Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability

Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability

Item
http://www.wikidata.org/entity/Q28257487
The Intracellular Loop of the Glycine Receptor: It's not all about the SizeThe impact of human hyperekplexia mutations on glycine receptor structure and functionGlycine receptor mouse mutants: model systems for human hyperekplexiaGlycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.Control of ethanol sensitivity of the glycine receptor α3 subunit by transmembrane 2, the intracellular splice cassette and C-terminal domains.Characterization of two mutations, M287L and Q266I, in the α1 glycine receptor subunit that modify sensitivity to alcohols.Incompatibility between a pair of residues from the pre-M1 linker and Cys-loop blocks surface expression of the glycine receptorNew hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.Synaptic signalling and its interface with neuropathologies: snapshots from the past, present and future.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.A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.The GlyR Extracellular β8-β9 Loop - A Functional Determinant of Agonist Potency.A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors.Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease.Impaired Glycine Receptor Trafficking in Neurological Diseases
P2860

Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability

Item
http://www.wikidata.org/entity/Q28257487
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Recessive hyperekplexia mutati ...... face integration and stability
@ast
Recessive hyperekplexia mutati ...... face integration and stability
@en
Recessive hyperekplexia mutati ...... face integration and stability
@nl
type
label
Recessive hyperekplexia mutati ...... face integration and stability
@ast
Recessive hyperekplexia mutati ...... face integration and stability
@en
Recessive hyperekplexia mutati ...... face integration and stability
@nl
prefLabel
Recessive hyperekplexia mutati ...... face integration and stability
@ast
Recessive hyperekplexia mutati ...... face integration and stability
@en
Recessive hyperekplexia mutati ...... face integration and stability
@nl
P1433
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Recessive hyperekplexia mutati ...... face integration and stability
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P2093
P2860
P304
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P3181
P356
10.1111/J.1471-4159.2009.06372.X
P407
P433
P478
P577
P5875
P698