메뉴 건너뛰기




Volumn 28, Issue 2, 2015, Pages 91-102

Autism and the synapse: Emerging mechanisms and mechanism-based therapies

Author keywords

Angelman syndrome; Autism spectrum disorder; Clinical trials; Fragile X syndrome; Genetics; Intellectual disability; Neurobiology; Phelan McDermid syndrome; SHANK3; Synapse; Tuberous sclerosis complex

Indexed keywords

6 QUINOXALINECARBOXYLIC ACID PIPERIDIDE; ACAMPROSATE; ARBACLOFEN; ARIPIPRAZOLE; BASIMGLURANT; CITALOPRAM; DONEPEZIL; EVEROLIMUS; GANAXOLONE; LEVODOPA; MAVOGLURANT; MECAMYLAMINE; MEMANTINE; MINOCYCLINE; RAPAMYCIN; RILUZOLE; SCAFFOLD PROTEIN; SOMATOMEDIN C;

EID: 84926336177     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0000000000000186     Document Type: Review
Times cited : (137)

References (107)
  • 2
    • 0003472502 scopus 로고    scopus 로고
    • American Psychiatric Association 5th ed. Washington, DC: American Psychiatric Association
    • American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013.
    • (2013) Diagnostic and Statistical Manual of Mental Disorders
  • 3
    • 84912144889 scopus 로고    scopus 로고
    • Synaptic, transcriptional and chromatin genes disrupted in autism
    • De Rubeis S, He X, Goldberg AP, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014; 515:209-215.
    • (2014) Nature , vol.515 , pp. 209-215
    • De Rubeis, S.1    He, X.2    Goldberg, A.P.3
  • 4
    • 84899918742 scopus 로고    scopus 로고
    • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
    • Pinto D, Delaby E, Merico D, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 2014; 94:677-694.
    • (2014) Am J Hum Genet , vol.94 , pp. 677-694
    • Pinto, D.1    Delaby, E.2    Merico, D.3
  • 5
    • 84872617263 scopus 로고    scopus 로고
    • Exaggerated translation causes synaptic and behavioural aberrations associated with autism
    • Santini E, Huynh TN, MacAskill AF, et al. Exaggerated translation causes synaptic and behavioural aberrations associated with autism. Nature 2013; 493:411-415.
    • (2013) Nature , vol.493 , pp. 411-415
    • Santini, E.1    Huynh, T.N.2    Macaskill, A.F.3
  • 6
    • 84862803170 scopus 로고    scopus 로고
    • New perspectives on the biology of fragile X syndrome
    • Wang T, Bray SM, Warren ST. New perspectives on the biology of fragile X syndrome. Curr Opin Genet Dev 2012; 22:256-263.
    • (2012) Curr Opin Genet Dev , vol.22 , pp. 256-263
    • Wang, T.1    Bray, S.M.2    Warren, S.T.3
  • 7
    • 80955145685 scopus 로고    scopus 로고
    • Advances in understanding fragile X syndrome and related disorders
    • Rooms L, Kooy RF. Advances in understanding fragile X syndrome and related disorders. Curr Opin Pediatr 2011; 23:601-606.
    • (2011) Curr Opin Pediatr , vol.23 , pp. 601-606
    • Rooms, L.1    Kooy, R.F.2
  • 8
    • 84862637069 scopus 로고    scopus 로고
    • The pathophysiology of fragile X (and what it teaches us about synapses)
    • Bhakar AL, Dolen G, Bear MF. The pathophysiology of fragile X (and what it teaches us about synapses). Annu Rev Neurosci 2012; 35:417-443.
    • (2012) Annu Rev Neurosci , vol.35 , pp. 417-443
    • Bhakar, A.L.1    Dolen, G.2    Bear, M.F.3
  • 9
    • 66349102242 scopus 로고    scopus 로고
    • Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation
    • Hernandez RN, Feinberg RL, Vaurio R, et al. Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation. Am J Med Genet A 2009; 149A:1125-1137.
    • (2009) Am J Med Genet A , vol.149 A , pp. 1125-1137
    • Hernandez, R.N.1    Feinberg, R.L.2    Vaurio, R.3
  • 11
    • 84931560678 scopus 로고    scopus 로고
    • Symptoms of autism in males with fragile X syndrome: A comparison to nonsyndromic ASD using current ADI-R scores
    • [Epub ahead of print]
    • McDuffie A, Thurman AJ, Hagerman RJ, Abbeduto L. Symptoms of autism in males with fragile X syndrome: A comparison to nonsyndromic ASD using current ADI-R scores. J Autism Dev Disord 2014. [Epub ahead of print]. doi: 10.1007/s10803-013-2013-6.
    • (2014) J Autism Dev Disord
    • McDuffie, A.1    Thurman, A.J.2    Hagerman, R.J.3    Abbeduto, L.4
  • 12
    • 79960779323 scopus 로고    scopus 로고
    • FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
    • Darnell JC, Van Driesche SJ, Zhang C, et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 2011; 146:247-261.
