletal muscle calcium release channel, skeletal muscle ryanodine receptor, type 1-like ryanodine receptor
Species: human
Products:     RyR1

Top Publications

  1. Anderson A, Brown R, Polster B, Pollock N, Stowell K. Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. Anesthesiology. 2008;108:208-15 pubmed publisher
    Mutations in the skeletal muscle ryanodine receptor gene may result in altered calcium release from sarcoplasmic reticulum stores, giving rise to malignant hyperthermia (MH)...
  2. Gillard E, Otsu K, Fujii J, Khanna V, de Leon S, Derdemezi J, et al. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991;11:751-5 pubmed
    ..The skeletal muscle ryanodine receptor (RYR1) gene has been linked to porcine and human MH...
  3. Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry C, et al. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet. 2006;79:859-68 pubmed
    ..Mutations in the skeletal-muscle ryanodine-receptor gene (RYR1) are associated with malignant hyperthermia susceptibility and the congenital myopathies central core disease and ..
  4. Girard T, Urwyler A, Censier K, Mueller C, Zorzato F, Treves S. Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Hum Mutat. 2001;18:357-8 pubmed
    ..heterogenetic disease with about 50% of MH families linked to the locus of the ryanodine receptor calcium channel (RYR1)...
  5. Groom L, Muldoon S, Tang Z, Brandom B, Bayarsaikhan M, Bina S, et al. Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families. Anesthesiology. 2011;115:938-45 pubmed publisher
    Mutations in the type 1 ryanodine receptor gene (RYR1) result in malignant hyperthermia, a pharmacogenetic disorder typically triggered by administration of anesthetics...
  6. Fessenden J. Förster resonance energy transfer measurements of ryanodine receptor type 1 structure using a novel site-specific labeling method. PLoS ONE. 2009;4:e7338 pubmed publisher
    While the static structure of the intracellular Ca(2+) release channel, the ryanodine receptor type 1 (RyR1) has been determined using cryo electron microscopy, relatively little is known concerning changes in RyR1 structure that ..
  7. Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwyler A, et al. Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009;30:590-8 pubmed publisher
    ..Today, genetic investigations on ryanodine receptor type 1 (RYR1) gene and alpha1 subunit of the dihydropyridine receptor (DHPR) (CACNA1S) gene have improved the procedures ..
  8. Carpenter D, Robinson R, Quinnell R, Ringrose C, Hogg M, Casson F, et al. Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009;103:538-48 pubmed publisher
    ..MH) is associated, in the majority of cases, with mutations in RYR1, the gene encoding the skeletal muscle ryanodine receptor. Our primary aim was to assess whether different RYR1 variants are associated with quantitative ..
  9. Zullo A, Klingler W, De Sarno C, Ferrara M, Fortunato G, Perrotta G, et al. Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009;30:E575-90 pubmed publisher
    Mutations in the RYR1 gene are linked to malignant hyperthermia (MH), central core disease and multi-minicore disease...

More Information

Publications94

  1. Nishio H, Sato T, Fukunishi S, Tamura A, Iwata M, Tsuboi K, et al. Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature. Leg Med (Tokyo). 2009;11:142-3 pubmed publisher
    ..Mutations in the ryanodine receptor type 1 gene (RYR1) are associated with MH-susceptibility...
  2. Phillips M, Fujii J, Khanna V, DeLeon S, Yokobata K, de Jong P, et al. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics. 1996;34:24-41 pubmed
    The RYR1 gene encoding the Ca2+ release channel of human skeletal muscle sarcoplasmic reticulum has been cloned and exon/intron boundaries have been determined, together with a minimum of 30 bp of intron sequence flanking each splice ..
  3. Robinson R, Carpenter D, Halsall P, Iles D, Booms P, Steele D, et al. Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility. Br J Anaesth. 2009;103:220-5 pubmed publisher
    Tissue-specific monoallelic silencing of the RYR1 gene has been proposed as an explanation for variable penetrance of dominant RYR1 mutations in malignant hyperthermia (MH)...
  4. Otsu K, Nishida K, Kimura Y, Kuzuya T, Hori M, Kamada T, et al. The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J Biol Chem. 1994;269:9413-5 pubmed
    ..These results provide definite evidence that a single amino acid mutation, Arg615-->Cys, in the ryanodine receptor is causative of MH. ..
