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Volumn 9, Issue 2, 2014, Pages 137-150

Convergent synaptic and circuit substrates underlying autism genetic risks

Author keywords

autism spectrum disorders; behavior; circuits; development; neurodevelopmental disorders; risk genes; synapse

Indexed keywords


EID: 84897475635     PISSN: 16747984     EISSN: 16747992     Source Type: Journal    
DOI: 10.1007/s11515-014-1298-y     Document Type: Review
Times cited : (13)

References (136)
  • 1
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: on the threshold of a new neurobiology
    • Abrahams B S, Geschwind D H (2008). Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet, 9(5): 341-355.
    • (2008) Nat Rev Genet , vol.9 , Issue.5 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 3
    • 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 (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet, 23(2): 185-188.
    • (1999) Nat Genet , vol.23 , Issue.2 , 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
    • 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 (2006). Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis, 21(1): 217-227.
    • (2006) Neurobiol Dis , vol.21 , Issue.1 , pp. 217-227
    • Asaka, Y.1    Jugloff, D.G.2    Zhang, L.3    Eubanks, J.H.4    Fitzsimonds, R.M.5
  • 7
    • 84884177993 scopus 로고    scopus 로고
    • Autism at 70-redrawing the boundaries
    • Baker J P (2013). Autism at 70-redrawing the boundaries. N Engl J Med, 369(12): 1089-1091.
    • (2013) N Engl J Med , vol.369 , Issue.12 , pp. 1089-1091
    • Baker, J.P.1
  • 8
    • 0031824657 scopus 로고    scopus 로고
    • Autism and tuberous sclerosis complex: prevalence and clinical features
    • Baker P, Piven J, Sato Y (1998). Autism and tuberous sclerosis complex: prevalence and clinical features. J Autism Dev Disord, 28(4): 279-285.
    • (1998) J Autism Dev Disord , vol.28 , Issue.4 , pp. 279-285
    • Baker, P.1    Piven, J.2    Sato, Y.3
  • 9
    • 77949441465 scopus 로고    scopus 로고
    • SFARI gene: an evolving database for the autism research community
    • Banerjee-Basu S, Packer A (2010). SFARI gene: an evolving database for the autism research community. Dis Model Mech, 3(3-4): 133-135.
    • (2010) Dis Model Mech , vol.3 , Issue.3-4 , pp. 133-135
    • Banerjee-Basu, S.1    Packer, A.2
  • 10
    • 84877344739 scopus 로고    scopus 로고
    • Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis
    • Bateup H S, Johnson C A, Denefrio C L, Saulnier J L, Kornacker K, Sabatini B L (2013). Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis. Neuron, 78(3): 510-522.
    • (2013) Neuron , vol.78 , Issue.3 , pp. 510-522
    • Bateup, H.S.1    Johnson, C.A.2    Denefrio, C.L.3    Saulnier, J.L.4    Kornacker, K.5    Sabatini, B.L.6
  • 11
    • 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 (2011). Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function. J Neurosci, 31(24): 8862-8869.
    • (2011) J Neurosci , vol.31 , Issue.24 , pp. 8862-8869
    • Bateup, H.S.1    Takasaki, K.T.2    Saulnier, J.L.3    Denefrio, C.L.4    Sabatini, B.L.5
  • 12
    • 0027963287 scopus 로고
    • Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents
    • Belichenko P V, Oldfors A, Hagberg B, Dahlström A (1994). Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents. Neuroreport, 5(12): 1509-1513.
    • (1994) Neuroreport , vol.5 , Issue.12 , pp. 1509-1513
    • Belichenko, P.V.1    Oldfors, A.2    Hagberg, B.3    Dahlström, A.4
  • 13
    • 33748998205 scopus 로고    scopus 로고
    • Fragile X syndrome and autism at the intersection of genetic and neural networks
    • Belmonte M K, Bourgeron T (2006). Fragile X syndrome and autism at the intersection of genetic and neural networks. Nat Neurosci, 9(10): 1221-1225.
    • (2006) Nat Neurosci , vol.9 , Issue.10 , pp. 1221-1225
    • Belmonte, M.K.1    Bourgeron, T.2
  • 16
    • 67650750977 scopus 로고    scopus 로고
    • A synaptic trek to autism
    • Bourgeron T (2009). A synaptic trek to autism. Curr Opin Neurobiol, 19(2): 231-234.