    • (2011) Cell , vol.146 , pp. 247-261
    • Darnell, J.C.1    Van Driesche, S.J.2    Zhang, C.3
  • 13
    • 84856879093 scopus 로고    scopus 로고
    • Molecular mechanisms of fragile X syndrome: A twenty-year perspective
    • Santoro MR, Bray SM, Warren ST. Molecular mechanisms of fragile X syndrome: A twenty-year perspective. Annu Rev Pathol 2012; 7:219-245.
    • (2012) Annu Rev Pathol , vol.7 , pp. 219-245
    • Santoro, M.R.1    Bray, S.M.2    Warren, S.T.3
  • 14
    • 0033797832 scopus 로고    scopus 로고
    • Dendritic spine structural anomalies in fragile-X mental retardation syndrome
    • Irwin SA, Galvez R, Greenough WT. Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb Cortex 2000; 10:1038-1044.
    • (2000) Cereb Cortex , vol.10 , pp. 1038-1044
    • Irwin, S.A.1    Galvez, R.2    Greenough, W.T.3
  • 15
    • 33746196574 scopus 로고    scopus 로고
    • Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond
    • Grossman AW, Aldridge GM, Weiler IJ, Greenough WT. Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond. J Neurosci 2006; 26:7151-7155.
    • (2006) J Neurosci , vol.26 , pp. 7151-7155
    • Grossman, A.W.1    Aldridge, G.M.2    Weiler, I.J.3    Greenough, W.T.4
  • 16
    • 84894416065 scopus 로고    scopus 로고
    • Postsynaptic FMRP promotes the pruning of cell-to-cell connections among pyramidal neurons in the L5A neocortical network
    • Patel AB, Loerwald KW, Huber KM, Gibson JR. Postsynaptic FMRP promotes the pruning of cell-to-cell connections among pyramidal neurons in the L5A neocortical network. J Neurosci 2014; 34:3413-3418.
    • (2014) J Neurosci , vol.34 , pp. 3413-3418
    • Patel, A.B.1    Loerwald, K.W.2    Huber, K.M.3    Gibson, J.R.4
  • 17
    • 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 BC, Suresh A, et al. Altered structural and functional synaptic plasticity with motor skill learning in a mouse model of fragile X syndrome. J Neurosci 2013; 33:19715-19723.
    • (2013) J Neurosci , vol.33 , pp. 19715-19723
    • Padmashri, R.1    Reiner, B.C.2    Suresh, A.3
  • 18
    • 79551594543 scopus 로고    scopus 로고
    • Toward fulfilling the promise of molecular medicine in fragile X syndrome
    • Krueger DD, Bear MF. Toward fulfilling the promise of molecular medicine in fragile X syndrome. Annu Rev Med 2011; 62:411-429.
    • (2011) Annu Rev Med , vol.62 , pp. 411-429
    • Krueger, D.D.1    Bear, M.F.2
  • 19
    • 84868214380 scopus 로고    scopus 로고
    • Fragile X syndrome: Mechanistic insights and therapeutic avenues regarding the role of potassium channels
    • Lee HY, Jan LY. Fragile X syndrome: mechanistic insights and therapeutic avenues regarding the role of potassium channels. Curr Opin Neurobiol 2012; 22:887-894.
    • (2012) Curr Opin Neurobiol , vol.22 , pp. 887-894
    • Lee, H.Y.1    Jan, L.Y.2
  • 20
    • 13844316424 scopus 로고    scopus 로고
    • The fragile X mental retardation protein and group i metabotropic glutamate receptors regulate levels of mRNA granules in brain
    • Aschrafi A, Cunningham BA, Edelman GM, Vanderklish PW. The fragile X mental retardation protein and group I metabotropic glutamate receptors regulate levels of mRNA granules in brain. Proc Natl Acad Sci USA 2005; 102:2180-2185.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 2180-2185
    • Aschrafi, A.1    Cunningham, B.A.2    Edelman, G.M.3    Vanderklish, P.W.4
  • 21
    • 78449259794 scopus 로고    scopus 로고
    • Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome
    • Osterweil EK, Krueger DD, Reinhold K, Bear MF. Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. J Neurosci 2010; 30:15616-15627.
    • (2010) J Neurosci , vol.30 , pp. 15616-15627
    • Osterweil, E.K.1    Krueger, D.D.2    Reinhold, K.3    Bear, M.F.4
  • 22
    • 37049032616 scopus 로고    scopus 로고
    • Correction of fragile X syndrome in mice
    • Dolen G, Osterweil E, Rao BS, et al. Correction of fragile X syndrome in mice. Neuron 2007; 56:955-962.
    • (2007) Neuron , vol.56 , pp. 955-962
    • Dolen, G.1    Osterweil, E.2    Rao, B.S.3
  • 23
    • 84860358233 scopus 로고    scopus 로고
    • Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism
    • Silverman JL, Smith DG, Rizzo SJ, et al. Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism. Sci Transl Med 2012; 4:131ra151.
