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540 related items for PubMed ID: 27558158

  • 1. Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.
    Gomez AC, Holford TW, Yamaguchi N.
    Am J Physiol Cell Physiol; 2016 Nov 01; 311(5):C749-C757. PubMed ID: 27558158
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  • 2. Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.
    Chirasani VR, Elferdink M, Kral M, Carter JS, Heitmann S, Meissner G, Yamaguchi N.
    J Biol Chem; 2024 Feb 01; 300(2):105606. PubMed ID: 38159862
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  • 4. Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
    Chen W, Koop A, Liu Y, Guo W, Wei J, Wang R, MacLennan DH, Dirksen RT, Chen SRW.
    Biochem J; 2017 Aug 07; 474(16):2749-2761. PubMed ID: 28687594
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  • 5. Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
    Murayama T, Kurebayashi N, Ogawa H, Yamazawa T, Oyamada H, Suzuki J, Kanemaru K, Oguchi K, Iino M, Sakurai T.
    Hum Mutat; 2016 Nov 07; 37(11):1231-1241. PubMed ID: 27586648
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  • 6. Two regions of the ryanodine receptor calcium channel are involved in Ca(2+)-dependent inactivation.
    Gomez AC, Yamaguchi N.
    Biochemistry; 2014 Mar 04; 53(8):1373-9. PubMed ID: 24521037
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  • 7. Two EF-hand motifs in ryanodine receptor calcium release channels contribute to isoform-specific regulation by calmodulin.
    Xu L, Gomez AC, Pasek DA, Meissner G, Yamaguchi N.
    Cell Calcium; 2017 Sep 04; 66():62-70. PubMed ID: 28807150
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  • 8. Ca(2+) inactivation sites are located in the COOH-terminal quarter of recombinant rabbit skeletal muscle Ca(2+) release channels (ryanodine receptors).
    Du GG, MacLennan DH.
    J Biol Chem; 1999 Sep 10; 274(37):26120-6. PubMed ID: 10473562
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  • 9. A central core disease mutation in the Ca2+-binding site of skeletal muscle ryanodine receptor impairs single-channel regulation.
    Chirasani VR, Xu L, Addis HG, Pasek DA, Dokholyan NV, Meissner G, Yamaguchi N.
    Am J Physiol Cell Physiol; 2019 Aug 01; 317(2):C358-C365. PubMed ID: 31166712
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  • 10. Characterization of a calcium-regulation domain of the skeletal-muscle ryanodine receptor.
    Hayek SM, Zhu X, Bhat MB, Zhao J, Takeshima H, Valdivia HH, Ma J.
    Biochem J; 2000 Oct 01; 351(Pt 1):57-65. PubMed ID: 10998347
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  • 11. Role of amino-terminal half of the S4-S5 linker in type 1 ryanodine receptor (RyR1) channel gating.
    Murayama T, Kurebayashi N, Oba T, Oyamada H, Oguchi K, Sakurai T, Ogawa Y.
    J Biol Chem; 2011 Oct 14; 286(41):35571-35577. PubMed ID: 21862589
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  • 15. Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice.
    Feng W, Barrientos GC, Cherednichenko G, Yang T, Padilla IT, Truong K, Allen PD, Lopez JR, Pessah IN.
    Mol Pharmacol; 2011 Mar 14; 79(3):420-31. PubMed ID: 21156754
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  • 16. Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations.
    Brini M, Manni S, Pierobon N, Du GG, Sharma P, MacLennan DH, Carafoli E.
    J Biol Chem; 2005 Apr 15; 280(15):15380-9. PubMed ID: 15689621
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  • 17. Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle.
    Barrientos GC, Feng W, Truong K, Matthaei KI, Yang T, Allen PD, Lopez JR, Pessah IN.
    J Biol Chem; 2012 Jan 20; 287(4):2863-76. PubMed ID: 22139840
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  • 18. Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR.
    Yang T, Esteve E, Pessah IN, Molinski TF, Allen PD, López JR.
    Am J Physiol Cell Physiol; 2007 May 20; 292(5):C1591-8. PubMed ID: 17182726
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  • 19. Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.
    Parker R, Schiemann AH, Langton E, Bulger T, Pollock N, Bjorksten A, Gillies R, Hutchinson D, Roxburgh R, Stowell KM.
    J Neuromuscul Dis; 2017 May 20; 4(2):147-158. PubMed ID: 28527222
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  • 20. A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels.
    Bannister RA, Estève E, Eltit JM, Pessah IN, Allen PD, López JR, Beam KG.
    J Gen Physiol; 2010 Jun 20; 135(6):629-40. PubMed ID: 20479108
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