Ryr1

Summary

Gene Symbol: Ryr1
Description: ryanodine receptor 1, skeletal muscle
Alias: AI528790, RYR-1, Ryr, skrr, ryanodine receptor 1, calcium release channel, skeletal muscle calcium release channel, skeletal muscle ryanodine receptor, skeletal muscle-type ryanodine receptor, type 1 ryanodine receptor
Species: mouse
Products:     Ryr1

Top Publications

  1. Takekura H, Nishi M, Noda T, Takeshima H, Franzini Armstrong C. Abnormal junctions between surface membrane and sarcoplasmic reticulum in skeletal muscle with a mutation targeted to the ryanodine receptor. Proc Natl Acad Sci U S A. 1995;92:3381-5 pubmed
    ..Since junctions form in the absence of feet and tetrads, coupling of SR to surface membrane and T tubules appears to be mediated by additional proteins, distinct from either RyRs or DHPRs. ..
  2. Johnson J, Kuang S, Misler S, Polonsky K. Ryanodine receptors in human pancreatic beta cells: localization and effects on insulin secretion. FASEB J. 2004;18:878-80 pubmed
    ..In diabetes, the expression and function of ryanodine receptor (RyR) Ca2+ release channels are reduced...
  3. Yang T, Allen P, Pessah I, Lopez J. Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations. J Biol Chem. 2007;282:37471-8 pubmed
    Myotubes expressing wild type RyR1 (WT) or RyR1 with one of three malignant hyperthermia mutations R615C, R2163C, and T4826I (MH) were exposed sequentially to 60 mm KCl in Ca(2+)-replete and Ca(2+)-free external buffers (Ca+ and Ca-, ..
  4. Zvaritch E, Depreux F, Kraeva N, Loy R, Goonasekera S, Boncompagni S, et al. An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc Natl Acad Sci U S A. 2007;104:18537-42 pubmed
    A heterozygous Ile4898 to Thr (I4898T) mutation in the human type 1 ryanodine receptor/Ca(2+) release channel (RyR1) leads to a severe form of central core disease...
  5. Barone V, Bertocchini F, Bottinelli R, Protasi F, Allen P, Franzini Armstrong C, et al. Contractile impairment and structural alterations of skeletal muscles from knockout mice lacking type 1 and type 3 ryanodine receptors. FEBS Lett. 1998;422:160-4 pubmed
    ..muscle contraction is triggered by the release of Ca2+ from the sarcoplasmic reticulum through the type 1 ryanodine receptor (RyR1)...
  6. Takekura H, Flucher B, Franzini Armstrong C. Sequential docking, molecular differentiation, and positioning of T-Tubule/SR junctions in developing mouse skeletal muscle. Dev Biol. 2001;239:204-14 pubmed
    ..They contain high concentrations of dihydropyridine receptors (DHPRs) in the T-tubules and of ryanodine receptors (RyR) in the SR and they are positioned at specific locations in the sarcomere...
  7. Kimura T, Lueck J, Harvey P, Pace S, Ikemoto N, Casarotto M, et al. Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling. Cell Calcium. 2009;45:264-74 pubmed publisher
    Alternative splicing of ASI residues (Ala(3481)-Gln(3485)) in the skeletal muscle ryanodine receptor (RyR1) is developmentally regulated: the residues are present in adult ASI(+)RyR1, but absent in the juvenile ASI(-)RyR1 which is over-..
  8. Lanner J, Georgiou D, Dagnino Acosta A, Ainbinder A, Cheng Q, Joshi A, et al. AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation. Nat Med. 2012;18:244-51 pubmed publisher
    Mice with a knock-in mutation (Y524S) in the type I ryanodine receptor (Ryr1), a mutation analogous to the Y522S mutation that is associated with malignant hyperthermia in humans, die when exposed to short periods of temperature elevation ..
