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Volumn 23, Issue 2, 2015, Pages 195-201

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

Author keywords

[No Author keywords available]

Indexed keywords

CDKL5 PROTEIN; GLUTAMATE RECEPTOR; GLUTAMATE RECEPTOR D1; METHYL CPG BINDING PROTEIN 2; PROTEIN KINASE; UNCLASSIFIED DRUG; CDKL5 PROTEIN, HUMAN; GLUTAMATE RECEPTOR DELTA 1; MECP2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

EID: 84921411214     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.81     Document Type: Article
Times cited : (62)

References (71)
  • 1
    • 0014011176 scopus 로고
    • Ueber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonaemie im Kindesalter
    • Rett A: Ueber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonaemie im Kindesalter. Wien Med Wochenschrift 1966; 116: 723-726.
    • (1966) Wien Med Wochenschrift , vol.116 , pp. 723-726
    • Rett, A.1
  • 2
    • 35648978121 scopus 로고    scopus 로고
    • The story of Rett syndrome: From clinic to neurobiology
    • Chahrour M, Zoghbi HY: The story of Rett syndrome: from clinic to neurobiology. Neuron 2007; 56: 422-437.
    • (2007) Neuron , vol.56 , pp. 422-437
    • Chahrour, M.1    Zoghbi, H.Y.2
  • 3
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
    • Hagberg B, Aicardi J, Dias K, Ramos O: A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983; 14: 471-479.
    • (1983) Ann Neurol , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 4
    • 33746356840 scopus 로고    scopus 로고
    • Rett syndrome: New clinical and molecular insights
    • Williamson SL, Christodoulou J: Rett syndrome: new clinical and molecular insights. Eur J Hum Genet 2006; 14: 896-903.
    • (2006) Eur J Hum Genet , vol.14 , pp. 896-903
    • Williamson, S.L.1    Christodoulou, J.2
  • 5
    • 71849094595 scopus 로고    scopus 로고
    • Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria
    • Artuso R: Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev 2010; 32: 17-24.
    • (2010) Brain Dev , vol.32 , pp. 17-24
    • Artuso, R.1
  • 6
    • 78650903501 scopus 로고    scopus 로고
    • Rett syndrome: Revised diagnostic criteria and nomenclature
    • Neul J, Kaufmann W, Glaze D et al: Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010; 68: 944-950.
    • (2010) Ann Neurol , vol.68 , pp. 944-950
    • Neul, J.1    Kaufmann, W.2    Glaze, D.3
  • 7
    • 0033646967 scopus 로고    scopus 로고
    • Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
    • Amir RE, Zoghbi HY: Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet 2000; 97: 147-152.
    • (2000) Am J Med Genet , vol.97 , pp. 147-152
    • Amir, R.E.1    Zoghbi, H.Y.2
  • 8
    • 0035880454 scopus 로고    scopus 로고
    • Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
    • LaSalle JM, Goldstine J, Balmer D, Greco CM: Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum Mol Genet 2001; 10: 1729-1740.
    • (2001) Hum Mol Genet , vol.10 , pp. 1729-1740
    • LaSalle, J.M.1    Goldstine, J.2    Balmer, D.3    Greco, C.M.4
  • 9
    • 0037081840 scopus 로고    scopus 로고
    • Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
    • Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY: Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 2002; 11: 115-124.
    • (2002) Hum Mol Genet , vol.11 , pp. 115-124
    • Shahbazian, M.D.1    Antalffy, B.2    Armstrong, D.L.3    Zoghbi, H.Y.4
  • 10
    • 34547118571 scopus 로고    scopus 로고
    • Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
    • Jordan C, Li HH, Kwan HC, Francke U: Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. BMC Med Genet 2007; 8: 36.
