메뉴 건너뛰기




Volumn 20, Issue 9, 2015, Pages 1069-1078

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR

Author keywords

[No Author keywords available]

Indexed keywords

CYTOPLASMIC FMR1 INTERACTING PROTEIN 1; FRAGILE X MENTAL RETARDATION PROTEIN; MAMMALIAN TARGET OF RAPAMYCIN; MICROTUBULE ASSOCIATED PROTEIN 2; RAPAMYCIN; TRANSCRIPTOME; UNCLASSIFIED DRUG; CYFIP1 PROTEIN, HUMAN; MTOR PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TARGET OF RAPAMYCIN KINASE;

EID: 84940440506     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2014.124     Document Type: Article
Times cited : (89)

References (79)
  • 2
    • 80051920294 scopus 로고    scopus 로고
    • Genetics of autism spectrum disorders
    • Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci 2011; 15: 409-416.
    • (2011) Trends Cogn Sci , vol.15 , pp. 409-416
    • Geschwind, D.H.1
  • 3
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459: 569-573.
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3    Korvatska, O.4    Kim, C.E.5    Wood, S.6
  • 4
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368-372.
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3    Anney, R.4    Merico, D.5    Regan, R.6
  • 6
    • 67349112868 scopus 로고    scopus 로고
    • Common genetic variants on 5p14.1 associate with autism spectrum disorders
    • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459: 528-533.
    • (2009) Nature , vol.459 , pp. 528-533
    • Wang, K.1    Zhang, H.2    Ma, D.3    Bucan, M.4    Glessner, J.T.5    Abrahams, B.S.6
  • 7
    • 70349956425 scopus 로고    scopus 로고
    • A genome-wide linkage and association scan reveals novel loci for autism
    • Weiss LA, Arking DEGene Discovery Project of Johns H, the Autism C, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461: 802-808.
    • (2009) Nature , vol.461 , pp. 802-808
    • Weiss, L.A.1
  • 8
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485: 237-241.
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1    Murtha, M.T.2    Gupta, A.R.3    Murdoch, J.D.4    Raubeson, M.J.5    Willsey, A.J.6
  • 9
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012; 485: 246-250.
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1    Vives, L.2    Girirajan, S.3    Karakoc, E.4    Krumm, N.5    Coe, B.P.6
  • 10
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012; 485: 242-245.
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1    Kou, Y.2    Liu, L.3    Ma'Ayan, A.4    Samocha, K.E.5    Sabo, A.6
  • 11
    • 84859066832 scopus 로고    scopus 로고
    • Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
    • Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G et al. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 2012; 8: e1002521.
    • (2012) PLoS Genet , vol.8 , pp. e1002521
    • Leblond, C.S.1    Heinrich, J.2    Delorme, R.3    Proepper, C.4    Betancur, C.5    Huguet, G.6
  • 12
    • 0027934165 scopus 로고
    • Brief report: Duplication of chromosome 15q11-13 in two individuals with autistic disorder
    • Baker P, Piven J, Schwartz S, Patil S. Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder. J Autism Dev Disord 1994; 24: 529-535.
    • (1994) J Autism Dev Disord , vol.24 , pp. 529-535
    • Baker, P.1    Piven, J.2    Schwartz, S.3    Patil, S.4
  • 13
    • 13444260705 scopus 로고    scopus 로고
    • Autism and 15q11-q13 disorders: Behavioral, genetic, and pathophysiological issues
    • Dykens EM, Sutcliffe JS, Levitt P. Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues. Ment Retard Dev Disabil Res Rev 2004; 10: 284-291.
    • (2004) Ment Retard Dev Disabil Res Rev , vol.10 , pp. 284-291
    • Dykens, E.M.1    Sutcliffe, J.S.2    Levitt, P.3
  • 14
    • 4644315735 scopus 로고    scopus 로고
    • Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
    • Bolton PF, Veltman MW, Weisblatt E, Holmes JR, Thomas NS, Youings SA et al. Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatr Genet 2004; 14: 131-137.
    • (2004) Psychiatr Genet , vol.14 , pp. 131-137
    • Bolton, P.F.1    Veltman, M.W.2    Weisblatt, E.3    Holmes, J.R.4    Thomas, N.S.5    Youings, S.A.6
  • 15
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
    • Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006; 11: 18-28.