  5. Girard T, Cavagna D, Padovan E, Spagnoli G, Urwyler A, Zorzato F, et al. B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J Biol Chem. 2001;276:48077-82 pubmed
    ..of the sarcoplasmic reticulum, and in many cases this is a result of point mutations in the skeletal muscle ryanodine receptor calcium release channel (RYR1)...
  6. Monnier N, Romero N, Lerale J, Landrieu P, Nivoche Y, Fardeau M, et al. 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. 2001;10:2581-92 pubmed
    ..CCD has been linked to the gene encoding the ryanodine receptor (RYR1) and is considered to be an allelic disease of malignant hyperthermia susceptibility...
  7. Böhm J, Leshinsky Silver E, Vassilopoulos S, Le Gras S, Lerman Sagie T, Ginzberg M, et al. Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol. 2012;124:575-81 pubmed publisher
    ..We identified the homozygous p.Tyr1088Cys mutation in RYR1, encoding the skeletal muscle ryanodine receptor. This sarcoplasmic reticulum calcium channel is a key regulator of excitation-contraction coupling (..
  8. Chelu M, Goonasekera S, Durham W, Tang W, Lueck J, Riehl J, et al. Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J. 2006;20:329-30 pubmed
    ..Mutation of tyrosine 522 of RyR1 (the predominant skeletal muscle calcium release channel) to serine has been associated with human malignant hyperthermia...
  9. Sambuughin N, Capacchione J, Blokhin A, Bayarsaikhan M, Bina S, Muldoon S. The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. Clin Genet. 2009;76:564-8 pubmed publisher
    ..We hypothesize that patients with unexplained ER harbor mutations in the ryanodine receptor gene type 1 (RYR1), a primary gene implicated in MH, and therefore ER patients are at increased risk for MH...
  10. Treves S, Anderson A, Ducreux S, Divet A, Bleunven C, Grasso C, et al. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord. 2005;15:577-87 pubmed
    The skeletal muscle ryanodine receptor is an intracellular calcium release channel which plays a central role in excitation contraction coupling...
  11. Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, et al. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008;29:670-8 pubmed publisher
    ..Quantitative defects of RYR1 have been reported in families presenting with recessive forms of the disease and epigenic regulation has been ..
  12. Salanova M, Schiffl G, Rittweger J, Felsenberg D, Blottner D. Ryanodine receptor type-1 (RyR1) expression and protein S-nitrosylation pattern in human soleus myofibres following bed rest and exercise countermeasure. Histochem Cell Biol. 2008;130:105-18 pubmed publisher
    The ryanodine receptor type-I (RyR1) is one key player of the excitation-contraction coupling (E-CC) machinery. However, RyR1 expression in human skeletal muscle disuse and plasticity changes are not well documented...
  13. Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, et al. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012;33:981-8 pubmed publisher
    b>Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance...
  14. Davis M, Brown R, Dickson A, Horton H, James D, Laing N, 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. 2002;88:508-15 pubmed
    ..the presence of a common novel mutation that results in an arginine401-cysteine substitution in the skeletal muscle ryanodine receptor gene (RYR1)...
  15. Tilgen N, Zorzato F, Halliger Keller B, Muntoni F, Sewry C, Palmucci L, 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. 2001;10:2879-87 pubmed
    The skeletal muscle ryanodine receptor gene (RYR1; OMIM 180901) on chromosome 19q13.1 encodes the skeletal muscle calcium release channel. To date, more than 25 missense mutations have been identified in RYR1 and are associated with ..
  16. Wilmshurst J, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010;68:717-26 pubmed publisher
    ..RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and has been implicated in various congenital myopathies...
  17. Jungbluth H, Zhou H, Sewry C, Robb S, Treves S, Bitoun M, et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2007;17:338-45 pubmed
    ..muscle MRI was compatible with the pattern we previously reported in patients with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Mutational analysis identified a de novo dominant RYR1 missense mutation (c...
  18. Sato I, Wu S, Ibarra M, Hayashi Y, Fujita H, Tojo M, et al. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology. 2008;70:114-22 pubmed
    ..We recently reported that almost all patients with central core disease (CCD) with ryanodine receptor 1 gene (RYR1) mutations in the C-terminal domain had type 1 fibers, nearly exclusively, in addition to ..
