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Volumn 47, Issue 1, 2012, Pages 135-143

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation

Author keywords

Autism; Mental retardation; Mutation; Neurexin; Synapse

Indexed keywords

NEUREXIN; NEUREXIN 1 BETA; UNCLASSIFIED DRUG;

EID: 84861230108     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2012.03.031     Document Type: Article
Times cited : (33)

References (46)
  • 1
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: on the threshold of a new neurobiology
    • Abrahams B.S., Geschwind D.H. Advances in autism genetics: on the threshold of a new neurobiology. Nat. Rev. Genet. 2008, 9:341-355.
    • (2008) Nat. Rev. Genet. , vol.9 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 2
    • 0004235298 scopus 로고
    • American Psychiatric Association American Psychiatric Association, Washington DC
    • American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders 1994, American Psychiatric Association, Washington DC. 4th ed.
    • (1994) Diagnostic and Statistical Manual of Mental Disorders
  • 3
    • 33745818375 scopus 로고    scopus 로고
    • Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)
    • Baird G., et al. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 2006, 368:210-215.
    • (2006) Lancet , vol.368 , pp. 210-215
    • Baird, G.1
  • 4
    • 77952827032 scopus 로고    scopus 로고
    • Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
    • Berkel S., et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat. Genet. 2010, 42:489-491.
    • (2010) Nat. Genet. , vol.42 , pp. 489-491
    • Berkel, S.1
  • 5
    • 78951488794 scopus 로고    scopus 로고
    • Processing of the synaptic cell adhesion molecule neurexin-3beta by Alzheimer disease alpha- and gamma-secretases
    • Bot N., et al. Processing of the synaptic cell adhesion molecule neurexin-3beta by Alzheimer disease alpha- and gamma-secretases. J. Biol. Chem. 2011, 286:2762-2773.
    • (2011) J. Biol. Chem. , vol.286 , pp. 2762-2773
    • Bot, N.1
  • 6
    • 26944444692 scopus 로고    scopus 로고
    • A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins
    • Boucard A.A., et al. A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins. Neuron 2005, 48:229-236.
    • (2005) Neuron , vol.48 , pp. 229-236
    • Boucard, A.A.1
  • 7
    • 67650750977 scopus 로고    scopus 로고
    • A synaptic trek to autism
    • Bourgeron T. A synaptic trek to autism. Curr. Opin. Neurobiol. 2009, 19:231-234.
    • (2009) Curr. Opin. Neurobiol. , vol.19 , pp. 231-234
    • Bourgeron, T.1
  • 8
    • 67651233780 scopus 로고    scopus 로고
    • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
    • Bucan M., et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009, 5:e1000536.
    • (2009) PLoS Genet. , vol.5
    • Bucan, M.1
  • 9
    • 3543136466 scopus 로고    scopus 로고
    • Disorder-associated mutations lead to functional inactivation of neuroligins
    • Chih B., et al. Disorder-associated mutations lead to functional inactivation of neuroligins. Hum. Mol. Genet. 2004, 13:1471-1477.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1471-1477
    • Chih, B.1
  • 10
    • 33745994650 scopus 로고    scopus 로고
    • Alternative splicing controls selective trans-synaptic interactions of the neuroligin-neurexin complex
    • Chih B., et al. Alternative splicing controls selective trans-synaptic interactions of the neuroligin-neurexin complex. Neuron 2006, 51:171-178.
    • (2006) Neuron , vol.51 , pp. 171-178
    • Chih, B.1
  • 11
    • 77952691843 scopus 로고    scopus 로고
    • Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
    • Ching M.S., et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010, 153B:937-947.
    • (2010) Am. J. Med. Genet. B Neuropsychiatr. Genet. , vol.153 B , pp. 937-947
    • Ching, M.S.1
  • 12
    • 0037743572 scopus 로고    scopus 로고
    • Neurexin mediates the assembly of presynaptic terminals
    • Dean C., et al. Neurexin mediates the assembly of presynaptic terminals. Nat. Neurosci. 2003, 6:708-716.
    • (2003) Nat. Neurosci. , vol.6 , pp. 708-716
    • Dean, C.1
  • 13
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    • Durand C.M., 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
  • 14
    • 33750079257 scopus 로고    scopus 로고
    • High frequency of neurexin 1beta signal peptide structural variants in patients with autism
