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Volumn 321, Issue , 2016, Pages 3-23

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links

Author keywords

Autism mouse models; Fmr1; Mecp2; Pten; Shank3; Ube3a

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; FRAGILE X MENTAL RETARDATION PROTEIN; NEUREXIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; TUBERIN;

EID: 84953432659     PISSN: 03064522     EISSN: 18737544     Source Type: Journal    
DOI: 10.1016/j.neuroscience.2015.12.040     Document Type: Review
Times cited : (59)

References (243)
  • 4
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999, 23:185-188.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 5
    • 84894377843 scopus 로고    scopus 로고
    • Analysis of FMR1 deletion in a subpopulation of post-mitotic neurons in mouse cortex and hippocampus
    • Amiri A., Sanchez-Ortiz E., Cho W., Birnbaum S.G., Xu J., McKay R.M., Parada L.F. Analysis of FMR1 deletion in a subpopulation of post-mitotic neurons in mouse cortex and hippocampus. Autism Res 2014, 7:60-71.
    • (2014) Autism Res , vol.7 , pp. 60-71
    • Amiri, A.1    Sanchez-Ortiz, E.2    Cho, W.3    Birnbaum, S.G.4    Xu, J.5    McKay, R.M.6    Parada, L.F.7
  • 6
    • 84933678850 scopus 로고    scopus 로고
    • Studying autism in rodent models: reconciling endophenotypes with comorbidities
    • Argyropoulos A., Gilby K.L., Hill-Yardin E.L. Studying autism in rodent models: reconciling endophenotypes with comorbidities. Front Hum Neurosci 2013, 7:417.
    • (2013) Front Hum Neurosci , vol.7 , pp. 417
    • Argyropoulos, A.1    Gilby, K.L.2    Hill-Yardin, E.L.3
  • 9
    • 29144440149 scopus 로고    scopus 로고
    • Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome
    • Asaka Y., Jugloff D.G., Zhang L., Eubanks J.H., Fitzsimonds R.M. Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis 2006, 21:217-227.
    • (2006) Neurobiol Dis , vol.21 , pp. 217-227
    • Asaka, Y.1    Jugloff, D.G.2    Zhang, L.3    Eubanks, J.H.4    Fitzsimonds, R.M.5
  • 10
    • 82555196668 scopus 로고    scopus 로고
    • Mutations causing syndromic autism define an axis of synaptic pathophysiology
    • Auerbach B.D., Osterweil E.K., Bear M.F. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 2011, 480:63-68.
    • (2011) Nature , vol.480 , pp. 63-68
    • Auerbach, B.D.1    Osterweil, E.K.2    Bear, M.F.3
  • 11
    • 84878020681 scopus 로고    scopus 로고
    • A matter of balance: role of neurexin and neuroligin at the synapse
    • Bang M.L., Owczarek S. A matter of balance: role of neurexin and neuroligin at the synapse. Neurochem Res 2013, 38:1174-1189.
    • (2013) Neurochem Res , vol.38 , pp. 1174-1189
    • Bang, M.L.1    Owczarek, S.2
  • 12
    • 53849110899 scopus 로고    scopus 로고
    • Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function
    • Bassell G.J., Warren S.T. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 2008, 60:201-214.
    • (2008) Neuron , vol.60 , pp. 201-214
    • Bassell, G.J.1    Warren, S.T.2
  • 13
    • 79959289977 scopus 로고    scopus 로고
    • Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function
    • Bateup H.S., Takasaki K.T., Saulnier J.L., Denefrio C.L., Sabatini B.L. Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function. J Neurosci 2011, 31:8862-8869.
    • (2011) J Neurosci , vol.31 , pp. 8862-8869
    • Bateup, H.S.1    Takasaki, K.T.2    Saulnier, J.L.3    Denefrio, C.L.4    Sabatini, B.L.5
  • 14
    • 3042647610 scopus 로고    scopus 로고
    • The mGluR theory of fragile X mental retardation
    • Bear M.F., Huber K.M., Warren S.T. The mGluR theory of fragile X mental retardation. Trends Neurosci 2004, 27:370-377.
    • (2004) Trends Neurosci , vol.27 , pp. 370-377
    • Bear, M.F.1    Huber, K.M.2    Warren, S.T.3
  • 15
    • 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 P.V., Wright E.E., Belichenko N.P., Masliah E., Li H.H., Mobley W.C., Francke U. 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    Masliah, E.4    Li, H.H.5    Mobley, W.C.6    Francke, U.7
  • 17
    • 84870317999 scopus 로고    scopus 로고
    • Criteria of validity for animal models of psychiatric disorders: focus on anxiety disorders and depression
    • 9-5380-1-9
    • Belzung C., Lemoine M. Criteria of validity for animal models of psychiatric disorders: focus on anxiety disorders and depression. Biol Mood Anxiety Disord 2011, 1. 9-5380-1-9.
    • (2011) Biol Mood Anxiety Disord , vol.1
    • Belzung, C.1    Lemoine, M.2
  • 18
    • 67249150482 scopus 로고    scopus 로고
    • Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
    • Ben-Shachar S., Chahrour M., Thaller C., Shaw C.A., Zoghbi H.Y. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet 2009, 18(13):2431-2442.
    • (2009) Hum Mol Genet , vol.18 , Issue.13 , pp. 2431-2442
    • Ben-Shachar, S.1    Chahrour, M.2    Thaller, C.3    Shaw, C.A.4    Zoghbi, H.Y.5
  • 20
    • 84949255396 scopus 로고    scopus 로고
    • Overview of mouse models of autism spectrum disorders
    • Bey A.L., Jiang Y.H. Overview of mouse models of autism spectrum disorders. Curr Protoc Pharmacol 2014, 66:5.66.1-5.66.26.
    • (2014) Curr Protoc Pharmacol , vol.66 , pp. 5.66.1-5.66.26
    • Bey, A.L.1    Jiang, Y.H.2
  • 25
    • 84899579632 scopus 로고    scopus 로고
    • Fragile X syndrome neurobiology translates into rational therapy
    • Braat S., Kooy R.F. Fragile X syndrome neurobiology translates into rational therapy. Drug Discovery Today 2014, 19:510-519.
    • (2014) Drug Discovery Today , vol.19 , pp. 510-519
    • Braat, S.1    Kooy, R.F.2
  • 26
    • 84908384229 scopus 로고    scopus 로고
    • Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials
    • Braat S., Kooy R.F. Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials. Neuropharmacology 2015, 88:48-54.
    • (2015) Neuropharmacology , vol.88 , pp. 48-54
    • Braat, S.1    Kooy, R.F.2
  • 29
    • 84905180333 scopus 로고    scopus 로고
    • Costs of autism spectrum disorders in the United Kingdom and the United States
    • Buescher A.V., Cidav Z., Knapp M., Mandell D.S. Costs of autism spectrum disorders in the United Kingdom and the United States. JAMA Pediatr 2014, 168:721-728.
    • (2014) JAMA Pediatr , vol.168 , pp. 721-728
    • Buescher, A.V.1    Cidav, Z.2    Knapp, M.3    Mandell, D.S.4
  • 32
    • 84887090057 scopus 로고    scopus 로고
    • Rare variants analysis of neurexin-1beta in autism reveals a novel start codon mutation affecting protein levels at synapses
    • Camacho-Garcia R.J., Hervas A., Toma C., Balmana N., Cormand B., Martinez-Mir A., Scholl F.G. Rare variants analysis of neurexin-1beta in autism reveals a novel start codon mutation affecting protein levels at synapses. Psychiatr Genet 2013, 23:262-266.
    • (2013) Psychiatr Genet , vol.23 , pp. 262-266
    • Camacho-Garcia, R.J.1    Hervas, A.2    Toma, C.3    Balmana, N.4    Cormand, B.5    Martinez-Mir, A.6    Scholl, F.G.7
  • 35
    • 85002674056 scopus 로고    scopus 로고
    • Reduced inhibitory gate in the barrel cortex of Neuroligin3R451C knock-in mice, an animal model of autism spectrum disorders
    • Cellot G., Cherubini E. Reduced inhibitory gate in the barrel cortex of Neuroligin3R451C knock-in mice, an animal model of autism spectrum disorders. Physiol Rep 2014, 2. 10.14814/phy2.12077.