    • (2009) Curr Opin Neurobiol , vol.19 , Issue.2 , pp. 231-234
    • Bourgeron, T.1
  • 17
    • 45549107222 scopus 로고    scopus 로고
    • Circuit and plasticity defects in the developing somatosensory cortex of FMR1 knock-out mice
    • Bureau I, Shepherd G M, Svoboda K (2008). Circuit and plasticity defects in the developing somatosensory cortex of FMR1 knock-out mice. J Neurosci, 28(20): 5178-5188.
    • (2008) J Neurosci , vol.28 , Issue.20 , pp. 5178-5188
    • Bureau, I.1    Shepherd, G.M.2    Svoboda, K.3
  • 20
    • 75949087803 scopus 로고    scopus 로고
    • A topographic study of minicolumnar core width by lamina comparison between autistic subjects and controls: possible minicolumnar disruption due to an anatomical element in-common to multiple laminae
    • Casanova MF, El-Baz A, Vanbogaert E, Narahari P, Switala A (2010). A topographic study of minicolumnar core width by lamina comparison between autistic subjects and controls: possible minicolumnar disruption due to an anatomical element in-common to multiple laminae. Brain Pathol, 20(2): 451-458.
    • (2010) Brain Pathol , vol.20 , Issue.2 , pp. 451-458
    • Casanova, M.F.1    El-Baz, A.2    Vanbogaert, E.3    Narahari, P.4    Switala, A.5
  • 21
    • 35648978121 scopus 로고    scopus 로고
    • The story of Rett syndrome: from clinic to neurobiology
    • Chahrour M, Zoghbi H Y (2007). The story of Rett syndrome: from clinic to neurobiology. Neuron, 56(3): 422-437.
    • (2007) Neuron , vol.56 , Issue.3 , pp. 422-437
    • Chahrour, M.1    Zoghbi, H.Y.2
  • 23
    • 0032078872 scopus 로고    scopus 로고
    • A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II
    • Chen H J, Rojas-Soto M, Oguni A, Kennedy M B (1998). A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II. Neuron, 20(5): 895-904.
    • (1998) Neuron , vol.20 , Issue.5 , pp. 895-904
    • Chen, H.J.1    Rojas-Soto, M.2    Oguni, A.3    Kennedy, M.B.4
  • 25
    • 77956457759 scopus 로고    scopus 로고
    • Renewed focus on the developing human neocortex
    • Clowry G, Molnár Z, Rakic P (2010). Renewed focus on the developing human neocortex. J Anat, 217(4): 276-288.
    • (2010) J Anat , vol.217 , Issue.4 , pp. 276-288
    • Clowry, G.1    Molnár, Z.2    Rakic, P.3
  • 28
    • 20544457861 scopus 로고    scopus 로고
    • Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection
    • Courchesne E, Pierce K (2005). Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection. Curr Opin Neurobiol, 15(2): 225-230.
    • (2005) Curr Opin Neurobiol , vol.15 , Issue.2 , pp. 225-230
    • Courchesne, E.1    Pierce, K.2
  • 29
  • 30
    • 77953528456 scopus 로고    scopus 로고
    • Delayed stabilization of dendritic spines in fragile X mice
    • Cruz-Martín A, Crespo M, Portera-Cailliau C (2010). Delayed stabilization of dendritic spines in fragile X mice. J Neurosci, 30(23): 7793-7803.
    • (2010) J Neurosci , vol.30 , Issue.23 , pp. 7793-7803
    • Cruz-Martín, A.1    Crespo, M.2    Portera-Cailliau, C.3
  • 32
    • 67649427508 scopus 로고    scopus 로고
    • Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome
    • Curia G, Papouin T, Séguéla P, Avoli M (2009). Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome. Cereb Cortex, 19(7): 1515-1520.
    • (2009) Cereb Cortex , vol.19 , Issue.7 , pp. 1515-1520
    • Curia, G.1    Papouin, T.2    Séguéla, P.3    Avoli, M.4
  • 35
    • 84855341900 scopus 로고    scopus 로고
    • SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
    • Durand C M, Perroy J, Loll F, Perrais D, Fagni L, Bourgeron T, Montcouquiol M, Sans N (2011). SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Mol Psychiatry, 17(1): 71-84.