    • Feng J., et al. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci. Lett. 2006, 409:10-13.
    • (2006) Neurosci. Lett. , vol.409 , pp. 10-13
    • Feng, J.1
  • 15
    • 0141427915 scopus 로고    scopus 로고
    • Epidemiological surveys of autism and other pervasive developmental disorders: an update
    • Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J. Autism Dev. Disord. 2003, 33:365-382.
    • (2003) J. Autism Dev. Disord. , vol.33 , pp. 365-382
    • Fombonne, E.1
  • 16
    • 80054860297 scopus 로고    scopus 로고
    • Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
    • Gauthier J., et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum. Genet. 2011, 130:563-573.
    • (2011) Hum. Genet. , vol.130 , pp. 563-573
    • Gauthier, J.1
  • 17
    • 69949177829 scopus 로고    scopus 로고
    • Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
    • Guilmatre A., et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch. Gen. Psychiatry 2009, 66:947-956.
    • (2009) Arch. Gen. Psychiatry , vol.66 , pp. 947-956
    • Guilmatre, A.1
  • 18
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain S., 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
  • 19
    • 38749084216 scopus 로고    scopus 로고
    • Disruption of neurexin 1 associated with autism spectrum disorder
    • Kim H.G., et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet. 2008, 82:199-207.
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 199-207
    • Kim, H.G.1
  • 20
    • 38349106160 scopus 로고    scopus 로고
    • Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
    • Kirov G., et al. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum. Mol. Genet. 2008, 17:458-465.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 458-465
    • Kirov, G.1
  • 21
    • 0022552131 scopus 로고
    • Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
    • Kozak M. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 1986, 44:283-292.
    • (1986) Cell , vol.44 , pp. 283-292
    • Kozak, M.1
  • 22
    • 0023665902 scopus 로고
    • An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs
    • Kozak M. An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 1987, 15:8125-8148.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 8125-8148
    • Kozak, M.1
  • 23
    • 0036021444 scopus 로고    scopus 로고
    • Emerging links between initiation of translation and human diseases
    • Kozak M. Emerging links between initiation of translation and human diseases. Mamm. Genome 2002, 13:401-410.
    • (2002) Mamm. Genome , vol.13 , pp. 401-410
    • Kozak, M.1
  • 24
    • 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., 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
  • 25
    • 77953867567 scopus 로고    scopus 로고
    • Genomic analysis of mental illness: a changing landscape
    • McClellan J., King M.C. Genomic analysis of mental illness: a changing landscape. JAMA 2010, 303:2523-2524.
    • (2010) JAMA , vol.303 , pp. 2523-2524
    • McClellan, J.1    King, M.C.2
  • 26
    • 0031983653 scopus 로고    scopus 로고
    • Neurexins: three genes and 1001 products
    • Missler M., Sudhof T.C. Neurexins: three genes and 1001 products. Trends Genet. 1998, 14:20-26.
    • (1998) Trends Genet. , vol.14 , pp. 20-26
    • Missler, M.1    Sudhof, T.C.2
  • 27
    • 79952069900 scopus 로고    scopus 로고
    • The genetics of neurodevelopmental disease
    • Mitchell K.J. The genetics of neurodevelopmental disease. Curr. Opin. Neurobiol. 2011, 21:197-203.
    • (2011) Curr. Opin. Neurobiol. , vol.21 , pp. 197-203
    • Mitchell, K.J.1
  • 28
    • 36749040875 scopus 로고    scopus 로고
    • Contribution of SHANK3 mutations to autism spectrum disorder
    • Moessner R., 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
  • 29
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • O'Roak B.J., et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat. Genet. 2011, 43:585-589.
    • (2011) Nat. Genet. , vol.43 , pp. 585-589
    • O'Roak, B.J.1
  • 30
    • 33746314832 scopus 로고    scopus 로고
    • Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
    • Persico A.M., Bourgeron T. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci. 2006, 29:349-358.
    • (2006) Trends Neurosci. , vol.29 , pp. 349-358
    • Persico, A.M.1    Bourgeron, T.2
  • 31
    • 0034736511 scopus 로고    scopus 로고
    • Analysis of oligonucleotide AUG start codon context in eukariotic mRNAs