  9. Liu X, Betzenhauser M, Reiken S, Meli A, Xie W, Chen B, et al. Role of leaky neuronal ryanodine receptors in stress-induced cognitive dysfunction. Cell. 2012;150:1055-67 pubmed publisher
    The type 2 ryanodine receptor/calcium release channel (RyR2), required for excitation-contraction coupling in the heart, is abundant in the brain...

More Information

Publications80

  1. Zhao M, Li P, Li X, Zhang L, Winkfein R, Chen S. Molecular identification of the ryanodine receptor pore-forming segment. J Biol Chem. 1999;274:25971-4 pubmed
    ..These data suggest that this conserved region constitutes an essential part of the ryanodine binding site and the channel conduction pathway of the ryanodine receptor. ..
  2. Esteve E, Eltit J, Bannister R, Liu K, Pessah I, Beam K, et al. A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR. J Gen Physiol. 2010;135:619-28 pubmed publisher
    ..1,4-dihydropyridine receptor [DHPR]) and the sarcoplasmic reticulum (SR) Ca(2+) release channel (type 1 ryanodine receptor [RYR1]) of skeletal muscle is essential for excitation-contraction coupling (ECC) and is a well-..
  3. Buck E, Nguyen H, Pessah I, Allen P. Dyspedic mouse skeletal muscle expresses major elements of the triadic junction but lacks detectable ryanodine receptor protein and function. J Biol Chem. 1997;272:7360-7 pubmed
    ..Dyspedic mice and cells derived from them serve as excellent homologous expression systems in which to study how Ry1R structure relates to function. ..
  4. Bannister R, Esteve E, Eltit J, Pessah I, Allen P, Lopez J, et al. A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels. J Gen Physiol. 2010;135:629-40 pubmed publisher
    ..Bidirectional communication between the 1,4-dihydropyridine receptor (DHPR) in the plasma membrane and the type 1 ryanodine receptor (RYR1) in the sarcoplasmic reticulum (SR) is responsible for both skeletal-type excitation-contraction ..
  5. Vega A, Ramos Mondragón R, Calderón Rivera A, Zarain Herzberg A, Avila G. Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1. J Physiol. 2011;589:4649-69 pubmed publisher
    ..core disease (CCD) is a congenital human myopathy associated with mutations in the gene encoding the skeletal muscle ryanodine receptor (RyR1), resulting in skeletal muscle weakness and lower limb deformities...
  6. Takeshima H, Iino M, Takekura H, Nishi M, Kuno J, Minowa O, et al. Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene. Nature. 1994;369:556-9 pubmed
    ..We report here mice with a targeted mutation in the skeletal muscle ryanodine receptor gene...
  7. Boncompagni S, Loy R, Dirksen R, Franzini Armstrong C. The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging. Aging Cell. 2010;9:958-70 pubmed publisher
    The I4898T (IT) mutation in type 1 ryanodine receptor (RyR1), the Ca(2+) release channel of the sarcoplasmic reticulum (SR) is linked to a form of central core disease (CCD) in humans and results in a nonleaky channel and excitation-..
  8. Lefebvre R, Legrand C, González Rodríguez E, Groom L, Dirksen R, Jacquemond V. Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres. J Physiol. 2011;589:5361-82 pubmed publisher
    Mutations of the gene encoding the type 1 ryanodine receptor (RyR1) are associated with skeletal muscle disorders including malignant hyperthermia susceptibility (MHS) and central core disease (CCD)...
  9. Andronache Z, Hamilton S, Dirksen R, Melzer W. A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice. Proc Natl Acad Sci U S A. 2009;106:4531-6 pubmed publisher
    ..muscle, which primarily originates from genetic alterations in the Ca(2+) release channel (ryanodine receptor, RyR1) of the sarcoplasmic reticulum (SR)...
  10. Paolini C, Protasi F, Franzini Armstrong C. The relative position of RyR feet and DHPR tetrads in skeletal muscle. J Mol Biol. 2004;342:145-53 pubmed
    ..Four DHPRs linked to the four binding sites of the RyR1 cytoplasmic domain (or foot), define the corners of a square, constituting a tetrad...
