메뉴 건너뛰기




Volumn 17, Issue 3, 2015, Pages 316-328

Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1

Author keywords

autism; human neurons; iN cells; neurexin; schizophrenia; synapse; synaptic cell adhesion

Indexed keywords

CASK PROTEIN; CRE RECOMBINASE; NEUREXIN; NEUREXIN 1; PROTEIN; RECOMBINASE; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS; CASK KINASES; GUANYLATE KINASE; NERVE CELL ADHESION MOLECULE; NERVE PROTEIN; NRXN1 PROTEIN, HUMAN;

EID: 84940978728     PISSN: 19345909     EISSN: 18759777     Source Type: Journal    
DOI: 10.1016/j.stem.2015.07.017     Document Type: Article
Times cited : (166)

References (50)
  • 1
    • 84868121906 scopus 로고    scopus 로고
    • Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
    • G.R. Anderson, T. Galfin, W. Xu, J. Aoto, R.C. Malenka, and T.C. Südhof Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development Proc. Natl. Acad. Sci. USA 109 2012 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
  • 7
    • 84927517557 scopus 로고    scopus 로고
    • Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control
    • R.A. Clarke, and V. Eapen Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control Front. Hum. Neurosci. 8 2014 52
    • (2014) Front. Hum. Neurosci. , vol.8 , pp. 52
    • Clarke, R.A.1    Eapen, V.2
  • 10
    • 70449686185 scopus 로고    scopus 로고
    • Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
    • M.R. Etherton, C.A. Blaiss, C.M. Powell, and T.C. Südhof Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments Proc. Natl. Acad. Sci. USA 106 2009 17998 18003
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 17998-18003
    • Etherton, M.R.1    Blaiss, C.A.2    Powell, C.M.3    Südhof, T.C.4
  • 13
    • 84887469934 scopus 로고    scopus 로고
    • The genomics of schizophrenia: update and implications
    • P. Giusti-Rodríguez, and P.F. Sullivan The genomics of schizophrenia: update and implications J. Clin. Invest. 123 2013 4557 4563
    • (2013) J. Clin. Invest. , vol.123 , pp. 4557-4563
    • Giusti-Rodríguez, P.1    Sullivan, P.F.2
  • 15
    • 79956212343 scopus 로고    scopus 로고
    • Constructing and deconstructing stem cell models of neurological disease
    • S.S. Han, L.A. Williams, and K.C. Eggan Constructing and deconstructing stem cell models of neurological disease Neuron 70 2011 626 644
    • (2011) Neuron , vol.70 , pp. 626-644
    • Han, S.S.1    Williams, L.A.2    Eggan, K.C.3
  • 16
    • 78149487692 scopus 로고    scopus 로고
    • Pluripotency and cellular reprogramming: facts, hypotheses, unresolved issues
    • J.H. Hanna, K. Saha, and R. Jaenisch Pluripotency and cellular reprogramming: facts, hypotheses, unresolved issues Cell 143 2010 508 525
    • (2010) Cell , vol.143 , pp. 508-525
    • Hanna, J.H.1    Saha, K.2    Jaenisch, R.3
  • 17
    • 0029914941 scopus 로고    scopus 로고
    • CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins
    • Y. Hata, S. Butz, and T.C. Südhof CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins J. Neurosci. 16 1996 2488 2494
    • (1996) J. Neurosci. , vol.16 , pp. 2488-2494
    • Hata, Y.1    Butz, S.2    Südhof, T.C.3
  • 19
    • 84899463833 scopus 로고    scopus 로고
    • Modeling human neurological disorders with induced pluripotent stem cells
    • Y. Imaizumi, and H. Okano Modeling human neurological disorders with induced pluripotent stem cells J. Neurochem. 129 2014 388 399
    • (2014) J. Neurochem. , vol.129 , pp. 388-399
    • Imaizumi, Y.1    Okano, H.2
  • 20
    • 62549127853 scopus 로고    scopus 로고
    • A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration
    • P. Koch, T. Opitz, J.A. Steinbeck, J. Ladewig, and O. Brüstle A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration Proc. Natl. Acad. Sci. USA 106 2009 3225 3230
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 3225-3230
    • Koch, P.1    Opitz, T.2    Steinbeck, J.A.3    Ladewig, J.4    Brüstle, O.5
  • 21
    • 17444434208 scopus 로고    scopus 로고
    • Facile methods for generating human somatic cell gene knockouts using recombinant adeno-associated viruses
    • M. Kohli, C. Rago, C. Lengauer, K.W. Kinzler, and B. Vogelstein Facile methods for generating human somatic cell gene knockouts using recombinant adeno-associated viruses Nucleic Acids Res. 32 2004 e3
    • (2004) Nucleic Acids Res. , vol.32 , pp. e3
    • Kohli, M.1    Rago, C.2    Lengauer, C.3    Kinzler, K.W.4    Vogelstein, B.5
  • 23
    • 27844499290 scopus 로고    scopus 로고
    • Autonomous function of synaptotagmin 1 in triggering synchronous release independent of asynchronous release
    • A. Maximov, and T.C. Südhof Autonomous function of synaptotagmin 1 in triggering synchronous release independent of asynchronous release Neuron 48 2005 547 554
    • (2005) Neuron , vol.48 , pp. 547-554