    • (2007) BMC Med Genet , vol.8 , pp. 36
    • Jordan, C.1    Li, H.H.2    Kwan, H.C.3    Francke, U.4
  • 11
    • 0037180492 scopus 로고    scopus 로고
    • Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain
    • Tudor M, Akbarian S, Chen RZ, Jaenisch R: Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc Natl Acad Sci USA 2002; 99: 15536-15541.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 15536-15541
    • Tudor, M.1    Akbarian, S.2    Chen, R.Z.3    Jaenisch, R.4
  • 13
    • 0027963287 scopus 로고
    • Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents
    • Belichenko PV, Oldfors A, Hagberg B, Dahlstrom A: Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents. Neuroreport 1994; 5: 1509-1513.
    • (1994) Neuroreport , vol.5 , pp. 1509-1513
    • Belichenko, P.V.1    Oldfors, A.2    Hagberg, B.3    Dahlstrom, A.4
  • 14
    • 0035160042 scopus 로고    scopus 로고
    • Gene expression profiling in postmortem Rett Syndrome brain: Differential gene expression and patient classification
    • Colantuoni C, Jeon OH, Hyder K et al: Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiol Dis 2001; 8: 847-865.
    • (2001) Neurobiol Dis , vol.8 , pp. 847-865
    • Colantuoni, C.1    Jeon, O.H.2    Hyder, K.3
  • 15
    • 0032935605 scopus 로고    scopus 로고
    • Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome
    • Blue ME, Naidu S, Johnston MV: Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome. Exp Neurol 1999; 156: 345-352.
    • (1999) Exp Neurol , vol.156 , pp. 345-352
    • Blue, M.E.1    Naidu, S.2    Johnston, M.V.3
  • 16
  • 17
    • 27144463130 scopus 로고    scopus 로고
    • Early onset seizures and Rett-like features associated with mutations in CDKL5
    • Evans J, Archer H, Colley J et al: Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 2005; 13: 1113-1120.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1113-1120
    • Evans, J.1    Archer, H.2    Colley, J.3
  • 18
    • 13444263520 scopus 로고    scopus 로고
    • CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
    • Scala E, Ariani F, Mari F et al: CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42: 103-107.
    • (2005) J Med Genet , vol.42 , pp. 103-107
    • Scala, E.1    Ariani, F.2    Mari, F.3
  • 19
    • 0032144185 scopus 로고    scopus 로고
    • Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region
    • Montini E, Andolfi G, Caruso A et al: Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics 1998; 51: 427-433.
    • (1998) Genomics , vol.51 , pp. 427-433
    • Montini, E.1    Andolfi, G.2    Caruso, A.3
  • 20
    • 29644439879 scopus 로고    scopus 로고
    • CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
    • Lin C, Franco B, Rosner MR: CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet 2005; 14: 3775-3786.
    • (2005) Hum Mol Genet , vol.14 , pp. 3775-3786
    • Lin, C.1    Franco, B.2    Rosner, M.R.3
  • 21
    • 57649148768 scopus 로고    scopus 로고
    • CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail
    • Rusconi L, Salvatoni L, Giudici L et al: CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. J Biol Chem 2008; 283: 30101-30111.
    • (2008) J Biol Chem , vol.283 , pp. 30101-30111
    • Rusconi, L.1    Salvatoni, L.2    Giudici, L.3
  • 22
    • 80054684531 scopus 로고    scopus 로고
    • Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation
    • Rusconi L, Kilstrup-Nielsen C, Landsberger N: Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation. J Biol Chem 2011; 286: 36550-36558.
    • (2011) J Biol Chem , vol.286 , pp. 36550-36558
    • Rusconi, L.1    Kilstrup-Nielsen, C.2    Landsberger, N.3
  • 23
    • 84865773360 scopus 로고    scopus 로고
    • CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons
    • Ricciardi S, Ungaro F, Hambrock M et al: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nat Cell Biol 2012; 14: 911-923.