    • (2012) Sci Transl Med , vol.4 , pp. 131ra151
    • Silverman, J.L.1    Smith, D.G.2    Rizzo, S.J.3
  • 26
    • 49849098290 scopus 로고    scopus 로고
    • FMRP acts as a key messenger for dopamine modulation in the forebrain
    • Wang H, Wu LJ, Kim SS, et al. FMRP acts as a key messenger for dopamine modulation in the forebrain. Neuron 2008; 59:634-647.
    • (2008) Neuron , vol.59 , pp. 634-647
    • Wang, H.1    Wu, L.J.2    Kim, S.S.3
  • 27
    • 84873739255 scopus 로고    scopus 로고
    • Dampened dopamine-mediated neuromodulation in prefrontal cortex of fragileX mice
    • Paul K, Venkitaramani DV, Cox CL. Dampened dopamine-mediated neuromodulation in prefrontal cortex of fragileX mice. J Physiol 2013; 591:1133-1143.
    • (2013) J Physiol , vol.591 , pp. 1133-1143
    • Paul, K.1    Venkitaramani, D.V.2    Cox, C.L.3
  • 28
    • 77954368724 scopus 로고    scopus 로고
    • Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization
    • Wang H, Kim SS, Zhuo M. Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization. J Biol Chem 2010; 285:21888-21901.
    • (2010) J Biol Chem , vol.285 , pp. 21888-21901
    • Wang, H.1    Kim, S.S.2    Zhuo, M.3
  • 29
    • 42649085026 scopus 로고    scopus 로고
    • Abnormal striatal GABA transmission in the mouse model for the fragile X syndrome
    • Centonze D, Rossi S,Mercaldo V, et al. Abnormal striatal GABA transmission in the mouse model for the fragile X syndrome. Biol Psychiatry 2008; 63:963-973.
    • (2008) Biol Psychiatry , vol.63 , pp. 963-973
    • Centonze, D.1    Rossi, S.2    Mercaldo, V.3
  • 30
    • 67649427508 scopus 로고    scopus 로고
    • Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome
    • Curia G, Papouin T, Seguela P, Avoli M. Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome. Cereb Cortex 2009; 19:1515-1520.
    • (2009) Cereb Cortex , vol.19 , pp. 1515-1520
    • Curia, G.1    Papouin, T.2    Seguela, P.3    Avoli, M.4
  • 31
    • 79959922922 scopus 로고    scopus 로고
    • A prospective open-label study of aripiprazole in fragile X syndrome
    • Erickson CA, Stigler KA, Wink LK, et al. A prospective open-label study of aripiprazole in fragile X syndrome. Psychopharmacology (Berl) 2011; 216:85-90.
    • (2011) Psychopharmacology (Berl) , vol.216 , pp. 85-90
    • Erickson, C.A.1    Stigler, K.A.2    Wink, L.K.3
  • 32
    • 84893485922 scopus 로고    scopus 로고
    • Pharmacological rescue of Ras signaling, GluA1-dependent synaptic plasticity, and learning deficits in a fragile X model
    • Lim CS, Hoang ET, Viar KE, et al. Pharmacological rescue of Ras signaling, GluA1-dependent synaptic plasticity, and learning deficits in a fragile X model. Genes Dev 2014; 28:273-289.
    • (2014) Genes Dev , vol.28 , pp. 273-289
    • Lim, C.S.1    Hoang, E.T.2    Viar, K.E.3
  • 33
    • 33750726094 scopus 로고    scopus 로고
    • Decreased expression of the GABAA receptor in fragile X syndrome
    • D'Hulst C, De Geest N, Reeve SP, et al. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res 2006; 1121:238-245.
    • (2006) Brain Res , vol.1121 , pp. 238-245
    • D'Hulst, C.1    De Geest, N.2    Reeve, S.P.3
  • 34
    • 77954143021 scopus 로고    scopus 로고
    • Early developmental alterations in GABAergic protein expression in fragile X knockout mice
    • Adusei DC, Pacey LK, Chen D, Hampson DR. Early developmental alterations in GABAergic protein expression in fragile X knockout mice. Neuropharmacology 2010; 59:167-171.
    • (2010) Neuropharmacology , vol.59 , pp. 167-171
    • Adusei, D.C.1    Pacey, L.K.2    Chen, D.3    Hampson, D.R.4
  • 35
    • 84874256375 scopus 로고    scopus 로고
    • FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels
    • Deng PY, Rotman Z, Blundon JA, et al. FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels. Neuron 2013; 77:696-711.
    • (2013) Neuron , vol.77 , pp. 696-711
    • Deng, P.Y.1    Rotman, Z.2    Blundon, J.A.3
  • 36
    • 84908232014 scopus 로고    scopus 로고
    • The neurology of mTOR
    • Lipton JO, Sahin M. The neurology of mTOR. Neuron 2014; 84:275-291.
