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Gephyrin, GEPH, GPHN
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, Rdl, OUT, collybistin, CAN
Papers on Gephyrin
Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis.
Toren et al., Tel Aviv-Yafo, Israel. In Bmc Genomics, Dec 2015
CONCLUSIONS: Our findings provide the first high-resolution genome-wide view of chromosomal changes in hemangioblastoma and identify 23 candidate genes: EGFR, PRDM16, PTPN11, HOXD11, HOXD13, FLT3, PTCH, FGFR1, FOXP1, GPC3, HOXC13, HOXC11, MKL1, CHEK2, IRF4, GPHN, IKZF1, RB1, HOXA9, and micro RNA, such as hsa-mir-196a-2 for hemangioblastoma pathogenesis.
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
Surti et al., Pittsburgh, United States. In Am J Med Genet A, Aug 2015
The proband's older sister with DD, seizures, and ASD has a 438 kb intragenic microdeletion of the GPHN gene in the chromosome 14q23.3
Prevalence of chromosomal rearrangements involving non-ETS genes in prostate cancer.
Minner et al., Hamburg, Germany. In Int J Oncol, Apr 2015
One rearranged tumor sample was observed for each of VCL, ZNF578, IMMP2L, SLC16A12, PANK1, GPHN, LRP1 and ZHX2.
Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.
Brose et al., Göttingen, Germany. In J Biol Chem, Apr 2015
In key areas of the mammalian brain, such as the hippocampus or the basolateral amygdala, the clustering of the scaffolding protein Gephyrin and of γ-aminobutyric acid type A receptors at inhibitory neuronal synapses is critically dependent upon the brain-specific guanine nucleotide exchange factor Collybistin (Cb).
Inhibitory axons are targeted in hippocampal cell culture by anti-Caspr2 autoantibodies associated with limbic encephalitis.
Faivre-Sarrailh et al., Marseille, France. In Front Cell Neurosci, 2014
Functional assays indicated that LE autoantibodies may induce alteration of Gephyrin clusters at inhibitory synaptic contacts.
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Schwarz et al., Antwerp, Belgium. In Embo Mol Med, 2014
We identified a de novo missense mutation (G375D) in the gephyrin gene (GPHN) in a patient with epileptic encephalopathy resembling Dravet syndrome.
Characterizing synaptic protein development in human visual cortex enables alignment of synaptic age with rat visual cortex.
Murphy et al., Hamilton, Canada. In Front Neural Circuits, 2014
In this study, we quantified expression of a set of highly conserved pre- and post-synaptic proteins (Synapsin, Synaptophysin, PSD-95, Gephyrin) and found that synaptic development in human primary visual cortex (V1) continues into late childhood.
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
Sander et al., Köln, Germany. In Neurobiol Dis, 2014
Recently, exonic microdeletions in the gephyrin (GPHN) gene have been associated with neurodevelopmental disorders including autism spectrum disorder, schizophrenia and epileptic seizures.
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Vincent et al., Toronto, Canada. In Neurogenetics, 2014
Twenty-two CNVs were validated from this set (five of which are apparently de novo), many of which appear likely to disrupt genes that may be considered as good candidates for neuropsychiatric disorders, including DLG2, S100B, ARX, DIP2A, HPCAL1, and GPHN.
Neural circuit interactions between the dorsal raphe nucleus and the lateral hypothalamus: an experimental and computational study.
Hölscher et al., Coleraine, United Kingdom. In Plos One, 2013
We also show that Ox axonal projections receive glutamatergic (PSD-95 immunopositive) and GABAergic (Gephyrin immunopositive) inputs in the DRN.
Glycine receptor mouse mutants: model systems for human hyperekplexia.
Villmann et al., Würzburg, Germany. In Br J Pharmacol, 2013
Mutations in genes encoding for glycine receptor subunits or associated proteins, such as GLRA1, GLRB, GPHN and ARHGEF9, have been detected in patients suffering from hyperekplexia.
Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
Kirsch et al., Heidelberg, Germany. In J Biol Chem, 2012
Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
Splice-specific glycine receptor binding, folding, and phosphorylation of the scaffolding protein gephyrin.
Schwarz et al., Köln, Germany. In J Biol Chem, 2012
We propose two models for the domain arrangement in hexameric gephyrin based on the oligomerization of either the E or C domains, with the latter being crucial for the regulation of gephyrin clustering.
Expression and subcellular distribution of gephyrin in non-neuronal tissues and cells.
Kirsch et al., Heidelberg, Germany. In Histochem Cell Biol, 2012
The gephyrin's presence in a cytosolic 600 kDa protein complex suggests that its metabolic and/or other non-neuronal functions are exerted in the cytoplasm and are not confined to a particular subcellular compartment.
Distribution of gephyrin-immunoreactivity in the trigeminal motor nucleus: an immunohistochemical study in rats.
Li et al., Xi'an, China. In Anat Rec (hoboken), 2012
There may be a correlation between the distribution density of gephyrin clusters in the submembrane region of ventromedial (Vm) motoneurons and that of axon terminals making inhibitory synapses on Vm motoneurons.
Gephyrin-mediated γ-aminobutyric acid type A and glycine receptor clustering relies on a common binding site.
Schindelin et al., Würzburg, Germany. In J Biol Chem, 2012
Gephyrin-mediated gamma-aminobutyric acid type A and glycine receptor clustering relies on a common binding site
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Hahnewald et al., Göttingen, Germany. In Hum Mutat, 2011
The majority of mutations leading to MoCo deficiency have been identified in the genes MOCS1 (type A deficiency), MOCS2 (type B deficiency), with one reported in GPHN.
Rees et al., Seattle, United States. In Unknown Journal, 2007
The other genes in which mutation is causative are: SLC6A5, encoding the presynaptic sodium- and chloride-dependent glycine transporter 2 (GlyT2); GLRB, encoding glycine receptor subunit beta; GPHN, encoding the glycinergic clustering molecule, gephyrin; and ARHGEF9, encoding collybistin.
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Harvey et al., Swansea, United Kingdom. In Nat Genet, 2006
Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR beta subunit (GLRB), gephyrin (GPHN) and RhoGEF collybistin (ARHGEF9).
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Johnson et al., Göttingen, Germany. In Hum Mutat, 2003
Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives
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