    • (2006) Mol Psychiatry , vol.11 , pp. 18-28
    • Vorstman, J.A.1    Staal, W.G.2    Van Daalen, E.3    Van Engeland, H.4    Hochstenbach, P.F.5    Franke, L.6
  • 16
  • 18
    • 1542721515 scopus 로고    scopus 로고
    • BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications
    • Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG et al. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. J Med Genet 2004; 41: 175-182.
    • (2004) J Med Genet , vol.41 , pp. 175-182
    • Locke, D.P.1    Segraves, R.2    Nicholls, R.D.3    Schwartz, S.4    Pinkel, D.5    Albertson, D.G.6
  • 19
    • 33750128290 scopus 로고    scopus 로고
    • Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome
    • Bittel DC, Kibiryeva N, Butler MG. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics 2006; 118: e1276-e1283.
    • (2006) Pediatrics , vol.118 , pp. e1276-e1283
    • Bittel, D.C.1    Kibiryeva, N.2    Butler, M.G.3
  • 20
    • 1442323876 scopus 로고    scopus 로고
    • Behavioral differences among subjects with Prader-Willi syndrome and type i or type II deletion and maternal disomy
    • Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 2004; 113(3 Pt 1): 565-573.
    • (2004) Pediatrics , vol.113 , Issue.3 , pp. 565-573
    • Butler, M.G.1    Bittel, D.C.2    Kibiryeva, N.3    Talebizadeh, Z.4    Thompson, T.5
  • 21
    • 80052783934 scopus 로고    scopus 로고
    • Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome
    • Meguro-Horike M, Yasui DH, Powell W, Schroeder DI, Oshimura M, Lasalle JM et al. Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome. Hum Mol Genet 2011; 20: 3798-3810.
    • (2011) Hum Mol Genet , vol.20 , pp. 3798-3810
    • Meguro-Horike, M.1    Yasui, D.H.2    Powell, W.3    Schroeder, D.I.4    Oshimura, M.5    Lasalle, J.M.6
  • 23
    • 84902650872 scopus 로고    scopus 로고
    • Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2
    • Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT et al. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res 2014; 7: 355-362.
    • (2014) Autism Res , vol.7 , pp. 355-362
    • Chaste, P.1    Sanders, S.J.2    Mohan, K.N.3    Klei, L.4    Song, Y.5    Murtha, M.T.6
  • 24
    • 80054848222 scopus 로고    scopus 로고
    • Micro-deletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay
    • Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL et al. Micro-deletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet 2011; 130: 517-528.
    • (2011) Hum Genet , vol.130 , pp. 517-528
    • Burnside, R.D.1    Pasion, R.2    Mikhail, F.M.3    Carroll, A.J.4    Robin, N.H.5    Youngs, E.L.6
  • 25
    • 77952686118 scopus 로고    scopus 로고
    • A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
    • van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, de Jonge MV et al. A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet 2010; 153B: 960-966.
    • (2010) Am J Med Genet , vol.153 B , pp. 960-966
    • Van Der Zwaag, B.1    Staal, W.G.2    Hochstenbach, R.3    Poot, M.4    Spierenburg, H.A.5    De Jonge, M.V.6
  • 26
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010; 133(Pt 1): 23-32.
    • (2010) Brain , vol.133 , pp. 23-32
    • De Kovel, C.G.1    Trucks, H.2    Helbig, I.3    Mefford, H.C.4    Baker, C.5    Leu, C.6
  • 29
    • 0035902466 scopus 로고    scopus 로고
    • A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P
    • Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL. A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci USA 2001; 98: 8844-8849.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 8844-8849
    • Schenck, A.1    Bardoni, B.2    Moro, A.3    Bagni, C.4    Mandel, J.L.5
  • 30
    • 0035675794 scopus 로고    scopus 로고
    • The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders
    • Rogers SJ, Wehner DE, Hagerman R. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr 2001; 22: 409-417.
    • (2001) J Dev Behav Pediatr , vol.22 , pp. 409-417
    • Rogers, S.J.1    Wehner, D.E.2    Hagerman, R.3
  • 31
    • 34547731978 scopus 로고    scopus 로고
    • Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
    • Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M et al. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet 2007; 16: 1682-1698.