  11. Takekura H, Franzini Armstrong C. Correct targeting of dihydropyridine receptors and triadin in dyspedic mouse skeletal muscle in vivo. Dev Dyn. 1999;214:372-80 pubmed
    ..the targeting of DHPRs and triadin to T-tubules and SR in skeletal muscles of dyspedic mouse embryos lacking RyR1. In normal differentiating muscle fibers DHPRs, triadin and RyRs are located in intensely immunolabeled foci that ..
  12. Boncompagni S, Rossi A, Micaroni M, Hamilton S, Dirksen R, Franzini Armstrong C, et al. Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc Natl Acad Sci U S A. 2009;106:21996-2001 pubmed publisher
    ..MH) and central core disease are related skeletal muscle diseases often linked to mutations in the type 1 ryanodine receptor (RYR1) gene, encoding for the Ca(2+) release channel of the sarcoplasmic reticulum (SR)...
  13. Bannister R, Grabner M, Beam K. The alpha(1S) III-IV loop influences 1,4-dihydropyridine receptor gating but is not directly involved in excitation-contraction coupling interactions with the type 1 ryanodine receptor. J Biol Chem. 2008;283:23217-23 pubmed publisher
    In skeletal muscle, coupling between the 1,4-dihydropyridine receptor (DHPR) and the type 1 ryanodine receptor (RyR1) underlies excitation-contraction (EC) coupling...
  14. Yang T, Riehl J, Esteve E, Matthaei K, Goth S, Allen P, et al. Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology. 2006;105:1164-75 pubmed
    ..in animals, malignant hyperthermia has been associated with missense mutations in the skeletal ryanodine receptor (RyR1)...
  15. Zvaritch E, Kraeva N, Bombardier E, McCloy R, Depreux F, Holmyard D, et al. Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. Proc Natl Acad Sci U S A. 2009;106:21813-8 pubmed publisher
    ..IT/+) mice express a knockin mutation corresponding to the human I4898T EC-uncoupling mutation in the type 1 ryanodine receptor/Ca(2+) release channel (RyR1), which causes a severe form of central core disease (CCD)...
  16. Yang T, Ta T, Pessah I, Allen P. Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem. 2003;278:25722-30 pubmed
    ..that segregates with >60 mutations within the MHS-1 locus on chromosome 19 coding for ryanodine receptor type 1 (RyR1)...
  17. Gregg R, Messing A, Strube C, Beurg M, Moss R, Behan M, et al. Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling. Proc Natl Acad Sci U S A. 1996;93:13961-6 pubmed
  18. Takeshima H, Yamazawa T, Ikemoto T, Takekura H, Nishi M, Noda T, et al. Ca(2+)-induced Ca2+ release in myocytes from dyspedic mice lacking the type-1 ryanodine receptor. EMBO J. 1995;14:2999-3006 pubmed
    While subtypes 1 and 2 of the ryanodine receptor (RyR) function as intracellular Ca2+ release channels, little is known about the function of the third subtype (RyR-3), first identified in brain...
  19. Avila G, Dirksen R. Functional impact of the ryanodine receptor on the skeletal muscle L-type Ca(2+) channel. J Gen Physiol. 2000;115:467-80 pubmed
    ..muscle dihydropyridine receptor is markedly enhanced by the skeletal muscle isoform of the ryanodine receptor (RyR1) (Nakai, J., R.T. Dirksen, H. T. Nguyen, I.N. Pessah, K.G. Beam, and P.D. Allen. 1996. Nature. 380:72-75.)...
  20. Bellinger A, Reiken S, Dura M, Murphy P, Deng S, Landry D, et al. Remodeling of ryanodine receptor complex causes "leaky" channels: a molecular mechanism for decreased exercise capacity. Proc Natl Acad Sci U S A. 2008;105:2198-202 pubmed publisher
    ..Ca2+ release channel required for excitation-contraction coupling (ECC) in skeletal muscle, the ryanodine receptor (RyR1), is progressively PKA-hyperphosphorylated, S-nitrosylated, and depleted of the phosphodiesterase PDE4D3 and the ..