    • (2014) Physiol Rep , vol.2
    • Cellot, G.1    Cherubini, E.2
  • 36
    • 45849105557 scopus 로고    scopus 로고
    • MeCP2, a key contributor to neurological disease, activates and represses transcription
    • Chahrour M., Jung S.Y., Shaw C., Zhou X., Wong S.T., Qin J., Zoghbi H.Y. 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    Zhou, X.4    Wong, S.T.5    Qin, J.6    Zoghbi, H.Y.7
  • 37
    • 31444434393 scopus 로고    scopus 로고
    • The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
    • Chang Q., Khare G., Dani V., Nelson S., Jaenisch R. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 2006, 49:341-348.
    • (2006) Neuron , vol.49 , pp. 341-348
    • Chang, Q.1    Khare, G.2    Dani, V.3    Nelson, S.4    Jaenisch, R.5
  • 39
    • 34748831111 scopus 로고    scopus 로고
    • MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
    • Chao H.T., Zoghbi H.Y., 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
  • 41
    • 84864954350 scopus 로고    scopus 로고
    • Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage
    • Chapleau C.A., Boggio E.M., Calfa G., Percy A.K., Giustetto M., Pozzo-Miller L. Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage. Neural Plast 2012, 2012:976164.
    • (2012) Neural Plast , vol.2012 , pp. 976164
    • Chapleau, C.A.1    Boggio, E.M.2    Calfa, G.3    Percy, A.K.4    Giustetto, M.5    Pozzo-Miller, L.6
  • 43
    • 0035093830 scopus 로고    scopus 로고
    • Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
    • Chen R.Z., Akbarian S., Tudor M., Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 2001, 27:327-331.
    • (2001) Nat Genet , vol.27 , pp. 327-331
    • Chen, R.Z.1    Akbarian, S.2    Tudor, M.3    Jaenisch, R.4
  • 44
    • 13544269142 scopus 로고    scopus 로고
    • Control of excitatory and inhibitory synapse formation by neuroligins
    • Chih B., Engelman H., Scheiffele P. Control of excitatory and inhibitory synapse formation by neuroligins. Science 2005, 307:1324-1328.
    • (2005) Science , vol.307 , pp. 1324-1328
    • Chih, B.1    Engelman, H.2    Scheiffele, P.3
  • 45
    • 84876775572 scopus 로고    scopus 로고
    • Synaptic plasticity in mouse models of autism spectrum disorders
    • Chung L., Bey A.L., Jiang Y.H. Synaptic plasticity in mouse models of autism spectrum disorders. Korean J Physiol Pharmacol 2012, 16:369-378.
    • (2012) Korean J Physiol Pharmacol , vol.16 , pp. 369-378
    • Chung, L.1    Bey, A.L.2    Jiang, Y.H.3
  • 48
    • 0038601952 scopus 로고    scopus 로고
    • Evidence of brain overgrowth in the first year of life in autism
    • Courchesne E., Carper R., Akshoomoff N. Evidence of brain overgrowth in the first year of life in autism. JAMA 2003, 290:337-344.
    • (2003) JAMA , vol.290 , pp. 337-344
    • Courchesne, E.1    Carper, R.2    Akshoomoff, N.3
  • 49
    • 79952313504 scopus 로고    scopus 로고
    • Brain growth across the life span in autism: age-specific changes in anatomical pathology
    • Courchesne E., Campbell K., Solso S. Brain growth across the life span in autism: age-specific changes in anatomical pathology. Brain Res 2011, 1380:138-145.
    • (2011) Brain Res , vol.1380 , pp. 138-145
    • Courchesne, E.1    Campbell, K.2    Solso, S.3
  • 50
    • 84878867454 scopus 로고    scopus 로고
    • Evolving neurobiology of tuberous sclerosis complex
    • Crino P.B. Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol 2013, 125:317-332.
    • (2013) Acta Neuropathol , vol.125 , pp. 317-332
    • Crino, P.B.1
  • 51
    • 77953528456 scopus 로고    scopus 로고
    • Delayed stabilization of dendritic spines in fragile X mice
    • Cruz-Martin A., Crespo M., Portera-Cailliau C. Delayed stabilization of dendritic spines in fragile X mice. J Neurosci 2010, 30:7793-7803.
    • (2010) J Neurosci , vol.30 , pp. 7793-7803
    • Cruz-Martin, A.1    Crespo, M.2    Portera-Cailliau, C.3
  • 53
    • 77951897264 scopus 로고    scopus 로고
    • Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome
    • Dahlhaus R., El-Husseini A. Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome. Behav Brain Res 2010, 208:96-105.
    • (2010) Behav Brain Res , vol.208 , pp. 96-105
    • Dahlhaus, R.1    El-Husseini, A.2
  • 54
    • 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 V.S., Chang Q., Maffei A., Turrigiano G.G., Jaenisch R., Nelson S.B. 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
  • 56
    • 84885463836 scopus 로고    scopus 로고
    • Nlgn4 knockout induces network hypo-excitability in juvenile mouse somatosensory cortex in vitro
    • Delattre V., La Mendola D., Meystre J., Markram H., Markram K. Nlgn4 knockout induces network hypo-excitability in juvenile mouse somatosensory cortex in vitro. Sci Rep 2013, 3:2897.
    • (2013) Sci Rep , vol.3 , pp. 2897
    • Delattre, V.1    La Mendola, D.2    Meystre, J.3    Markram, H.4    Markram, K.5
  • 57
    • 84898957499 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010.
    • Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators, Centers for Disease Control and Prevention (CDC) (2014) Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ 63:1-21.
    • (2014) MMWR Surveill Summ , vol.63 , pp. 1-21
  • 58
    • 84862493260 scopus 로고    scopus 로고
    • Genetic architecture in autism spectrum disorder
    • Devlin B., Scherer S.W. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev 2012, 22:229-237.
    • (2012) Curr Opin Genet Dev , vol.22 , pp. 229-237
    • Devlin, B.1    Scherer, S.W.2
  • 59
    • 0031870959 scopus 로고    scopus 로고
    • Pten is essential for embryonic development and tumour suppression
    • Di Cristofano A., Pesce B., Cordon-Cardo C., Pandolfi P.P. Pten is essential for embryonic development and tumour suppression. Nat Genet 1998, 19:348-355.
    • (1998) Nat Genet , vol.19 , pp. 348-355
    • Di Cristofano, A.1    Pesce, B.2    Cordon-Cardo, C.3    Pandolfi, P.P.4
  • 61
    • 37549057995 scopus 로고    scopus 로고
    • The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
    • Dindot S.V., Antalffy B.A., Bhattacharjee M.B., Beaudet A.L. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet 2008, 17:111-118.
    • (2008) Hum Mol Genet , vol.17 , pp. 111-118
    • Dindot, S.V.1    Antalffy, B.A.2    Bhattacharjee, M.B.3    Beaudet, A.L.4
  • 63
    • 84884955739 scopus 로고    scopus 로고
    • Shank3 deficiency induces NMDA receptor hypofunction via an actin-dependent mechanism
    • Duffney L.J., Wei J., Cheng J., Liu W., Smith K.R., Kittler J.T., Yan Z. Shank3 deficiency induces NMDA receptor hypofunction via an actin-dependent mechanism. J Neurosci 2013, 33:15767-15778.
    • (2013) J Neurosci , vol.33 , pp. 15767-15778
    • Duffney, L.J.1    Wei, J.2    Cheng, J.3    Liu, W.4    Smith, K.R.5    Kittler, J.T.6    Yan, Z.7
  • 67
    • 0042316755 scopus 로고    scopus 로고
    • PTEN: one gene, many syndromes
    • Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003, 22:183-198.
    • (2003) Hum Mutat , vol.22 , pp. 183-198
    • Eng, C.1
  • 68
    • 70449686185 scopus 로고    scopus 로고
    • Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
    • Etherton M.R., Blaiss C.A., Powell C.M., Sudhof T.C. Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc Natl Acad Sci USA 2009, 106:17998-18003.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 17998-18003
    • Etherton, M.R.1    Blaiss, C.A.2    Powell, C.M.3    Sudhof, T.C.4
  • 70
    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16
    • European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993, 75:1305-1315.
