메뉴 건너뛰기




Volumn 11, Issue 3, 2011, Pages 204-217

The Autism candidate gene neurobeachin encodes a scaffolding protein implicated in membrane trafficking and signaling

Author keywords

Autism; EGFR; Neurobeachin; Notch; Regulated secretion; Rugose; SEL 2; Synapse

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; CAENORHABDITIS ELEGANS PROTEIN; CYCLIC AMP DEPENDENT PROTEIN KINASE; EPIDERMAL GROWTH FACTOR RECEPTOR; LIPOPOLYSACCHARIDE RESPONSIVE VESICLE TRAFFICKING BEIGE-LIKE ANCHOR PROTEIN; MONOAMINE DERIVATIVE; NERVE GROWTH FACTOR; NEUROBEACHIN; NEUROPEPTIDE; NEUROTRANSMITTER; NEUROTROPHIN; NOTCH RECEPTOR; PROTEIN; PROTEIN BEACH; PROTEIN SEL 2; RUGOSE PROTEIN; SCAFFOLD PROTEIN; SNARE PROTEIN; UNCLASSIFIED DRUG;

EID: 79953326969     PISSN: 15665240     EISSN: None     Source Type: Journal    
DOI: 10.2174/156652411795243432     Document Type: Article
Times cited : (42)