  21. Tarroni P, Rossi D, Conti A, Sorrentino V. Expression of the ryanodine receptor type 3 calcium release channel during development and differentiation of mammalian skeletal muscle cells. J Biol Chem. 1997;272:19808-13 pubmed
    In vertebrate skeletal muscles, the type 1 isoform of ryanodine receptor (RyR1) is essential in triggering contraction by releasing Ca2+ from the sarcoplasmic reticulum in response to plasma membrane depolarisation...
  22. Yarotskyy V, Dirksen R. Temperature and RyR1 regulate the activation rate of store-operated Ca²+ entry current in myotubes. Biophys J. 2012;103:202-11 pubmed publisher
    ..myotubes, as well as the regulation of its rate of activation by temperature and the type I ryanodine receptor (RyR1)...
  23. Giannini G, Conti A, Mammarella S, Scrobogna M, Sorrentino V. The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. J Cell Biol. 1995;128:893-904 pubmed
    ..In the testis, expression of RyR1 and RyR3 was detected in germ cells. RyR mRNAs were also detected in in vitro-cultured cell lines...
  24. Bannister R, Beam K. Ryanodine modification of RyR1 retrogradely affects L-type Ca(2+) channel gating in skeletal muscle. J Muscle Res Cell Motil. 2009;30:217-23 pubmed publisher
    ..Ca(2+) channel (1,4-dihydropyridine receptor; DHPR) and the type 1 ryanodine-sensitive Ca(2+) release channel (RyR1) of the sarcoplasmic reticulum (SR). In the case of "orthograde signalling" (i.e...
  25. 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...
  26. Avila G, O Connell K, Dirksen R. The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. J Gen Physiol. 2003;121:277-86 pubmed
    Human central core disease (CCD) is caused by mutations/deletions in the gene that encodes the skeletal muscle ryanodine receptor (RyR1)...
  27. Durham W, Aracena Parks P, Long C, Rossi A, Goonasekera S, Boncompagni S, et al. RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell. 2008;133:53-65 pubmed publisher
    Mice with a malignant hyperthermia mutation (Y522S) in the ryanodine receptor (RyR1) display muscle contractures, rhabdomyolysis, and death in response to elevated environmental temperatures...
  28. Nakai J, Dirksen R, Nguyen H, Pessah I, Beam K, Allen P. Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor. Nature. 1996;380:72-5 pubmed
    ..The skeletal isoform of the ryanodine receptor (RyR-1) functions as the Ca2+-release channel and the dihydropyridine receptor (DHPR) functions as the voltage sensor ..
  29. Fleig A, Takeshima H, Penner R. Absence of Ca2+ current facilitation in skeletal muscle of transgenic mice lacking the type 1 ryanodine receptor. J Physiol. 1996;496 ( Pt 2):339-45 pubmed
    ..skeletal myoballs cultured from wild-type and transgenic mice expressing a null mutation of the ryanodine receptor (RyR) type 1 (dyspedic myoballs). 2...
  30. Lyfenko A, Dirksen R. Differential dependence of store-operated and excitation-coupled Ca2+ entry in skeletal muscle on STIM1 and Orai1. J Physiol. 2008;586:4815-24 pubmed publisher
    ..These results are the first to demonstrate that SOCE in skeletal muscle requires both STIM1 and Orai1 and that SOCE and ECCE represent two distinct molecular entities. ..
  31. Bertocchini F, Ovitt C, Conti A, Barone V, Scholer H, Bottinelli R, et al. Requirement for the ryanodine receptor type 3 for efficient contraction in neonatal skeletal muscles. EMBO J. 1997;16:6956-63 pubmed
    The skeletal isoform of Ca2+ release channel, RyR1, plays a central role in activation of skeletal muscle contraction...
