Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
about
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor traffickingA missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouseMutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesisDecreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexiaChloride channels as drug targets.The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivoA GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptorsA novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexiaThe Intracellular Loop of the Glycine Receptor: It's not all about the SizeGenetic neurological channelopathies: molecular genetics and clinical phenotypes.The impact of human hyperekplexia mutations on glycine receptor structure and functionSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsThe human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcriptsHyperekplexia in the first year of lifeIsoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexiaDemographically-Based Evaluation of Genomic Regions under Selection in Domestic DogsChloride channels: an emerging molecular pictureHyperekplexia in neonatesIdentification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channelDifferentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing α2β subunitsPoint mutation of glycine receptor alpha 1 subunit in the spasmodic mouse affects agonist responsesRole of Nova-1 in regulating alpha2N, a novel glycine receptor splice variant, in developing spinal cord neuronsLow level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic miceTransient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease.Predicted structure of the extracellular region of ligand-gated ion-channel receptors shows SH2-like and SH3-like domains forming the ligand-binding siteRole of charged residues in coupling ligand binding and channel activation in the extracellular domain of the glycine receptor.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.Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.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?Zebrafish bandoneon mutants display behavioral defects due to a mutation in the glycine receptor beta-subunit.Myoclonic disorders: a practical approach for diagnosis and treatment.The glycinergic system in human startle disease: a genetic screening approach.Defective glycinergic synaptic transmission in zebrafish motility mutants.Neurological channelopathies.
P2860
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P2860
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@ast
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@en
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@en-gb
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@nl
type
label
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@ast
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@en
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@en-gb
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@nl
prefLabel
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@ast
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@en
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@en-gb
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@nl
P2093
P3181
P356
P1433
P1476
Mutations in the alpha 1 subun ...... ologic disorder, hyperekplexia
@en
P2093
P2888
P3181
P356
10.1038/NG1293-351
P407
P577
1993-12-01T00:00:00Z
P5875
P6179
1006015428