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Gephyrin, the enigmatic organizer at GABAergic synapsesDefects of the Glycinergic Synapse in Zebrafish.Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias.Glycine receptors containing α2 or α3 subunits regulate specific ethanol-mediated behaviors.Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stabilityDifferentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing α2β subunitsGlycine receptors support excitatory neurotransmitter release in developing mouse visual cortexIn vivo transgenic expression of collybistin in neurons of the rat cerebral cortex.Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses.Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.The alanine-serine-cysteine-1 (Asc-1) transporter controls glycine levels in the brain and is required for glycinergic inhibitory transmission.Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease.Glycine receptor mouse mutants: model systems for human hyperekplexiaStartle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia.Mutation of a zinc-binding residue in the glycine receptor α1 subunit changes ethanol sensitivity in vitro and alcohol consumption in vivoA 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.Behavioral characterization of knockin mice with mutations M287L and Q266I in the glycine receptor α1 subunit.4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors.Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?Duplicated gephyrin genes showing distinct tissue distribution and alternative splicing patterns mediate molybdenum cofactor biosynthesis, glycine receptor clustering, and escape behavior in zebrafishThe glycinergic system in human startle disease: a genetic screening approach.Defective glycinergic synaptic transmission in zebrafish motility mutants.Glycinergic synapse development, plasticity, and homeostasis in zebrafish.The Concise Guide to PHARMACOLOGY 2013/14: transporters.A novel syndrome of lethal familial hyperekplexia associated with brain malformation.Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical reviewStructure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-FunctionEffects of glycinergic inhibition failure on respiratory rhythm and pattern generation.β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia.Glycine transporters as novel therapeutic targets in schizophrenia, alcohol dependence and pain.Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine clusterCalnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2).Microarray gene expression profiling of neural tissues in bovine spastic paresisCharacterization 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 receptorFunction of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 15 August 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The genetics of hyperekplexia: more than startle!
@en
The genetics of hyperekplexia: more than startle!
@nl
type
label
The genetics of hyperekplexia: more than startle!
@en
The genetics of hyperekplexia: more than startle!
@nl
prefLabel
The genetics of hyperekplexia: more than startle!
@en
The genetics of hyperekplexia: more than startle!
@nl
P1433
P1476
The genetics of hyperekplexia: more than startle!
@en
P2093
Kirsten Harvey
P304
P356
10.1016/J.TIG.2008.06.005
P577
2008-08-15T00:00:00Z