    • (2014) Neuron , vol.84 , pp. 275-291
    • Lipton, J.O.1    Sahin, M.2
  • 37
    • 74949102875 scopus 로고    scopus 로고
    • Dysregulation of mTOR signaling in fragile X syndrome
    • Sharma A, Hoeffer CA, Takayasu Y, et al. Dysregulation of mTOR signaling in fragile X syndrome. J Neurosci 2010; 30:694-702.
    • (2010) J Neurosci , vol.30 , pp. 694-702
    • Sharma, A.1    Hoeffer, C.A.2    Takayasu, Y.3
  • 38
    • 84894377843 scopus 로고    scopus 로고
    • Analysis of FMR1 deletion in a subpopulation of postmitotic neurons in mouse cortex and hippocampus
    • Amiri A, Sanchez-Ortiz E, Cho W, et al. Analysis of FMR1 deletion in a subpopulation of postmitotic 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
  • 39
    • 84911368657 scopus 로고    scopus 로고
    • Identification of fragile X syndrome specific molecular markers in human fibroblasts: A useful model to test the efficacy of therapeutic drugs
    • Kumari D, Bhattacharya A, Nadel J, et al. Identification of fragile X syndrome specific molecular markers in human fibroblasts: A useful model to test the efficacy of therapeutic drugs. Hum Mutat 2014; 35:1485-1494.
    • (2014) Hum Mutat , vol.35 , pp. 1485-1494
    • Kumari, D.1    Bhattacharya, A.2    Nadel, J.3
  • 40
    • 84867736998 scopus 로고    scopus 로고
    • Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice
    • Bhattacharya A, Kaphzan H, Alvarez-Dieppa AC, et al. Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. Neuron 2012; 76:325-337.
    • (2012) Neuron , vol.76 , pp. 325-337
    • Bhattacharya, A.1    Kaphzan, H.2    Alvarez-Dieppa, A.C.3
  • 41
    • 77956209418 scopus 로고    scopus 로고
    • Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome
    • Gross C, Nakamoto M, Yao X, et al. Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome. J Neurosci 2010; 30:10624-10638.
    • (2010) J Neurosci , vol.30 , pp. 10624-10638
    • Gross, C.1    Nakamoto, M.2    Yao, X.3
  • 42
    • 84872716739 scopus 로고    scopus 로고
    • Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome
    • Osterweil EK, Chuang SC, Chubykin AA, et al. Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome. Neuron 2013; 77:243-250.
    • (2013) Neuron , vol.77 , pp. 243-250
    • Osterweil, E.K.1    Chuang, S.C.2    Chubykin, A.A.3
  • 43
    • 20044388322 scopus 로고    scopus 로고
    • Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome
    • McBride SM, Choi CH, Wang Y, et al. Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron 2005; 45:753-764.
    • (2005) Neuron , vol.45 , pp. 753-764
    • McBride, S.M.1    Choi, C.H.2    Wang, Y.3
  • 44
    • 84884988657 scopus 로고    scopus 로고
    • Lithium treatment alleviates impaired cognition in a mouse model of fragile X syndrome
    • King MK, Jope RS. Lithium treatment alleviates impaired cognition in a mouse model of fragile X syndrome. Genes Brain Behav 2013; 12:723-731.
    • (2013) Genes Brain Behav , vol.12 , pp. 723-731
    • King, M.K.1    Jope, R.S.2
  • 45
    • 84862783882 scopus 로고    scopus 로고
    • Lithium reverses increased rates of cerebral protein synthesis in a mouse model of fragile X syndrome
    • Liu ZH, Huang T, Smith CB. Lithium reverses increased rates of cerebral protein synthesis in a mouse model of fragile X syndrome. Neurobiol Dis 2012; 45:1145-1152.
    • (2012) Neurobiol Dis , vol.45 , pp. 1145-1152
    • Liu, Z.H.1    Huang, T.2    Smith, C.B.3
  • 46
    • 79952315521 scopus 로고    scopus 로고
    • Pharmacological reversal of synaptic plasticity deficits in the mouse model of fragile X syndrome by group II mGluR antagonist or lithium treatment
    • Choi CH, Schoenfeld BP, Bell AJ, et al. Pharmacological reversal of synaptic plasticity deficits in the mouse model of fragile X syndrome by group II mGluR antagonist or lithium treatment. Brain Res 2011; 1380:106-119.
    • (2011) Brain Res , vol.1380 , pp. 106-119
    • Choi, C.H.1    Schoenfeld, B.P.2    Bell, A.J.3
  • 47
    • 58849126410 scopus 로고    scopus 로고
    • Elevated glycogen synthase kinase-3 activity in Fragile X mice: Key metabolic regulator with evidence for treatment potential
    • Min WW, Yuskaitis CJ, Yan Q, et al. Elevated glycogen synthase kinase-3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential. Neuropharmacology 2009; 56:463-472.
    • (2009) Neuropharmacology , vol.56 , pp. 463-472
    • Min, W.W.1    Yuskaitis, C.J.2    Yan, Q.3
  • 48
    • 51249098804 scopus 로고    scopus 로고
    • Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome
    • Berry-Kravis E, Sumis A, Hervey C, et al. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr 2008; 29:293-302.