  19. Sei Y, Gallagher K, Basile A. Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes. J Biol Chem. 1999;274:5995-6002 pubmed
    ..major isoform of the RYR expressed in primary CD19(+) B and DAKIKI cells is identical to the skeletal muscle type (RYR1)...
  20. Clarke N, Waddell L, Cooper S, Perry M, Smith R, Kornberg A, et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010;31:E1544-50 pubmed publisher
    ..To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes of CFTD had been ..
  21. Fujii J, Otsu K, Zorzato F, de Leon S, Khanna V, Weiler J, et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991;253:448-51 pubmed
    ..A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine...
  22. Canato M, Capitanio P, Reggiani C, Cancellara L. The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?. J Muscle Res Cell Motil. 2015;36:61-9 pubmed publisher
    ..muscles directly related to mutations of genes coding for proteins of the CRU, primarily ryanodine receptor (RYR1)...
  23. Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Malignant hyperthermia: a review. Orphanet J Rare Dis. 2015;10:93 pubmed publisher
    ..Over 400 variants have been identified in the RYR1 gene located on chromosome 19q13.1, and at least 34 are causal for MH...
  24. Tsabarducas V, Chatzistathis T, Therios I, Koukourikou Petridou M, Tananaki C. Differential tolerance of 3 self-rooted Citrus limon cultivars to NaCl stress. Plant Physiol Biochem. 2015;97:196-206 pubmed publisher
    ..The experiment included 3 treatments: i) control (C), i.e. 25% modified Hoagland (No2) solution (MHS)-NaCl, ii) T1, 25% MHS+80 mM NaCl, iii) T2, 25% MHS+80 mM NaCl+5 mM KNO3...
  25. Lazier J, Mah J, Nikolic A, Wei X, Samedi V, Fajardo C, et al. Bilateral congenital lumbar hernias in a patient with central core disease--A case report. Neuromuscul Disord. 2016;26:56-9 pubmed publisher
    ..Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease...
  26. Xu J, Liu F, Li W, Zhao Y, Zhao D, Luo Y, et al. Cylindrical Spirals in Skeletal Muscles Originate From the Longitudinal Sarcoplasmic Reticulum. J Neuropathol Exp Neurol. 2016;75:148-55 pubmed
    ..longitudinal SR, but no immunoreactivity for calsequestrin in the terminal cisternae or type 1 ryanodine receptor (RYR1) in the junctional SR...
  27. Darcy Y, Diaz Sylvester P, Copello J. K201 (JTV519) is a Ca2+-Dependent Blocker of SERCA and a Partial Agonist of Ryanodine Receptors in Striated Muscle. Mol Pharmacol. 2016;90:106-15 pubmed publisher
    ..reticulum (SR) in the ischemic heart and skeletal muscle (SkM) by stabilizing the ryanodine receptors (RyRs; RyR1 and RyR2, respectively). We tested direct modulation of the SR Ca(2+)-stimulated ATPase (SERCA) and RyRs by K201...
  28. Wang Y, Shi Y, Wei H. Calcium Dysregulation in Alzheimer's Disease: A Target for New Drug Development. J Alzheimers Dis Parkinsonism. 2017;7: pubmed publisher
    ..the abnormal and excessive Ca2+ release from the endoplasmic reticulum (ER) via the ryanodine receptor (RYR), plays important roles in orchestrating the dynamic of the neuropathology of AD and associated memory loss, ..
  29. Manning B, Quane K, Ording H, Urwyler A, Tegazzin V, Lehane M, et al. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet. 1998;62:599-609 pubmed
    ..The ryanodine receptor (RYR1) is mutated in a number of MH pedigrees, some members of which also have central core disease (CCD), an inherited ..
  30. Tanabe T, Fukusaki M, Terao Y, Yamashita K, Sumikawa K, Mukaida K, et al. Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. J Anesth. 2008;22:70-3 pubmed publisher
    ..The ryanodine receptor (RYR1), encoding the major calcium-release channel in skeletal muscle sarcoplasmic reticulum, has been shown to be ..
  31. Sharma A, Nakade U, Choudhury S, Garg S. Functional involvement of protein kinase C, Rho-kinase and TRPC3 decreases while PLC increases with advancement of pregnancy in mediating oxytocin-induced myometrial contractions in water buffaloes (Bubalus bubalis). Theriogenology. 2017;92:176-189 pubmed publisher
    ..Our finding suggest that and L-type Ca2+ channels, IP3-RyR-gated, and store-operated calcium channels including transient receptor potential channel (TRPC) pathways play ..
