| 1 | ARHGEF9, GPHN, IFNAR2, PSMD14, PTMA, RAB2A
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| Identification of Differentially Expressed Genes through Integrated Study of Alzheimer's Disease Affected Brain Regions.
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| Puthiyedth N, Riveros C, Berretta R, Moscato P.
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| PLoS One 11(4):e0152342. doi: 10.1371/journal.pone.0152342.
2016
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| 2 | ARHGEF9, EIF3A, GPHN, MTOR
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| Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.
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| Machado CO, Griesi-Oliveira K, Rosenberg C, Kok F, Martins S, Passos-Bueno MR, Sertie AL.
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| Eur J Hum Genet 24(1):59-65. doi: 10.1038/ejhg.2015.69.
2016
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| 3 | EPHA7, GPHN
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| Receptor tyrosine kinase EphA7 is required for interneuron connectivity at specific subcellular compartments of granule cells.
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| Beuter S, Ardi Z, Horovitz O, Wuchter J, Keller S, Saha R, Tripathi K, Anunu R, Kehat O, Kriebel M, Richter-Levin G, Volkmer H.
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| Sci Rep 6:29710. doi: 10.1038/srep29710.
2016
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| 4 | EEOC2, GPHN
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| Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
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| Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D; EuroEPINOMICS Dravet working group.
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| EMBO Mol Med 7(12):1580-94. doi: 10.15252/emmm.201505323.
2015
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| 5 | GPHN
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| Human gephyrin is encompassed within giant functional noncoding yin-yang sequences.
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| Climer S, Templeton AR, Zhang W.
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| Nat Commun 6:6534. doi: 10.1038/ncomms7534.
2015
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| 6 | GPHN, GSK3B, KIF5A, NLGN2
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| GSK3 and KIF5 regulate activity-dependent sorting of gephyrin between axons and dendrites.
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| Rathgeber L, Gromova KV, Schaefer I, Breiden P, Lohr C, Kneussel M.
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| Eur J Cell Biol 94(3-4):173-8. doi: 10.1016/j.ejcb.2015.01.005.
2015
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| 7 | GABRA5, GPHN
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| Synaptic localization of α5 GABA (A) receptors via gephyrin interaction regulates dendritic outgrowth and spine maturation.
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| Brady ML, Jacob TC.
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| Dev Neurobiol 75(11):1241-51. doi: 10.1002/dneu.22280. Epub 2015 Feb 18.
2015
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| 8 | GAP43, GPHN
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| Protein kinase C-dependent growth-associated protein 43 phosphorylation regulates gephyrin aggregation at developing GABAergic synapses.
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| Wang CY, Lin HC, Song YP, Hsu YT, Lin SY, Hsu PC, Lin CH, Hung CC, Hsu MC, Kuo YM, Lee YJ, Hsu CY, Lee YH.
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| Mol Cell Biol 35(10):1712-26. doi: 10.1128/MCB.01332-14. Epub 2015 Mar 9.
2015
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| 9 | EEOC2, GPHN
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| Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
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| Dejanovic B, Lal D, Catarino CB, Arjune S, Belaidi AA, Trucks H, Vollmar C, Surges R, Kunz WS, Motameny S, Altmüller J, Köhler A, Neubauer BA, Epicure Consortium, Nürnberg P, Noachtar S, Schwarz G, Sander T.
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| Neurobiol Dis 67:88-96. doi: 10.1016/j.nbd.2014.02.001.
2014
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| 10 | GPHN, NLGN2, PIN1
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| Pin1-dependent signalling negatively affects GABAergic transmission by modulating neuroligin2/gephyrin interaction.
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| Antonelli R, Pizzarelli R, Pedroni A, Fritschy JM, Del Sal G, Cherubini E, Zacchi P.
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| Nat Commun 5:5066. doi: 10.1038/ncomms6066.
2014
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| 11 | CDK5, GPHN
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| Cyclin-dependent kinase 5 is involved in the phosphorylation of gephyrin and clustering of GABAA receptors at inhibitory synapses of hippocampal neurons.
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| Kalbouneh H, Schlicksupp A, Kirsch J, Kuhse J.
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| PLoS One 9(8):e104256. doi: 10.1371/journal.pone.0104256.
