New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. - Wikidata - thesis-toulmin - TriplyDB

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

http://www.wikidata.org/entity/Q37333728

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The Intracellular Loop of the Glycine Receptor: It's not all about the Size The impact of human hyperekplexia mutations on glycine receptor structure and function Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.Correlating structural and energetic changes in glycine receptor activation.Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.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 μM Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.Contribution of Resting Conductance, GABAA-Receptor Mediated Miniature Synaptic Currents and Neurosteroid to Chloride Homeostasis in Central Neurons.Single expressed glycine receptor domains reconstitute functional ion channels without subunit-specific desensitization behavior.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.GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses.A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors.Impaired Glycine Receptor Trafficking in Neurological Diseases Glycine is able to induce both a motility speed in- and decrease during zebrafish neuronal migration

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New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

http://www.wikidata.org/entity/Q37333728

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 09 October 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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New hyperekplexia mutations pr ...... ng, and activation mechanisms.

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New hyperekplexia mutations pr ...... ng, and activation mechanisms.

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New hyperekplexia mutations pr ...... ng, and activation mechanisms.

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New hyperekplexia mutations pr ...... ng, and activation mechanisms.

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New hyperekplexia mutations pr ...... ng, and activation mechanisms.

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JBC.M113.509240

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Journal of Biological Chemistry

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New hyperekplexia mutations pr ...... ing, and activation mechanisms

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Alfred P Born

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Amanda Krause

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Amira Masri

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Anna Bode

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Bulent Kara

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Catherine Vincent-Delorme

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Cheney J G Drew

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Elizabeth A Jones

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Emma Hobson

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Fusun Alehan

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P2860

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking

The beta subunit determines the ligand binding properties of synaptic glycine receptors

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia

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

Principles of activation and permeation in an anion-selective Cys-loop receptor

UCSF Chimera--a visualization system for exploratory research and analysis

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33745-33759

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scholarly article

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10.1074/JBC.M113.509240

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47

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288

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Owain W. Howell

Angelo Keramidas

Jonathan Mullins

Seo-Kyung Chung

Thomas D Cushion

William O Pickrell

Samuel Berkovic

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2013-10-09T00:00:00Z

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257599130

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3837119

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