Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia
about
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Defects of the Glycinergic Synapse in Zebrafish.The impact of human hyperekplexia mutations on glycine receptor structure and functionA MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypesSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsHuman gephyrin is encompassed within giant functional noncoding yin-yang sequencesPost-phosphorylation prolyl isomerisation of gephyrin represents a mechanism to modulate glycine receptors functionBiochemical characterization of the high affinity binding between the glycine receptor and gephyrinA novel glycine receptor beta subunit splice variant predicts an unorthodox transmembrane topology. Assembly into heteromeric receptor complexesMetal insertion into the molybdenum cofactor: product-substrate channelling demonstrates the functional origin of domain fusion in gephyrinIn vivo transgenic expression of collybistin in neurons of the rat cerebral cortex.Differential regulation of the postsynaptic clustering of γ-aminobutyric acid type A (GABAA) receptors by collybistin isoforms.A 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.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.A critical role for glycine transporters in hyperexcitability disorders.GABA and glycine as neurotransmitters: a brief history.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 reviewSplice-specific functions of gephyrin in molybdenum cofactor biosynthesis.Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breedDeciphering the structural framework of glycine receptor anchoring by gephyrinMicroarray gene expression profiling of neural tissues in bovine spastic paresisA de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case reportGlycine receptors and brain developmentNew hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons.Milestones in myoclonus.Gephyrin: a central GABAergic synapse organizer.Structural basis of dynamic glycine receptor clustering by gephyrin.Splice-specific glycine receptor binding, folding, and phosphorylation of the scaffolding protein gephyrin.A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.Expression and subcellular distribution of gephyrin in non-neuronal tissues and cells.Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity.GLRB is the third major gene of effect in hyperekplexia.Mass spectrometric analysis of glycine receptor-associated gephyrin splice variants.Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.Clinical features and genetic analysis of children with hyperekplexia in Korea.
P2860
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P2860
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia
description
2003 nî lūn-bûn
@nan
2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@ast
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@en
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@nl
type
label
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@ast
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@en
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@nl
prefLabel
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@ast
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@en
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@nl
P2093
P2860
P50
P3181
P356
P1476
Isoform heterogeneity of the h ...... tion analysis in hyperekplexia
@en
P2093
Cynthia C-H Hsu
Francis Gibbon
Hamish Ward
Jan Miller
Julia H White
Kirsten Harvey
Kristin Baer
Michael J Owen
Sharon L Coleman
P2860
P304
P3181
P356
10.1074/JBC.M301070200
P407
P577
2003-07-04T00:00:00Z