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Items: 1 to 20 of 101

1.

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 Jun 5. doi: 10.1152/ajpcell.00052.2019. [Epub ahead of print]

PMID:
31166712
2.

Ca2+-mediated activation of the skeletal-muscle ryanodine receptor ion channel.

Xu L, Chirasani VR, Carter JS, Pasek DA, Dokholyan NV, Yamaguchi N, Meissner G.

J Biol Chem. 2018 Dec 14;293(50):19501-19509. doi: 10.1074/jbc.RA118.004453. Epub 2018 Oct 19.

PMID:
30341173
3.

Channel Gating Dependence on Pore Lining Helix Glycine Residues in Skeletal Muscle Ryanodine Receptor.

Mei Y, Xu L, Mowrey DD, Mendez Giraldez R, Wang Y, Pasek DA, Dokholyan NV, Meissner G.

J Biol Chem. 2015 Jul 10;290(28):17535-45. doi: 10.1074/jbc.M115.659672. Epub 2015 May 21.

5.

G4941K substitution in the pore-lining S6 helix of the skeletal muscle ryanodine receptor increases RyR1 sensitivity to cytosolic and luminal Ca2.

Xu L, Mowrey DD, Chirasani VR, Wang Y, Pasek DA, Dokholyan NV, Meissner G.

J Biol Chem. 2018 Feb 9;293(6):2015-2028. doi: 10.1074/jbc.M117.803247. Epub 2017 Dec 18.

6.

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 7;474(16):2749-2761. doi: 10.1042/BCJ20170282.

8.

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 1;311(5):C749-C757. doi: 10.1152/ajpcell.00134.2016. Epub 2016 Aug 24.

9.
11.

Dampened activity of ryanodine receptor channels in mutant skeletal muscle lacking TRIC-A.

El-Ajouz S, Venturi E, Witschas K, Beech M, Wilson AD, Lindsay C, Eberhardt D, O'Brien F, Iida T, Nishi M, Takeshima H, Sitsapesan R.

J Physiol. 2017 Jul 15;595(14):4769-4784. doi: 10.1113/JP273550. Epub 2017 May 23.

12.

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;37(11):1231-1241. doi: 10.1002/humu.23072. Epub 2016 Sep 19.

PMID:
27586648
13.

Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.

Xu L, Wang Y, Yamaguchi N, Pasek DA, Meissner G.

J Biol Chem. 2008 Mar 7;283(10):6321-9. doi: 10.1074/jbc.M707353200. Epub 2008 Jan 1.

14.

Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.

Loy RE, Orynbayev M, Xu L, Andronache Z, Apostol S, Zvaritch E, MacLennan DH, Meissner G, Melzer W, Dirksen RT.

J Gen Physiol. 2011 Jan;137(1):43-57. doi: 10.1085/jgp.201010523. Epub 2010 Dec 13.

15.
16.

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.

Hum Mol Genet. 2000 Nov 1;9(18):2599-608.

PMID:
11063719
17.

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 1;351(Pt 1):57-65.

18.

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):35571-7. doi: 10.1074/jbc.M111.255240. Epub 2011 Aug 23.

19.
20.

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;66:62-70. doi: 10.1016/j.ceca.2017.05.013. Epub 2017 Jun 6.

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