The impact of human hyperekplexia mutations on glycine receptor structure and function
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Defects of the Glycinergic Synapse in Zebrafish.The Intracellular Loop of the Glycine Receptor: It's not all about the SizeA Recombinant Human Pluripotent Stem Cell Line Stably Expressing Halide-Sensitive YFP-I152L for GABAAR and GlyR-Targeted High-Throughput Drug Screening and Toxicity Testing.Glycine receptor mechanism elucidated by electron cryo-microscopy.Crystal structure of human glycine receptor-α3 bound to antagonist strychnineNeonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-FunctionDisturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.Membrane potential depolarization causes alterations in neuron arrangement and connectivity in cocultures.Correlating structural and energetic changes in glycine receptor activation.A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case reportA microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.Generation of Functional Inhibitory Synapses Incorporating Defined Combinations of GABA(A) or Glycine Receptor Subunits.Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia.The Free Zinc Concentration in the Synaptic Cleft of Artificial Glycinergic Synapses Rises to At least 1 μMGenetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease.Phenotyping Cellular Viability by Functional Analysis of Ion Channels: GlyR-Targeted Screening in NT2-N Cells.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.The Startle Disease Mutation E103K Impairs Activation of Human Homomeric α1 Glycine Receptors by Disrupting an Intersubunit Salt Bridge across the Agonist Binding Site.A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.Activation and modulation of recombinant glycine and GABAA receptors by 4-halogenated analogues of propofol.The GlyR Extracellular β8-β9 Loop - A Functional Determinant of Agonist Potency.Defective SLC6A5 causes hyperekplexia 3 (HKPX3)Glycine receptor α3 and α2 subunits mediate tonic and exogenous agonist-induced currents in forebrain.The role of charged residues in independent glycine receptor folding domains for intermolecular interactions and ion channel function.A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors.Impaired Glycine Receptor Trafficking in Neurological DiseasesGlycine is able to induce both a motility speed in- and decrease during zebrafish neuronal migration
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P2860
The impact of human hyperekplexia mutations on glycine receptor structure and function
description
2014 nî lūn-bûn
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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2014 թվականի հունվարին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
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2014年論文
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2014年论文
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name
The impact of human hyperekplexia mutations on glycine receptor structure and function
@ast
The impact of human hyperekplexia mutations on glycine receptor structure and function
@en
The impact of human hyperekplexia mutations on glycine receptor structure and function
@nl
type
label
The impact of human hyperekplexia mutations on glycine receptor structure and function
@ast
The impact of human hyperekplexia mutations on glycine receptor structure and function
@en
The impact of human hyperekplexia mutations on glycine receptor structure and function
@nl
prefLabel
The impact of human hyperekplexia mutations on glycine receptor structure and function
@ast
The impact of human hyperekplexia mutations on glycine receptor structure and function
@en
The impact of human hyperekplexia mutations on glycine receptor structure and function
@nl
P2860
P921
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The impact of human hyperekplexia mutations on glycine receptor structure and function
@en
P2093
Joseph W Lynch
P2860
P2888
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P356
10.1186/1756-6606-7-2
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P5008
P577
2014-01-09T00:00:00Z
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P6179
1042622335