    • (2011) Mol Psychiatry , vol.17 , Issue.1 , pp. 71-84
    • Durand, C.M.1    Perroy, J.2    Loll, F.3    Perrais, D.4    Fagni, L.5    Bourgeron, T.6    Montcouquiol, M.7    Sans, N.8
  • 37
    • 0141633045 scopus 로고    scopus 로고
    • A systems neuroscience approach to autism: biological, cognitive, and clinical perspectives
    • Eigsti I M, Shapiro T (2003). A systems neuroscience approach to autism: biological, cognitive, and clinical perspectives. Ment Retard Dev Disabil Res Rev, 9(3): 205-215.
    • (2003) Ment Retard Dev Disabil Res Rev , vol.9 , Issue.3 , pp. 205-215
    • Eigsti, I.M.1    Shapiro, T.2
  • 40
    • 33846921789 scopus 로고    scopus 로고
    • Autism spectrum disorders: developmental disconnection syndromes
    • Geschwind D H, Levitt P (2007). Autism spectrum disorders: developmental disconnection syndromes. Curr Opin Neurobiol, 17(1): 103-111.
    • (2007) Curr Opin Neurobiol , vol.17 , Issue.1 , pp. 103-111
    • Geschwind, D.H.1    Levitt, P.2
  • 41
    • 33846924001 scopus 로고    scopus 로고
    • Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
    • Giacometti E, Luikenhuis S, Beard C, Jaenisch R (2007). Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proc Natl Acad Sci USA, 104(6): 1931-1936.
    • (2007) Proc Natl Acad Sci USA , vol.104 , Issue.6 , pp. 1931-1936
    • Giacometti, E.1    Luikenhuis, S.2    Beard, C.3    Jaenisch, R.4
  • 42
    • 53849100522 scopus 로고    scopus 로고
    • Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome
    • Gibson J R, Bartley A F, Hays S A, Huber K M (2008). Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome. J Neurophysiol, 100(5): 2615-2626.
    • (2008) J Neurophysiol , vol.100 , Issue.5 , pp. 2615-2626
    • Gibson, J.R.1    Bartley, A.F.2    Hays, S.A.3    Huber, K.M.4
  • 43
  • 46
    • 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 (2001). A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet, 27(3): 322-326.
    • (2001) Nat Genet , vol.27 , Issue.3 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 51
    • 82455210980 scopus 로고    scopus 로고
    • Detecting abnormalities of corpus callosum connectivity in autism using magnetic resonance imaging and diffusion tensor tractography
    • Hong S, Ke X, Tang T, Hang Y, Chu K, Huang H, Ruan Z, Lu Z, Tao G, Liu Y (2011). Detecting abnormalities of corpus callosum connectivity in autism using magnetic resonance imaging and diffusion tensor tractography. Psychiatry Res, 194(3): 333-339.
    • (2011) Psychiatry Res , vol.194 , Issue.3 , pp. 333-339
    • Hong, S.1    Ke, X.2    Tang, T.3    Hang, Y.4    Chu, K.5    Huang, H.6    Ruan, Z.7    Lu, Z.8    Tao, G.9    Liu, Y.10
  • 52
    • 84888397448 scopus 로고    scopus 로고
    • Immune dysregulation in autism spectrum disorder
    • Hsiao E Y (2013). Immune dysregulation in autism spectrum disorder. Int Rev Neurobiol, 113: 269-302.
    • (2013) Int Rev Neurobiol , vol.113 , pp. 269-302
    • Hsiao, E.Y.1
  • 54
    • 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 (2002). Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci USA, 99(11): 7746-7750.
    • (2002) Proc Natl Acad Sci USA , vol.99 , Issue.11 , pp. 7746-7750
    • Huber, K.M.1    Gallagher, S.M.2    Warren, S.T.3    Bear, M.F.4
  • 55
    • 72049108920 scopus 로고    scopus 로고
    • Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
    • Hutsler J J, Zhang H (2010). Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders. Brain Res, 1309: 83-94.