  32. Avila G, Lee E, Perez C, Allen P, Dirksen R. FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes. J Biol Chem. 2003;278:22600-8 pubmed
    The skeletal muscle sarcoplasmic reticulum (SR) Ca2+ release channel or ryanodine receptor (RyR1) binds four molecules of FKBP12, and the interaction of FKBP12 with RyR1 regulates both unitary and coupled gating of the channel...
  33. Ikemoto T, Komazaki S, Takeshima H, Nishi M, Noda T, Iino M, et al. Functional and morphological features of skeletal muscle from mutant mice lacking both type 1 and type 3 ryanodine receptors. J Physiol. 1997;501 ( Pt 2):305-12 pubmed
    1. We generated mice with targeted disruptions in the genes for both ryanodine receptor type 1 (RyR-1) and type 3 (RyR-3) to study the functional roles of RyR subtypes in skeletal muscle. 2...
  34. Bennett D, Cheek T, Berridge M, De Smedt H, Parys J, Missiaen L, et al. Expression and function of ryanodine receptors in nonexcitable cells. J Biol Chem. 1996;271:6356-62 pubmed
    ..These studies show that ryanodine receptors are expressed in some nonexcitable cell types and furthermore suggest that the ryanodine receptors may be involved in a subtle regulation of intracellular Ca2+ responses. ..
  35. Amador F, Stathopulos P, Enomoto M, Ikura M. Ryanodine receptor calcium release channels: lessons from structure-function studies. FEBS J. 2013;280:5456-70 pubmed publisher
    ..Many of these mutations can now be mapped onto the high resolution structures of individual RyR domains and on full-length tetrameric cryo-electron microscopy structures...
  36. Araujo D, Anderson A, Berto S, Runnels W, Harper M, Ammanuel S, et al. FoxP1 orchestration of ASD-relevant signaling pathways in the striatum. Genes Dev. 2015;29:2081-96 pubmed publisher
    ..These data support an integral role for FoxP1 in regulating signaling pathways vulnerable in autism and the specific regulation of striatal pathways important for vocal communication. ..
  37. Kurokawa K, Mizuno K, Ohkuma S. Dopamine D1 receptor signaling system regulates ryanodine receptor expression in ethanol physical dependence. Alcohol Clin Exp Res. 2013;37:771-83 pubmed publisher
    ..In this study, we investigated the role and the regulatory mechanisms of RyR expression under continuous exposure of mice to ethanol (EtOH) vapor for 9 days...
  38. MacLennan D, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk R, et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature. 1990;343:559-61 pubmed
    ..receptor (the Ca2(+)-release channel of the sarcoplasmic reticulum) and mapped the ryanodine receptor gene (RYR) to region q13.1 of human chromosome 19 (ref...
  39. Otsu K, Khanna V, Archibald A, MacLennan D. Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. Genomics. 1991;11:744-50 pubmed
    ..the British Landrace breed revealed the same substitution of T for C at nucleotide 1843 in the ryanodine receptor (RYR1) gene that was previously shown to be correlated with MG in five Canadian swine breeds...
  40. Tiso N, Stephan D, Nava A, Bagattin A, Devaney J, Stanchi F, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001;10:189-94 pubmed
    ..RyR2 is the cardiac counterpart of RyR1, the skeletal muscle ryanodine receptor, involved in malignant hyperthermia (MH) susceptibility and in central core disease (CCD)...
  41. Shin D, Pan Z, Bandyopadhyay A, Bhat M, Kim D, Ma J. Ca(2+)-dependent interaction between FKBP12 and calcineurin regulates activity of the Ca(2+) release channel in skeletal muscle. Biophys J. 2002;83:2539-49 pubmed
    ..Here we examined the physical and functional interactions between calcineurin and ryanodine receptor (RyR) in a C2C12 cell line derived from mouse skeletal muscle...