    • Maximov, A.1    Südhof, T.C.2
  • 25
    • 84879883914 scopus 로고    scopus 로고
    • Recent developments in the genetics of autism spectrum disorders
    • J.D. Murdoch, and M.W. State Recent developments in the genetics of autism spectrum disorders Curr. Opin. Genet. Dev. 23 2013 310 315
    • (2013) Curr. Opin. Genet. Dev. , vol.23 , pp. 310-315
    • Murdoch, J.D.1    State, M.W.2
  • 29
    • 77958592778 scopus 로고    scopus 로고
    • Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons
    • Z.P. Pang, W. Xu, P. Cao, and T.C. Südhof Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons J. Biol. Chem. 285 2010 33930 33939
    • (2010) J. Biol. Chem. , vol.285 , pp. 33930-33939
    • Pang, Z.P.1    Xu, W.2    Cao, P.3    Südhof, T.C.4
  • 35
    • 0030175394 scopus 로고    scopus 로고
    • Definition of the readily releasable pool of vesicles at hippocampal synapses
    • C. Rosenmund, and C.F. Stevens Definition of the readily releasable pool of vesicles at hippocampal synapses Neuron 16 1996 1197 1207
    • (1996) Neuron , vol.16 , pp. 1197-1207
    • Rosenmund, C.1    Stevens, C.F.2
  • 39
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • T.C. Südhof Neuroligins and neurexins link synaptic function to cognitive disease Nature 455 2008 903 911
    • (2008) Nature , vol.455 , pp. 903-911
    • Südhof, T.C.1
  • 40
    • 0036270811 scopus 로고    scopus 로고
    • Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing
    • K. Tabuchi, and T.C. Südhof Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing Genomics 79 2002 849 859
    • (2002) Genomics , vol.79 , pp. 849-859
    • Tabuchi, K.1    Südhof, T.C.2
  • 42
    • 84897528076 scopus 로고    scopus 로고
    • Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing
    • B. Treutlein, O. Gokce, S.R. Quake, and T.C. Südhof Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing Proc. Natl. Acad. Sci. USA 111 2014 E1291 E1299
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. E1291-E1299
    • Treutlein, B.1    Gokce, O.2    Quake, S.R.3    Südhof, T.C.4
  • 43
    • 0028969264 scopus 로고
    • Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons
    • B. Ullrich, Y.A. Ushkaryov, and T.C. Südhof Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons Neuron 14 1995 497 507
    • (1995) Neuron , vol.14 , pp. 497-507
    • Ullrich, B.1    Ushkaryov, Y.A.2    Südhof, T.C.3
  • 44
    • 0027292233 scopus 로고
    • Neurexin III α: extensive alternative splicing generates membrane-bound and soluble forms
    • Y.A. Ushkaryov, and T.C. Südhof Neurexin III α: extensive alternative splicing generates membrane-bound and soluble forms Proc. Natl. Acad. Sci. USA 90 1993 6410 6414
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 6410-6414
    • Ushkaryov, Y.A.1    Südhof, T.C.2
  • 45
    • 0026769035 scopus 로고
    • Neurexins: synaptic cell surface proteins related to the α-latrotoxin receptor and laminin
    • Y.A. Ushkaryov, A.G. Petrenko, M. Geppert, and T.C. Südhof Neurexins: synaptic cell surface proteins related to the α-latrotoxin receptor and laminin Science 257 1992 50 56
    • (1992) Science , vol.257 , pp. 50-56
    • Ushkaryov, Y.A.1    Petrenko, A.G.2    Geppert, M.3    Südhof, T.C.4
  • 46
    • 34648874629 scopus 로고    scopus 로고
    • Integrative genomic and functional analyses reveal neuronal subtype differentiation bias in human embryonic stem cell lines
    • H. Wu, J. Xu, Z.P. Pang, W. Ge, K.J. Kim, B. Blanchi, C. Chen, T.C. Südhof, and Y.E. Sun Integrative genomic and functional analyses reveal neuronal subtype differentiation bias in human embryonic stem cell lines Proc. Natl. Acad. Sci. USA 104 2007 13821 13826
    • (2007) Proc. Natl. Acad. Sci. USA , vol.104 , pp. 13821-13826
    • Wu, H.1    Xu, J.2    Pang, Z.P.3    Ge, W.4    Kim, K.J.5    Blanchi, B.6    Chen, C.7    Südhof, T.C.8    Sun, Y.E.9
  • 47
    • 84863393541 scopus 로고    scopus 로고
    • Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission
    • W. Xu, W. Morishita, P.S. Buckmaster, Z.P. Pang, R.C. Malenka, and T.C. Südhof Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission Neuron 73 2012 990 1001
    • (2012) Neuron , vol.73 , pp. 990-1001
    • Xu, W.1    Morishita, W.2    Buckmaster, P.S.3    Pang, Z.P.4    Malenka, R.C.5    Südhof, T.C.6
  • 48
    • 0035200623 scopus 로고    scopus 로고
    • In vitro differentiation of transplantable neural precursors from human embryonic stem cells
    • S.C. Zhang, M. Wernig, I.D. Duncan, O. Brüstle, and J.A. Thomson In vitro differentiation of transplantable neural precursors from human embryonic stem cells Nat. Biotechnol. 19 2001 1129 1133
    • (2001) Nat. Biotechnol. , vol.19 , pp. 1129-1133
    • Zhang, S.C.1    Wernig, M.2    Duncan, I.D.3    Brüstle, O.4    Thomson, J.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.