    • (2010) Brain Res , vol.1309 , pp. 83-94
    • Hutsler, J.J.1    Zhang, H.2
  • 56
    • 0033797832 scopus 로고    scopus 로고
    • Dendritic spine structural anomalies in fragile-X mental retardation syndrome
    • Irwin S A, Galvez R, Greenough W T (2000). Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb Cortex, 10(10): 1038-1044.
    • (2000) Cereb Cortex , vol.10 , Issue.10 , pp. 1038-1044
    • Irwin, S.A.1    Galvez, R.2    Greenough, W.T.3
  • 60
    • 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 (1998b). Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron, 21(4): 799-811.
    • (1998) Neuron , vol.21 , Issue.4 , 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
  • 61
    • 33846923678 scopus 로고    scopus 로고
    • Functional and anatomical cortical underconnectivity in autism: evidence from an FMRI study of an executive function task and corpus callosum morphometry
    • Just M A, Cherkassky V L, Keller T A, Kana R K, Minshew N J (2007). Functional and anatomical cortical underconnectivity in autism: evidence from an FMRI study of an executive function task and corpus callosum morphometry. Cereb Cortex, 17(4): 951-961.
    • (2007) Cereb Cortex , vol.17 , Issue.4 , pp. 951-961
    • Just, M.A.1    Cherkassky, V.L.2    Keller, T.A.3    Kana, R.K.4    Minshew, N.J.5
  • 62
    • 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 (2004). Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity. Brain, 127(Pt 8): 1811-1821.
    • (2004) Brain , vol.127 , Issue.Pt8 , pp. 1811-1821
    • Just, M.A.1    Cherkassky, V.L.2    Keller, T.A.3    Minshew, N.J.4
  • 63
    • 62149111416 scopus 로고    scopus 로고
    • Atypical frontal-posterior synchronization of Theory of Mind regions in autism during mental state attribution
    • Kana R K, Keller T A, Cherkassky V L, Minshew N J, Just M A (2009). Atypical frontal-posterior synchronization of Theory of Mind regions in autism during mental state attribution. Soc Neurosci, 4(2): 135-152.
    • (2009) Soc Neurosci , vol.4 , Issue.2 , pp. 135-152
    • Kana, R.K.1    Keller, T.A.2    Cherkassky, V.L.3    Minshew, N.J.4    Just, M.A.5
  • 64
    • 0000984981 scopus 로고
    • Autistic disturbances of affective contact
    • Kanner L (1943) Autistic disturbances of affective contact. Nervous Child, 2: 217-250.
    • (1943) Nervous Child , vol.2 , pp. 217-250
    • Kanner, L.1
  • 66
    • 54949144402 scopus 로고    scopus 로고
    • The autistic neuron: troubled translation?
    • Kelleher R J 3rd, Bear M F (2008). The autistic neuron: troubled translation? Cell, 135(3): 401-406.
    • (2008) Cell , vol.135 , Issue.3 , pp. 401-406
    • Kelleher III, R.J.1    Bear, M.F.2
  • 68
    • 0032055396 scopus 로고    scopus 로고
    • SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family
    • Kim J H, Liao D, Lau L F, Huganir R L (1998). SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family. Neuron, 20(4): 683-691.
    • (1998) Neuron , vol.20 , Issue.4 , pp. 683-691
    • Kim, J.H.1    Liao, D.2    Lau, L.F.3    Huganir, R.L.4
  • 69
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet, 15(1): 70-73.
    • (1997) Nat Genet , vol.15 , Issue.1 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 71
    • 4143133173 scopus 로고    scopus 로고
    • SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation
    • Krapivinsky G, Medina I, Krapivinsky L, Gapon S, Clapham D E (2004). SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. Neuron, 43(4): 563-574.
    • (2004) Neuron , vol.43 , Issue.4 , pp. 563-574
    • Krapivinsky, G.1    Medina, I.2    Krapivinsky, L.3    Gapon, S.4    Clapham, D.E.5
  • 72
    • 0038263152 scopus 로고    scopus 로고
    • Increased rate of head growth during infancy in autism
    • Lainhart J E (2003). Increased rate of head growth during infancy in autism. JAMA, 290(3): 393-394.
    • (2003) Jama , vol.290 , Issue.3 , pp. 393-394
    • Lainhart, J.E.1
  • 73
    • 34347382583 scopus 로고    scopus 로고
    • Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders
    • Landa R J, Holman K C, Garrett-Mayer E (2007). Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders. Arch Gen Psychiatry, 64(7): 853-864.