  32. Clarke O, Hendrickson W. Structures of the colossal RyR1 calcium release channel. Curr Opin Struct Biol. 2016;39:144-152 pubmed publisher
    ..reconstructions and associated atomic models of multiple functional states of the skeletal muscle receptor, RyR1. Here we review recent advances in our understanding of RyR architecture and gating, and highlight remaining gaps ..
  33. Kang P, Ryu K, Lee J, Kim H, Seol G. Endothelium- and smooth muscle-dependent vasodilator effects of Citrus aurantium L. var. amara: Focus on Ca(2+) modulation. Biomed Pharmacother. 2016;82:467-71 pubmed publisher
    ..via smooth muscle voltage-gated Ca(2+) channels, neroli-induced relaxation was reduced by the ryanodine receptor (RyR) inhibitor ruthenium red...
  34. Stock R, Hall J, Chang A, Cohen D. Physicians' early perspectives on Oregon's Coordinated Care Organizations. Healthc (Amst). 2016;4:92-7 pubmed publisher
    ..The aim of this study was to understand the current and perceived effect CCO-related changes have on Oregon physicians' professional and personal lives...
  35. Naumann R, Geiss A, Steininger C, Knoll W. Biomimetic Membranes for Multi-Redox Center Proteins. Int J Mol Sci. 2016;17:330 pubmed publisher
    ..MRPs, such as the cytochrome c oxidase (CcO) from R. sphaeroides and P. denitrificans, as well as photosynthetic reactions centers (RCs) from R...
  36. Ruehr M, Russell M, Ferguson D, Bhat M, Ma J, Damron D, et al. Targeting of protein kinase A by muscle A kinase-anchoring protein (mAKAP) regulates phosphorylation and function of the skeletal muscle ryanodine receptor. J Biol Chem. 2003;278:24831-6 pubmed
    ..which is unable to anchor PKA, was expressed in CHO cells stably expressing the skeletal muscle isoform of RyR (CHO-RyR1). Immunoelectron microscopy showed that mAKAP co-localized with RyR1 in disrupted skeletal muscle...
  37. Zhang L, Kelley J, Schmeisser G, Kobayashi Y, Jones L. Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane. J Biol Chem. 1997;272:23389-97 pubmed
    ..Taken together, these results suggest that junctin, calsequestrin, triadin, and the ryanodine receptor form a quaternary complex that may be required for normal operation of Ca2+ release. ..
  38. Kamandulis S, de Souza Leite F, Hernández A, Katz A, Brazaitis M, Bruton J, et al. Prolonged force depression after mechanically demanding contractions is largely independent of Ca2+ and reactive oxygen species. FASEB J. 2017;31:4809-4820 pubmed publisher
    ..Drop jumps induced only minor signs of increased ROS, and RyR1 fragmentation was observed in only 3 of 7 elderly subjects...
  39. Pinczolits A, Zdunczyk A, Dengler N, Hecht N, Kowoll C, Dohmen C, et al. Standard-sampling microdialysis and spreading depolarizations in patients with malignant hemispheric stroke. J Cereb Blood Flow Metab. 2017;37:1896-1905 pubmed publisher
    Spreading depolarizations (SD) occur in high frequency in patients with malignant hemispheric stroke (MHS). Experimentally, SDs cause marked increases in glutamate and lactate, whereas glucose decreases...
  40. Bendzsak A, Waddell T, Yasufuku K, Keshavjee S, de Perrot M, Cypel M, et al. Invasive Mediastinal Staging Guideline Concordance. Ann Thorac Surg. 2017;103:1736-1741 pubmed publisher
    ..A chart audit was performed to determine adherence to Cancer Care Ontario (CCO) IMS guideline criteria, and pathologic reports were reviewed to determine postresection staging...
  41. Ogata H, Fujimaru I, Kondo T. Degree of exercise intensity during continuous chest compression in upper-body-trained individuals. J Physiol Anthropol. 2015;34:43 pubmed publisher
    Although chest-compression-only cardiopulmonary resuscitation (CCO-CPR) is recommended for lay bystanders, fatigue is easily produced during CCO-CPR...