2014
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| 12 | GPHN
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| Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
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| Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW.
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| Hum Mol Genet 22(10):2055-66. doi: 10.1093/hmg/ddt056.
2013
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| 13 | GPHN
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| Abnormal gephyrin immunoreactivity associated with Alzheimer disease pathologic changes.
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| Hales CM, Rees H, Seyfried NT, Dammer EB, Duong DM, Gearing M, Montine TJ, Troncoso JC, Thambisetty M, Levey AI, Lah JJ, Wingo TS.
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| J Neuropathol Exp Neurol 72(11):1009-15. doi: 10.1097/01.jnen.0000435847.59828.db.
2013
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| 14 | GPHN
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| Gephyrin plays a key role in BDNF-dependent regulation of amygdala surface GABAARs.
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| Mou L, Dias BG, Gosnell H, Ressler KJ.
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| Neuroscience 255:33-44. doi: 10.1016/j.neuroscience.2013.09.051.
2013
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| 15 | GPHN
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| Splice-specific glycine receptor binding, folding, and phosphorylation of the scaffolding protein gephyrin.
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| Herweg J, Schwarz G.
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| J Biol Chem 287(16):12645-56. Epub 2012 Feb 17.
2012
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| 16 | ARHGEF9, CDK5, GPHN
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| Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
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| Kuhse J, Kalbouneh H, Schlicksupp A, Mükusch S, Nawrotzki R, Kirsch J.
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| J Biol Chem 287(37):30952-66. doi: 10.1074/jbc.M112.349597.
2012
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| 17 | GPHN
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| Expression and subcellular distribution of gephyrin in non-neuronal tissues and cells.
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| Nawrotzki R, Islinger M, Vogel I, Völkl A, Kirsch J.
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| Histochem Cell Biol 137(4):471-82. doi: 10.1007/s00418-012-0914-7.
2012
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| 18 | GLRB, GPHN, NBEA, VPS35
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| The trafficking proteins Vacuolar Protein Sorting 35 and Neurobeachin interact with the glycine receptor β-subunit.
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| del Pino I, Paarmann I, Karas M, Kilimann MW, Betz H.
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| Biochem Biophys Res Commun 412(3):435-40. Epub 2011 Jul 29.
2011
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| 19 | GPHN
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| Gephyrin-mediated γ-aminobutyric acid type A and glycine receptor clustering relies on a common binding site.
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| Maric HM, Mukherjee J, Tretter V, Moss SJ, Schindelin H.
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| J Biol Chem 286(49):42105-14. Epub 2011 Oct 17.
2011
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| 20 | GPHN
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| Molecular basis of the γ-aminobutyric acid A receptor α3 subunit interaction with the clustering protein gephyrin.
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| Tretter V, Kerschner B, Milenkovic I, Ramsden SL, Ramerstorfer J, Saiepour L, Maric HM, Moss SJ, Schindelin H, Harvey RJ, Sieghart W, Harvey K.
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| J Biol Chem 286(43):37702-11. Epub 2011 Aug 31.
2011
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| 21 | GPHN
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| Downregulation of gephyrin in temporal lobe epilepsy neurons in humans and a rat model.
|
| Fang M, Shen L, Yin H, Pan YM, Wang L, Chen D, Xi ZQ, Xiao Z, Wang XF, Zhou SN.
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| Synapse 65(10):1006-14. doi: 10.1002/syn.20928. Epub 2011 Apr 7.
2011
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| 22 | GPHN, MOCODA, MOCODB, MOCODC, MOCS1, MOCS2
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| Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
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| Reiss J, Hahnewald R.
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| Hum Mutat 32(1):10-8. doi: 10.1002/humu.21390. Review.
2011
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| 23 | ARHGEF9, GPHN
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| Complex role of collybistin and gephyrin in GABAA receptor clustering.
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| Saiepour L, Fuchs C, Patrizi A, Sassoè-Pognetto M, Harvey RJ, Harvey K.
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| J Biol Chem 285(38):29623-31. Epub 2010 Jul 9.
2010
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| 24 | ARHGEF9, GPHN
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| PH-domain-driven targeting of collybistin but not Cdc42 activation is required for synaptic gephyrin clustering.