    • (2007) Arch Gen Psychiatry , vol.64 , Issue.7 , pp. 853-864
    • Landa, R.J.1    Holman, K.C.2    Garrett-Mayer, E.3
  • 75
    • 33847150438 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: a review
    • Leung A K, Robson W L (2007). Tuberous sclerosis complex: a review. J Pediatr Health Care, 21(2): 108-114.
    • (2007) J Pediatr Health Care , vol.21 , Issue.2 , pp. 108-114
    • Leung, A.K.1    Robson, W.L.2
  • 76
    • 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 (2002). Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency. Mol Cell Neurosci, 19(2): 138-151.
    • (2002) Mol Cell Neurosci , vol.19 , Issue.2 , pp. 138-151
    • Li, J.1    Pelletier, M.R.2    Perez Velazquez, J.L.3    Carlen, P.L.4
  • 77
    • 84892461290 scopus 로고    scopus 로고
    • Tsc1 deficiency-mediated mTOR hyperactivation in vascular endothelial cells causes angiogenesis defects and embryonic lethality
    • Ma A, Wang L, Gao Y, Chang Z, Peng H, Zeng N, Gui Y S, Tian X, Li X, Cai B, Zhang H, Xu K F (2014). Tsc1 deficiency-mediated mTOR hyperactivation in vascular endothelial cells causes angiogenesis defects and embryonic lethality. Hum Mol Genet, 23(3): 693-705.
    • (2014) Hum Mol Genet , vol.23 , Issue.3 , pp. 693-705
    • Ma, A.1    Wang, L.2    Gao, Y.3    Chang, Z.4    Peng, H.5    Zeng, N.6    Gui, Y.S.7    Tian, X.8    Li, X.9    Cai, B.10    Zhang, H.11    Xu, K.F.12
  • 79
    • 79960075356 scopus 로고    scopus 로고
    • Adult neural function requires MeCP2
    • McGraw C M, Samaco R C, Zoghbi H Y (2011). Adult neural function requires MeCP2. Science, 333(6039): 186.
    • (2011) Science , vol.333 , Issue.6039 , pp. 186
    • McGraw, C.M.1    Samaco, R.C.2    Zoghbi, H.Y.3
  • 81
    • 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 (2004). The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin. Neuropharmacology, 47(5): 724-733.
    • (2004) Neuropharmacology , vol.47 , Issue.5 , pp. 724-733
    • Meyer, G.1    Varoqueaux, F.2    Neeb, A.3    Oschlies, M.4    Brose, N.5
  • 82
    • 79955030459 scopus 로고    scopus 로고
    • Autism spectrum disorders-a genetics review
    • Miles J H (2011). Autism spectrum disorders-a genetics review. Genet Med, 13(4): 278-294.
    • (2011) Genet Med , vol.13 , Issue.4 , pp. 278-294
    • Miles, J.H.1
  • 84
    • 37249006214 scopus 로고    scopus 로고
    • Advances in behavioral genetics: mouse models of autism
    • Moy S S, Nadler J J (2008). Advances in behavioral genetics: mouse models of autism. Mol Psychiatry, 13(1): 4-26.
    • (2008) Mol Psychiatry , vol.13 , Issue.1 , pp. 4-26
    • Moy, S.S.1    Nadler, J.J.2
  • 86
    • 77957273984 scopus 로고    scopus 로고
    • Animal models of neuropsychiatric disorders
    • Nestler E J, Hyman S E (2010). Animal models of neuropsychiatric disorders. Nat Neurosci, 13(10): 1161-1169.
    • (2010) Nat Neurosci , vol.13 , Issue.10 , pp. 1161-1169
    • Nestler, E.J.1    Hyman, S.E.2
  • 89
    • 77954851827 scopus 로고    scopus 로고
    • Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome
    • Olmos-Serrano J L, Paluszkiewicz S M, Martin B S, Kaufmann W E, Corbin J G, Huntsman M M (2010). Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci, 30(29): 9929-9938.
    • (2010) J Neurosci , vol.30 , Issue.29 , pp. 9929-9938
    • Olmos-Serrano, J.L.1    Paluszkiewicz, S.M.2    Martin, B.S.3    Kaufmann, W.E.4    Corbin, J.G.5    Huntsman, M.M.6
  • 90
    • 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 (1999). Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest, 104(6): 687-695.