  42. Perini M, Carbone G, Camin F. Stable isotope ratio analysis for authentication of red yeast rice. Talanta. 2017;174:228-233 pubmed publisher
    Red yeast rice (RYR) is a dietary supplement obtained from rice fermented with the mould Monascus purpureus. It contains Monacolin K which is a hypocholesterolemic statin used to prevent cardiovascular diseases...
  43. Godunov I, Yakovlev N, Terentiev R, Maslov D, Abramenkov A. The S1 ? S0 fluorescence excitation spectrum and structure of propanal in the S1 excited electronic state. Phys Chem Chem Phys. 2016;18:15244-50 pubmed publisher
    ..A number of energy levels have been found for torsional and inversional vibrations, and also fundamentals of ?10 (CCO bend) and ?13 (CCC bend) for the both 1 and 3 conformers of propanal-h1 and -d1 have been found...
  44. Ryan T, Sharma P, Ignatchenko A, MacLennan D, Kislinger T, Gramolini A. Identification of novel ryanodine receptor 1 (RyR1) protein interaction with calcium homeostasis endoplasmic reticulum protein (CHERP). J Biol Chem. 2011;286:17060-8 pubmed publisher
    The ryanodine receptor type 1 (RyR1) is a homotetrameric Ca(2+) release channel located in the sarcoplasmic reticulum of skeletal muscle where it plays a role in the initiation of skeletal muscle contraction...
  45. Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, et al. Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011;68:1171-9 pubmed publisher
    ..pattern of muscle involvement in a large cohort of patients with molecularly defined ryanodine receptor type 1 (RYR1)-related myopathies, to identify possible additional patterns, and to compare magnetic resonance imaging (MRI) ..
  46. Singh P, Sharma B. Reversal in Cognition Impairments, Cholinergic Dysfunction, and Cerebral Oxidative Stress Through the Modulation of Ryanodine Receptors (RyRs) and Cysteinyl Leukotriene-1 (CysLT1) Receptors. Curr Neurovasc Res. 2016;13:10-21 pubmed
    ..The purpose of this study is to examine the role of ruthenium red; a selective RyR blocker as well as montelukast; a specific CysLT1 antagonist in CCH induced VaD in mice...
  47. Takahashi A, Nagaoka T, Yoshida A. Enhanced vitreous imaging optical coherence tomography in primary macular holes. Int Ophthalmol. 2016;36:355-63 pubmed publisher
    ..pilot study is to investigate the efficacy of a novel enhanced vitreous imaging (EVI) in primary macular holes (MHs) using a spectral-domain optical coherence tomography (SD-OCT)...
  48. Hartmann N, Pabel S, Herting J, Schatter F, Renner A, Gummert J, et al. Antiarrhythmic effects of dantrolene in human diseased cardiomyocytes. Heart Rhythm. 2017;14:412-419 pubmed publisher
    Cardiac type 2 ryanodine receptors (RyR2s) play a pivotal role in cellular electrophysiology and contractility...
  49. Pelisch N, Gomes C, Nally J, Petruska J, Stirling D. Differential expression of ryanodine receptor isoforms after spinal cord injury. Neurosci Lett. 2017;660:51-56 pubmed publisher
    ..traumatic injury to the spinal cord (SCI), but the spatiotemporal expression of the three isoforms of RyRs (RyR1-3) after SCI remains unknown...
  50. Rebbeck R, Nitu F, Rohde D, Most P, Bers D, Thomas D, et al. S100A1 Protein Does Not Compete with Calmodulin for Ryanodine Receptor Binding but Structurally Alters the Ryanodine Receptor·Calmodulin Complex. J Biol Chem. 2016;291:15896-907 pubmed publisher
    ..that S100A1 directly competes with calmodulin (CaM) for binding to intact, functional ryanodine receptors type I (RyR1) and II (RyR2) from skeletal and cardiac muscle, respectively...
  51. Linsley J, Hsu I, Groom L, Yarotskyy V, Lavorato M, Horstick E, et al. Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. Proc Natl Acad Sci U S A. 2017;114:E228-E236 pubmed publisher
    ..dihydropyridine receptors (DHPRs) in transverse tubule membrane and Ca2+ release channel ryanodine receptor 1 (RyR1) in the sarcoplasmic reticulum (SR)...
