Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.
about
Central core diseaseMuscle channelopathies and critical points in functional and genetic studies.Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseCalcium Dyshomeostasis in Tubular Aggregate MyopathyDivergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal RegionASK1 associates with troponin T and induces troponin T phosphorylation and contractile dysfunction in cardiomyocytesInvolvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardiaFKBP12 modulation of the binding of the skeletal ryanodine receptor onto the II-III loop of the dihydropyridine receptor.Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubesAn Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse lineDiagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.Ryanodine receptor channelopathies.Distinct 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.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 mutantsOxidative stress and successful antioxidant treatment in models of RYR1-related myopathyCardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels.Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction coupling.The 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 receptorCalmodulin binding to the 3614-3643 region of RyR1 is not essential for excitation-contraction coupling in skeletal myotubesNovel 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.Ryanodine receptor-mediated arrhythmias and sudden cardiac death.Murine Fig4 is dispensable for muscle development but required for muscle function.Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsFunctional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.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.Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations.Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ releaseFunctional characterization of mutants in the predicted pore region of the rabbit cardiac muscle Ca(2+) release channel (ryanodine receptor isoform 2).Excitation-Contraction Coupling Alterations in Myopathies.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).State of the art in hereditary muscle channelopathies.A probable role of dihydropyridine receptors in repression of Ca2+ sparks demonstrated in cultured mammalian muscle.Reconstitution of local Ca2+ signaling between cardiac L-type Ca2+ channels and ryanodine receptors: insights into regulation by FKBP12.6.Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
P2860
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P2860
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Excitation--contraction uncoup ...... ion in the ryanodine receptor.
@ast
Excitation--contraction uncoup ...... ion in the ryanodine receptor.
@en
type
label
Excitation--contraction uncoup ...... ion in the ryanodine receptor.
@ast
Excitation--contraction uncoup ...... ion in the ryanodine receptor.
@en
prefLabel
Excitation--contraction uncoup ...... ion in the ryanodine receptor.
@ast
Excitation--contraction uncoup ...... ion in the ryanodine receptor.
@en
P2093
P2860
P356
P1476
Excitation--contraction uncoup ...... ion in the ryanodine receptor.
@en
P2093
P2860
P304
P356
10.1073/PNAS.071048198
P407
P577
2001-03-01T00:00:00Z