    • (1993) Cell , vol.75 , pp. 1305-1315
  • 71
    • 84886599867 scopus 로고    scopus 로고
    • The autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations
    • Ey E., Torquet N., Le Sourd A.M., Leblond C.S., Boeckers T.M., Faure P., Bourgeron T. The autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations. Behav Brain Res 2013, 256:677-689.
    • (2013) Behav Brain Res , vol.256 , pp. 677-689
    • Ey, E.1    Torquet, N.2    Le Sourd, A.M.3    Leblond, C.S.4    Boeckers, T.M.5    Faure, P.6    Bourgeron, T.7
  • 72
    • 84891820788 scopus 로고    scopus 로고
    • Amygdala inputs to the ventral hippocampus bidirectionally modulate social behavior
    • Felix-Ortiz A.C., Tye K.M. Amygdala inputs to the ventral hippocampus bidirectionally modulate social behavior. J Neurosci 2014, 34:586-595.
    • (2014) J Neurosci , vol.34 , pp. 586-595
    • Felix-Ortiz, A.C.1    Tye, K.M.2
  • 74
    • 0037097863 scopus 로고    scopus 로고
    • Mammalian cell size is controlled by mTOR and its downstream targets S6K1 and 4EBP1/eIF4E
    • Fingar D.C., Salama S., Tsou C., Harlow E., Blenis J. Mammalian cell size is controlled by mTOR and its downstream targets S6K1 and 4EBP1/eIF4E. Genes Dev 2002, 16:1472-1487.
    • (2002) Genes Dev , vol.16 , pp. 1472-1487
    • Fingar, D.C.1    Salama, S.2    Tsou, C.3    Harlow, E.4    Blenis, J.5
  • 75
    • 84877336575 scopus 로고    scopus 로고
    • Autism-associated neuroligin-3 mutations commonly disrupt tonic endocannabinoid signaling
    • Foldy C., Malenka R.C., Sudhof T.C. Autism-associated neuroligin-3 mutations commonly disrupt tonic endocannabinoid signaling. Neuron 2013, 78:498-509.
    • (2013) Neuron , vol.78 , pp. 498-509
    • Foldy, C.1    Malenka, R.C.2    Sudhof, T.C.3
  • 77
    • 37849027524 scopus 로고    scopus 로고
    • Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities
    • Fraser M.M., Bayazitov I.T., Zakharenko S.S., Baker S.J. Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities. Neuroscience 2008, 151:476-488.
    • (2008) Neuroscience , vol.151 , pp. 476-488
    • Fraser, M.M.1    Bayazitov, I.T.2    Zakharenko, S.S.3    Baker, S.J.4
  • 78
    • 20344405210 scopus 로고    scopus 로고
    • Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice
    • Fukuda T., Itoh M., Ichikawa T., Washiyama K., Goto Y. Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice. J Neuropathol Exp Neurol 2005, 64:537-544.
    • (2005) J Neuropathol Exp Neurol , vol.64 , pp. 537-544
    • Fukuda, T.1    Itoh, M.2    Ichikawa, T.3    Washiyama, K.4    Goto, Y.5
  • 80
    • 33344471941 scopus 로고    scopus 로고
    • Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice
    • Gemelli T., Berton O., Nelson E.D., Perrotti L.I., Jaenisch R., Monteggia L.M. Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol Psychiatry 2006, 59:468-476.
    • (2006) Biol Psychiatry , vol.59 , pp. 468-476
    • Gemelli, T.1    Berton, O.2    Nelson, E.D.3    Perrotti, L.I.4    Jaenisch, R.5    Monteggia, L.M.6
  • 81
    • 33846921789 scopus 로고    scopus 로고
    • Autism spectrum disorders: developmental disconnection syndromes
    • Geschwind D.H., Levitt P. Autism spectrum disorders: developmental disconnection syndromes. Curr Opin Neurobiol 2007, 17:103-111.
    • (2007) Curr Opin Neurobiol , vol.17 , pp. 103-111
    • Geschwind, D.H.1    Levitt, P.2
  • 85
    • 11144352245 scopus 로고    scopus 로고
    • Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins
    • Graf E.R., Zhang X., Jin S.X., Linhoff M.W., Craig A.M. Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. Cell 2004, 119:1013-1026.
    • (2004) Cell , vol.119 , pp. 1013-1026
    • Graf, E.R.1    Zhang, X.2    Jin, S.X.3    Linhoff, M.W.4    Craig, A.M.5
  • 86
    • 84879522237 scopus 로고    scopus 로고
    • Altered social behaviours in neurexin 1alpha knockout mice resemble core symptoms in neurodevelopmental disorders
    • Grayton H.M., Missler M., Collier D.A., Fernandes C. Altered social behaviours in neurexin 1alpha knockout mice resemble core symptoms in neurodevelopmental disorders. PLoS One 2013, 8:e67114.
    • (2013) PLoS One , vol.8
    • Grayton, H.M.1    Missler, M.2    Collier, D.A.3    Fernandes, C.4
  • 89
    • 0035094767 scopus 로고    scopus 로고
    • A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • Guy J., Hendrich B., Holmes M., Martin J.E., Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001, 27:322-326.
    • (2001) Nat Genet , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 90
    • 33847266846 scopus 로고    scopus 로고
    • Reversal of neurological defects in a mouse model of Rett syndrome
    • Guy J., Gan J., Selfridge J., Cobb S., Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007, 315:1143-1147.
    • (2007) Science , vol.315 , pp. 1143-1147
    • Guy, J.1    Gan, J.2    Selfridge, J.3    Cobb, S.4    Bird, A.5
  • 91
    • 79953709471 scopus 로고    scopus 로고
    • Fragile X and autism: intertwined at the molecular level leading to targeted treatments
    • 12-2392-1-12
    • Hagerman R., Hoem G., Hagerman P. Fragile X and autism: intertwined at the molecular level leading to targeted treatments. Mol Autism 2010, 1. 12-2392-1-12.
    • (2010) Mol Autism , vol.1
    • Hagerman, R.1    Hoem, G.2    Hagerman, P.3
  • 94
    • 84896115822 scopus 로고    scopus 로고
    • Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome
    • Hayrapetyan V., Castro S., Sukharnikova T., Yu C., Cao X., Jiang Y.H., Yin H.H. Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome. Eur J Neurosci 2014, 39:1018-1025.
    • (2014) Eur J Neurosci , vol.39 , pp. 1018-1025
    • Hayrapetyan, V.1    Castro, S.2    Sukharnikova, T.3    Yu, C.4    Cao, X.5    Jiang, Y.H.6    Yin, H.H.7
  • 95
    • 84884289158 scopus 로고    scopus 로고
    • The trouble with spines in fragile X syndrome: density, maturity and plasticity
    • He C.X., Portera-Cailliau C. The trouble with spines in fragile X syndrome: density, maturity and plasticity. Neuroscience 2013, 251:120-128.
    • (2013) Neuroscience , vol.251 , pp. 120-128
    • He, C.X.1    Portera-Cailliau, C.2
  • 96
    • 75749114797 scopus 로고    scopus 로고
    • MTOR signaling: at the crossroads of plasticity, memory and disease
    • Hoeffer C.A., Klann E. MTOR signaling: at the crossroads of plasticity, memory and disease. Trends Neurosci 2010, 33:67-75.
    • (2010) Trends Neurosci , vol.33 , pp. 67-75
    • Hoeffer, C.A.1    Klann, E.2
  • 97
    • 77951206469 scopus 로고    scopus 로고
    • The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
    • Hogart A., Wu D., LaSalle J.M., Schanen N.C. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis 2010, 38:181-191.