    • (1999) J Clin Invest , vol.104 , Issue.6 , pp. 687-695
    • Onda, H.1    Lueck, A.2    Marks, P.W.3    Warren, H.B.4    Kwiatkowski, D.J.5
  • 91
    • 84872716739 scopus 로고    scopus 로고
    • Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome
    • Osterweil E K, Chuang S C, Chubykin A A, Sidorov M, Bianchi R, Wong R K, Bear M F (2013). Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome. Neuron, 77(2): 243-250.
    • (2013) Neuron , vol.77 , Issue.2 , pp. 243-250
    • Osterweil, E.K.1    Chuang, S.C.2    Chubykin, A.A.3    Sidorov, M.4    Bianchi, R.5    Wong, R.K.6    Bear, M.F.7
  • 92
    • 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 E K, Krueger D D, Reinhold K, Bear M F (2010). Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. J Neurosci, 30(46): 15616-15627.
    • (2010) J Neurosci , vol.30 , Issue.46 , pp. 15616-15627
    • Osterweil, E.K.1    Krueger, D.D.2    Reinhold, K.3    Bear, M.F.4
  • 93
    • 84889762342 scopus 로고    scopus 로고
    • Altered structural and functional synaptic plasticity with motor skill learning in a mouse model of fragile X syndrome
    • Padmashri R, Reiner B C, Suresh A, Spartz E, Dunaevsky A (2013). Altered structural and functional synaptic plasticity with motor skill learning in a mouse model of fragile X syndrome. J Neurosci, 33(50): 19715-19723.
    • (2013) J Neurosci , vol.33 , Issue.50 , pp. 19715-19723
    • Padmashri, R.1    Reiner, B.C.2    Suresh, A.3    Spartz, E.4    Dunaevsky, A.5
  • 94
    • 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 GM, Greenough WT, Gan WB (2010). Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome. Proc Natl Acad Sci USA, 107(41): 17768-17773.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.41 , pp. 17768-17773
    • Pan, F.1    Aldridge, G.M.2    Greenough, W.T.3    Gan, W.B.4
  • 95
    • 79952448912 scopus 로고    scopus 로고
    • Maternal immune activation and autism spectrum disorder: interleukin-6 signaling as a key mechanistic pathway
    • Parker-Athill E C, Tan J (2010). Maternal immune activation and autism spectrum disorder: interleukin-6 signaling as a key mechanistic pathway. Neurosignals, 18(2): 113-128.
    • (2010) Neurosignals , vol.18 , Issue.2 , pp. 113-128
    • Parker-Athill, E.C.1    Tan, J.2
  • 98
    • 33947537457 scopus 로고    scopus 로고
    • Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation
    • Pfeiffer B E, Huber K M (2007). Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation. J Neurosci, 27(12): 3120-3130.
    • (2007) J Neurosci , vol.27 , Issue.12 , pp. 3120-3130
    • Pfeiffer, B.E.1    Huber, K.M.2
  • 99
    • 84881248686 scopus 로고    scopus 로고
    • Neurodegenerative disorders and metabolic disease
    • Pierre G (2013). Neurodegenerative disorders and metabolic disease. Arch Dis Child, 98(8): 618-624.
    • (2013) Arch Dis Child , vol.98 , Issue.8 , pp. 618-624
    • Pierre, G.1
  • 100
    • 74049143578 scopus 로고    scopus 로고
    • Neural systems approaches to the neurogenetics of autism spectrum disorders
    • Piggot J, Shirinyan D, Shemmassian S, Vazirian S, Alarcón M (2009). Neural systems approaches to the neurogenetics of autism spectrum disorders. Neuroscience, 164(1): 247-256.
    • (2009) Neuroscience , vol.164 , Issue.1 , pp. 247-256
    • Piggot, J.1    Shirinyan, D.2    Shemmassian, S.3    Vazirian, S.4    Alarcón, M.5
  • 102
    • 0033396331 scopus 로고    scopus 로고
    • Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels
    • Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer J L, Trimmer J S, Shrager P, Peles E (1999). Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron, 24(4): 1037-1047.
