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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.


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.


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.


Ryanodine modification of RyR1 retrogradely affects L-type Ca(2+) channel gating in skeletal muscle.

Bannister RA, Beam KG.

J Muscle Res Cell Motil. 2009;30(5-6):217-23. doi: 10.1007/s10974-009-9190-0. Epub 2009 Oct 3.


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.


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.


Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.

Weiss RG, O'Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT.

Am J Physiol Cell Physiol. 2004 Oct;287(4):C1094-102. Epub 2004 Jun 16.


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.


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.


Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations.

Yang T, Allen PD, Pessah IN, Lopez JR.

J Biol Chem. 2007 Dec 28;282(52):37471-8. Epub 2007 Oct 16.


Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leak.

Eltit JM, Li H, Ward CW, Molinski T, Pessah IN, Allen PD, Lopez JR.

Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7046-51. doi: 10.1073/pnas.1018380108. Epub 2011 Apr 11.


Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling.

Cheng W, Altafaj X, Ronjat M, Coronado R.

Proc Natl Acad Sci U S A. 2005 Dec 27;102(52):19225-30. Epub 2005 Dec 15.


Ryanodine receptor type 1 (RyR1) mutations C4958S and C4961S reveal excitation-coupled calcium entry (ECCE) is independent of sarcoplasmic reticulum store depletion.

Hurne AM, O'Brien JJ, Wingrove D, Cherednichenko G, Allen PD, Beam KG, Pessah IN.

J Biol Chem. 2005 Nov 4;280(44):36994-7004. Epub 2005 Aug 24.


Malignant hyperthermia and excitation-contraction coupling.

Melzer W, Dietze B.

Acta Physiol Scand. 2001 Mar;171(3):367-78. Review.


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.


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.


JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.

Yasuda T, Delbono O, Wang ZM, Messi ML, Girard T, Urwyler A, Treves S, Zorzato F.

Hum Mutat. 2013 Jan;34(1):184-90. doi: 10.1002/humu.22209. Epub 2012 Oct 11.


Conformational coupling of DHPR and RyR1 in skeletal myotubes is influenced by long-range allosterism: evidence for a negative regulatory module.

Lee EH, Lopez JR, Li J, Protasi F, Pessah IN, Kim DH, Allen PD.

Am J Physiol Cell Physiol. 2004 Jan;286(1):C179-89. Epub 2003 Sep 17.


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