    • (2010) Neurobiol Dis , vol.38 , pp. 181-191
    • Hogart, A.1    Wu, D.2    LaSalle, J.M.3    Schanen, N.C.4
  • 99
    • 0037188502 scopus 로고    scopus 로고
    • Altered synaptic plasticity in a mouse model of fragile X mental retardation
    • Huber K.M., Gallagher S.M., Warren S.T., Bear M.F. Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci USA 2002, 99:7746-7750.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 7746-7750
    • Huber, K.M.1    Gallagher, S.M.2    Warren, S.T.3    Bear, M.F.4
  • 100
    • 0027396829 scopus 로고
    • Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53
    • Huibregtse J.M., Scheffner M., Howley P.M. Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53. Mol Cell Biol 1993, 13:775-784.
    • (1993) Mol Cell Biol , vol.13 , pp. 775-784
    • Huibregtse, J.M.1    Scheffner, M.2    Howley, P.M.3
  • 102
    • 0030026657 scopus 로고    scopus 로고
    • Structures, alternative splicing, and neurexin binding of multiple neuroligins
    • Ichtchenko K., Nguyen T., Sudhof T.C. Structures, alternative splicing, and neurexin binding of multiple neuroligins. J Biol Chem 1996, 271:2676-2682.
    • (1996) J Biol Chem , vol.271 , pp. 2676-2682
    • Ichtchenko, K.1    Nguyen, T.2    Sudhof, T.C.3
  • 103
    • 0036713778 scopus 로고    scopus 로고
    • TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
    • Inoki K., Li Y., Zhu T., Wu J., Guan K.L. TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol 2002, 4:648-657.
    • (2002) Nat Cell Biol , vol.4 , pp. 648-657
    • Inoki, K.1    Li, Y.2    Zhu, T.3    Wu, J.4    Guan, K.L.5
  • 104
    • 84907302568 scopus 로고    scopus 로고
    • Enhanced synapse remodelling as a common phenotype in mouse models of autism
    • Isshiki M., Tanaka S., Kuriu T., Tabuchi K., Takumi T., Okabe S. Enhanced synapse remodelling as a common phenotype in mouse models of autism. Nat Commun 2014, 5:4742.
    • (2014) Nat Commun , vol.5 , pp. 4742
    • Isshiki, M.1    Tanaka, S.2    Kuriu, T.3    Tabuchi, K.4    Takumi, T.5    Okabe, S.6
  • 107
    • 84898917488 scopus 로고    scopus 로고
    • Autism-related neuroligin-3 mutation alters social behavior and spatial learning
    • Jaramillo T.C., Liu S., Pettersen A., Birnbaum S.G., Powell C.M. Autism-related neuroligin-3 mutation alters social behavior and spatial learning. Autism Res 2014, 7:264-272.
    • (2014) Autism Res , vol.7 , pp. 264-272
    • Jaramillo, T.C.1    Liu, S.2    Pettersen, A.3    Birnbaum, S.G.4    Powell, C.M.5
  • 108
    • 84962959056 scopus 로고    scopus 로고
    • Altered striatal synaptic function and abnormal behaviour in Shank3 exon4-9 deletion mouse model of autism
    • Jaramillo T.C., Speed H.E., Xuan Z., Reimers J.M., Liu S., Powell C.M. Altered striatal synaptic function and abnormal behaviour in Shank3 exon4-9 deletion mouse model of autism. Autism Res 2015.
    • (2015) Autism Res
    • Jaramillo, T.C.1    Speed, H.E.2    Xuan, Z.3    Reimers, J.M.4    Liu, S.5    Powell, C.M.6
  • 109
    • 84899627300 scopus 로고    scopus 로고
    • Neuroligin-1 regulates excitatory synaptic transmission, LTP and EPSP-spike coupling in the dentate gyrus in vivo
    • Jedlicka P., Vnencak M., Krueger D.D., Jungenitz T., Brose N., Schwarzacher S.W. Neuroligin-1 regulates excitatory synaptic transmission, LTP and EPSP-spike coupling in the dentate gyrus in vivo. Brain Struct Funct 2015, 220:47-58.
    • (2015) Brain Struct Funct , vol.220 , pp. 47-58
    • Jedlicka, P.1    Vnencak, M.2    Krueger, D.D.3    Jungenitz, T.4    Brose, N.5    Schwarzacher, S.W.6
  • 110
    • 84876070991 scopus 로고    scopus 로고
    • Modeling autism by SHANK gene mutations in mice
    • Jiang Y.H., Ehlers M.D. Modeling autism by SHANK gene mutations in mice. Neuron 2013, 78:8-27.
    • (2013) Neuron , vol.78 , pp. 8-27
    • Jiang, Y.H.1    Ehlers, M.D.2
  • 111
    • 0032192481 scopus 로고    scopus 로고
    • Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
    • Jiang Y.H., Armstrong D., Albrecht U., Atkins C.M., Noebels J.L., Eichele G., Sweatt J.D., Beaudet A.L. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 1998, 21:799-811.
    • (1998) Neuron , vol.21 , pp. 799-811
    • Jiang, Y.H.1    Armstrong, D.2    Albrecht, U.3    Atkins, C.M.4    Noebels, J.L.5    Eichele, G.6    Sweatt, J.D.7    Beaudet, A.L.8
  • 112
    • 84901438550 scopus 로고    scopus 로고
    • Juvenile manifestation of ultrasound communication deficits in the neuroligin-4 null mutant mouse model of autism
    • Ju A., Hammerschmidt K., Tantra M., Krueger D., Brose N., Ehrenreich H. Juvenile manifestation of ultrasound communication deficits in the neuroligin-4 null mutant mouse model of autism. Behav Brain Res 2014, 270:159-164.
    • (2014) Behav Brain Res , vol.270 , pp. 159-164
    • Ju, A.1    Hammerschmidt, K.2    Tantra, M.3    Krueger, D.4    Brose, N.5    Ehrenreich, H.6
  • 114
    • 4043138783 scopus 로고    scopus 로고
    • Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity
    • Just M.A., Cherkassky V.L., Keller T.A., Minshew N.J. Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity. Brain 2004, 127:1811-1821.
    • (2004) Brain , vol.127 , pp. 1811-1821
    • Just, M.A.1    Cherkassky, V.L.2    Keller, T.A.3    Minshew, N.J.4
  • 117
    • 84929963405 scopus 로고    scopus 로고
    • Brief report: anomalous neural deactivations and functional connectivity during receptive language in autism spectrum disorder: a functional MRI study
    • Karten A., Hirsch J. Brief report: anomalous neural deactivations and functional connectivity during receptive language in autism spectrum disorder: a functional MRI study. J Autism Dev Disord 2014, 45:1905-1914.
    • (2014) J Autism Dev Disord , vol.45 , pp. 1905-1914
    • Karten, A.1    Hirsch, J.2
  • 118
    • 84887541504 scopus 로고    scopus 로고
    • Local functional overconnectivity in posterior brain regions is associated with symptom severity in autism spectrum disorders
    • Keown C.L., Shih P., Nair A., Peterson N., Mulvey M.E., Muller R.A. Local functional overconnectivity in posterior brain regions is associated with symptom severity in autism spectrum disorders. Cell Reports 2013, 5:567-572.
    • (2013) Cell Reports , vol.5 , pp. 567-572
    • Keown, C.L.1    Shih, P.2    Nair, A.3    Peterson, N.4    Mulvey, M.E.5    Muller, R.A.6
  • 120
    • 70349856176 scopus 로고    scopus 로고
    • Diagnostic change and the increased prevalence of autism
    • King M., Bearman P. Diagnostic change and the increased prevalence of autism. Int J Epidemiol 2009, 38:1224-1234.
    • (2009) Int J Epidemiol , vol.38 , pp. 1224-1234
    • King, M.1    Bearman, P.2
  • 121
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T., Lalande M., Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997, 15:70-73.
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 122
    • 77951014800 scopus 로고    scopus 로고
    • Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice
    • Kline D.D., Ogier M., Kunze D.L., Katz D.M. Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice. J Neurosci 2010, 30:5303-5310.
    • (2010) J Neurosci , vol.30 , pp. 5303-5310
    • Kline, D.D.1    Ogier, M.2    Kunze, D.L.3    Katz, D.M.4
  • 123
    • 0033559663 scopus 로고    scopus 로고
    • Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice
    • Kobayashi T., Minowa O., Kuno J., Mitani H., Hino O., Noda T. Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice. Cancer Res 1999, 59:1206-1211.