    • (1999) Neuron , vol.24 , Issue.4 , pp. 1037-1047
    • Poliak, S.1    Gollan, L.2    Martinez, R.3    Custer, A.4    Einheber, S.5    Salzer, J.L.6    Trimmer, J.S.7    Shrager, P.8    Peles, E.9
  • 104
    • 19044372933 scopus 로고    scopus 로고
    • Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse
    • Qin M, Kang J, Burlin T V, Jiang C, Smith C B (2005). Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse. J Neurosci, 25(20): 5087-5095.
    • (2005) J Neurosci , vol.25 , Issue.20 , pp. 5087-5095
    • Qin, M.1    Kang, J.2    Burlin, T.V.3    Jiang, C.4    Smith, C.B.5
  • 107
    • 0000776769 scopus 로고
    • The role of models in science
    • Rosenblueth A W N, Wiener N (1945). The role of models in science. Philos Sci, 12(4): 316-321.
    • (1945) Philos Sci , vol.12 , Issue.4 , pp. 316-321
    • Rosenblueth, A.W.N.1    Wiener, N.2
  • 108
    • 17044378032 scopus 로고    scopus 로고
    • Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons
    • Roussignol G, Ango F, Romorini S, Tu J C, Sala C, Worley P F, Bockaert J, Fagni L (2005). Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons. J Neurosci, 25(14): 3560-3570.
    • (2005) J Neurosci , vol.25 , Issue.14 , pp. 3560-3570
    • Roussignol, G.1    Ango, F.2    Romorini, S.3    Tu, J.C.4    Sala, C.5    Worley, P.F.6    Bockaert, J.7    Fagni, L.8
  • 109
    • 77949418629 scopus 로고    scopus 로고
    • Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder
    • Rubenstein J L (2010). Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder. Curr Opin Neurol, 23(2): 118-123.
    • (2010) Curr Opin Neurol , vol.23 , Issue.2 , pp. 118-123
    • Rubenstein, J.L.1
  • 110
    • 0242291090 scopus 로고    scopus 로고
    • Model of autism: increased ratio of excitation/inhibition in key neural systems
    • Rubenstein J L, Merzenich M M (2003). Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav, 2(5): 255-267.
    • (2003) Genes Brain Behav , vol.2 , Issue.5 , pp. 255-267
    • Rubenstein, J.L.1    Merzenich, M.M.2
  • 111
    • 33645217296 scopus 로고    scopus 로고
    • SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons
    • Rumbaugh G, Adams J P, Kim J H, Huganir R L (2006). SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons. Proc Natl Acad Sci USA, 103(12): 4344-4351.
    • (2006) Proc Natl Acad Sci USA , vol.103 , Issue.12 , pp. 4344-4351
    • Rumbaugh, G.1    Adams, J.P.2    Kim, J.H.3    Huganir, R.L.4
  • 112
    • 71549138076 scopus 로고    scopus 로고
    • Neuroimaging of the functional and structural networks underlying visuospatial vs. linguistic reasoning in high-functioning autism
    • Sahyoun C P, Belliveau J W, Soulières I, Schwartz S, Mody M (2010). Neuroimaging of the functional and structural networks underlying visuospatial vs. linguistic reasoning in high-functioning autism. Neuropsychologia, 48(1): 86-95.
    • (2010) Neuropsychologia , vol.48 , Issue.1 , pp. 86-95
    • Sahyoun, C.P.1    Belliveau, J.W.2    Soulières, I.3    Schwartz, S.4    Mody, M.5
  • 114
    • 0034044563 scopus 로고    scopus 로고
    • The Shank family of scaffold proteins
    • Sheng M, Kim E (2000). The Shank family of scaffold proteins. J Cell Sci, 113(Pt 11): 1851-1856.
    • (2000) J Cell Sci , vol.113 , Issue.Pt11 , pp. 1851-1856
    • Sheng, M.1    Kim, E.2
  • 115
    • 79751518985 scopus 로고    scopus 로고
    • Tract-specific analyses of diffusion tensor imaging show widespread white matter compromise in autism spectrum disorder
    • Shukla D K, Keehn B, Müller R A (2011a). Tract-specific analyses of diffusion tensor imaging show widespread white matter compromise in autism spectrum disorder. J Child Psychol Psychiatry, 52(3): 286-295.