    • (2012) Nat Cell Biol , vol.14 , pp. 911-923
    • Ricciardi, S.1    Ungaro, F.2    Hambrock, M.3
  • 24
    • 56349150405 scopus 로고    scopus 로고
    • Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1
    • Kameshita I, Sekiguchi M, Hamasaki D et al: Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1. Biochem Biophys Res Commun 2008; 377: 1162-1167.
    • (2008) Biochem Biophys Res Commun , vol.377 , pp. 1162-1167
    • Kameshita, I.1    Sekiguchi, M.2    Hamasaki, D.3
  • 25
    • 77955777156 scopus 로고    scopus 로고
    • Cell cloning-based transcriptome analysis in Rett patients: Relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
    • Nectoux J, Fichou Y, Rosas-Vargas H et al: Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes. J Cell Mol Med 2010; 14: 1962-1974.
    • (2010) J Cell Mol Med , vol.14 , pp. 1962-1974
    • Nectoux, J.1    Fichou, Y.2    Rosas-Vargas, H.3
  • 26
    • 26444495179 scopus 로고    scopus 로고
    • CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
    • Mari F, Azimonti S, Bertani I et al: CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005; 14: 1935-1946.
    • (2005) Hum Mol Genet , vol.14 , pp. 1935-1946
    • Mari, F.1    Azimonti, S.2    Bertani, I.3
  • 27
    • 33845988053 scopus 로고    scopus 로고
    • Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation
    • Bertani I, Rusconi L, Bolognese F et al: Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem 2006; 281: 32048-32056.
    • (2006) J Biol Chem , vol.281 , pp. 32048-32056
    • Bertani, I.1    Rusconi, L.2    Bolognese, F.3
  • 28
    • 77952553247 scopus 로고    scopus 로고
    • CDKL5 is a brain MeCP2 target gene regulated by DNA methylation
    • Carouge D, Host L, Aunis D, Zwiller J, Anglard P: CDKL5 is a brain MeCP2 target gene regulated by DNA methylation. Neurobiol Dis 2010; 38: 414-424.
    • (2010) Neurobiol Dis , vol.38 , pp. 414-424
    • Carouge, D.1    Host, L.2    Aunis, D.3    Zwiller, J.4    Anglard, P.5
  • 29
    • 36248966518 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    • Takahashi K, Tanabe K, Ohnuki M et al: Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007; 131: 861-872.
    • (2007) Cell , vol.131 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2    Ohnuki, M.3
  • 30
    • 34347242446 scopus 로고    scopus 로고
    • Signaling in adult stem cells
    • Lowry WE, Richter L: Signaling in adult stem cells. Front Biosci 2007; 12: 3911-3927.
    • (2007) Front Biosci , vol.12 , pp. 3911-3927
    • Lowry, W.E.1    Richter, L.2
  • 31
    • 80155144126 scopus 로고    scopus 로고
    • Induced pluripotent stem cells (iPSCs) and neurological disease modeling: Progress and promises
    • Marchetto MC, Brennand KJ, Boyer LF, Gage FH: Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises. Hum Mol Genet 2011; 20: R109-R115.
    • (2011) Hum Mol Genet , vol.20 , pp. R109-R115
    • Marchetto, M.C.1    Brennand, K.J.2    Boyer, L.F.3    Gage, F.H.4
  • 32
    • 77956214743 scopus 로고    scopus 로고
    • Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells
    • Urbach A, Bar-Nur O, Daley GQ, Benvenisty N: Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell 2010; 6: 407-411.
    • (2010) Cell Stem Cell , vol.6 , pp. 407-411
    • Urbach, A.1    Bar-Nur, O.2    Daley, G.Q.3    Benvenisty, N.4
  • 33
    • 78049303170 scopus 로고    scopus 로고
    • Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes
    • Chamberlain SJ, Chen PF, Ng KY et al: Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci U S A 2010; 107: 17668-17673.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 17668-17673
    • Chamberlain, S.J.1    Chen, P.F.2    Ng, K.Y.3
  • 34
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
    • Marchetto MC, Carromeu C, Acab A et al: A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 2010; 143: 527-539.
