The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia
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Arg(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)Single-channel properties of the recombinant skeletal muscle Ca2+ release channel (ryanodine receptor).Ryanodine receptor channelopathies.Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP.Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia.Voltage-dependent calcium release in human malignant hyperthermia muscle fibers.Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ releasePharmacological distinction between dantrolene and ryanodine binding sites: evidence from normal and malignant hyperthermia-susceptible porcine skeletal muscle.Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
P2860
Q28360944-DBE4B943-C3F1-4215-97CA-7B73548FFD18Q28363303-10A7B812-113C-4078-B7B7-485DA16D2D1DQ33907572-A2FC41BB-9CBA-4173-A098-115047FB306BQ33912937-4F3F68E6-CC38-4DD4-841E-B27FC4579FBBQ36768338-A967B543-9FB0-40F6-BA64-E43332DCBD4BQ37042618-33DCB3ED-5D9A-4210-AE59-1368175A2C25Q37379287-BC8605D3-8A73-435E-8019-8E12C78C6EE9Q39978369-878FE93D-39CE-4C3D-A8FB-A8F720E0696FQ40131861-628F02B3-54C2-4601-8F7D-8FA7489B1924Q40549728-C5559961-CD89-4750-B5A5-D8F9BE37D999Q41886433-761B2315-32A0-40B4-B193-63A5522990E9Q42663988-4B0F8F50-C658-44F8-A98E-2E574C2DAE67
P2860
The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia
description
1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Journal of Biological Chemistry
@fr
artículu científicu espublizáu en 1994
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im April 1994 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1994/04/01)
@sk
vědecký článek publikovaný v roce 1994
@cs
wetenschappelijk artikel (gepubliceerd op 1994/04/01)
@nl
наукова стаття, опублікована у квітні 1994
@uk
name
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@ast
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@en
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@nl
type
label
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@ast
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@en
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@nl
prefLabel
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@ast
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@en
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@nl
P2093
P1476
The point mutation Arg615-->Cy ...... hane in malignant hyperthermia
@en
P2093
P304
P407
P577
1994-04-01T00:00:00Z