Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.
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Central core diseaseDivergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal RegionAnesthetic- and heat-induced sudden death in calsequestrin-1-knockout miceCharacterization and temporal development of cores in a mouse model of malignant hyperthermiaCalcium Dynamics Mediated by the Endoplasmic/Sarcoplasmic Reticulum and Related Diseases.Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.Ryanodine receptor channelopathies.A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channelsThe I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutantsBiological physics in México: Review and new challenges.The elusive role of the SPRY2 domain in RyR1.Special article: Future directions in malignant hyperthermia research and patient careOxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible miceSimulation of Ca2+ movements within the sarcomere of fast-twitch mouse fibers stimulated by action potentials.Stressed out: the skeletal muscle ryanodine receptor as a target of stressA calcium channel mutant mouse model of hypokalemic periodic paralysisNovel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.Ryanodine receptor-mediated arrhythmias and sudden cardiac death.Checking your SOCCs and feet: the molecular mechanisms of Ca2+ entry in skeletal muscle.Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling.Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results.Coupling of excitation to Ca2+ release is modulated by dysferlin.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.Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.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.Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia.Excitation-Contraction Coupling Alterations in Myopathies.Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia.Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.
P2860
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P2860
Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.
description
2004 nî lūn-bûn
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2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@ast
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@en
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@nl
type
label
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@ast
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@en
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@nl
prefLabel
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@ast
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@en
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@nl
P2860
P1433
P1476
Distinct effects on Ca2+ handl ...... ore disease mutations in RyR1.
@en
P2093
Guillermo Avila
Robert T Dirksen
P2860
P304
P356
10.1529/BIOPHYSJ.104.048447
P407
P577
2004-09-03T00:00:00Z