    • (2010) Cell , vol.143 , pp. 527-539
    • Marchetto, M.C.1    Carromeu, C.2    Acab, A.3
  • 35
    • 79955602167 scopus 로고    scopus 로고
    • Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
    • Cheung AY, Horvath LM, Grafodatskaya D et al: Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet 2011; 20: 2103-2115.
    • (2011) Hum Mol Genet , vol.20 , pp. 2103-2115
    • Cheung, A.Y.1    Horvath, L.M.2    Grafodatskaya, D.3
  • 36
    • 80053143413 scopus 로고    scopus 로고
    • Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model
    • Ananiev G, Williams EC, Li H, Chang Q: Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. PLoS One 2011; 6: e25255.
    • (2011) PLoS One , vol.6 , pp. e25255
    • Ananiev, G.1    Williams, E.C.2    Li, H.3    Chang, Q.4
  • 38
    • 65449121435 scopus 로고    scopus 로고
    • Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency
    • Hotta A, Cheung AY, Farra N et al: Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency. Nat Methods 2009; 6: 370-376.
    • (2009) Nat Methods , vol.6 , pp. 370-376
    • Hotta, A.1    Cheung, A.Y.2    Farra, N.3
  • 39
    • 79952292990 scopus 로고    scopus 로고
    • Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells
    • Yuan SH, Martin J, Elia J et al: Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells. PLoS One 2011; 6: e17540.
    • (2011) PLoS One , vol.6 , pp. e17540
    • Yuan, S.H.1    Martin, J.2    Elia, J.3
  • 40
    • 0030864465 scopus 로고    scopus 로고
    • The glutamate receptor subunit delta1 is highly expressed in hair cells of the auditory and vestibular systems
    • Safieddine S, Wenthold RJ: The glutamate receptor subunit delta1 is highly expressed in hair cells of the auditory and vestibular systems. J Neurosci 1997; 17: 7523-7531.
    • (1997) J Neurosci , vol.17 , pp. 7523-7531
    • Safieddine, S.1    Wenthold, R.J.2
  • 41
    • 37649022627 scopus 로고    scopus 로고
    • Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
    • Yasui DH, Peddada S, Bieda MC et al: Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci USA 2007; 104: 19416-19421.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 19416-19421
    • Yasui, D.H.1    Peddada, S.2    Bieda, M.C.3
  • 42
    • 1842689270 scopus 로고    scopus 로고
    • Purification of neuronal precursors from the adult mouse brain: Comprehensive gene expression analysis provides new insights into the control of cell migration, differentiation, and homeostasis
    • Pennartz S, Belvindrah R, Tomiuk S et al: Purification of neuronal precursors from the adult mouse brain: comprehensive gene expression analysis provides new insights into the control of cell migration, differentiation, and homeostasis. Mol Cell Neurosci 2004; 25: 692-706.
    • (2004) Mol Cell Neurosci , vol.25 , pp. 692-706
    • Pennartz, S.1    Belvindrah, R.2    Tomiuk, S.3
  • 43
    • 45849105557 scopus 로고    scopus 로고
    • MeCP2, a key contributor to neurological disease, activates and represses transcription
    • Chahrour M, Jung SY, Shaw C et al: MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 2008; 320: 1224-1229.
    • (2008) Science , vol.320 , pp. 1224-1229
    • Chahrour, M.1    Jung, S.Y.2    Shaw, C.3
  • 44
    • 77957196807 scopus 로고    scopus 로고
    • CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling
    • Chen Q, Zhu YC, Yu J et al: CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci 2010; 30: 12777-12786.
    • (2010) J Neurosci , vol.30 , pp. 12777-12786
    • Chen, Q.1    Zhu, Y.C.2    Yu, J.3
  • 46
    • 79951670494 scopus 로고    scopus 로고
    • Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy
    • Nectoux J, Fichou Y, Cagnard N et al: Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. J Mol Med (Berl) 2011; 89: 193-202.
