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Volumn 21, Issue 2, 2016, Pages 169-177

Pathogenic mechanism of an autism-associated neuroligin mutation involves altered AMPA-receptor trafficking

Author keywords

[No Author keywords available]

Indexed keywords

AMPA RECEPTOR; ARGININE; NEUROLIGIN; NEUROLIGIN 3; NEUROLIGIN 4; UNCLASSIFIED DRUG; ALPHA AMINO 3 HYDROXY 5 METHYL 4 ISOXAZOLEPROPIONIC ACID; MEMBRANE PROTEIN; NERVE CELL ADHESION MOLECULE; NERVE PROTEIN; NLGN4X PROTEIN, HUMAN;

EID: 84955215590     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2015.20     Document Type: Article
Times cited : (48)

References (30)
  • 1
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • Sudhof TC. Neuroligins and neurexins link synaptic function to cognitive disease. Nature 2008; 455: 903-911.
    • (2008) Nature , vol.455 , pp. 903-911
    • Sudhof, T.C.1
  • 3
    • 0030026657 scopus 로고    scopus 로고
    • Structures, alternative splicing, and neurexin binding of multiple neuroligins
    • Ichtchenko K, Nguyen T, Sudhof TC. 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
  • 5
    • 0033514448 scopus 로고    scopus 로고
    • Neuroligin 1 is a postsynaptic celladhesion molecule of excitatory synapses
    • Song JY, Ichtchenko K, Sudhof TC, Brose N. Neuroligin 1 is a postsynaptic celladhesion molecule of excitatory synapses. Proc Natl Acad Sci USA 1999; 96: 1100-1105.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 1100-1105
    • Song, J.Y.1    Ichtchenko, K.2    Sudhof, T.C.3    Brose, N.4
  • 6
    • 7244232730 scopus 로고    scopus 로고
    • Neuroligin 2 is exclusively localized to inhibitory synapses
    • Varoqueaux F, Jamain S, Brose N. Neuroligin 2 is exclusively localized to inhibitory synapses. Eur J Cell Biol 2004; 83: 449-456.
    • (2004) Eur J Cell Biol , vol.83 , pp. 449-456
    • Varoqueaux, F.1    Jamain, S.2    Brose, N.3
  • 8
    • 84883543126 scopus 로고    scopus 로고
    • Neuroligin 2 is expressed in synapses established by cholinergic cells in the mouse brain
    • Takacs VT, Freund TF, Nyiri G. Neuroligin 2 is expressed in synapses established by cholinergic cells in the mouse brain. PLoS One 2013; 8: e72450.
    • (2013) PLoS One , vol.8 , pp. e72450
    • Takacs, V.T.1    Freund, T.F.2    Nyiri, G.3
  • 9
    • 34848892693 scopus 로고    scopus 로고
    • Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses
    • Budreck EC, Scheiffele P. Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses. Eur J Neurosci 2007; 26: 1738-1748.
    • (2007) Eur J Neurosci , vol.26 , pp. 1738-1748
    • Budreck, E.C.1    Scheiffele, P.2
  • 10
    • 69749113369 scopus 로고    scopus 로고
    • A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export
    • Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher TA, et al. A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J Neurosci 2009; 29: 10843-10854.
    • (2009) J Neurosci , vol.29 , pp. 10843-10854
    • Zhang, C.1    Milunsky, J.M.2    Newton, S.3    Ko, J.4    Zhao, G.5    Maher, T.A.6
  • 11
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003; 34: 27-29.
    • (2003) Nat Genet , vol.34 , pp. 27-29
    • Jamain, S.1    Quach, H.2    Betancur, C.3    Råstam, M.4    Colineaux, C.5    Gillberg, I.C.6
  • 12
    • 12144291350 scopus 로고    scopus 로고
    • X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
    • Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004; 74: 552-557.
    • (2004) Am J Hum Genet , vol.74 , pp. 552-557
    • Laumonnier, F.1    Bonnet-Brilhault, F.2    Gomot, M.3    Blanc, R.4    David, A.5    Moizard, M.P.6