    • (2008) J Dev Behav Pediatr , vol.29 , pp. 293-302
    • Berry-Kravis, E.1    Sumis, A.2    Hervey, C.3
  • 49
    • 84884522817 scopus 로고    scopus 로고
    • International Tuberous Sclerosis Complex Consensus G: Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
    • Northrup H, Krueger DA. International Tuberous Sclerosis Complex Consensus G: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013; 49:243-254.
    • (2013) Pediatr Neurol , vol.49 , pp. 243-254
    • Northrup, H.1    Krueger, D.A.2
  • 50
    • 84919326555 scopus 로고    scopus 로고
    • Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist
    • de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist. Pediatr Neurol 2015; 52:25-35.
    • (2015) Pediatr Neurol , vol.52 , pp. 25-35
    • De Vries, P.J.1    Whittemore, V.H.2    Leclezio, L.3
  • 51
    • 84878867454 scopus 로고    scopus 로고
    • Evolving neurobiology of tuberous sclerosis complex
    • Crino PB. Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol 2013; 125:317-332.
    • (2013) Acta Neuropathol , vol.125 , pp. 317-332
    • Crino, P.B.1
  • 52
    • 84865371057 scopus 로고    scopus 로고
    • TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1
    • Dibble CC, Elis W, Menon S, et al. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell 2012; 47:535-546.
    • (2012) Mol Cell , vol.47 , pp. 535-546
    • Dibble, C.C.1    Elis, W.2    Menon, S.3
  • 53
    • 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 RM, McKenna J, WuH, et al. 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
  • 54
    • 84865508373 scopus 로고    scopus 로고
    • Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
    • Tsai PT, Hull C, Chu Y, et al. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature 2012; 488:647-651.
    • (2012) Nature , vol.488 , pp. 647-651
    • Tsai, P.T.1    Hull, C.2    Chu, Y.3
  • 55
    • 49149088555 scopus 로고    scopus 로고
    • Reversal of learning deficits in a Tsc2/-mouse model of tuberous sclerosis
    • Ehninger D, Han S, Shilyansky C, et al. Reversal of learning deficits in a Tsc2/-mouse model of tuberous sclerosis. Nat Med 2008; 14:843-848.
    • (2008) Nat Med , vol.14 , pp. 843-848
    • Ehninger, D.1    Han, S.2    Shilyansky, C.3
  • 56
    • 37849049287 scopus 로고    scopus 로고
    • Cognitive deficits in Tsc1/-mice in the absence of cerebral lesions and seizures
    • Goorden SM, van Woerden GM, van der Weerd L, et al. Cognitive deficits in Tsc1/-mice in the absence of cerebral lesions and seizures. Ann Neurol 2007; 62:648-655.
    • (2007) Ann Neurol , vol.62 , pp. 648-655
    • Goorden, S.M.1    Van Woerden, G.M.2    Van Der Weerd, L.3
  • 57
    • 28044456974 scopus 로고    scopus 로고
    • Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
    • Tavazoie SF, Alvarez VA, Ridenour DA, et al. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci 2005; 8:1727-1734.
    • (2005) Nat Neurosci , vol.8 , pp. 1727-1734
    • Tavazoie, S.F.1    Alvarez, V.A.2    Ridenour, D.A.3
  • 58
    • 84901942009 scopus 로고    scopus 로고
    • Activation of Rheb, but not of mTORC1, impairs spine synapse morphogenesis in tuberous sclerosis complex
    • Yasuda S, Sugiura H, Katsurabayashi S, et al. Activation of Rheb, but not of mTORC1, impairs spine synapse morphogenesis in tuberous sclerosis complex. Sci Rep 2014; 4:5155.
    • (2014) Sci Rep , vol.4 , pp. 5155
    • Yasuda, S.1    Sugiura, H.2    Katsurabayashi, S.3
  • 59
    • 51949094890 scopus 로고    scopus 로고
    • Tuberous sclerosis complex proteins control axon formation
    • Choi YJ, Di Nardo A, Kramvis I, et al. Tuberous sclerosis complex proteins control axon formation. Genes Dev 2008; 22:2485-2495.
    • (2008) Genes Dev , vol.22 , pp. 2485-2495
    • Choi, Y.J.1    Di Nardo, A.2    Kramvis, I.3
  • 60
    • 75549085357 scopus 로고    scopus 로고
    • Tsc2-Rheb signaling regulates EphAmediated axon guidance
    • Nie D, Di Nardo A, Han JM, et al. Tsc2-Rheb signaling regulates EphAmediated axon guidance. Nat Neurosci 2010; 13:163-172.
    • (2010) Nat Neurosci , vol.13 , pp. 163-172
    • Nie, D.1    Di Nardo, A.2    Han, J.M.3
  • 61
    • 84907987626 scopus 로고    scopus 로고
    • Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits
    • Tang G, Gudsnuk K, Kuo SH, et al. Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron 2014; 83:1131-1143.