  52. Matecki S, Jung B, Saint N, Scheuermann V, Jaber S, Lacampagne A. Respiratory muscle contractile inactivity induced by mechanical ventilation in piglets leads to leaky ryanodine receptors and diaphragm weakness. J Muscle Res Cell Motil. 2017;38:17-24 pubmed publisher
    ..recently suggested that remodeling of the sarcoplasmic reticulum (SR) calcium release channel/ryanodine receptors (RyR1) in the diaphragm is a proximal mechanism of VIDD...
  53. Popescu I, Galice S, Mohler P, Despa S. Elevated local [Ca2+] and CaMKII promote spontaneous Ca2+ release in ankyrin-B-deficient hearts. Cardiovasc Res. 2016;111:287-94 pubmed publisher
    ..In contrast, the PKA-mediated RyR phosphorylation was comparable in AnkB(+/-) and wild-type (WT) mice...
  54. Ward C, Feng W, Tu J, Pessah I, Worley P, Schneider M. Homer protein increases activation of Ca2+ sparks in permeabilized skeletal muscle. J Biol Chem. 2004;279:5781-7 pubmed
    ..Recent work has demonstrated direct interaction of Homer proteins with type 1 and type 2 ryanodine receptor (RyR) isoforms...
  55. Oba T, Ishikawa T, Murayama T, Ogawa Y, Yamaguchi M. H(2)O(2) and ethanol act synergistically to gate ryanodine receptor/calcium-release channel. Am J Physiol Cell Physiol. 2000;279:C1366-74 pubmed
    ..Sarcoplasmic reticulum vesicles from frog skeletal muscle and type 1 RyRs (RyR1) purified from rabbit skeletal muscle were incorporated into lipid bilayers...
  56. Chen M, Hsu Y, Wang T, Chien S. Mycotoxin monitoring for commercial foodstuffs in Taiwan. J Food Drug Anal. 2016;24:147-156 pubmed publisher
    ..A (OTA) in wheat and roasted coffee, as well as OTA and AFs in rice; and citrinin (CIT) in red yeast rice (RYR) products. A total of 712 samples from nine different food categories were collected between 2012 and 2013...
  57. Chang J, Tabet M, Elder K, Kiel D, Flick L. Racial/Ethnic Differences in the Correlates of Mental Health Services Use among Pregnant Women with Depressive Symptoms. Matern Child Health J. 2016;20:1911-22 pubmed publisher
    Objectives To examine correlates of lifetime mental health services (MHS) use among pregnant women reporting prenatal depressive symptoms by race/ethnicity...
  58. Grievink H, Stowell K. Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia. Orphanet J Rare Dis. 2010;5:10 pubmed publisher
    ..1, the position of the gene encoding the ryanodine receptor skeletal muscle calcium release channel (RyR1)...
  59. Amburgey K, McNamara N, Bennett L, McCormick M, Acsadi G, Dowling J. Prevalence of congenital myopathies in a representative pediatric united states population. Ann Neurol. 2011;70:662-5 pubmed publisher
    ..The overall point prevalence was 1:26,000. Mutations in RYR1 were the most common cause of congenital myopathies at 1:90,000...
  60. Williams V, Stahlman S, Fan M. Measles, mumps, rubella, and varicella among service members and other beneficiaries of the Military Health System, 2010-2016. MSMR. 2017;24:2-11 pubmed
    ..2010-2016, there were 11 confirmed measles cases and 76 confirmed mumps cases among all Military Health System (MHS) beneficiaries. Only one of the confirmed cases of measles was in a service member...
  61. Tammaro A, Di Martino A, Bracco A, Cozzolino S, Savoia G, Andria B, et al. Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011;79:438-47 pubmed publisher
    ..Mutations of the ryanodine receptor 1 (RYR1) gene account for most cases, with some studies claiming up to 86% of mutations in this locus...
  62. Lopez R, Byrne S, Vukcevic M, Sekulic Jablanovic M, Xu L, Brink M, et al. An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Sci Signal. 2016;9:ra68 pubmed publisher
    ..About 50% of susceptible individuals carry dominant, gain-of-function mutations in RYR1 [which encodes ryanodine receptor type 1 (RyR1)], though they have normal muscle function and no overt clinical ..
  63. Huang J, Wang Y, Zhang M, Zhang P, Liang H, Bai H, et al. Functional expression of the Ca2+ signaling machinery in human embryonic stem cells. Acta Pharmacol Sin. 2017;38:1663-1672 pubmed publisher
    ..In addition, Ca2+ transients were induced by a ryanodine receptor (RyR) activator, caffeine, in 10%-15% of hESCs and were blocked by ryanodine, whereas caffeine and ATP did not have ..