References (142)
  • 2
    • 67049118065 scopus 로고    scopus 로고
    • Epidemiology of pervasive developmental disorders
    • Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res 2009; 65(6): 591-598.
    • (2009) Pediatr Res , vol.65 , Issue.6 , pp. 591-598
    • Fombonne, E.1
  • 3
    • 33845797961 scopus 로고    scopus 로고
    • The genetics of autistic disorders and its clinical relevance: A review of the literature
    • Freitag C. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 2007; 12(1): 2-22.
    • (2007) Mol Psychiatry , vol.12 , Issue.1 , pp. 2-22
    • Freitag, C.1
  • 4
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • Abrahams B, Geschwind D. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008; 9(5): 341-355.
    • (2008) Nat Rev Genet , vol.9 , Issue.5 , pp. 341-355
    • Abrahams, B.1    Geschwind, D.2
  • 5
    • 50249084423 scopus 로고    scopus 로고
    • What's new in autism?
    • Steyaert J, De la Marche W. What's new in autism? Eur J Pediatr 2008; 167(10): 1091-1101.
    • (2008) Eur J Pediatr , vol.167 , Issue.10 , pp. 1091-1101
    • Steyaert, J.1    de la Marche, W.2
  • 6
    • 0028906338 scopus 로고
    • Autism as a strongly genetic disorder: Evidence from a British twin study
    • Bailey A, Le Couteur A, Gottesman I, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995; 25(1): 63-77.
    • (1995) Psychol Med , vol.25 , Issue.1 , pp. 63-77
    • Bailey, A.1    le Couteur, A.2    Gottesman, I.3
  • 7
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions
    • Cook EJ, Scherer S. Copy-number variations associated with neuropsychiatric conditions. Nature 2008; 455(7215): 919-923.
    • (2008) Nature , vol.455 , Issue.7215 , pp. 919-923
    • Cook, E.J.1    Scherer, S.2
  • 8
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
    • Vorstman J, Staal W, van Daalen E, van Engeland H, Hochstenbach P, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006; 11(1): 1, 18-28.
    • (2006) Mol Psychiatry , vol.11 , Issue.1 , pp. 18-28
    • Vorstman, J.1    Staal, W.2    van Daalen, E.3    van Engeland, H.4    Hochstenbach, P.5    Franke, L.6
  • 9
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari P, Paterson AD, Zwaigenbaum L, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007; 39(3): 319-328.
    • (2007) Nat Genet , vol.39 , Issue.3 , pp. 319-328
    • Szatmari, P.1    Paterson, A.D.2    Zwaigenbaum, L.3
  • 10
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007; 316(5823): 445-449.
    • (2007) Science , vol.316 , Issue.5823 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3
  • 11
    • 0038238370 scopus 로고    scopus 로고
    • The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
    • Castermans D, Wilquet V, Parthoens E, et al. The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J Med Genet 2003; 40(5): 352-356.
    • (2003) J Med Genet , vol.40 , Issue.5 , pp. 352-356
    • Castermans, D.1    Wilquet, V.2    Parthoens, E.3
  • 12
    • 3042542935 scopus 로고    scopus 로고
    • Chromosomal anomalies in individuals with autism: A strategy towards the identification of genes involved in autism
    • Castermans D, Wilquet V, Steyaert J, Van de Ven W, Fryns JP, Devriendt K. Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism. Autism 2004; 8(2): 141-161.
    • (2004) Autism , vol.8 , Issue.2 , pp. 141-161
    • Castermans, D.1    Wilquet, V.2    Steyaert, J.3    van de Ven, W.4    Fryns, J.P.5    Devriendt, K.6
  • 13
    • 50249182517 scopus 로고    scopus 로고
    • Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
    • Castermans D, Thienpont B, Volders K, et al. Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. Eur J Hum Genet 2008; 16(10): 1187-1192.
    • (2008) Eur J Hum Genet , vol.16 , Issue.10 , pp. 1187-1192
    • Castermans, D.1    Thienpont, B.2    Volders, K.3
  • 14
    • 33947632990 scopus 로고    scopus 로고
    • Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism
    • Castermans D, Vermeesch JR, Fryns JP, et al. Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet 2007; 15(4): 422-431.
    • (2007) Eur J Hum Genet , vol.15 , Issue.4 , pp. 422-431
    • Castermans, D.1    Vermeesch, J.R.2    Fryns, J.P.3
  • 15
    • 67349112868 scopus 로고    scopus 로고
    • Common genetic variants on 5p14.1 associate with autism spectrum disorders
    • Wang K, Zhang H, Ma D, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459(7246): 528-533.
    • (2009) Nature , vol.459 , Issue.7246 , pp. 528-533
    • Wang, K.1    Zhang, H.2    Ma, D.3
  • 16
    • 70349956425 scopus 로고    scopus 로고
    • A genome-wide linkage and association scan reveals novel loci for autism
    • Consortium GDPoJHtA
    • Weiss LA, Arking DE, Daly MJ, Chakravarti A, Consortium GDPoJHtA. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461(7265): 802-808.
    • (2009) Nature , vol.461 , Issue.7265 , pp. 802-808
    • Weiss, L.A.1    Arking, D.E.2    Daly, M.J.3    Chakravarti, A.4
  • 17
    • 70449629672 scopus 로고    scopus 로고
    • Autism genetics: Emerging data from genomewide copy-number and single nucleotide polymorphism scans
    • Weiss LA. Autism genetics: emerging data from genomewide copy-number and single nucleotide polymorphism scans. Expert Rev Mol Diagn 2009; 9(8): 795-803.
    • (2009) Expert Rev Mol Diagn , vol.9 , Issue.8 , pp. 795-803
    • Weiss, L.A.1
  • 18
    • 67650750977 scopus 로고    scopus 로고
    • A synaptic trek to autism
    • Bourgeron T. A synaptic trek to autism. Curr Opin Neurobiol 2009; 19(2): 231-234.
    • (2009) Curr Opin Neurobiol , vol.19 , Issue.2 , pp. 231-234
    • Bourgeron, T.1
  • 19
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the Xlinked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain S, Quach H, Betancur C, et al. Mutations of the Xlinked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003; 34(1): 27-29.
    • (2003) Nat Genet , vol.34 , Issue.1 , pp. 27-29
    • Jamain, S.1    Quach, H.2    Betancur, C.3