    • Pesole G., et al. Analysis of oligonucleotide AUG start codon context in eukariotic mRNAs. Gene 2000, 261:85-91.
    • (2000) Gene , vol.261 , pp. 85-91
    • Pesole, G.1
  • 32
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D., et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466:368-372.
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1
  • 33
    • 60549106509 scopus 로고    scopus 로고
    • Disruption of the neurexin 1 gene is associated with schizophrenia
    • Rujescu D., et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum. Mol. Genet. 2009, 18:988-996.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 988-996
    • Rujescu, D.1
  • 34
    • 79955761820 scopus 로고    scopus 로고
    • Presenilin/gamma-secretase regulates neurexin processing at synapses
    • Saura C.A., et al. Presenilin/gamma-secretase regulates neurexin processing at synapses. PLoS One 2011, 6:e19430.
    • (2011) PLoS One , vol.6
    • Saura, C.A.1
  • 35
    • 77957912870 scopus 로고    scopus 로고
    • The genetics of child psychiatric disorders: focus on autism and Tourette syndrome
    • State M.W. The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron 2010, 68:254-269.
    • (2010) Neuron , vol.68 , pp. 254-269
    • State, M.W.1
  • 36
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • Sudhof T.C. 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
  • 37
    • 77952503974 scopus 로고    scopus 로고
    • Tourette syndrome is associated with recurrent exonic copy number variants
    • Sundaram S.K., et al. Tourette syndrome is associated with recurrent exonic copy number variants. Neurology 2010, 74:1583-1590.
    • (2010) Neurology , vol.74 , pp. 1583-1590
    • Sundaram, S.K.1
  • 38
    • 0343069798 scopus 로고    scopus 로고
    • Statistical analysis of the 5' untranslated region of human mRNA using "Oligo-Capped" cDNA libraries
    • Suzuki Y., et al. Statistical analysis of the 5' untranslated region of human mRNA using "Oligo-Capped" cDNA libraries. Genomics 2000, 64:286-297.
    • (2000) Genomics , vol.64 , pp. 286-297
    • Suzuki, Y.1
  • 39
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari P., et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet. 2007, 39:319-328.
    • (2007) Nat. Genet. , vol.39 , pp. 319-328
    • Szatmari, P.1
  • 40
    • 77955093058 scopus 로고    scopus 로고
    • Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
    • Toro R., et al. Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet. 2010, 26:363-372.
    • (2010) Trends Genet. , vol.26 , pp. 363-372
    • Toro, R.1
  • 41
    • 0034806042 scopus 로고    scopus 로고
    • The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene
    • Tucker P., et al. The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene. Genesis 2001, 31:43-53.
    • (2001) Genesis , vol.31 , pp. 43-53
    • Tucker, P.1
  • 42
    • 0028241554 scopus 로고
    • Conserved domain structure of beta-neurexins. Unusual cleaved signal sequences in receptor-like neuronal cell-surface proteins
    • Ushkaryov Y.A., et al. Conserved domain structure of beta-neurexins. Unusual cleaved signal sequences in receptor-like neuronal cell-surface proteins. J. Biol. Chem. 1994, 269:11987-11992.
    • (1994) J. Biol. Chem. , vol.269 , pp. 11987-11992
    • Ushkaryov, Y.A.1
  • 43
    • 44349193331 scopus 로고    scopus 로고
    • Neurexin 1alpha structural variants associated with autism
    • Yan J., et al. Neurexin 1alpha structural variants associated with autism. Neurosci. Lett. 2008, 438:368-370.
    • (2008) Neurosci. Lett. , vol.438 , pp. 368-370
    • Yan, J.1
  • 44
    • 42049091624 scopus 로고    scopus 로고
    • A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha
    • Zahir F.R., et al. A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. J. Med. Genet. 2008, 45:239-243.
    • (2008) J. Med. Genet. , vol.45 , pp. 239-243
    • Zahir, F.R.1
  • 45
    • 69749113369 scopus 로고    scopus 로고
    • A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export
    • Zhang C., 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
  • 46
    • 72149095158 scopus 로고    scopus 로고
    • CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
    • Zweier C., et al. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am. J. Hum. Genet. 2009, 85:655-666.
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 655-666
    • Zweier, C.1


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