  64. Remiche G, Kadhim H, Abramowicz M, Mavroudakis N, Monnier N, Lunardi J. A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy. Neuromuscul Disord. 2015;25:397-402 pubmed publisher
    We report a novel and particularly unusual type of mutation, namely, large deletion in the RYR1 gene, in a Belgian family with myopathy: Patients were found to be compound heterozygous and presented a clinico-pathological phenotype ..
  65. Wolak S, Rucker B, Kohlschmidt N, Doetsch S, Bartsch O, Zechner U, et al. [Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia]. Anaesthesist. 2014;63:643-50 pubmed publisher
    ..a life-threatening, acute pharmacogenetic disorder mostly due to heterozygous mutations in the ryanodin receptor 1 (RYR1) gene. Diagnosis is generally confirmed by the in vitro contracture test (IVCT)...
  66. Santoro M, Piacentini R, Masciullo M, Bianchi M, Modoni A, Podda M, et al. Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. Neuropathol Appl Neurobiol. 2014;40:464-76 pubmed publisher
    ..and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca(2+)-ATPase (SERCA) and α1S subunit of voltage-gated Ca(2+) ..
  67. Hong K, Shin D, Lee S, Son N, Go M, Lim J, et al. Common variants in RYR1 are associated with left ventricular hypertrophy assessed by electrocardiogram. Eur Heart J. 2012;33:1250-6 pubmed publisher
    ..There was consistent association with the 19q13.1 region which contains RYR1 gene...
  68. Keating K, Giblin L, Lynch P, Quane K, Lehane M, Heffron J, et al. Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J Med Genet. 1997;34:291-6 pubmed
    Defects in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia (MH), an autosomal dominant disorder of skeletal muscle and one of the main causes of death resulting from anaesthesia...
  69. Monnier N, Procaccio V, Stieglitz P, Lunardi J. 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. 1997;60:1316-25 pubmed
    ..However, except for the MHS1 locus, which corresponds to the skeletal muscle ryanodine receptor (RYR1) and for which several mutations have been described, no direct molecular evidence for a ..
  70. Du G, Avila G, Sharma P, Khanna V, Dirksen R, MacLennan D. 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. 2004;279:37566-74 pubmed
    ..Enhanced green fluorescent protein (EGFP) was inserted into RyR1 and truncated just after the basic sequence, just after M4, within the M4/M5 loop, just before M5 and just after M5...
  71. Voermans N, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, et al. Congenital myopathy with focal loss of cross-striations revisited. Neuromuscul Disord. 2013;23:160-4 pubmed publisher
    ..from the Dutch family and report recently identified compound heterozygous mutations in the skeletal muscle ryanodine receptor (RYR1) gene, c.10627-2A>G and p.Arg3539His (c.10616G>A)...
  72. Vukcevic M, Broman M, Islander G, Bodelsson M, Ranklev Twetman E, Muller C, et al. Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg. 2010;111:185-90 pubmed publisher
    ..designed a protocol for genetic screening of the RYR1-cDNA and for functional testing of newly identified ryanodine receptor 1 (RYR1) gene variants in B lymphocytes isolated from peripheral blood samples drawn at local primary care ..
  73. Sun J, Xu L, Eu J, Stamler J, Meissner G. Nitric oxide, NOC-12, and S-nitrosoglutathione modulate the skeletal muscle calcium release channel/ryanodine receptor by different mechanisms. An allosteric function for O2 in S-nitrosylation of the channel. J Biol Chem. 2003;278:8184-9 pubmed
    The skeletal muscle Ca(2+) release channel/ryanodine receptor (RyR1) contains approximately 50 thiols per subunit...
  74. Fortin M, Bamvita J, Fleury M. Patient satisfaction with mental health services based on Andersen's Behavioral Model. Can J Psychiatry. 2017;:706743717737030 pubmed publisher
    The purpose of this article was to assess the satisfaction of adult patients who received mental health services (MHS) in healthcare networks staffed by multidisciplinary professionals and offering a range of MHS, and to identify ..
