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Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.

Lefebvre R, Legrand C, González-Rodríguez E, Groom L, Dirksen RT, Jacquemond V.

J Physiol. 2011 Nov 15;589(Pt 22):5361-82. doi: 10.1113/jphysiol.2011.216408. Epub 2011 Oct 3.


Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.

Lefebvre R, Legrand C, Groom L, Dirksen RT, Jacquemond V.

PLoS One. 2013;8(1):e54042. doi: 10.1371/journal.pone.0054042. Epub 2013 Jan 7.


Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.

Vega AV, Ramos-Mondragón R, Calderón-Rivera A, Zarain-Herzberg A, Avila G.

J Physiol. 2011 Oct 1;589(Pt 19):4649-69. doi: 10.1113/jphysiol.2011.210765. Epub 2011 Aug 8.


Spontaneous and voltage-activated Ca2+ release in adult mouse skeletal muscle fibres expressing the type 3 ryanodine receptor.

Legrand C, Giacomello E, Berthier C, Allard B, Sorrentino V, Jacquemond V.

J Physiol. 2008 Jan 15;586(2):441-57. Epub 2007 Nov 15.


Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.

Avila G, O'Brien JJ, Dirksen RT.

Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):4215-20.


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.


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. Epub 2005 Feb 2.


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.


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;79(3):420-31. doi: 10.1124/mol.110.067959. Epub 2010 Dec 14.


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;292(5):C1591-8. Epub 2006 Dec 20.


A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice.

Andronache Z, Hamilton SL, Dirksen RT, Melzer W.

Proc Natl Acad Sci U S A. 2009 Mar 17;106(11):4531-6. doi: 10.1073/pnas.0812661106. Epub 2009 Feb 25.


[Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex].

Lunardi J, Monnier N.

Rev Neurol (Paris). 2004 May;160(5 Pt 2):S70-7. Review. French.


Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ.

Hum Mutat. 2000;15(5):410-7. Review.


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;135(6):629-40. doi: 10.1085/jgp.200910329. Epub 2010 May 17.


Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP.

Diaz-Sylvester PL, Porta M, Copello JA.

Am J Physiol Cell Physiol. 2008 Apr;294(4):C1103-12. doi: 10.1152/ajpcell.90642.2007. Epub 2008 Feb 27.

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