  • 13
    • 42649125261 scopus 로고    scopus 로고
    • Familial deletion within NLGN4 associated with autism and Tourette syndrome
    • Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet 2008; 16: 614-618.
    • (2008) Eur J Hum Genet , vol.16 , pp. 614-618
    • Lawson-Yuen, A.1    Saldivar, J.S.2    Sommer, S.3    Picker, J.4
  • 15
    • 84902369052 scopus 로고    scopus 로고
    • Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients
    • Xu X, Xiong Z, Zhang L, Liu Y, Lu L, Peng Y, et al. Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients. Mol Biol Rep 2014; 41: 4133-4140.
    • (2014) Mol Biol Rep , vol.41 , pp. 4133-4140
    • Xu, X.1    Xiong, Z.2    Zhang, L.3    Liu, Y.4    Lu, L.5    Peng, Y.6
  • 16
    • 20144389549 scopus 로고    scopus 로고
    • Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
    • Yan J, Oliveira G, Coutinho A, Yang C, Feng J, Katz C, et al. Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry 2005; 10: 329-332.
    • (2005) Mol Psychiatry , vol.10 , pp. 329-332
    • Yan, J.1    Oliveira, G.2    Coutinho, A.3    Yang, C.4    Feng, J.5    Katz, C.6
  • 17
    • 79960627779 scopus 로고    scopus 로고
    • An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptormediated synaptic transmission in hippocampus
    • Etherton MR, Tabuchi K, Sharma M, Ko J, Sudhof TC. An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptormediated synaptic transmission in hippocampus. EMBO J 2011; 30: 2908-2919.
    • (2011) EMBO J , vol.30 , pp. 2908-2919
    • Etherton, M.R.1    Tabuchi, K.2    Sharma, M.3    Ko, J.4    Sudhof, T.C.5
  • 18
    • 79953840886 scopus 로고    scopus 로고
    • Activity-dependent IGF-1 exocytosis is controlled by the Ca(2+)-sensor synaptotagmin-10
    • Cao P, Maximov A, Sudhof TC. Activity-dependent IGF-1 exocytosis is controlled by the Ca(2+)-sensor synaptotagmin-10. Cell 2011; 145: 300-311.
    • (2011) Cell , vol.145 , pp. 300-311
    • Cao, P.1    Maximov, A.2    Sudhof, T.C.3
  • 19
    • 33847352925 scopus 로고    scopus 로고
    • Monitoring synaptic transmission in primary neuronal cultures using local extracellular stimulation
    • Maximov A, Pang ZP, Tervo DG, Sudhof TC. Monitoring synaptic transmission in primary neuronal cultures using local extracellular stimulation. J Neurosci Methods 2007; 161: 75-87.
    • (2007) J Neurosci Methods , vol.161 , pp. 75-87
    • Maximov, A.1    Pang, Z.P.2    Tervo, D.G.3    Sudhof, T.C.4
  • 20
    • 33845646925 scopus 로고    scopus 로고
    • Genetic analysis of Mint/X11 proteins: Essential presynaptic functions of a neuronal adaptor protein family
    • Ho A, Morishita W, Atasoy D, Liu X, Tabuchi K, Hammer RE, et al. Genetic analysis of Mint/X11 proteins: essential presynaptic functions of a neuronal adaptor protein family. J Neurosci 2006; 26: 13089-13101.
    • (2006) J Neurosci , vol.26 , pp. 13089-13101
    • Ho, A.1    Morishita, W.2    Atasoy, D.3    Liu, X.4    Tabuchi, K.5    Hammer, R.E.6
  • 21
    • 70350187100 scopus 로고    scopus 로고
    • ELKS2alpha/CAST deletion selectively increases neurotransmitter release at inhibitory synapses
    • Kaeser PS, Deng L, Chávez AE, Liu X, Castillo PE, Südhof TC, et al. ELKS2alpha/CAST deletion selectively increases neurotransmitter release at inhibitory synapses. Neuron 2009; 64: 227-239.
    • (2009) Neuron , vol.64 , pp. 227-239
    • Kaeser, P.S.1    Deng, L.2    Chávez, A.E.3    Liu, X.4    Castillo, P.E.5    Südhof, T.C.6
  • 22
    • 84868121906 scopus 로고    scopus 로고
    • Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
    • Anderson GR, Galfin T, Xu W, Aoto J, Malenka RC, Südhof TC, et al. Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development. Proc Natl Acad Sci USA 2012; 109: 18120-18125.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 18120-18125
    • Anderson, G.R.1    Galfin, T.2    Xu, W.3    Aoto, J.4    Malenka, R.C.5    Südhof, T.C.6
  • 23
    • 84885333618 scopus 로고    scopus 로고
    • Neurons generated by direct conversion of fibroblasts reproduce synaptic phenotype caused by autism-associated neuroligin-3 mutation
    • Chanda S, Marro S, Wernig M, Sudhof TC. Neurons generated by direct conversion of fibroblasts reproduce synaptic phenotype caused by autism-associated neuroligin-mutation. Proc Natl Acad Sci USA 2013; 110: 16622-16627.
    • (2013) Proc Natl Acad Sci USA , vol.110 , pp. 16622-16627
    • Chanda, S.1    Marro, S.2    Wernig, M.3    Sudhof, T.C.4
  • 24
    • 84879970825 scopus 로고    scopus 로고
    • Presynaptic neurexin-3 alternative splicing trans-synaptically controls postsynaptic AMPA receptor trafficking
    • Aoto J, Martinelli DC, Malenka RC, Tabuchi K, Sudhof TC. Presynaptic neurexin-3 alternative splicing trans-synaptically controls postsynaptic AMPA receptor trafficking. Cell 2013; 154: 75-88.
    • (2013) Cell , vol.154 , pp. 75-88
    • Aoto, J.1    Martinelli, D.C.2    Malenka, R.C.3    Tabuchi, K.4    Sudhof, T.C.5
  • 25
    • 56349150863 scopus 로고    scopus 로고
    • The amino-terminal domain of glutamate receptor delta2 triggers presynaptic differentiation
    • Uemura T, Mishina M. The amino-terminal domain of glutamate receptor delta2 triggers presynaptic differentiation. Biochem Biophys Res Commun 2008; 377: 1315-1319.
    • (2008) Biochem Biophys Res Commun , vol.377 , pp. 1315-1319
    • Uemura, T.1    Mishina, M.2
  • 26
    • 77953725365 scopus 로고    scopus 로고
    • Trans-synaptic interaction of GluRdelta2 and neurexin through Cbln1 mediates synapse formation in the cerebellum
    • Uemura T, Lee SJ, Yasumura M, Takeuchi T, Yoshida T, Ra M, et al. Trans-synaptic interaction of GluRdelta2 and neurexin through Cbln1 mediates synapse formation in the cerebellum. Cell 2010; 141: 1068-1079.
    • (2010) Cell , vol.141 , pp. 1068-1079
    • Uemura, T.1    Lee, S.J.2    Yasumura, M.3    Takeuchi, T.4    Yoshida, T.5    Ra, M.6
  • 27
    • 35148858044 scopus 로고    scopus 로고
    • A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
    • Tabuchi K, Blundell J, Etherton MR, Hammer RE, Liu X, Powell CM, et al. 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
  • 28
    • 80051998693 scopus 로고    scopus 로고
    • Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
    • Etherton M, Földy C, Sharma M, Tabuchi K, Liu X, Shamloo M, et al. Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function. Proc Natl Acad Sci USA 2011; 108: 13764-13769.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 13764-13769
    • Etherton, M.1    Földy, C.2    Sharma, M.3    Tabuchi, K.4    Liu, X.5    Shamloo, M.6
  • 29
    • 84904004407 scopus 로고    scopus 로고
    • Autismassociated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors
    • Rothwell PE, Fuccillo MV, Maxeiner S, Hayton SJ, Gokce O, Lim BK, et al. Autismassociated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors. Cell 2014; 158: 198-212.
    • (2014) Cell , vol.158 , pp. 198-212
    • Rothwell, P.E.1    Fuccillo, M.V.2    Maxeiner, S.3    Hayton, S.J.4    Gokce, O.5    Lim, B.K.6


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