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Items: 1 to 20 of 107

1.

Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.

Giulivi C, Ross-Inta C, Omanska-Klusek A, Napoli E, Sakaguchi D, Barrientos G, Allen PD, Pessah IN.

J Biol Chem. 2011 Jan 7;286(1):99-113. doi: 10.1074/jbc.M110.153247.

2.

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.

3.

Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse.

Yang T, Riehl J, Esteve E, Matthaei KI, Goth S, Allen PD, Pessah IN, Lopez JR.

Anesthesiology. 2006 Dec;105(6):1164-75.

PMID:
17122579
4.

A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.

Estève E, Eltit JM, Bannister RA, Liu K, Pessah IN, Beam KG, Allen PD, López JR.

J Gen Physiol. 2010 Jun;135(6):619-28. doi: 10.1085/jgp.200910328.

5.

Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.

Yuen B, Boncompagni S, Feng W, Yang T, Lopez JR, Matthaei KI, Goth SR, Protasi F, Franzini-Armstrong C, Allen PD, Pessah IN.

FASEB J. 2012 Mar;26(3):1311-22. doi: 10.1096/fj.11-197582.

6.

Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia.

Eltit JM, Ding X, Pessah IN, Allen PD, Lopez JR.

FASEB J. 2013 Mar;27(3):991-1000. doi: 10.1096/fj.12-218354.

7.

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.

Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.

Hum Mutat. 2002 Aug;20(2):88-97.

PMID:
12124989
8.

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.

9.

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. doi: 10.1074/jbc.M111.307926.

12.

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.

13.

Screening for mutations in the RYR1 gene in families with malignant hyperthermia.

Muniz VP, Silva HC, Tsanaclis AM, Vainzof M.

J Mol Neurosci. 2003;21(1):35-42.

PMID:
14500992
14.

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ.

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

PMID:
10790202
15.

Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor.

Eltit JM, Bannister RA, Moua O, Altamirano F, Hopkins PM, Pessah IN, Molinski TF, López JR, Beam KG, Allen PD.

Proc Natl Acad Sci U S A. 2012 May 15;109(20):7923-8. doi: 10.1073/pnas.1119207109.

17.

Genetics of malignant hyperthermia.

Brandom BW.

ScientificWorldJournal. 2006 Dec 28;6:1722-30. Review.

18.
19.

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.

Chelu MG, Goonasekera SA, Durham WJ, Tang W, Lueck JD, Riehl J, Pessah IN, Zhang P, Bhattacharjee MB, Dirksen RT, Hamilton SL.

FASEB J. 2006 Feb;20(2):329-30.

PMID:
16284304
20.

Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility.

Roesl C, Sato K, Schiemann A, Pollock N, Stowell KM.

Cell Calcium. 2014 Sep;56(3):195-201. doi: 10.1016/j.ceca.2014.07.004.

PMID:
25086907

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