    • (1999) Cancer Res , vol.59 , pp. 1206-1211
    • Kobayashi, T.1    Minowa, O.2    Kuno, J.3    Mitani, H.4    Hino, O.5    Noda, T.6
  • 124
    • 0035902509 scopus 로고    scopus 로고
    • A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice
    • Kobayashi T., Minowa O., Sugitani Y., Takai S., Mitani H., Kobayashi E., Noda T., Hino O. A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. Proc Natl Acad Sci USA 2001, 98:8762-8767.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 8762-8767
    • Kobayashi, T.1    Minowa, O.2    Sugitani, Y.3    Takai, S.4    Mitani, H.5    Kobayashi, E.6    Noda, T.7    Hino, O.8
  • 127
    • 84878464396 scopus 로고    scopus 로고
    • Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc
    • Kuhnle S., Mothes B., Matentzoglu K., Scheffner M. Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc. Proc Natl Acad Sci USA 2013, 110:8888-8893.
    • (2013) Proc Natl Acad Sci USA , vol.110 , pp. 8888-8893
    • Kuhnle, S.1    Mothes, B.2    Matentzoglu, K.3    Scheffner, M.4
  • 128
    • 0033603339 scopus 로고    scopus 로고
    • Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination
    • Kumar S., Talis A.L., Howley P.M. Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination. J Biol Chem 1999, 274:18785-18792.
    • (1999) J Biol Chem , vol.274 , pp. 18785-18792
    • Kumar, S.1    Talis, A.L.2    Howley, P.M.3
  • 129
    • 0036501277 scopus 로고    scopus 로고
    • A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
    • Kwiatkowski D.J., Zhang H., Bandura J.L., Heiberger K.M., Glogauer M., el-Hashemite N., Onda H. A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. Hum Mol Genet 2002, 11:525-534.
    • (2002) Hum Mol Genet , vol.11 , pp. 525-534
    • Kwiatkowski, D.J.1    Zhang, H.2    Bandura, J.L.3    Heiberger, K.M.4    Glogauer, M.5    el-Hashemite, N.6    Onda, H.7
  • 132
    • 84857822485 scopus 로고    scopus 로고
    • The short-time structural plasticity of dendritic spines is altered in a model of Rett syndrome
    • Landi S., Putignano E., Boggio E.M., Giustetto M., Pizzorusso T., Ratto G.M. The short-time structural plasticity of dendritic spines is altered in a model of Rett syndrome. Sci Rep 2011, 1:45.
    • (2011) Sci Rep , vol.1 , pp. 45
    • Landi, S.1    Putignano, E.2    Boggio, E.M.3    Giustetto, M.4    Pizzorusso, T.5    Ratto, G.M.6
  • 133
    • 84903721194 scopus 로고    scopus 로고
    • Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation
    • Lang M., Wither R.G., Colic S., Wu C., Monnier P.P., Bardakjian B.L., Zhang L., Eubanks J.H. Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation. Hum Mol Genet 2014, 23:303-318.
    • (2014) Hum Mol Genet , vol.23 , pp. 303-318
    • Lang, M.1    Wither, R.G.2    Colic, S.3    Wu, C.4    Monnier, P.P.5    Bardakjian, B.L.6    Zhang, L.7    Eubanks, J.H.8
  • 134
    • 35148838569 scopus 로고    scopus 로고
    • Brain-derived neurotrophic factor rescues synaptic plasticity in a mouse model of fragile X syndrome
    • Lauterborn J.C., Rex C.S., Kramar E., Chen L.Y., Pandyarajan V., Lynch G., Gall C.M. Brain-derived neurotrophic factor rescues synaptic plasticity in a mouse model of fragile X syndrome. J Neurosci 2007, 27:10685-10694.
    • (2007) J Neurosci , vol.27 , pp. 10685-10694
    • Lauterborn, J.C.1    Rex, C.S.2    Kramar, E.3    Chen, L.Y.4    Pandyarajan, V.5    Lynch, G.6    Gall, C.M.7
  • 135
    • 84155177066 scopus 로고    scopus 로고
    • Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation protein
    • Lee H.Y., Ge W.P., Huang W., He Y., Wang G.X., Rowson-Baldwin A., Smith S.J., Jan Y.N., Jan L.Y. Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation protein. Neuron 2011, 72:630-642.
    • (2011) Neuron , vol.72 , pp. 630-642
    • Lee, H.Y.1    Ge, W.P.2    Huang, W.3    He, Y.4    Wang, G.X.5    Rowson-Baldwin, A.6    Smith, S.J.7    Jan, Y.N.8    Jan, L.Y.9
  • 136
    • 84939782142 scopus 로고    scopus 로고
    • Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit
    • Lee J., Chung C., Ha S., Lee D., Kim D.Y., Kim H., Kim E. Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit. Front Cell Neurosci 2015, 9:94.
    • (2015) Front Cell Neurosci , vol.9 , pp. 94
    • Lee, J.1    Chung, C.2    Ha, S.3    Lee, D.4    Kim, D.Y.5    Kim, H.6    Kim, E.7
  • 137
    • 0036198673 scopus 로고    scopus 로고
    • Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency
    • Li J., Pelletier M.R., Perez Velazquez J.L., Carlen P.L. Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency. Mol Cell Neurosci 2002, 19:138-151.
    • (2002) Mol Cell Neurosci , vol.19 , pp. 138-151
    • Li, J.1    Pelletier, M.R.2    Perez Velazquez, J.L.3    Carlen, P.L.4
  • 138
    • 77951432260 scopus 로고    scopus 로고
    • Social influence and the autism epidemic
    • Liu K.Y., King M., Bearman P.S. Social influence and the autism epidemic. AJS 2010, 115:1387-1434.
    • (2010) AJS , vol.115 , pp. 1387-1434
    • Liu, K.Y.1    King, M.2    Bearman, P.S.3
  • 139
    • 77949485738 scopus 로고    scopus 로고
    • Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice
    • Lonetti G., Angelucci A., Morando L., Boggio E.M., Giustetto M., Pizzorusso T. Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice. Biol Psychiatry 2010, 67:657-665.
    • (2010) Biol Psychiatry , vol.67 , pp. 657-665
    • Lonetti, G.1    Angelucci, A.2    Morando, L.3    Boggio, E.M.4    Giustetto, M.5    Pizzorusso, T.6
  • 144
    • 84928207237 scopus 로고    scopus 로고
    • Rett syndrome: a complex disorder with simple roots
    • Lyst M.J., Bird A. Rett syndrome: a complex disorder with simple roots. Nat Rev Genet 2015, 261-275.
    • (2015) Nat Rev Genet , pp. 261-275
    • Lyst, M.J.1    Bird, A.2
  • 145
    • 78049395303 scopus 로고    scopus 로고
    • Ubiquitination in postsynaptic function and plasticity
    • Mabb A.M., Ehlers M.D. Ubiquitination in postsynaptic function and plasticity. Annu Rev Cell Dev Biol 2010, 26:179-210.
    • (2010) Annu Rev Cell Dev Biol , vol.26 , pp. 179-210
    • Mabb, A.M.1    Ehlers, M.D.2
  • 146
    • 0032577699 scopus 로고    scopus 로고
    • The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate
    • Maehama T., Dixon J.E. The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate. J Biol Chem 1998, 273:13375-13378.
    • (1998) J Biol Chem , vol.273 , pp. 13375-13378
    • Maehama, T.1    Dixon, J.E.2
  • 147
    • 33749012006 scopus 로고    scopus 로고
    • E6AP mediates regulated proteasomal degradation of the nuclear receptor coactivator amplified in breast cancer 1 in immortalized cells
    • Mani A., Oh A.S., Bowden E.T., Lahusen T., Lorick K.L., Weissman A.M., Schlegel R., Wellstein A., Riegel A.T. E6AP mediates regulated proteasomal degradation of the nuclear receptor coactivator amplified in breast cancer 1 in immortalized cells. Cancer Res 2006, 66:8680-8686.