    • (2014) Neuron , vol.83 , pp. 1131-1143
    • Tang, G.1    Gudsnuk, K.2    Kuo, S.H.3
  • 62
    • 84900393290 scopus 로고    scopus 로고
    • Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases
    • Ebrahimi-Fakhari D, Wahlster L, Hoffmann GF, Kolker S. Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. Pediatr Res 2014; 75:217-226.
    • (2014) Pediatr Res , vol.75 , pp. 217-226
    • Ebrahimi-Fakhari, D.1    Wahlster, L.2    Hoffmann, G.F.3    Kolker, S.4
  • 63
    • 84902960412 scopus 로고    scopus 로고
    • Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1
    • Di Nardo A, Wertz MH, Kwiatkowski E, et al. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet 2014; 23:3865-3874.
    • (2014) Hum Mol Genet , vol.23 , pp. 3865-3874
    • Di Nardo, A.1    Wertz, M.H.2    Kwiatkowski, E.3
  • 64
    • 84865860748 scopus 로고    scopus 로고
    • Protein degradation pathways in Parkinson's disease: Curse or blessing
    • Ebrahimi-Fakhari D, Wahlster L, McLean PJ. Protein degradation pathways in Parkinson's disease: curse or blessing. Acta Neuropathol 2012; 124:153-172.
    • (2012) Acta Neuropathol , vol.124 , pp. 153-172
    • Ebrahimi-Fakhari, D.1    Wahlster, L.2    McLean, P.J.3
  • 65
    • 0037039358 scopus 로고    scopus 로고
    • A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus
    • Tang SJ, Reis G, Kang H, et al. 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
  • 66
    • 79952763934 scopus 로고    scopus 로고
    • Selective pharmacogenetic inhibition of mammalian target of Rapamycin complex i (mTORC1) blocks long-term synaptic plasticity and memory storage
    • Stoica L, Zhu PJ, Huang W, et al. Selective pharmacogenetic inhibition of mammalian target of Rapamycin complex I (mTORC1) blocks long-term synaptic plasticity and memory storage. Proc Natl Acad Sci USA 2011; 108:3791-3796.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 3791-3796
    • Stoica, L.1    Zhu, P.J.2    Huang, W.3
  • 67
    • 35348950503 scopus 로고    scopus 로고
    • Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex
    • Zeng LH, Ouyang Y, Gazit V, et al. Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiol Dis 2007; 28:184-196.
    • (2007) Neurobiol Dis , vol.28 , pp. 184-196
    • Zeng, L.H.1    Ouyang, Y.2    Gazit, V.3
  • 68
    • 79959289977 scopus 로고    scopus 로고
    • Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function
    • Bateup HS, Takasaki KT, Saulnier JL, et al. 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
  • 69
    • 84877344739 scopus 로고    scopus 로고
    • Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis
    • Bateup HS, Johnson CA, Denefrio CL, et al. Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis. Neuron 2013; 78:510-522.
    • (2013) Neuron , vol.78 , pp. 510-522
    • Bateup, H.S.1    Johnson, C.A.2    Denefrio, C.L.3
  • 70
    • 84884511014 scopus 로고    scopus 로고
    • International Tuberous Sclerosis Complex Consensus G: Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
    • Krueger DA, Northrup H. International Tuberous Sclerosis Complex Consensus G: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013; 49:255-265.
    • (2013) Pediatr Neurol , vol.49 , pp. 255-265
    • Krueger, D.A.1    Northrup, H.2
  • 71
    • 33644865491 scopus 로고    scopus 로고
    • Angelman syndrome 2005: Updated consensus for diagnostic criteria
    • Williams CA, Beaudet AL, Clayton-Smith J, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A 2006; 140:413-418.
    • (2006) Am J Med Genet A , vol.140 , pp. 413-418
    • Williams, C.A.1    Beaudet, A.L.2    Clayton-Smith, J.3
  • 72
    • 34447319904 scopus 로고    scopus 로고
    • Evaluation of autism traits in Angelman syndrome: A resource to unfold autism genes
    • Bonati MT, Russo S, Finelli P, et al. Evaluation of autism traits in Angelman syndrome: A resource to unfold autism genes. Neurogenetics 2007; 8:169-178.
    • (2007) Neurogenetics , vol.8 , pp. 169-178
    • Bonati, M.T.1    Russo, S.2    Finelli, P.3
  • 73
    • 84911442598 scopus 로고    scopus 로고
    • Mutation update for UBE3A variants in Angelman syndrome
    • Sadikovic B, Fernandes P, Zhang VW, et al. Mutation update for UBE3A variants in Angelman syndrome. Hum Mutat 2014; 35:1407-1417.
    • (2014) Hum Mutat , vol.35 , pp. 1407-1417
    • Sadikovic, B.1    Fernandes, P.2    Zhang, V.W.3
  • 74
    • 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 YH, Armstrong D, Albrecht U, et al. 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
  • 75
    • 67349178189 scopus 로고    scopus 로고
    • Ube3a is required for experiencedependent maturation of the neocortex
    • Yashiro K, Riday TT, Condon KH, et al. Ube3a is required for experiencedependent maturation of the neocortex. Nat Neurosci 2009; 12:777-783.