    • (2007) Hum Mol Genet , vol.16 , pp. 1682-1698
    • Nishimura, Y.1    Martin, C.L.2    Vazquez-Lopez, A.3    Spence, S.J.4    Alvarez-Retuerto, A.I.5    Sigman, M.6
  • 33
    • 0037523396 scopus 로고    scopus 로고
    • CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein
    • Schenck A, Bardoni B, Langmann C, Harden N, Mandel JL, Giangrande A. CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron 2003; 38: 887-898.
    • (2003) Neuron , vol.38 , pp. 887-898
    • Schenck, A.1    Bardoni, B.2    Langmann, C.3    Harden, N.4    Mandel, J.L.5    Giangrande, A.6
  • 34
    • 51549108502 scopus 로고    scopus 로고
    • The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
    • Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S et al. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell 2008; 134: 1042-1054.
    • (2008) Cell , vol.134 , pp. 1042-1054
    • Napoli, I.1    Mercaldo, V.2    Boyl, P.P.3    Eleuteri, B.4    Zalfa, F.5    De Rubeis, S.6
  • 35
    • 0031972690 scopus 로고    scopus 로고
    • P140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase
    • Kobayashi K, Kuroda S, Fukata M, Nakamura T, Nagase T, Nomura N et al. p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase. J Biol Chem 1998; 273: 291-295.
    • (1998) J Biol Chem , vol.273 , pp. 291-295
    • Kobayashi, K.1    Kuroda, S.2    Fukata, M.3    Nakamura, T.4    Nagase, T.5    Nomura, N.6
  • 36
    • 84884215045 scopus 로고    scopus 로고
    • CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation
    • De Rubeis S, Pasciuto E, Li KW, Fernandez E, Di Marino D, Buzzi A et al. CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation. Neuron 2013; 79: 1169-1182.
    • (2013) Neuron , vol.79 , pp. 1169-1182
    • De Rubeis, S.1    Pasciuto, E.2    Li, K.W.3    Fernandez, E.4    Di Marino, D.5    Buzzi, A.6
  • 37
    • 44449155412 scopus 로고    scopus 로고
    • An overview on the generation of BAC transgenic mice for neuroscience research
    • Chapter 5, Unit 5 20
    • Yang XW, Gong S. An overview on the generation of BAC transgenic mice for neuroscience research. Curr Protoc Neurosci 2005; Chapter 5, Unit 5 20.
    • (2005) Curr Protoc Neurosci
    • Yang, X.W.1    Gong, S.2
  • 38
    • 0030842624 scopus 로고    scopus 로고
    • Homologous recombination based modification in Escherichia coli and germline transmission in transgenic mice of a bacterial artificial chromosome
    • Yang XW, Model P, Heintz N. Homologous recombination based modification in Escherichia coli and germline transmission in transgenic mice of a bacterial artificial chromosome. Nat Biotechnol 1997; 15: 859-865.
    • (1997) Nat Biotechnol , vol.15 , pp. 859-865
    • Yang, X.W.1    Model, P.2    Heintz, N.3
  • 40
    • 0037158482 scopus 로고    scopus 로고
    • Dendritic spine and dendritic field characteristics of layer v pyramidal neurons in the visual cortex of fragile-X knockout mice
    • Irwin SA, Idupulapati M, Gilbert ME, Harris JB, Chakravarti AB, Rogers EJ et al. Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet 2002; 111: 140-146.
    • (2002) Am J Med Genet , vol.111 , pp. 140-146
    • Irwin, S.A.1    Idupulapati, M.2    Gilbert, M.E.3    Harris, J.B.4    Chakravarti, A.B.5    Rogers, E.J.6
  • 42
    • 0035863624 scopus 로고    scopus 로고
    • Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination
    • Irwin SA, Patel B, Idupulapati M, Harris JB, Crisostomo RA, Larsen BP et al. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet 2001; 98: 161-167.
    • (2001) Am J Med Genet , vol.98 , pp. 161-167
    • Irwin, S.A.1    Patel, B.2    Idupulapati, M.3    Harris, J.B.4    Crisostomo, R.A.5    Larsen, B.P.6
  • 43
    • 0034916325 scopus 로고    scopus 로고
    • The autism genetic resource exchange: A resource for the study of autism and related neu-ropsychiatric conditions
    • Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P et al. The autism genetic resource exchange: a resource for the study of autism and related neu-ropsychiatric conditions. Am J Hum Genet 2001; 69: 463-466.