    • (2011) J Mol Med (Berl) , vol.89 , pp. 193-202
    • Nectoux, J.1    Fichou, Y.2    Cagnard, N.3
  • 47
    • 2542433290 scopus 로고    scopus 로고
    • Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations
    • Traynor J, Agarwal P, Lazzeroni L, Francke U: Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet 2002; 3: 12.
    • (2002) BMC Med Genet , vol.3 , pp. 12
    • Traynor, J.1    Agarwal, P.2    Lazzeroni, L.3    Francke, U.4
  • 48
    • 0026557708 scopus 로고
    • Molecular cloning of a cDNA encoding a novel member of the mouse glutamate receptor channel family
    • Yamazaki M, Araki K, Shibata A, Mishina M: Molecular cloning of a cDNA encoding a novel member of the mouse glutamate receptor channel family. Biochem Biophys Res Commun 1992; 183: 886-892.
    • (1992) Biochem Biophys Res Commun , vol.183 , pp. 886-892
    • Yamazaki, M.1    Araki, K.2    Shibata, A.3    Mishina, M.4
  • 49
    • 0027454751 scopus 로고
    • The rat delta-1 and delta-2 subunits extend the excitatory amino acid receptor family
    • Lomeli H, Sprengel R, Laurie DJ et al: The rat delta-1 and delta-2 subunits extend the excitatory amino acid receptor family. FEBS Lett 1993; 315: 318-322.
    • (1993) FEBS Lett , vol.315 , pp. 318-322
    • Lomeli, H.1    Sprengel, R.2    Laurie, D.J.3
  • 50
    • 0028927274 scopus 로고
    • Immunoprecipitation, immunoblotting, and immunocytochemistry studies suggest that glutamate receptor delta subunits form novel postsynaptic receptor complexes
    • Mayat E, Petralia RS, Wang YX, Wenthold RJ: Immunoprecipitation, immunoblotting, and immunocytochemistry studies suggest that glutamate receptor delta subunits form novel postsynaptic receptor complexes. J Neurosci 1995; 15: 2533-2546.
    • (1995) J Neurosci , vol.15 , pp. 2533-2546
    • Mayat, E.1    Petralia, R.S.2    Wang, Y.X.3    Wenthold, R.J.4
  • 51
    • 84862776679 scopus 로고    scopus 로고
    • Glutamate receptor delta1 induces preferentially inhibitory presynaptic differentiation of cortical neurons by interacting with neurexins through cerebellin precursor protein subtypes
    • Yasumura M, Yoshida T, Lee SJ, Uemura T, Joo JY, Mishina M: Glutamate receptor delta1 induces preferentially inhibitory presynaptic differentiation of cortical neurons by interacting with neurexins through cerebellin precursor protein subtypes. J Neurochem 2012; 121: 705-716.
    • (2012) J Neurochem , vol.121 , pp. 705-716
    • Yasumura, M.1    Yoshida, T.2    Lee, S.J.3    Uemura, T.4    Joo, J.Y.5    Mishina, M.6
  • 52
    • 63849272826 scopus 로고    scopus 로고
    • Postsynaptic glutamate receptor delta family contributes to presynaptic terminal differentiation and establishment of synaptic transmission
    • Kuroyanagi T, Yokoyama M, Hirano T: Postsynaptic glutamate receptor delta family contributes to presynaptic terminal differentiation and establishment of synaptic transmission. Proc Natl Acad Sci USA 2009; 106: 4912-4916.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 4912-4916
    • Kuroyanagi, T.1    Yokoyama, M.2    Hirano, T.3
  • 53
    • 84855766751 scopus 로고    scopus 로고
    • Induction of excitatory and inhibitory presynaptic differentiation by GluD1
    • Ryu K, Yokoyama M, Yamashita M, Hirano T: Induction of excitatory and inhibitory presynaptic differentiation by GluD1. Biochem Biophys Res Commun 2012; 417: 157-161.