    • (2009) Nat Neurosci , vol.12 , pp. 777-783
    • Yashiro, K.1    Riday, T.T.2    Condon, K.H.3
  • 76
    • 77950386683 scopus 로고    scopus 로고
    • Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a
    • Sato M, Stryker MP. 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
  • 77
    • 84861950914 scopus 로고    scopus 로고
    • Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects
    • Wallace ML, Burette AC, Weinberg RJ, Philpot BD. 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
  • 78
    • 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, et al. 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
  • 79
    • 77649083119 scopus 로고    scopus 로고
    • The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc
    • Greer PL, Hanayama R, Bloodgood BL, et al. The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 2010; 140:704-716.
    • (2010) Cell , vol.140 , pp. 704-716
    • Greer, P.L.1    Hanayama, R.2    Bloodgood, B.L.3
  • 80
    • 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
  • 81
    • 84874747160 scopus 로고    scopus 로고
    • Impairment of TrkB-PSD-95 signaling in Angelman syndrome
    • Cao C, Rioult-Pedotti MS, Migani P, et al. Impairment of TrkB-PSD-95 signaling in Angelman syndrome. PLoS Biol 2013; 11:e1001478.
    • (2013) PLoS Biol , vol.11 , pp. e1001478
    • Cao, C.1    Rioult-Pedotti, M.S.2    Migani, P.3
  • 82
    • 84897853518 scopus 로고    scopus 로고
    • Changes in mGlu5 receptordependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling Angelman syndrome
    • Pignatelli M, Piccinin S, Molinaro G, et al. Changes in mGlu5 receptordependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling Angelman syndrome. J Neurosci 2014; 34:4558-4566.
    • (2014) J Neurosci , vol.34 , pp. 4558-4566
    • Pignatelli, M.1    Piccinin, S.2    Molinaro, G.3
  • 83
    • 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 SV, Antalffy BA, Bhattacharjee MB, Beaudet AL. 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
  • 84
    • 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, et al. 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
  • 85
    • 82555169392 scopus 로고    scopus 로고
    • Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome
    • Kaphzan H, Buffington SA, Jung JI, et al. Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome. J Neurosci 2011; 31:17637-17648.
    • (2011) J Neurosci , vol.31 , pp. 17637-17648
    • Kaphzan, H.1    Buffington, S.A.2    Jung, J.I.3
  • 86
    • 84881615694 scopus 로고    scopus 로고
    • Genetic reduction of the alpha1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome
    • Kaphzan H, Buffington SA, Ramaraj AB, et al. Genetic reduction of the alpha1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome. Cell Rep 2013; 4:405-412.
    • (2013) Cell Rep , vol.4 , pp. 405-412
    • Kaphzan, H.1    Buffington, S.A.2    Ramaraj, A.B.3
  • 88
    • 84862698733 scopus 로고    scopus 로고
    • Functional consequences of mutations in postsynaptic scaffolding proteins and relevance to psychiatric disorders
    • Ting JT, Peca J, Feng G. Functional consequences of mutations in postsynaptic scaffolding proteins and relevance to psychiatric disorders. Annu Rev Neurosci 2012; 35:49-71.
    • (2012) Annu Rev Neurosci , vol.35 , pp. 49-71
    • Ting, J.T.1    Peca, J.2    Feng, G.3
  • 89
    • 84904090307 scopus 로고    scopus 로고
    • Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome
    • Sarasua SM, Boccuto L, Sharp JL, et al. Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Hum Genet 2014; 133:847-859.
    • (2014) Hum Genet , vol.133 , pp. 847-859
    • Sarasua, S.M.1    Boccuto, L.2    Sharp, J.L.3
  • 90
    • 84874118636 scopus 로고    scopus 로고
    • Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    • Boccuto L, Lauri M, Sarasua SM, et al. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet 2013; 21:310-316.
    • (2013) Eur J Hum Genet , vol.21 , pp. 310-316
    • Boccuto, L.1    Lauri, M.2    Sarasua, S.M.3
  • 91
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    • Durand CM, Betancur C, Boeckers TM, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007; 39:25-27.
    • (2007) Nat Genet , vol.39 , pp. 25-27
    • Durand, C.M.1    Betancur, C.2    Boeckers, T.M.3
  • 92
    • 36749040875 scopus 로고    scopus 로고
    • Contribution of SHANK3 mutations to autism spectrum disorder
    • Moessner R, Marshall CR, Sutcliffe JS, et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007; 81:1289-1297.
    • (2007) Am J Hum Genet , vol.81 , pp. 1289-1297
    • Moessner, R.1    Marshall, C.R.2    Sutcliffe, J.S.3
  • 93
    • 84907572367 scopus 로고    scopus 로고
    • Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A gradient of severity in cognitive impairments
    • Leblond CS, Nava C, Polge A, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A gradient of severity in cognitive impairments. PLoS Genet 2014; 10:e1004580.