    • (2001) Am J Hum Genet , vol.69 , pp. 463-466
    • Geschwind, D.H.1    Sowinski, J.2    Lord, C.3    Iversen, P.4    Shestack, J.5    Jones, P.6
  • 44
    • 67651233780 scopus 로고    scopus 로고
    • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
    • Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009; 5: e1000536.
    • (2009) PLoS Genet , vol.5 , pp. e1000536
    • Bucan, M.1    Abrahams, B.S.2    Wang, K.3    Glessner, J.T.4    Herman, E.I.5    Sonnenblick, L.I.6
  • 46
    • 79959262465 scopus 로고    scopus 로고
    • Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    • Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011; 474: 380-384.
    • (2011) Nature , vol.474 , pp. 380-384
    • Voineagu, I.1    Wang, X.2    Johnston, P.3    Lowe, J.K.4    Tian, Y.5    Horvath, S.6
  • 48
    • 80053292609 scopus 로고    scopus 로고
    • Protective role of the ubiquitin binding protein Tollip against the toxicity of polyglutamine-expansion proteins
    • Oguro A, Kubota H, Shimizu M, Ishiura S, Atomi Y. Protective role of the ubiquitin binding protein Tollip against the toxicity of polyglutamine-expansion proteins. Neurosci Lett 2011; 503: 234-239.
    • (2011) Neurosci Lett , vol.503 , pp. 234-239
    • Oguro, A.1    Kubota, H.2    Shimizu, M.3    Ishiura, S.4    Atomi, Y.5
  • 49
    • 67249133451 scopus 로고    scopus 로고
    • Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia
    • Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M et al. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet 2009; 18: 2452-2461.
    • (2009) Hum Mol Genet , vol.18 , pp. 2452-2461
    • Coppola, G.1    Marmolino, D.2    Lu, D.3    Wang, Q.4    Cnop, M.5    Rai, M.6
  • 50
    • 80054739524 scopus 로고    scopus 로고
    • Designing, performing, and interpreting a microarray-based gene expression study
    • Coppola G. Designing, performing, and interpreting a microarray-based gene expression study. Methods Mol Biol 2011; 793: 417-439.
    • (2011) Methods Mol Biol , vol.793 , pp. 417-439
    • Coppola, G.1
  • 51
    • 0036081355 scopus 로고    scopus 로고
    • Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
    • Edgar R, Domrachev M, Lash AE. Gene Expression Omnibus: NCBI gene expression and hybridization array data repository. Nucleic Acids Res 2002; 30: 207-210.
    • (2002) Nucleic Acids Res , vol.30 , pp. 207-210
    • Edgar, R.1    Domrachev, M.2    Lash, A.E.3
  • 52
    • 72049108920 scopus 로고    scopus 로고
    • Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
    • Hutsler JJ, Zhang H. Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders. Brain Res 2010; 1309: 83-94.
    • (2010) Brain Res , vol.1309 , pp. 83-94
    • Hutsler, J.J.1    Zhang, H.2
  • 53
    • 84873036632 scopus 로고    scopus 로고
    • Selective regulation of GluA subunit synthesis and AMPA receptor-mediated synaptic function and plasticity by the translation repressor 4E-BP2 in hippocampal pyramidal cells
    • Ran I, Gkogkas CG, Vasuta C, Tartas M, Khoutorsky A, Laplante I et al. Selective regulation of GluA subunit synthesis and AMPA receptor-mediated synaptic function and plasticity by the translation repressor 4E-BP2 in hippocampal pyramidal cells. J Neurosci 2013; 33: 1872-1886.
    • (2013) J Neurosci , vol.33 , pp. 1872-1886
    • Ran, I.1    Gkogkas, C.G.2    Vasuta, C.3    Tartas, M.4    Khoutorsky, A.5    Laplante, I.6
  • 54
    • 20044388939 scopus 로고    scopus 로고
    • Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome
    • Galvez R, Greenough WT. Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome. Am J Med Genet A 2005; 135: 155-160.
    • (2005) Am J Med Genet A , vol.135 , pp. 155-160
    • Galvez, R.1    Greenough, W.T.2
  • 55
    • 33746196574 scopus 로고    scopus 로고
    • Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond
    • Grossman AW, Aldridge GM, Weiler IJ, Greenough WT. Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond. J Neurosci 2006; 26: 7151-7155.