    • (2012) Biochem Biophys Res Commun , vol.417 , pp. 157-161
    • Ryu, K.1    Yokoyama, M.2    Yamashita, M.3    Hirano, T.4
  • 54
    • 65349122404 scopus 로고    scopus 로고
    • Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: Evidence for disruption of neuronal networks
    • Belichenko PV, Wright EE, Belichenko NP et al: Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks. J Comp Neurol 2009; 514: 240-258.
    • (2009) J Comp Neurol , vol.514 , pp. 240-258
    • Belichenko, P.V.1    Wright, E.E.2    Belichenko, N.P.3
  • 55
    • 67649487935 scopus 로고    scopus 로고
    • Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations
    • Chapleau CA, Calfa GD, Lane MC et al: Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. Neurobiol Dis 2009; 35: 219-233.
    • (2009) Neurobiol Dis , vol.35 , pp. 219-233
    • Chapleau, C.A.1    Calfa, G.D.2    Lane, M.C.3
  • 56
    • 34748831111 scopus 로고    scopus 로고
    • MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
    • Chao HT, Zoghbi HY, Rosenmund C: MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron 2007; 56: 58-65.
    • (2007) Neuron , vol.56 , pp. 58-65
    • Chao, H.T.1    Zoghbi, H.Y.2    Rosenmund, C.3
  • 57
    • 80052650281 scopus 로고    scopus 로고
    • Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models
    • Gatto CL, Broadie K: Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models. Front Synaptic Neurosci 2010; 2: 4.
    • (2010) Front Synaptic Neurosci , vol.2 , pp. 4
    • Gatto, C.L.1    Broadie, K.2
  • 58
    • 24644490120 scopus 로고    scopus 로고
    • Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome
    • Dani VS, Chang Q, Maffei A, Turrigiano GG, Jaenisch R, Nelson SB: Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc Natl Acad Sci USA 2005; 102: 12560-12565.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 12560-12565
    • Dani, V.S.1    Chang, Q.2    Maffei, A.3    Turrigiano, G.G.4    Jaenisch, R.5    Nelson, S.B.6
  • 59
    • 38349055166 scopus 로고    scopus 로고
    • Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome
    • Medrihan L, Tantalaki E, Aramuni G et al: Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome. J Neurophysiol 2008; 99: 112-121.
    • (2008) J Neurophysiol , vol.99 , pp. 112-121
    • Medrihan, L.1    Tantalaki, E.2    Aramuni, G.3
  • 60
    • 77952973905 scopus 로고    scopus 로고
    • MeCP2 is required for normal development of GABAergic circuits in the thalamus
    • Zhang ZW, Zak JD, Liu H: MeCP2 is required for normal development of GABAergic circuits in the thalamus. J Neurophysiol 2010; 103: 2470-2481.
    • (2010) J Neurophysiol , vol.103 , pp. 2470-2481
    • Zhang, Z.W.1    Zak, J.D.2    Liu, H.3
  • 61
    • 0034927925 scopus 로고    scopus 로고
    • Neurotransmitters as early signals for central nervous system development
    • Nguyen L, Rigo JM, Rocher V et al: Neurotransmitters as early signals for central nervous system development. Cell Tissue Res 2001; 305: 187-202.
    • (2001) Cell Tissue Res , vol.305 , pp. 187-202
    • Nguyen, L.1    Rigo, J.M.2    Rocher, V.3
  • 62
    • 34249087739 scopus 로고    scopus 로고
    • Neurotransmitters and brain maturation: Early paracrine actions of GABA and glutamate modulate neuronal migration
    • Manent JB, Represa A: Neurotransmitters and brain maturation: early paracrine actions of GABA and glutamate modulate neuronal migration. Neuroscientist 2007; 13: 268-279.