  42. Vukcevic M, Spagnoli G, Iezzi G, Zorzato F, Treves S. Ryanodine receptor activation by Ca v 1.2 is involved in dendritic cell major histocompatibility complex class II surface expression. J Biol Chem. 2008;283:34913-22 pubmed publisher
    Dendritic cells express the skeletal muscle ryanodine receptor (RyR1), yet little is known concerning its physiological role and activation mechanism. Here we show that dendritic cells also express the Ca(v)1...
  43. Hanson M, Wilde J, Moreno R, Minic A, Niswander L. Potassium dependent rescue of a myopathy with core-like structures in mouse. elife. 2015;4: pubmed publisher
    Myopathies decrease muscle functionality. Mutations in ryanodine receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures in the muscle fiber...
  44. Kaya L, Meissner B, Riedl M, Muik M, Schwarzer C, Ferraguti F, et al. Direct association of the reticulon protein RTN1A with the ryanodine receptor 2 in neurons. Biochim Biophys Acta. 2013;1833:1421-33 pubmed publisher
    ..Using a nonbiased approach involving GST pull-downs and MS analysis, we identified the intracellular calcium release channel ryanodine receptor 2 (RyR2) as a direct binding partner of RTN1A...
  45. Mickelson J, Louis C. Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects. Physiol Rev. 1996;76:537-92 pubmed
    ..In porcine MH, these studies identified the skeletal muscle sarcoplasmic reticulum Ca2+ release channel gene (RYR1) as the site of the defect...
  46. Papineni R, O Connell K, Zhang H, Dirksen R, Hamilton S. Suramin interacts with the calmodulin binding site on the ryanodine receptor, RYR1. J Biol Chem. 2002;277:49167-74 pubmed
    Apocalmodulin and Ca(2+) calmodulin bind to overlapping sites on the ryanodine receptor skeletal form, RYR1, but have opposite functional effects on channel activity...
  47. 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...
  48. Li X, Zheng Y, Rathore R, Ma J, Takeshima H, Wang Y. Genetic evidence for functional role of ryanodine receptor 1 in pulmonary artery smooth muscle cells. Pflugers Arch. 2009;457:771-83 pubmed publisher
    b>Ryanodine receptor 1 (RyR1) is well-known to be expressed in systemic and pulmonary vascular smooth muscle cells (SMCs); however, its functional roles remain largely unknown...
  49. Stolk M, Leon Ponte M, Merrill M, Ahern G, O Connell P. IP3Rs are sufficient for dendritic cell Ca2+ signaling in the absence of RyR1. J Leukoc Biol. 2006;80:651-8 pubmed
    Calcium (Ca(2+)) signaling plays a pivotal role in the function of dendritic cells (DC). The Type 1 ryanodine receptor (RyR), a major intracellular Ca(2+) channel, is highly expressed in immature DC...
  50. Marks A. Intracellular calcium-release channels: regulators of cell life and death. Am J Physiol. 1997;272:H597-605 pubmed
    ..Three forms of RyR have been identified: RyR1, expressed predominantly in skeletal muscle; RyR2, expressed predominantly in cardiac muscle; and RyR3, expressed ..
  51. Pisaniello A, Serra C, Rossi D, Vivarelli E, Sorrentino V, Molinaro M, et al. The block of ryanodine receptors selectively inhibits fetal myoblast differentiation. J Cell Sci. 2003;116:1589-97 pubmed
  52. Swift F, Franzini Armstrong C, Øyehaug L, Enger U, Andersson K, Christensen G, et al. Extreme sarcoplasmic reticulum volume loss and compensatory T-tubule remodeling after Serca2 knockout. Proc Natl Acad Sci U S A. 2012;109:3997-4001 pubmed publisher
    ..T-tubule proliferation occurs without loss of the original ordered transverse orientation and thus constitutes the basis for compensation of the declining SR function without structural disarrangement...
  53. Chen F, Liu Y, Sugiura Y, Allen P, Gregg R, Lin W. Neuromuscular synaptic patterning requires the function of skeletal muscle dihydropyridine receptors. Nat Neurosci. 2011;14:570-7 pubmed publisher
    ..Our findings indicate that the skeletal muscle DHPR retrogradely regulates the patterning and formation of the NMJ. ..