    • (2006) J Neurosci , vol.26 , pp. 7151-7155
    • Grossman, A.W.1    Aldridge, G.M.2    Weiler, I.J.3    Greenough, W.T.4
  • 56
    • 78449259794 scopus 로고    scopus 로고
    • Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome
    • Osterweil EK, Krueger DD, Reinhold K, Bear MF. Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. J Neurosci 2010; 30: 15616-15627.
    • (2010) J Neurosci , vol.30 , pp. 15616-15627
    • Osterweil, E.K.1    Krueger, D.D.2    Reinhold, K.3    Bear, M.F.4
  • 57
    • 20244367771 scopus 로고    scopus 로고
    • Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
    • Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005; 42: 318-321.
    • (2005) J Med Genet , vol.42 , pp. 318-321
    • Butler, M.G.1    Dasouki, M.J.2    Zhou, X.P.3    Talebizadeh, Z.4    Brown, M.5    Takahashi, T.N.6
  • 58
    • 84865508373 scopus 로고    scopus 로고
    • Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
    • Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM et al. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature 2012; 488: 647-651.
    • (2012) Nature , vol.488 , pp. 647-651
    • Tsai, P.T.1    Hull, C.2    Chu, Y.3    Greene-Colozzi, E.4    Sadowski, A.R.5    Leech, J.M.6
  • 59
    • 33746892681 scopus 로고    scopus 로고
    • Hippocampal pyramidal cells in adult Fmr1 knockout mice exhibit an immature-appearing profile of dendritic spines
    • Grossman AW, Elisseou NM, McKinney BC, Greenough WT. Hippocampal pyramidal cells in adult Fmr1 knockout mice exhibit an immature-appearing profile of dendritic spines. Brain Res 2006; 1084: 158-164.
    • (2006) Brain Res , vol.1084 , pp. 158-164
    • Grossman, A.W.1    Elisseou, N.M.2    McKinney, B.C.3    Greenough, W.T.4
  • 60
    • 84856668811 scopus 로고    scopus 로고
    • PTEN regulation of local and long-range connections in mouse auditory cortex
    • Xiong Q, Oviedo HV, Trotman LC, Zador AM. PTEN regulation of local and long-range connections in mouse auditory cortex. J Neurosci 2012; 32: 1643-1652.
    • (2012) J Neurosci , vol.32 , pp. 1643-1652
    • Xiong, Q.1    Oviedo, H.V.2    Trotman, L.C.3    Zador, A.M.4
  • 61
    • 34247116555 scopus 로고    scopus 로고
    • Deletion of alpha-neurexins does not cause a major impairment of axonal pathfinding or synapse formation
    • Dudanova I, Tabuchi K, Rohlmann A, Sudhof TC, Missler M. Deletion of alpha-neurexins does not cause a major impairment of axonal pathfinding or synapse formation. J Comp Neurol 2007; 502: 261-274.
    • (2007) J Comp Neurol , vol.502 , pp. 261-274
    • Dudanova, I.1    Tabuchi, K.2    Rohlmann, A.3    Sudhof, T.C.4    Missler, M.5
  • 62
    • 75149113269 scopus 로고    scopus 로고
    • Overexpression of the cell adhesion protein neuroligin-1 induces learning deficits and impairs synaptic plasticity by altering the ratio of excitation to inhibition in the hippocampus
    • Dahlhaus R, Hines RM, Eadie BD, Kannangara TS, Hines DJ, Brown CE et al. Overexpression of the cell adhesion protein neuroligin-1 induces learning deficits and impairs synaptic plasticity by altering the ratio of excitation to inhibition in the hippocampus. Hippocampus 2010; 20: 305-322.
    • (2010) Hippocampus , vol.20 , pp. 305-322
    • Dahlhaus, R.1    Hines, R.M.2    Eadie, B.D.3    Kannangara, T.S.4    Hines, D.J.5    Brown, C.E.6
  • 63
    • 80052389009 scopus 로고    scopus 로고
    • Regulation of molecular pathways in the Fragile X Syndrome: Insights into Autism Spectrum Disorders
    • De Rubeis S, Bagni C. Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders. J Neurodev Disord 2011; 3: 257-269.
    • (2011) J Neurodev Disord , vol.3 , pp. 257-269
    • De Rubeis, S.1    Bagni, C.2
  • 64
    • 79960779323 scopus 로고    scopus 로고
    • FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
    • Darnell JC, Van Driesche SJ, Zhang C, Hung KY, Mele A, Fraser CE et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 2011; 146: 247-261.
