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ryanodine receptorryanodine receptor 1ryanodine receptor calcium release channelRyR2RyR3skeletal muscle ryanodine receptortype 1 ryanodine receptor

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  • RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling.
  • Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F.SourceDubowitz Neuromuscular Centre, Institute of Child Health, University College London, London, UK.
  • Human mutation.Hum Mutat.2013 Jul;34(7):986-96. doi: 10.1002/humu.22326. Epub 2013 Apr 17.
  • In skeletal muscle, excitation-contraction (EC) coupling is the process whereby the voltage-gated dihydropyridine receptor (DHPR) located on the transverse tubules activates calcium release from the sarcoplasmic reticulum by activating ryanodine receptor (RyR1) Ca(2+) channels located on the termina
  • PMID 23553787
  • Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.
  • Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H.SourceDepartment of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.
  • Neuromuscular disorders : NMD.Neuromuscul Disord.2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28.
  • Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. We sequenced RYR1 in 39 unrelated families with rhabdomyolysis
  • PMID 23628358
  • Exon skipping as a therapeutic strategy applied to a RyR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
  • Rendu J, Brocard J, Denarier E, Monnier N, Pietri-Rouxel F, Beley C, Roux-Buisson N, Gilbert-Dussardier B, Perez MJ, Romero NB, Garcia L, Lunardi J, Fauré J, Fourest-Lieuvin A, Marty I.SourceGIN, U836, La Tronche, France ; JRendu@chu-grenoble.fr.
  • Human gene therapy.Hum Gene Ther.2013 Jun 27. [Epub ahead of print]
  • Central Core Disease is a myopathy often arising from mutations in the RYR1 gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. We studied the pathological situation of a severely affected child with two recessive mutations, w
  • PMID 23805838


  • 小西賞受賞者 ダントロレンによるリアノジン受容体を分子標的とした新しい心不全・不整脈治療
  • 桝田 佳寛
  • 山口医学 = Yamaguchi medical journal 62(1), 15-19, 2013-02
  • … ventricular tachycardia:CPVT)や心不全においては,リアノジン受容体(骨格筋型:RyR1心筋型:RyR2)内のドメイン連関障害が,リアノジン受容体からのCa^2+漏出の原因と考えられている.悪性高熱症の治療薬であるダントロレンは,RyR1に結合し,RyR1内のドメイン連関障害を是正することによってRyR1からのCa^{2+}漏出を抑制する.同様に,イヌ心不全モデルやCPVT型knock-inマウスに …
  • NAID 120005246291
  • Nitric oxide-induced calcium release: activation of type 1 ryanodine receptor by endogenous nitric oxide.
  • Kakizawa Sho,Yamazawa Toshiko,Iino Masamitsu
  • Channels 7(1), 1-5, 2013-01-01
  • … NICR is evoked by neuronal activity, is dependent on S-nitrosylation of type 1 RyR (RyR1) and is involved in the induction of long-term potentiation (LTP) of cerebellar synapses. … In this addendum, we examined whether peroxynitrite, which is produced by the reaction of nitric oxide with superoxide, may also have an effect on the Ca2+ release via RyR1 and the cerebellar LTP. …
  • NAID 120005333788
  • Nitric oxide-induced calcium release via ryanodine receptors regulates neuronal function.
  • Kakizawa Sho,Yamazawa Toshiko,Chen Yili,Ito Akihiro,Murayama Takashi,Oyamada Hideto,Kurebayashi Nagomi,Sato Osamu,Watanabe Masahiko,Mori Nozomu,Oguchi Katsuji,Sakurai Takashi,Takeshima Hiroshi,Saito Nobuhito,Iino Masamitsu
  • The EMBO journal 31(2), 417-428, 2012-01-18
  • … Reversible S-nitrosylation of type 1 RyR (RyR1) triggers this Ca(2+) release. … These findings suggest that NICR via RyR1 plays a regulatory role in the physiological and pathophysiological functions of the brain. …
  • NAID 80022306239




リンク元リアノジン受容体1型」「RyR2」「RyR3」「skeletal muscle ryanodine receptor」「ryanodine receptor calcium release channel



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skeletal muscle ryanodine receptor」


ryanodine receptor 1RyR1type 1 ryanodine receptor

ryanodine receptor calcium release channel」


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