Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.
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Malignant hyperthermiaCritical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseMalignant hyperthermia: a reviewDivergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal RegionCongenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3.The role of CACNA1S in predisposition to malignant hyperthermiaMyoplasmic resting Ca2+ regulation by ryanodine receptors is under the control of a novel Ca2+-binding region of the receptor.RyR1-mediated Ca2+ leak and Ca2+ entry determine resting intracellular Ca2+ in skeletal myotubes.Ryanodine receptor channelopathies.A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channelsDistinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptorBasal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leakMalignant hyperthermia: a pharmacogenetic disorder.Effects of conformational peptide probe DP4 on bidirectional signaling between DHPR and RyR1 calcium channels in voltage-clamped skeletal muscle fibers.Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathiesGene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle.Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels.Alpha2delta1 dihydropyridine receptor subunit is a critical element for excitation-coupled calcium entry but not for formation of tetrads in skeletal myotubesNonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia.Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP.A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene.Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.Role of amino-terminal half of the S4-S5 linker in type 1 ryanodine receptor (RyR1) channel gating.A guide to the 3D structure of the ryanodine receptor type 1 by cryoEM.Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia.Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR.Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ releaseMalignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable areaPostulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia.Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95).Antibody probe study of Ca2+ channel regulation by interdomain interaction within the ryanodine receptor.Enhanced response to caffeine and 4-chloro-m-cresol in malignant hyperthermia-susceptible muscle is related in part to chronically elevated resting [Ca2+]i.Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations.Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.
P2860
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P2860
Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Functional defects in six ryan ...... citation-contraction coupling.
@ast
Functional defects in six ryan ...... citation-contraction coupling.
@en
Functional defects in six ryanodine receptor isoform-1
@nl
type
label
Functional defects in six ryan ...... citation-contraction coupling.
@ast
Functional defects in six ryan ...... citation-contraction coupling.
@en
Functional defects in six ryanodine receptor isoform-1
@nl
prefLabel
Functional defects in six ryan ...... citation-contraction coupling.
@ast
Functional defects in six ryan ...... citation-contraction coupling.
@en
Functional defects in six ryanodine receptor isoform-1
@nl
P2093
P2860
P356
P1476
Functional defects in six ryan ...... citation-contraction coupling.
@en
P2093
Isaac N Pessah
Paul D Allen
Tianzhong Yang
Tram Anh Ta
P2860
P304
25722-25730
P356
10.1074/JBC.M302165200
P407
P577
2003-05-05T00:00:00Z