    • (2011) Cell , vol.146 , pp. 247-261
    • Darnell, J.C.1    Van Driesche, S.J.2    Zhang, C.3    Hung, K.Y.4    Mele, A.5    Fraser, C.E.6
  • 66
    • 84867736998 scopus 로고    scopus 로고
    • Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice
    • Bhattacharya A, Kaphzan H, Alvarez-Dieppa AC, Murphy JP, Pierre P, Klann E. Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. Neuron 2012; 76: 325-337.
    • (2012) Neuron , vol.76 , pp. 325-337
    • Bhattacharya, A.1    Kaphzan, H.2    Alvarez-Dieppa, A.C.3    Murphy, J.P.4    Pierre, P.5    Klann, E.6
  • 67
    • 62149104335 scopus 로고    scopus 로고
    • The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
    • Varga EA, Pastore M, Prior T, Herman GE, McBride KL. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med 2009; 11: 111-117.
    • (2009) Genet Med , vol.11 , pp. 111-117
    • Varga, E.A.1    Pastore, M.2    Prior, T.3    Herman, G.E.4    McBride, K.L.5
  • 70
    • 0242268407 scopus 로고    scopus 로고
    • MTor is required for hypertrophy of Pten-deficient neuronal soma in vivo
    • Kwon CH, Zhu X, Zhang J, Baker SJ. mTor is required for hypertrophy of Pten-deficient neuronal soma in vivo. Proc Natl Acad Sci USA 2003; 100: 12923-12928.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 12923-12928
    • Kwon, C.H.1    Zhu, X.2    Zhang, J.3    Baker, S.J.4
  • 71
    • 81055126193 scopus 로고    scopus 로고
    • Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
    • Goto J, Talos DM, Klein P, Qin W, Chekaluk YI, Anderl S et al. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci USA 2011; 108: E1070-E1079.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. E1070-E1079
    • Goto, J.1    Talos, D.M.2    Klein, P.3    Qin, W.4    Chekaluk, Y.I.5    Anderl, S.6
  • 72
    • 81955164876 scopus 로고    scopus 로고
    • Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin
    • Carson RP, Van Nielen DL, Winzenburger PA, Ess KC. Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin. Neuro-biol Dis 2011; 45: 369-380.
    • (2011) Neuro-biol Dis , vol.45 , pp. 369-380
    • Carson, R.P.1    Van Nielen, D.L.2    Winzenburger, P.A.3    Ess, K.C.4
  • 73
    • 84897043671 scopus 로고    scopus 로고
    • The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines
    • Pathania M, Davenport EC, Muir J, Sheehan DF, Lopez-Domenech G, Kittler JT. The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines. Transl Psychiatry 2014; 4: e374.
    • (2014) Transl Psychiatry , vol.4 , pp. e374
    • Pathania, M.1    Davenport, E.C.2    Muir, J.3    Sheehan, D.F.4    Lopez-Domenech, G.5    Kittler, J.T.6
  • 75
    • 84861075586 scopus 로고    scopus 로고
    • KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
    • Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S et al. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 2012; 485: 363-367.
    • (2012) Nature , vol.485 , pp. 363-367
    • Golzio, C.1    Willer, J.2    Talkowski, M.E.3    Oh, E.C.4    Taniguchi, Y.5    Jacquemont, S.6
  • 76
  • 77
    • 80053920983 scopus 로고    scopus 로고
    • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
    • Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011; 478: 97-102.
    • (2011) Nature , vol.478 , pp. 97-102
    • Jacquemont, S.1    Reymond, A.2    Zufferey, F.3    Harewood, L.4    Walters, R.G.5    Kutalik, Z.6
  • 78
    • 84928103101 scopus 로고    scopus 로고
    • Further evidence of contrasting phenotypes caused by reciprocal deletions and duplications: Duplication of NSD1 causes growth retardation and microcephaly
    • Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M et al. Further evidence of contrasting phenotypes caused by reciprocal deletions and duplications: duplication of NSD1 causes growth retardation and microcephaly. Mol Syndromol 2013; 3: 247-254.
    • (2013) Mol Syndromol , vol.3 , pp. 247-254
    • Rosenfeld, J.A.1    Kim, K.H.2    Angle, B.3    Troxell, R.4    Gorski, J.L.5    Westemeyer, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.