A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
about
Central core diseaseMuscle channelopathies and critical points in functional and genetic studies.Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden deathCritical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseCoordinated movement of cytoplasmic and transmembrane domains of RyR1 upon gatingCalcium Dyshomeostasis in Tubular Aggregate MyopathyInvolvement 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 myotubesAn Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse lineWhat we don't know about the structure of ryanodine receptor calcium release channels.Luminal loop of the ryanodine receptor: a pore-forming segment?Loss of inositol 1,4,5-trisphosphate receptors from bile duct epithelia is a common event in cholestasis.Genetics and pathogenesis of malignant hyperthermia.Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.Ryanodine receptor mutations in malignant hyperthermia and central core disease.Ryanodine receptor channelopathies.Inositol trisphosphate receptor Ca2+ release channels.Calcium signaling: a tale for all seasonsSilent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportRyanodine 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.Isoform-dependent formation of heteromeric Ca2+ release channels (ryanodine receptors).Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance.Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.Negatively charged amino acids within the intraluminal loop of ryanodine receptor are involved in the interaction with triadin.Malignant hyperthermia and excitation-contraction coupling.The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.An exome sequencing strategy to diagnose lethal autosomal recessive disorders.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 mutantsDrosophila calmodulin mutants with specific defects in the musculature or in the nervous system.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.Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype.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 receptorLocation of the permeation pathway in the recombinant type 1 inositol 1,4,5-trisphosphate receptor.A calcium channel mutant mouse model of hypokalemic periodic paralysis
P2860
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P2860
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh
1999年學術文章
@zh-hant
name
A mutation in the transmembran ...... d severe central core disease.
@ast
A mutation in the transmembran ...... d severe central core disease.
@en
type
label
A mutation in the transmembran ...... d severe central core disease.
@ast
A mutation in the transmembran ...... d severe central core disease.
@en
prefLabel
A mutation in the transmembran ...... d severe central core disease.
@ast
A mutation in the transmembran ...... d severe central core disease.
@en
P2093
P2860
P356
P1476
A mutation in the transmembran ...... d severe central core disease.
@en
P2093
Heffron JJ
MacLennan DH
McCarthy TV
P2860
P304
P356
10.1073/PNAS.96.7.4164
P407
P577
1999-03-01T00:00:00Z