    • (2006) Cancer Res , vol.66 , pp. 8680-8686
    • Mani, A.1    Oh, A.S.2    Bowden, E.T.3    Lahusen, T.4    Lorick, K.L.5    Weissman, A.M.6    Schlegel, R.7    Wellstein, A.8    Riegel, A.T.9
  • 149
    • 84887214395 scopus 로고    scopus 로고
    • Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition
    • Maunakea A.K., Chepelev I., Cui K., Zhao K. Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition. Cell Res 2013, 23:1256-1269.
    • (2013) Cell Res , vol.23 , pp. 1256-1269
    • Maunakea, A.K.1    Chepelev, I.2    Cui, K.3    Zhao, K.4
  • 150
    • 79960075356 scopus 로고    scopus 로고
    • Adult neural function requires MeCP2
    • Epub 2011, Jun 2
    • McGraw C.M., Samaco R.C., Zoghbi H.Y. Adult neural function requires MeCP2. Science 2011, 333(6039):186. Epub 2011, Jun 2. 10.1126/science.1206593.
    • (2011) Science , vol.333 , Issue.6039 , pp. 186
    • McGraw, C.M.1    Samaco, R.C.2    Zoghbi, H.Y.3
  • 152
    • 5344247263 scopus 로고    scopus 로고
    • The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin
    • Meyer G., Varoqueaux F., Neeb A., Oschlies M., Brose N. The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin. Neuropharmacology 2004, 47:724-733.
    • (2004) Neuropharmacology , vol.47 , pp. 724-733
    • Meyer, G.1    Varoqueaux, F.2    Neeb, A.3    Oschlies, M.4    Brose, N.5
  • 153
    • 84871783676 scopus 로고    scopus 로고
    • The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons
    • Miao S., Chen R., Ye J., Tan G.H., Li S., Zhang J., Jiang Y.H., Xiong Z.Q. The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. J Neurosci 2013, 33:327-333.
    • (2013) J Neurosci , vol.33 , pp. 327-333
    • Miao, S.1    Chen, R.2    Ye, J.3    Tan, G.H.4    Li, S.5    Zhang, J.6    Jiang, Y.H.7    Xiong, Z.Q.8
  • 156
    • 77949383668 scopus 로고    scopus 로고
    • The nature of brain dysfunction in autism: functional brain imaging studies
    • Minshew N.J., Keller T.A. The nature of brain dysfunction in autism: functional brain imaging studies. Curr Opin Neurol 2010, 23:124-130.
    • (2010) Curr Opin Neurol , vol.23 , pp. 124-130
    • Minshew, N.J.1    Keller, T.A.2
  • 158
    • 0036197031 scopus 로고    scopus 로고
    • Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice
    • Miura K., Kishino T., Li E., Webber H., Dikkes P., Holmes G.L., Wagstaff J. Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol Dis 2002, 9:149-159.
    • (2002) Neurobiol Dis , vol.9 , pp. 149-159
    • Miura, K.1    Kishino, T.2    Li, E.3    Webber, H.4    Dikkes, P.5    Holmes, G.L.6    Wagstaff, J.7
  • 160
    • 69949181914 scopus 로고    scopus 로고
    • The ubiquitin ligase E6-AP promotes degradation of alpha-synuclein
    • Mulherkar S.A., Sharma J., Jana N.R. The ubiquitin ligase E6-AP promotes degradation of alpha-synuclein. J Neurochem 2009, 110:1955-1964.
    • (2009) J Neurochem , vol.110 , pp. 1955-1964
    • Mulherkar, S.A.1    Sharma, J.2    Jana, N.R.3
  • 161
    • 0342437491 scopus 로고    scopus 로고
    • MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
    • Nan X., Campoy F.J., Bird A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 1997, 88(4):471-481.
    • (1997) Cell , vol.88 , Issue.4 , pp. 471-481
    • Nan, X.1    Campoy, F.J.2    Bird, A.3
  • 163
    • 84923077204 scopus 로고    scopus 로고
    • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
    • Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium
    • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat Neurosci 2015, 18(2):199-209. Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium.
    • (2015) Nat Neurosci , vol.18 , Issue.2 , pp. 199-209
  • 164
    • 84908159463 scopus 로고    scopus 로고
    • A comparison of temporal trends in United States autism prevalence to trends in suspected environmental factors
    • 73-069X-13-73
    • Nevison C.D. A comparison of temporal trends in United States autism prevalence to trends in suspected environmental factors. Environ Health 2014, 13. 73-069X-13-73.
    • (2014) Environ Health , vol.13
    • Nevison, C.D.1
  • 165
    • 35148840586 scopus 로고    scopus 로고
    • Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome
    • Ogier M., Wang H., Hong E., Wang Q., Greenberg M.E., Katz D.M. Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. J Neurosci 2007, 27:10912-10917.
    • (2007) J Neurosci , vol.27 , pp. 10912-10917
    • Ogier, M.1    Wang, H.2    Hong, E.3    Wang, Q.4    Greenberg, M.E.5    Katz, D.M.6
  • 166
    • 0032741978 scopus 로고    scopus 로고
    • Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background
    • Onda H., Lueck A., Marks P.W., Warren H.B., Kwiatkowski D.J. Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest 1999, 104:687-695.
    • (1999) J Clin Invest , vol.104 , pp. 687-695
    • Onda, H.1    Lueck, A.2    Marks, P.W.3    Warren, H.B.4    Kwiatkowski, D.J.5
  • 167
    • 78049262158 scopus 로고    scopus 로고
    • Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome
    • Pan F., Aldridge G.M., Greenough W.T., Gan W.B. Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome. Proc Natl Acad Sci USA 2010, 107:17768-17773.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 17768-17773
    • Pan, F.1    Aldridge, G.M.2    Greenough, W.T.3    Gan, W.B.4
  • 168
    • 0032881856 scopus 로고    scopus 로고
    • Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function
    • Paradee W., Melikian H.E., Rasmussen D.L., Kenneson A., Conn P.J., Warren S.T. Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function. Neuroscience 1999, 94:185-192.
    • (1999) Neuroscience , vol.94 , pp. 185-192
    • Paradee, W.1    Melikian, H.E.2    Rasmussen, D.L.3    Kenneson, A.4    Conn, P.J.5    Warren, S.T.6
  • 172
    • 9444274771 scopus 로고    scopus 로고
    • Autism in Angelman syndrome: implications for autism research
    • Peters S.U., Beaudet A.L., Madduri N., Bacino C.A. Autism in Angelman syndrome: implications for autism research. Clin Genet 2004, 66:530-536.
    • (2004) Clin Genet , vol.66 , pp. 530-536
    • Peters, S.U.1    Beaudet, A.L.2    Madduri, N.3    Bacino, C.A.4
  • 175
    • 60349108540 scopus 로고    scopus 로고
    • Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice
    • Pilpel Y., Kolleker A., Berberich S., Ginger M., Frick A., Mientjes E., Oostra B.A., Seeburg P.H. Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice. J Physiol 2009, 587:787-804.
    • (2009) J Physiol , vol.587 , pp. 787-804
    • Pilpel, Y.1    Kolleker, A.2    Berberich, S.3    Ginger, M.4    Frick, A.5    Mientjes, E.6    Oostra, B.A.7    Seeburg, P.H.8
  • 176
    • 84878337829 scopus 로고    scopus 로고
    • Developmental regulation of GABAergic signalling in the hippocampus of neuroligin 3 R451C knock-in mice: an animal model of Autism
    • Pizzarelli R., Cherubini E. Developmental regulation of GABAergic signalling in the hippocampus of neuroligin 3 R451C knock-in mice: an animal model of Autism. Front Cell Neurosci 2013, 7:85.
    • (2013) Front Cell Neurosci , vol.7 , pp. 85
    • Pizzarelli, R.1    Cherubini, E.2
  • 177
    • 0036714127 scopus 로고    scopus 로고
    • Akt regulates growth by directly phosphorylating Tsc2
    • Potter C.J., Pedraza L.G., Xu T. Akt regulates growth by directly phosphorylating Tsc2. Nat Cell Biol 2002, 4:658-665.