  54. Kramerova I, Kudryashova E, Wu B, Ottenheijm C, Granzier H, Spencer M. Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle. Hum Mol Genet. 2008;17:3271-80 pubmed publisher
    ..aldolase and CAPN3 are present in the triad-enriched fraction and are able to interact with ryanodine receptors (RyR) that form major calcium release channels...
  55. DiFranco M, Tran P, Quiñonez M, Vergara J. Functional expression of transgenic 1sDHPR channels in adult mammalian skeletal muscle fibres. J Physiol. 2011;589:1421-42 pubmed publisher
    ..of transgenic variants of the ?1sDHPR leads to the replacement of native channels interacting with the ryanodine receptor 1 (RyR1), thus demonstrating the feasibility of molecular remodelling of the triads in adult skeletal muscle ..
  56. Tjondrokoesoemo A, Li N, Lin P, Pan Z, Ferrante C, Shirokova N, et al. Type 1 inositol (1,4,5)-trisphosphate receptor activates ryanodine receptor 1 to mediate calcium spark signaling in adult mammalian skeletal muscle. J Biol Chem. 2013;288:2103-9 pubmed publisher
    ..Our data indicate that membrane-delimited signaling involving cross-talk between IP(3)R1 and RyR1 contributes to Ca(2+) spark activation in skeletal muscle.
  57. Croisier H, Tan X, Chen J, Sneyd J, Sanderson M, Brook B. Ryanodine receptor sensitization results in abnormal calcium signaling in airway smooth muscle cells. Am J Respir Cell Mol Biol. 2015;53:703-11 pubmed publisher
    ..We investigate the implications of RyR sensitization on Ca(2+) dynamics in ASMC using a combination of mathematical modeling and experiments with mouse ..
  58. Lueck J, Mankodi A, Swanson M, Thornton C, Dirksen R. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J Gen Physiol. 2007;129:79-94 pubmed
  59. Andersson D, Betzenhauser M, Reiken S, Umanskaya A, Shiomi T, Marks A. Stress-induced increase in skeletal muscle force requires protein kinase A phosphorylation of the ryanodine receptor. J Physiol. 2012;590:6381-7 pubmed publisher
    ..single serine residue (S2844) in the sarcoplasmic reticulum (SR) Ca(2+) release channel/ryanodine receptor type 1 (RyR1) by protein kinase A (PKA) is critical for skeletal muscle inotropy...
  60. Eltit J, Ding X, Pessah I, Allen P, Lopez J. Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia. FASEB J. 2013;27:991-1000 pubmed publisher
    ..MH) susceptibility has been attributed to a leaky sarcoplasmic reticulum (SR) caused by missense mutations in RYR1 or CACNA1S, and the MH crisis has been attributed solely to massive self-sustaining release of Ca(2+) from SR ..
  61. Prosser B, Wright N, Hernández Ochoa E, Varney K, Liu Y, Olojo R, et al. S100A1 binds to the calmodulin-binding site of ryanodine receptor and modulates skeletal muscle excitation-contraction coupling. J Biol Chem. 2008;283:5046-57 pubmed
    ..This warrants further investigation into the use of S100A1 as a therapeutic target for the treatment of both cardiac and skeletal myopathies. ..
  62. Place N, Ivarsson N, Venckunas T, Neyroud D, Brazaitis M, Cheng A, et al. Ryanodine receptor fragmentation and sarcoplasmic reticulum Ca2+ leak after one session of high-intensity interval exercise. Proc Natl Acad Sci U S A. 2015;112:15492-7 pubmed publisher
    ..extensive fragmentation of the sarcoplasmic reticulum (SR) Ca(2+) release channel, the ryanodine receptor type 1 (RyR1)...