    • (2011) J Child Psychol Psychiatry , vol.52 , Issue.3 , pp. 286-295
    • Shukla, D.K.1    Keehn, B.2    Müller, R.A.3
  • 116
    • 79954423671 scopus 로고    scopus 로고
    • Microstructural abnormalities of short-distance white matter tracts in autism spectrum disorder
    • Shukla D K, Keehn B, Smylie DM, Müller R A (2011b). Microstructural abnormalities of short-distance white matter tracts in autism spectrum disorder. Neuropsychologia, 49(5): 1378-1382.
    • (2011) Neuropsychologia , vol.49 , Issue.5 , pp. 1378-1382
    • Shukla, D.K.1    Keehn, B.2    Smylie, D.M.3    Müller, R.A.4
  • 117
    • 77953800799 scopus 로고    scopus 로고
    • Behavioural phenotyping assays for mouse models of autism
    • Silverman J L, Yang M, Lord C, Crawley J N (2010). Behavioural phenotyping assays for mouse models of autism. Nat Rev Neurosci, 11(7): 490-502.
    • (2010) Nat Rev Neurosci , vol.11 , Issue.7 , pp. 490-502
    • Silverman, J.L.1    Yang, M.2    Lord, C.3    Crawley, J.N.4
  • 120
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • Südhof T C (2008). Neuroligins and neurexins link synaptic function to cognitive disease. Nature, 455(7215): 903-911.
    • (2008) Nature , vol.455 , Issue.7215 , pp. 903-911
    • Südhof, T.C.1
  • 121
    • 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, Südhof T C (2007). A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science, 318(5847): 71-76.
    • (2007) Science , vol.318 , Issue.5847 , pp. 71-76
    • Tabuchi, K.1    Blundell, J.2    Etherton, M.R.3    Hammer, R.E.4    Liu, X.5    Powell, C.M.6    Südhof, T.C.7
  • 122
    • 79956091202 scopus 로고    scopus 로고
    • The anatomy of the callosal and visual-association pathways in highfunctioning autism: a DTI tractography study
    • Thomas C, Humphreys K, Jung K J, Minshew N, Behrmann M (2011). The anatomy of the callosal and visual-association pathways in highfunctioning autism: a DTI tractography study. Cortex, 47(7): 863-873.
    • (2011) Cortex , vol.47 , Issue.7 , pp. 863-873
    • Thomas, C.1    Humphreys, K.2    Jung, K.J.3    Minshew, N.4    Behrmann, M.5
  • 127
    • 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 (2012). Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects. Neuron, 74(5): 793-800.
    • (2012) Neuron , vol.74 , Issue.5 , pp. 793-800
    • Wallace, M.L.1    Burette, A.C.2    Weinberg, R.J.3    Philpot, B.D.4
  • 128
    • 54949129840 scopus 로고    scopus 로고
    • Autism and brain development
    • Walsh C A, Morrow E M, Rubenstein J L (2008). Autism and brain development. Cell, 135(3): 396-400.
    • (2008) Cell , vol.135 , Issue.3 , pp. 396-400
    • Walsh, C.A.1    Morrow, E.M.2    Rubenstein, J.L.3
  • 131
    • 84879461420 scopus 로고    scopus 로고
    • 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment
    • Writzl K, Knegt A C (2013). 6p21. 3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment. Am J Med Genet A, 161A(7): 1682-1685.
    • (2013) Am J Med Genet A , vol.161 A , Issue.7 , pp. 1682-1685
    • Writzl, K.1    Knegt, A.C.2
  • 135
    • 0242300623 scopus 로고    scopus 로고
    • Postnatal neurodevelopmental disorders: meeting at the synapse?
    • Zoghbi H Y (2003). Postnatal neurodevelopmental disorders: meeting at the synapse? Science, 302(5646): 826-830.
    • (2003) Science , vol.302 , Issue.5646 , pp. 826-830
    • Zoghbi, H.Y.1
  • 136
    • 84862659562 scopus 로고    scopus 로고
    • Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
    • Zoghbi H Y, Bear M F (2012). Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol, 4(3): 4.
    • (2012) Cold Spring Harb Perspect Biol , vol.4 , Issue.3 , pp. 4
    • Zoghbi, H.Y.1    Bear, M.F.2


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