    • (2002) Nat Cell Biol , vol.4 , pp. 658-665
    • Potter, C.J.1    Pedraza, L.G.2    Xu, T.3
  • 178
    • 84904731433 scopus 로고    scopus 로고
    • Neurexin dysfunction in adult neurons results in autistic-like behavior in mice
    • Rabaneda L.G., Robles-Lanuza E., Nieto-Gonzalez J.L., Scholl F.G. Neurexin dysfunction in adult neurons results in autistic-like behavior in mice. Cell Rep 2014, 8:338-346.
    • (2014) Cell Rep , vol.8 , pp. 338-346
    • Rabaneda, L.G.1    Robles-Lanuza, E.2    Nieto-Gonzalez, J.L.3    Scholl, F.G.4
  • 180
    • 84872679699 scopus 로고    scopus 로고
    • Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex
    • Reith R.M., McKenna J., Wu H., Hashmi S.S., Cho S.H., Dash P.K., Gambello M.J. Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex. Neurobiol Dis 2013, 51:93-103.
    • (2013) Neurobiol Dis , vol.51 , pp. 93-103
    • Reith, R.M.1    McKenna, J.2    Wu, H.3    Hashmi, S.S.4    Cho, S.H.5    Dash, P.K.6    Gambello, M.J.7
  • 183
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
    • Rougeulle C., Glatt H., Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 1997, 17:14-15.
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 185
    • 77950386683 scopus 로고    scopus 로고
    • Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a
    • Sato M., Stryker M.P. Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a. Proc Natl Acad Sci USA 2010, 107:5611-5616.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 5611-5616
    • Sato, M.1    Stryker, M.P.2
  • 187
    • 0034625250 scopus 로고    scopus 로고
    • Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons
    • Scheiffele P., Fan J., Choih J., Fetter R., Serafini T. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 2000, 101:657-669.
    • (2000) Cell , vol.101 , pp. 657-669
    • Scheiffele, P.1    Fan, J.2    Choih, J.3    Fetter, R.4    Serafini, T.5
  • 189
    • 70350022707 scopus 로고    scopus 로고
    • Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities
    • Schutt J., Falley K., Richter D., Kreienkamp H.J., Kindler S. Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities. J Biol Chem 2009, 284:25479-25487.
    • (2009) J Biol Chem , vol.284 , pp. 25479-25487
    • Schutt, J.1    Falley, K.2    Richter, D.3    Kreienkamp, H.J.4    Kindler, S.5
  • 192
    • 0034044563 scopus 로고    scopus 로고
    • The Shank family of scaffold proteins
    • Sheng M., Kim E. The Shank family of scaffold proteins. J Cell Sci 2000, 113(Pt 11):1851-1856.
    • (2000) J Cell Sci , vol.113 , pp. 1851-1856
    • Sheng, M.1    Kim, E.2
  • 193
    • 84875850679 scopus 로고    scopus 로고
    • Fragile X mental retardation protein and synaptic plasticity
    • Sidorov M.S., Auerbach B.D., Bear M.F. Fragile X mental retardation protein and synaptic plasticity. Mol Brain 2013, 8(6):15.
    • (2013) Mol Brain , vol.8 , Issue.6 , pp. 15
    • Sidorov, M.S.1    Auerbach, B.D.2    Bear, M.F.3
  • 195
    • 77953800799 scopus 로고    scopus 로고
    • Behavioural phenotyping assays for mouse models of autism
    • Silverman J.L., Yang M., Lord C., Crawley J.N. Behavioural phenotyping assays for mouse models of autism. Nat Rev Neurosci 2010, 11:490-502.
    • (2010) Nat Rev Neurosci , vol.11 , pp. 490-502
    • Silverman, J.L.1    Yang, M.2    Lord, C.3    Crawley, J.N.4
  • 199
    • 80053626726 scopus 로고    scopus 로고
    • Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice
    • 103ra97
    • Smith S.E., Zhou Y.D., Zhang G., Jin Z., Stoppel D.C., Anderson M.P. Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. Sci Transl Med 2011, 3:103ra97.
    • (2011) Sci Transl Med , vol.3
    • Smith, S.E.1    Zhou, Y.D.2    Zhang, G.3    Jin, Z.4    Stoppel, D.C.5    Anderson, M.P.6
  • 201
    • 84936095719 scopus 로고    scopus 로고
    • Autism-associated insertion mutation (InsG) of Shank3 exon 21 causes impaired synaptic transmission and behavioral deficits
    • Speed H.E., Kouser M., Xuan Z., Reimers J.M., Ochoa C.F., Gupta N., Liu S., Powell C.M. Autism-associated insertion mutation (InsG) of Shank3 exon 21 causes impaired synaptic transmission and behavioral deficits. J Neurosci 2015, 35:9648-9665.
    • (2015) J Neurosci , vol.35 , pp. 9648-9665
    • Speed, H.E.1    Kouser, M.2    Xuan, Z.3    Reimers, J.M.4    Ochoa, C.F.5    Gupta, N.6    Liu, S.7    Powell, C.M.8
  • 202
    • 84856904410 scopus 로고    scopus 로고
    • Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration
    • Sperow M., Berry R.B., Bayazitov I.T., Zhu G., Baker S.J., Zakharenko S.S. Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration. J Physiol 2012, 590:777-792.
    • (2012) J Physiol , vol.590 , pp. 777-792
    • Sperow, M.1    Berry, R.B.2    Bayazitov, I.T.3    Zhu, G.4    Baker, S.J.5    Zakharenko, S.S.6
  • 203
    • 84868616287 scopus 로고    scopus 로고
    • Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder
    • 8-2392-3-8
    • Steinberg K.M., Ramachandran D., Patel V.C., Shetty A.C., Cutler D.J., Zwick M.E. Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder. Mol Autism 2012, 3. 8-2392-3-8.
    • (2012) Mol Autism , vol.3
    • Steinberg, K.M.1    Ramachandran, D.2    Patel, V.C.3    Shetty, A.C.4    Cutler, D.J.5    Zwick, M.E.6
  • 204
    • 84905381699 scopus 로고    scopus 로고
    • Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: developmental aspects and effects of social context
    • Sungur A.O., Vorckel K.J., Schwarting R.K., Wohr M. Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: developmental aspects and effects of social context. J Neurosci Methods 2014, 234:92-100.
    • (2014) J Neurosci Methods , vol.234 , pp. 92-100
    • Sungur, A.O.1    Vorckel, K.J.2    Schwarting, R.K.3    Wohr, M.4
  • 207
    • 0036270811 scopus 로고    scopus 로고
    • Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing
    • Tabuchi K., Sudhof T.C. Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing. Genomics 2002, 79:849-859.
    • (2002) Genomics , vol.79 , pp. 849-859
    • Tabuchi, K.1    Sudhof, T.C.2
  • 208
    • 35148858044 scopus 로고    scopus 로고
    • A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
    • Tabuchi K., Blundell J., Etherton M.R., Hammer R.E., Liu X., Powell C.M., Sudhof T.C. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 2007, 318:71-76.
    • (2007) Science , vol.318 , pp. 71-76
    • Tabuchi, K.1    Blundell, J.2    Etherton, M.R.3    Hammer, R.E.4    Liu, X.5    Powell, C.M.6    Sudhof, T.C.7
  • 209
    • 84875270373 scopus 로고    scopus 로고
    • Dysregulation of synaptic plasticity precedes appearance of morphological defects in a Pten conditional knockout mouse model of autism
    • Takeuchi K., Gertner M.J., Zhou J., Parada L.F., Bennett M.V., Zukin R.S. Dysregulation of synaptic plasticity precedes appearance of morphological defects in a Pten conditional knockout mouse model of autism. Proc Natl Acad Sci USA 2013, 110:4738-4743.
