A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors

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http://www.wikidata.org/entity/Q24676257
The impact of human hyperekplexia mutations on glycine receptor structure and functionGlycine receptor mouse mutants: model systems for human hyperekplexiaStartle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.Hyperekplexia and stiff-man syndrome: abnormal brainstem reflexes suggest a physiological relationship.Membrane potential depolarization causes alterations in neuron arrangement and connectivity in cocultures.Characterization of mice with targeted deletion of glycine receptor alpha 2.Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia.New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia.Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia.Novel regulatory site within the TM3-4 loop of human recombinant alpha3 glycine receptors determines channel gating and domain structure.Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.Impaired Glycine Receptor Trafficking in Neurological Diseases
P2860

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors

Item
http://www.wikidata.org/entity/Q24676257
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@ast
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@en
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@nl
type
label
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@ast
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@en
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@nl
prefLabel
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@ast
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@en
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
A GLRA1 null mutation in reces ...... onal role of glycine receptors
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932