Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.
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Central core diseaseInhibition of sarcoplasmic Ca2+-ATPase increases caffeine- and halothane-induced contractures in muscle bundles of malignant hyperthermia susceptible and healthy individuals.3D Structure of the Dihydropyridine Receptor of Skeletal MusclePharmGKB summary: very important pharmacogene information for RYR1Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal RegionDysregulated ryanodine receptors mediate cellular toxicity: restoration of normal phenotype by FKBP12.6Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardiaArg(615)Cys substitution in pig skeletal ryanodine receptors increases activation of single channels by a segment of the skeletal DHPR II-III loopMutations to Gly2370, Gly2373 or Gly2375 in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+-release channel (ryanodine receptor isoform 1)Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubesIdentification of an endogenous inhibitor of the cardiac Na+/Ca2+ exchanger, phospholemmanAn Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse lineLuminal loop of the ryanodine receptor: a pore-forming segment?Genetics and pathogenesis of malignant hyperthermia.Ryanodine receptors: structure, expression, molecular details, and function in calcium release.RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.The skeletal muscle Ca2+ release channel has an oxidoreductase-like domainDistinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.The 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.The role of calcium in the activation of estrogen receptor-alpha.Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leakMalignant hyperthermia: a pharmacogenetic disorder.Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal RegionExcitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.Myocardial disease in failing hearts: defective excitation-contraction coupling.Ryanodine and IP3 receptor-mediated calcium signaling play a pivotal role in neurological infrared laser modulation.Stressed out: the skeletal muscle ryanodine receptor as a target of stressThe pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core diseaseFunctional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptorA mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia.Multi-minicore DiseaseA retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice.Ryanodine receptor-mediated arrhythmias and sudden cardiac death.Checking your SOCCs and feet: the molecular mechanisms of Ca2+ entry in skeletal muscle.Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsStore overload-induced Ca2+ release as a triggering mechanism for CPVT and MH episodes caused by mutations in RYR and CASQ genes.
P2860
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P2860
Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Measurement of resting cytosol ...... mutant Ca2+ release channels.
@en
type
label
Measurement of resting cytosol ...... mutant Ca2+ release channels.
@en
prefLabel
Measurement of resting cytosol ...... mutant Ca2+ release channels.
@en
P2860
P356
P1476
Measurement of resting cytosol ...... e mutant Ca2+ release channels
@en
P2093
P2860
P304
P356
10.1074/JBC.274.2.693
P407
P577
1999-01-01T00:00:00Z