    • (2014) PLoS Genet , vol.10 , pp. e1004580
    • Leblond, C.S.1    Nava, C.2    Polge, A.3
  • 94
    • 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; 113:1851-1856.
    • (2000) J Cell Sci , vol.113 , pp. 1851-1856
    • Sheng, M.1    Kim, E.2
  • 95
    • 0035955643 scopus 로고    scopus 로고
    • Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin
    • Bockers TM, Mameza MG, Kreutz MR, et al. Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin. J Biol Chem 2001; 276:40104-40112.
    • (2001) J Biol Chem , vol.276 , pp. 40104-40112
    • Bockers, T.M.1    Mameza, M.G.2    Kreutz, M.R.3
  • 96
    • 18244374184 scopus 로고    scopus 로고
    • Key role of the postsynaptic density scaffold proteins Shank and Homer in the functional architecture of Ca2 homeostasis at dendritic spines in hippocampal neurons
    • Sala C, Roussignol G, Meldolesi J, Fagni L. Key role of the postsynaptic density scaffold proteins Shank and Homer in the functional architecture of Ca2 homeostasis at dendritic spines in hippocampal neurons. J Neurosci 2005; 25:4587-4592.
    • (2005) J Neurosci , vol.25 , pp. 4587-4592
    • Sala, C.1    Roussignol, G.2    Meldolesi, J.3    Fagni, L.4
  • 97
    • 80053423590 scopus 로고    scopus 로고
    • Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses
    • Verpelli C, Dvoretskova E, Vicidomini C, et al. Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses. J Biol Chem 2011; 286:34839-34850.
    • (2011) J Biol Chem , vol.286 , pp. 34839-34850
    • Verpelli, C.1    Dvoretskova, E.2    Vicidomini, C.3
  • 98
    • 84876070991 scopus 로고    scopus 로고
    • Modeling autism by SHANK gene mutations in mice
    • Jiang YH, Ehlers MD. 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
  • 99
    • 80054889797 scopus 로고    scopus 로고
    • Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
    • Bozdagi O, Sakurai T, Papapetrou D, et al. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism 2010; 1:15.
    • (2010) Mol Autism , vol.1 , pp. 15
    • Bozdagi, O.1    Sakurai, T.2    Papapetrou, D.3
  • 100
    • 79955536349 scopus 로고    scopus 로고
    • Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
    • Peca J, Feliciano C, Ting JT, et al. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature 2011; 472:437-442.
    • (2011) Nature , vol.472 , pp. 437-442
    • Peca, J.1    Feliciano, C.2    Ting, J.T.3
  • 101
    • 79960111638 scopus 로고    scopus 로고
    • Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
    • Wang X, McCoy PA, Rodriguiz RM, et al. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet 2011; 20:3093-3108.
    • (2011) Hum Mol Genet , vol.20 , pp. 3093-3108
    • Wang, X.1    McCoy, P.A.2    Rodriguiz, R.M.3
  • 102
    • 84887841772 scopus 로고    scopus 로고
    • Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission
    • Kouser M, Speed HE, Dewey CM, et al. Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission. J Neurosci 2013; 33:18448-18468.
    • (2013) J Neurosci , vol.33 , pp. 18448-18468
    • Kouser, M.1    Speed, H.E.2    Dewey, C.M.3
  • 103
    • 84860678815 scopus 로고    scopus 로고
    • Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice
    • Yang M, Bozdagi O, Scattoni ML, et al. Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. J Neurosci 2012; 32:6525-6541.
    • (2012) J Neurosci , vol.32 , pp. 6525-6541
    • Yang, M.1    Bozdagi, O.2    Scattoni, M.L.3
  • 104
    • 84878498256 scopus 로고    scopus 로고
    • Shank3-Rich2 interaction regulates AMPA receptor recycling and synaptic long-term potentiation
    • Raynaud F, Janossy A, Dahl J, et al. Shank3-Rich2 interaction regulates AMPA receptor recycling and synaptic long-term potentiation. J Neurosci 2013; 33:9699-9715.
    • (2013) J Neurosci , vol.33 , pp. 9699-9715
    • Raynaud, F.1    Janossy, A.2    Dahl, J.3
  • 105
    • 84884955739 scopus 로고    scopus 로고
    • Shank3 deficiency induces NMDA receptor hypofunction via an actin-dependent mechanism
    • Duffney LJ, Wei J, Cheng J, et al. 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
  • 106
    • 84892702866 scopus 로고    scopus 로고
    • Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders
    • Grabrucker S, Jannetti L, Eckert M, et al. Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders. Brain 2014; 137:137-152.
    • (2014) Brain , vol.137 , pp. 137-152
    • Grabrucker, S.1    Jannetti, L.2    Eckert, M.3
  • 107
    • 84887627330 scopus 로고    scopus 로고
    • SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
    • Shcheglovitov A, Shcheglovitova O, Yazawa M, et al. SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature 2013; 503:267-271.
    • (2013) Nature , vol.503 , pp. 267-271
    • Shcheglovitov, A.1    Shcheglovitova, O.2    Yazawa, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.