Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
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Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transportersThe impact of human hyperekplexia mutations on glycine receptor structure and functionA MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypesThe lidocaine metabolite N-ethylglycine has antinociceptive effects in experimental inflammatory and neuropathic pain.Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stabilityMolecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.The alanine-serine-cysteine-1 (Asc-1) transporter controls glycine levels in the brain and is required for glycinergic inhibitory transmission.Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.The glycinergic system in human startle disease: a genetic screening approach.Classification of Involuntary Movements in Dogs: Myoclonus and MyotoniaParallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breedCalnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2).Microarray gene expression profiling of neural tissues in bovine spastic paresisThe specification of glycinergic neurons and the role of glycinergic transmission in development.Calcium dependent interaction of calmodulin with the GlyT1 C-terminus.Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid GlycineThe novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.Glycine transporter dimers: evidence for occurrence in the plasma membrane.A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.Subcellular localization of the neuronal glycine transporter GLYT2 in brainstem.The neuronal glycine transporter GLYT2 associates with membrane rafts: functional modulation by lipid environment.Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity.SLC6 Transporter Folding Diseases and Pharmacochaperoning.Defective SLC6A5 does not cotransport Gly; Cl-; Na+ from extracellular region to cytosol
P2860
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P2860
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
description
2006 nî lūn-bûn
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2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
@ast
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
@en
Mutations within the human GLYT2
@nl
type
label
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
@ast
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
@en
Mutations within the human GLYT2
@nl
prefLabel
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
@ast
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
@en
Mutations within the human GLYT2
@nl
P2093
P1476
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia
@en
P2093
Bernhard Schmitt
Cord-Michael Becker
Heinrich Betz
Jesús Gomeza
Kristina Becker
P304
P356
10.1016/J.BBRC.2006.07.080
P407
P577
2006-07-26T00:00:00Z