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| Reddy-Alla S, Schmitt B, Birkenfeld J, Eulenburg V, Dutertre S, Böhringer C, Götz M, Betz H, Papadopoulos T.
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| Eur J Neurosci 31(7):1173-84. Epub 2010 Mar 19.
2010
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| 25 | GPHN
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| Inhibitory postsynaptic membrane specializations are formed in gephyrin-deficient mice.
|
| O'Sullivan GA, Hofer W, Betz H.
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| Neurosci Lett 458(3):106-10. Epub 2009 Apr 19.
2009
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| 26 | GLRA1, GLRB, GPHN, SLC6A5, STHE1, STHE2, STHE3, STHE4
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| The genetics of hyperekplexia: more than startle!
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| Harvey RJ, Topf M, Harvey K, Rees MI.
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| Trends Genet 24(9):439-47. Epub 2008 Aug 15.
2008
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| 27 | GPHN
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| Gephyrin: where do we stand, where do we go?
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| Fritschy JM, Harvey RJ, Schwarz G.
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| Trends Neurosci 31(5):257-64. Epub 2008 Apr 9. Review.
2008
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| 28 | GPHN
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| The small oligomerization domain of gephyrin converts MLL to an oncogene.
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| Eguchi M, Eguchi-Ishimae M, Greaves M.
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| Blood 103(10):3876-82. Epub 2004 Jan 29.
2004
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| 29 | GPHN, MOCODA, MOCODC, MOCS1, MOCS2
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| Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
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| Reiss J, Johnson JL.
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| Hum Mutat 21(6):569-76. Review. 2003
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| 30 | GPHN, STHE2
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| Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
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| Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG.
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| J Biol Chem 278(27):24688-96. Epub 2003 Apr 8. 2003
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| 31 | GPHN, MOCS3
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| A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.
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| Reiss J, Gross-Hardt S, Christensen E, Schmidt P, Mendel RR, Schwarz G.
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| Am J Hum Genet 68(1):208-13. 2001
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| 32 | GPHN, KMT2A
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| GPHN, a novel partner gene fused to MLL in a leukemia with t(11;14)(q23;q24).
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| Eguchi M, Eguchi-Ishimae M, Seto M, Morishita K, Suzuki K, Ueda R, Ueda K, Kamada N, Greaves M.
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| Genes Chromosomes Cancer 32 : 212-221. 2001
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| 33 | GPHN
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| t(11;14)(q23;q24) generates an MLL-human gephyrin fusion gene along with a de facto truncated MLL in acute monoblastic leukemia.
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| Kuwada N, Kimura F, Matsumura T, Yamashita T, Nakamura Y, Wakimoto N, Ikeda T, Sato K, Motoyoshi K.
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| Cancer Res 61(6):2665-9. 2001
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| 34 | GPHN
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| The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells.
|
| David-Watine B.
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| Gene 271(2):239-45. 2001
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| 35 | ARHGEF9, GPHN
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| Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin
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| Grosskreutz Y, Hermann A, Kins S, Fuhrmann JC, Betz H, Kneussel M.
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| Biol Chem 382(10):1455-62. 2001
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| 36 | GPHN
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| Mini-review: gephyrin, a major postsynaptic protein of GABAergic synapses.
|
| Sassoe-Pognetto M, Fritschy JM.
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| Eur J Neurosci 12(7):2205-10. Review. 2000
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| 37 | GPHN
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| Hydrophobic interactions mediate binding of the glycine receptor beta-subunit to gephyrin.
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| Kneussel M, et al.
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| J Neurochem 72 : 1323-1326. 1999
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| 38 | GPHN
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| The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells.
|
| Stallmeyer B, et al.
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| Proc Natl Acad Sci U S A 96 : 1333-1338. 1999
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| 39 | GPHN
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| Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.
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| Feng G, et al.
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| Science 282 : 1321-1324. 1998
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| 40 | GPHN
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| Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein.
|
| Prior P, Schmitt B, Grenningloh G, Pribilla I, Multhaup G, Beyreuther K, Maulet Y, Werner P, Langosch D, Kirsch J, et al.
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| Neuron 8(6):1161-70. 1992
|