  75. Efremov R, Gatsogiannis C, Raunser S. Lipid Nanodiscs as a Tool for High-Resolution Structure Determination of Membrane Proteins by Single-Particle Cryo-EM. Methods Enzymol. 2017;594:1-30 pubmed publisher
    ..applications of nanodiscs in cryo-EM, namely, the structure determination of the rabbit ryanodine receptor, RyR1, and the pore-forming TcdA1 toxin subunit from Photorhabdus luminescens...
  76. Otsu K, Phillips M, Khanna V, de Leon S, MacLennan D. Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Genomics. 1992;13:835-7 pubmed
    The substitutions of T for C1843 in the porcine ryanodine receptor (RYR1) gene, which deletes a HinPI restriction endonuclease site and creates a HgiAI site, and of T for C1840 in human RYR1, which deletes a RsaI site, lead to Cys for Arg ..
  77. Wright N, Prosser B, Varney K, Zimmer D, Schneider M, Weber D. S100A1 and calmodulin compete for the same binding site on ryanodine receptor. J Biol Chem. 2008;283:26676-83 pubmed publisher
    ..in skeletal muscle and showed that Ca(2+)-S100A1 competes with Ca(2+)-calmodulin (CaM) for the same binding site on RyR1. In addition, the NMR structure was determined for Ca(2+)-S100A1 bound to a peptide derived from this CaM/S100A1 ..
  78. Singh K, Briggs J. Functional Implications of the spectrum of BCL2 mutations in Lymphoma. Mutat Res Rev Mutat Res. 2016;769:1-18 pubmed publisher
    ..member proteins crucial for 1) maintaining mitochondrial energetics and calcium hemostasis such as VDAC, IP3R, and RyR and 2) oncogenic pathways implicated in the acquisition of the 'hallmarks of cancer' such as SOD, Raf-1, NFAT, p53, ..
  79. Moroni I, Gonano E, Comi G, Tegazzin V, Prelle A, Bordoni A, et al. Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. J Neurol. 1995;242:127-33 pubmed
    ..Previous studies have reported that inherited mutations in the ryanodine receptor (RYR1) gene co-segregated, in some families, with MH susceptibility; lack of linkage between MH and the RYR1 gene in some ..
  80. Gu M, Zhang S, Hu J, Yuan Y, Wang Z, Da Y, et al. Novel RYR1 missense mutations in six Chinese patients with central core disease. Neurosci Lett. 2014;566:32-5 pubmed publisher
    Central core disease (CCD) is a genetically heterogeneous congenital myopathy, and ryanodine receptor 1 (RYR1, gene ID6261) is the only pathogenicity gene until now...
  81. Taylor A, Lachlan K, Manners R, Lotery A. A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. J Clin Neurosci. 2012;19:65-70 pubmed publisher
    ..A sub-group of these is associated with malignant hyperthermia susceptibility. Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with various congenital myopathy phenotypes and may also cause ..
  82. Tae H, Wei L, Willemse H, Mirza S, Gallant E, Board P, et al. The elusive role of the SPRY2 domain in RyR1. Channels (Austin). 2011;5:148-60 pubmed
    The second of three SPRY domains (SPRY2, S1085 -V1208) located in the skeletal muscle ryanodine receptor (RyR1) is contained within regions of RyR1 that influence EC coupling and bind to imperatoxin A, a toxin probe of RyR1 channel gating...
  83. Metzl J, Petty J, Olowojoba O. Using a structural competency framework to teach structural racism in pre-health education. Soc Sci Med. 2018;199:189-201 pubmed publisher
    ..The authors describe the interdisciplinary pre-health curriculum, titled Medicine, Health, and Society (MHS) at Vanderbilt University...
  84. Rueffert H, Wehner M, Ogunlade V, Meinecke C, Schober R. Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met. Clin Neuropathol. 2009;28:409-16 pubmed
    ..in an autosomal-dominant manner and is primarily due to mutations in the gene for the ryanodine receptor type 1 (RyR1)...
  85. Blomberg M, Adelroth P. The mechanism for oxygen reduction in cytochrome c dependent nitric oxide reductase (cNOR) as obtained from a combination of theoretical and experimental results. Biochim Biophys Acta Bioenerg. 2017;1858:884-894 pubmed publisher
    ..One approach towards this goal is to compare the mechanisms for the different types of HCuOs, cytochrome c oxidase (CcO) and NOR, reducing the two substrates O2 and NO...