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Results: 1 to 20 of 113

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. Epub 2010 Oct 26.

PMID:
20978128
[PubMed - indexed for MEDLINE]
Free PMC Article
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. Epub 2010 Dec 14.

PMID:
21156754
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
Free Article
4.

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. Epub 2011 Nov 30.

PMID:
22131268
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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. Epub 2010 May 17.

PMID:
20479110
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

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. Epub 2012 Nov 16.

PMID:
23159934
[PubMed - indexed for MEDLINE]
Free PMC Article
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. Epub 2011 Dec 2.

PMID:
22139840
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.

Yang T, Ta TA, Pessah IN, Allen PD.

J Biol Chem. 2003 Jul 11;278(28):25722-30. Epub 2003 May 5.

PMID:
12732639
[PubMed - indexed for MEDLINE]
Free Article
11.

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.

PMID:
17182726
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

PMID:
20479108
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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. Epub 2005 Nov 11.

PMID:
16284304
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.

Girard T, Treves S, Censier K, Mueller CR, Zorzato F, Urwyler A.

Br J Anaesth. 2002 Oct;89(4):571-9.

PMID:
12393358
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PMID:
19246389
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
15689621
[PubMed - indexed for MEDLINE]
Free Article
20.

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. Epub 2012 Apr 30.

PMID:
22547813
[PubMed - indexed for MEDLINE]
Free PMC Article

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