    • (2007) Neuroscientist , vol.13 , pp. 268-279
    • Manent, J.B.1    Represa, A.2
  • 63
    • 79955695659 scopus 로고    scopus 로고
    • Inflammation in epilepsy: Clinical observations
    • Aronica E, Crino PB: Inflammation in epilepsy: clinical observations. Epilepsia 2011; 52(Suppl 3): 26-32.
    • (2011) Epilepsia , vol.52 , pp. 26-32
    • Aronica, E.1    Crino, P.B.2
  • 64
    • 72149095158 scopus 로고    scopus 로고
    • CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
    • Zweier C, de Jong EK, Zweier M et al: CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 2009; 85: 655-666.
    • (2009) Am J Hum Genet , vol.85 , pp. 655-666
    • Zweier, C.1    De Jong, E.K.2    Zweier, M.3
  • 65
    • 84862658331 scopus 로고    scopus 로고
    • Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome
    • Marangi G, Ricciardi S, Orteschi D et al: Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. Am J Med Genet A 2012; 158A: 1604-1611.
    • (2012) Am J Med Genet A , vol.158 A , pp. 1604-1611
    • Marangi, G.1    Ricciardi, S.2    Orteschi, D.3
  • 66
    • 84874533079 scopus 로고    scopus 로고
    • Revealing the complexity of a monogenic disease: Rett syndrome exome sequencing
    • Grillo E, Lo Rizzo C, Bianciardi L et al: Revealing the complexity of a monogenic disease: Rett syndrome exome sequencing. PLoS One 2013; 8: e56599.
    • (2013) PLoS One , vol.8 , pp. e56599
    • Grillo, E.1    Lo Rizzo, C.2    Bianciardi, L.3
  • 67
    • 28144465326 scopus 로고    scopus 로고
    • Bipolar I disorder and schizophrenia: A 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios
    • Fallin MD, Lasseter VK, Avramopoulos D et al: Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet 2005; 77: 918-936.
    • (2005) Am J Hum Genet , vol.77 , pp. 918-936
    • Fallin, M.D.1    Lasseter, V.K.2    Avramopoulos, D.3
  • 68
    • 84856818976 scopus 로고    scopus 로고
    • Common variants in polygenic schizophrenia
    • Glessner JT, Hakonarson H: Common variants in polygenic schizophrenia. Genome Biol 2009; 10: 236.
    • (2009) Genome Biol , vol.10 , pp. 236
    • Glessner, J.T.1    Hakonarson, H.2
  • 69
    • 34249291269 scopus 로고    scopus 로고
    • A case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population
    • Guo SZ, Huang K, Shi YY et al: A case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population. Schizophr Res 2007; 93: 385-390.
    • (2007) Schizophr Res , vol.93 , pp. 385-390
    • Guo, S.Z.1    Huang, K.2    Shi, Y.Y.3
  • 70
    • 67349172925 scopus 로고    scopus 로고
    • Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter
    • Treutlein J, Muhleisen TW, Frank J et al: Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter. Schizophr Res 2009; 111: 123-130.
    • (2009) Schizophr Res , vol.111 , pp. 123-130
    • Treutlein, J.1    Muhleisen, T.W.2    Frank, J.3
  • 71
    • 84863279487 scopus 로고    scopus 로고
    • Deletion of glutamate delta-1 receptor in mouse leads to aberrant emotional and social behaviors
    • Yadav R, Gupta SC, Hillman BG, Bhatt JM, Stairs DJ, Dravid SM: Deletion of glutamate delta-1 receptor in mouse leads to aberrant emotional and social behaviors. PLoS One 2012; 7: e32969.
    • (2012) PLoS One , vol.7 , pp. e32969
    • Yadav, R.1    Gupta, S.C.2    Hillman, B.G.3    Bhatt, J.M.4    Stairs, D.J.5    Dravid, S.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.