    • (2013) Proc Natl Acad Sci USA , vol.110 , pp. 4738-4743
    • Takeuchi, K.1    Gertner, M.J.2    Zhou, J.3    Parada, L.F.4    Bennett, M.V.5    Zukin, R.S.6
  • 210
    • 0037039358 scopus 로고    scopus 로고
    • A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus
    • Tang S.J., Reis G., Kang H., Gingras A.C., Sonenberg N., Schuman E.M. A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus. Proc Natl Acad Sci USA 2002, 99:467-472.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 467-472
    • Tang, S.J.1    Reis, G.2    Kang, H.3    Gingras, A.C.4    Sonenberg, N.5    Schuman, E.M.6
  • 213
    • 0042701991 scopus 로고    scopus 로고
    • Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb
    • Tee A.R., Manning B.D., Roux P.P., Cantley L.C., Blenis J. Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Curr Biol 2003, 13:1259-1268.
    • (2003) Curr Biol , vol.13 , pp. 1259-1268
    • Tee, A.R.1    Manning, B.D.2    Roux, P.P.3    Cantley, L.C.4    Blenis, J.5
  • 214
    • 0028246435 scopus 로고
    • Fmr1 knockout mice: a model to study fragile X mental retardation
    • The Dutch-Belgian Fragile X Consortium Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 1994, 78:23-33.
    • (1994) Cell , vol.78 , pp. 23-33
  • 215
    • 84901362837 scopus 로고    scopus 로고
    • Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production
    • Tilot A.K., Gaugler M.K., Yu Q., Romigh T., Yu W., Miller R.H., Frazier T.W., Eng C. Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production. Hum Mol Genet 2014, 23:3212-3227.
    • (2014) Hum Mol Genet , vol.23 , pp. 3212-3227
    • Tilot, A.K.1    Gaugler, M.K.2    Yu, Q.3    Romigh, T.4    Yu, W.5    Miller, R.H.6    Frazier, T.W.7    Eng, C.8
  • 216
    • 84897528076 scopus 로고    scopus 로고
    • Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing
    • Treutlein B., Gokce O., Quake S.R., Sudhof T.C. Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing. Proc Natl Acad Sci USA 2014, 111:E1291-E1299.
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. E1291-E1299
    • Treutlein, B.1    Gokce, O.2    Quake, S.R.3    Sudhof, T.C.4
  • 218
    • 84933670488 scopus 로고    scopus 로고
    • Reconceptualizing functional brain connectivity in autism from a developmental perspective
    • Uddin L.Q., Supekar K., Menon V. Reconceptualizing functional brain connectivity in autism from a developmental perspective. Front Hum Neurosci 2013, 7:458.
    • (2013) Front Hum Neurosci , vol.7 , pp. 458
    • Uddin, L.Q.1    Supekar, K.2    Menon, V.3
  • 219
    • 0028969264 scopus 로고
    • Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons
    • Ullrich B., Ushkaryov Y.A., Sudhof T.C. Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons. Neuron 1995, 14:497-507.
    • (1995) Neuron , vol.14 , pp. 497-507
    • Ullrich, B.1    Ushkaryov, Y.A.2    Sudhof, T.C.3
  • 223
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., Pizzuti A., Reiner O., Richards S., Victoria M.F., Zhang F.P. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65:905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6    Reiner, O.7    Richards, S.8    Victoria, M.F.9    Zhang, F.P.10
  • 224
    • 82855175124 scopus 로고    scopus 로고
    • Brain connectivity and high functioning autism: a promising path of research that needs refined models, methodological convergence, and stronger behavioral links
    • Vissers M.E., Cohen M.X., Geurts H.M. Brain connectivity and high functioning autism: a promising path of research that needs refined models, methodological convergence, and stronger behavioral links. Neurosci Biobehav Rev 2012, 36:604-625.
    • (2012) Neurosci Biobehav Rev , vol.36 , pp. 604-625
    • Vissers, M.E.1    Cohen, M.X.2    Geurts, H.M.3
  • 225
    • 84861950914 scopus 로고    scopus 로고
    • Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects
    • Wallace M.L., Burette A.C., Weinberg R.J., Philpot B.D. Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects. Neuron 2012, 74:793-800.
    • (2012) Neuron , vol.74 , pp. 793-800
    • Wallace, M.L.1    Burette, A.C.2    Weinberg, R.J.3    Philpot, B.D.4
  • 226
    • 33745255079 scopus 로고    scopus 로고
    • The PTEN phosphatase is essential for long-term depression of hippocampal synapses
    • Wang Y., Cheng A., Mattson M.P. The PTEN phosphatase is essential for long-term depression of hippocampal synapses. Neuromolecular Med 2006, 8:329-336.
    • (2006) Neuromolecular Med , vol.8 , pp. 329-336
    • Wang, Y.1    Cheng, A.2    Mattson, M.P.3
  • 228
    • 84900800634 scopus 로고    scopus 로고
    • Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice
    • 30-2392-5-30. eCollection 2014
    • Wang X., Xu Q., Bey A.L., Lee Y., Jiang Y.H. Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice. Mol Autism 2014, 5. 30-2392-5-30. eCollection 2014.
    • (2014) Mol Autism , vol.5
    • Wang, X.1    Xu, Q.2    Bey, A.L.3    Lee, Y.4    Jiang, Y.H.5
  • 230
    • 84893282260 scopus 로고    scopus 로고
    • Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures
    • Weston M.C., Chen H., Swann J.W. Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures. Front Mol Neurosci 2014, 7:1.
    • (2014) Front Mol Neurosci , vol.7 , pp. 1
    • Weston, M.C.1    Chen, H.2    Swann, J.W.3
  • 231
    • 84921522339 scopus 로고    scopus 로고
    • Hyperactivity of newborn Pten knock-out neurons results from increased excitatory synaptic drive
    • Williams M.R., DeSpenza T., Li M., Gulledge A.T., Luikart B.W. Hyperactivity of newborn Pten knock-out neurons results from increased excitatory synaptic drive. J Neurosci 2015, 35:943-959.
    • (2015) J Neurosci , vol.35 , pp. 943-959
    • Williams, M.R.1    DeSpenza, T.2    Li, M.3    Gulledge, A.T.4    Luikart, B.W.5
  • 232
    • 0021348560 scopus 로고
    • The validity of animal models of depression
    • Willner P. The validity of animal models of depression. Psychopharmacology 1984, 83:1-16.
    • (1984) Psychopharmacology , vol.83 , pp. 1-16
    • Willner, P.1
  • 233
    • 84912101664 scopus 로고    scopus 로고
    • Autism spectrum disorders: from genes to neurobiology
    • Willsey A.J., State M.W. Autism spectrum disorders: from genes to neurobiology. Curr Opin Neurobiol 2015, 30:92-99.
    • (2015) Curr Opin Neurobiol , vol.30 , pp. 92-99
    • Willsey, A.J.1    State, M.W.2
  • 234
    • 0042828948 scopus 로고    scopus 로고
    • Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
    • Wilson H.L., Wong A.C., Shaw S.R., Tse W.Y., Stapleton G.A., Phelan M.C., Hu S., Marshall J., McDermid H.E. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 2003, 40:575-584.
    • (2003) J Med Genet , vol.40 , pp. 575-584
    • Wilson, H.L.1    Wong, A.C.2    Shaw, S.R.3    Tse, W.Y.4    Stapleton, G.A.5    Phelan, M.C.6    Hu, S.7    Marshall, J.8    McDermid, H.E.9
  • 236
    • 79958260360 scopus 로고    scopus 로고
    • Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior
    • Wohr M., Roullet F.I., Hung A.Y., Sheng M., Crawley J.N. Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior. PLoS One 2011, 6:e20631.
    • (2011) PLoS One , vol.6
    • Wohr, M.1    Roullet, F.I.2    Hung, A.Y.3    Sheng, M.4    Crawley, J.N.5
  • 237
    • 84880329347 scopus 로고    scopus 로고
    • Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2
    • Wohr M., Silverman J.L., Scattoni M.L., Turner S.M., Harris M.J., Saxena R., Crawley J.N. Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2. Behav Brain Res 2013, 251:50-64.
    • (2013) Behav Brain Res , vol.251 , pp. 50-64
    • Wohr, M.1    Silverman, J.L.2    Scattoni, M.L.3    Turner, S.M.4    Harris, M.J.5    Saxena, R.6    Crawley, J.N.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.