  63. Shtifman A, Paolini C, Lopez J, Allen P, Protasi F. Ca2+ influx through alpha1S DHPR may play a role in regulating Ca2+ release from RyR1 in skeletal muscle. Am J Physiol Cell Physiol. 2004;286:C73-8 pubmed
    ..showed expression of both alpha1S dihydropyridine receptors (DHPRs) and ryanodine-sensitive Ca2+-release channel 1 (RyR1), the two key proteins in skeletal excitation-contraction (E-C) coupling...
  64. Futatsugi A, Kuwajima G, Mikoshiba K. Tissue-specific and developmentally regulated alternative splicing in mouse skeletal muscle ryanodine receptor mRNA. Biochem J. 1995;305 ( Pt 2):373-8 pubmed
    ..By PCR analysis, we identified two alternatively spliced regions in mRNA of the mouse skeletal muscle ryanodine receptor (sRyR)...
  65. Cavanna J, Greenfield A, Johnson K, Marks A, Nadal Ginard B, Brown S. Establishment of the mouse chromosome 7 region with homology to the myotonic dystrophy region of human chromosome 19q. Genomics. 1990;7:12-8 pubmed
    ..In addition, we have mapped the muscle ryanodine receptor gene (Ryr) to mouse chromosome 7 and demonstrated its close linkage to the Atpa-2, Tgfb-1, and Ckmm cluster of genes...
  66. Olojo R, Hernández Ochoa E, Ikemoto N, Schneider M. Effects of conformational peptide probe DP4 on bidirectional signaling between DHPR and RyR1 calcium channels in voltage-clamped skeletal muscle fibers. Biophys J. 2011;100:2367-77 pubmed publisher
    ..coupling involves the activation of dihydropyridine receptors (DHPR) and type-1 ryanodine receptors (RyR1) to produce depolarization-dependent sarcoplasmic reticulum Ca²? release via orthograde signaling...
  67. Huang W, Xing W, Ryskamp D, Punzo C, Krizaj D. Localization and phenotype-specific expression of ryanodine calcium release channels in C57BL6 and DBA/2J mouse strains. Exp Eye Res. 2011;93:700-9 pubmed publisher
    ..RT-PCR analysis showed 6-8 -fold upregulation RyR1, but not RyR2 or RyR3 transcripts, in D2 retinas...
  68. Savoia C, Liu Q, Zheng Y, Yadav V, Zhang Z, Wu L, et al. Calcineurin upregulates local Ca(2+) signaling through ryanodine receptor-1 in airway smooth muscle cells. Am J Physiol Lung Cell Mol Physiol. 2014;307:L781-90 pubmed publisher
    ..Neither CAIP nor nickel produces an effect on Ca(2+) sparks in type 1 ryanodine receptor heterozygous knockout (RyR1(-/+)) mouse ASMCs...
  69. Kimura T, Nakamori M, Lueck J, Pouliquin P, Aoike F, Fujimura H, et al. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet. 2005;14:2189-200 pubmed
    ..we investigated the alternative splicing of mRNAs of two major proteins of the sarcoplasmic reticulum, the ryanodine receptor 1 (RyR1) and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase (SERCA) 1 or 2...
  70. Zvaritch E, MacLennan D. Muscle spindles exhibit core lesions and extensive degeneration of intrafusal fibers in the Ryr1(I4895T/wt) mouse model of core myopathy. Biochem Biophys Res Commun. 2015;460:34-9 pubmed publisher
    Muscle spindles from the hind limb muscles of adult Ryr1(I4895T/wt) (IT/+) mice exhibit severe structural abnormalities. Up to 85% of the spindles are separated from skeletal muscle fascicles by a thick layer of connective tissue...
  71. Manno C, Figueroa L, Royer L, Pouvreau S, Lee C, Volpe P, et al. Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia. J Physiol. 2013;591:4439-57 pubmed publisher
    Malignant hyperthermia (MH) is linked to mutations in the type 1 ryanodine receptor, RyR1, the Ca2+ channel of the sarcoplasmic reticulum (SR) of skeletal muscle...