  • 20
    • 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, 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(3): 552-557.
    • (2004) Am J Hum Genet , vol.74 , Issue.3 , pp. 552-557
    • Laumonnier, F.1    Bonnet-Brilhault, F.2    Gomot, M.3
  • 21
    • 35148858044 scopus 로고    scopus 로고
    • A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
    • Tabuchi K, Blundell J, Etherton MR, et al. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 2007; 318(5847): 71-76.
    • (2007) Science , vol.318 , Issue.5847 , pp. 71-76
    • Tabuchi, K.1    Blundell, J.2    Etherton, M.R.3
  • 22
    • 38749084216 scopus 로고    scopus 로고
    • Disruption of neurexin 1 associated with autism spectrum disorder
    • Kim HG, Kishikawa S, Higgins AW, et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 2008; 82(1): 199-207.
    • (2008) Am J Hum Genet , vol.82 , Issue.1 , pp. 199-207
    • Kim, H.G.1    Kishikawa, S.2    Higgins, A.W.3
  • 23
    • 70449686185 scopus 로고    scopus 로고
    • Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
    • Etherton MR, Blaiss CA, Powell CM, Sudhof TC. Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc Natl Acad Sci USA 2009; 106(42): 17998-18003.
    • (2009) Proc Natl Acad Sci USA , vol.106 , Issue.42 , pp. 17998-18003
    • Etherton, M.R.1    Blaiss, C.A.2    Powell, C.M.3    Sudhof, T.C.4
  • 24
    • 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(1): 25-27.
    • (2007) Nat Genet , vol.39 , Issue.1 , pp. 25-27
    • Durand, C.M.1    Betancur, C.2    Boeckers, T.M.3
  • 25
    • 38749140677 scopus 로고    scopus 로고
    • Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    • Alarcón M, Abrahams BS, Stone JL, et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008; 82(1): 150-159.
    • (2008) Am J Hum Genet , vol.82 , Issue.1 , pp. 150-159
    • Alarcón, M.1    Abrahams, B.S.2    Stone, J.L.3
  • 26
    • 38749096303 scopus 로고    scopus 로고
    • A common genetic variant in the neurexin super family member CNTNAP2 increases familial risk of autism
    • Arking DE, Cutler DJ, Brune CW, et al. A common genetic variant in the neurexin super family member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008; 82(1): 160-164.
    • (2008) Am J Hum Genet , vol.82 , Issue.1 , pp. 160-164
    • Arking, D.E.1    Cutler, D.J.2    Brune, C.W.3
  • 27
    • 57149090343 scopus 로고    scopus 로고
    • A functional genetic link between distinct developmental language disorders
    • Vernes S, Newbury D, Abrahams B, et al. A functional genetic link between distinct developmental language disorders. N Engl J Med 2008; 359(22): 2337-2345.
    • (2008) N Engl J Med , vol.359 , Issue.22 , pp. 2337-2345
    • Vernes, S.1    Newbury, D.2    Abrahams, B.3
  • 28
    • 33646142995 scopus 로고    scopus 로고
    • Pten regulates neuronal arborization and social interaction in mice
    • Kwon CH, Luikart BW, Powell CM, et al. Pten regulates neuronal arborization and social interaction in mice. Neuron 2006; 50(3): 377-388.
    • (2006) Neuron , vol.50 , Issue.3 , pp. 377-388
    • Kwon, C.H.1    Luikart, B.W.2    Powell, C.M.3
  • 29
    • 49649103178 scopus 로고    scopus 로고
    • Genetic disorders associated with macrocephaly
    • Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet A 2008; 146A(15): 2023-2037.
    • (2008) Am J Med Genet A , vol.146 A , Issue.15 , pp. 2023-2037
    • Williams, C.A.1    Dagli, A.2    Battaglia, A.3
  • 30
  • 31
    • 0033573212 scopus 로고    scopus 로고
    • An autosomal genomic screen for autism. Collaborative linkage study of autism
    • Barrett S, Beck J, Bernier R, et al. An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet 1999; 88(6): 609-615.
    • (1999) Am J Med Genet , vol.88 , Issue.6 , pp. 609-615
    • Barrett, S.1    Beck, J.2    Bernier, R.3
  • 32
    • 0035828093 scopus 로고    scopus 로고
    • Incorporating language phenotypes strengthens evidence of linkage to autism
    • Bradford Y, Haines J, Hutcheson H, et al. Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet 2001; 105(6): 539-547.
    • (2001) Am J Med Genet , vol.105 , Issue.6 , pp. 539-547
    • Bradford, Y.1    Haines, J.2    Hutcheson, H.3
  • 33
    • 0037810302 scopus 로고    scopus 로고
    • Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits
    • Smith M, Woodroffe A, Smith R, et al. Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits. Cytogenet Genome Res 2002; 98(4): 233-239.
    • (2002) Cytogenet Genome Res , vol.98 , Issue.4 , pp. 233-239
    • Smith, M.1    Woodroffe, A.2    Smith, R.3
  • 34
    • 24144501508 scopus 로고    scopus 로고
    • Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder
    • Reddy K. Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet 2005; 6: 3.
    • (2005) BMC Med Genet , vol.6 , pp. 3
    • Reddy, K.1
  • 35
    • 0024026612 scopus 로고
    • Association of autism, retinoblastoma, and reduced esterase D activity
    • Ritvo E, Mason-Brothers A, Menkes J, Sparkes R. Association of autism, retinoblastoma, and reduced esterase D activity. Arch Gen Psychiatry 1988; 45(6): 600.
    • (1988) Arch Gen Psychiatry , vol.45 , Issue.6 , pp. 600
    • Ritvo, E.1    Mason-Brothers, A.2    Menkes, J.3    Sparkes, R.4
  • 36
    • 29244489245 scopus 로고    scopus 로고
    • The neurobeachin gene spans the common fragile site FRA13A
    • Savelyeva L, Sagulenko E, Schmitt J, Schwab M. The neurobeachin gene spans the common fragile site FRA13A. Hum Genet 2006; 118(5): 551-558.
    • (2006) Hum Genet , vol.118 , Issue.5 , pp. 551-558
    • Savelyeva, L.1    Sagulenko, E.2    Schmitt, J.3    Schwab, M.4
  • 37
    • 36248991908 scopus 로고    scopus 로고
    • Nonrandom inactivation of large common fragile site genes in different cancers
    • McAvoy S, Ganapathiraju S, Ducharme-Smith A, et al. Nonrandom inactivation of large common fragile site genes in different cancers. Cytogenet Genome Res 2007; 118(2-4): 260-269.
    • (2007) Cytogenet Genome Res , vol.118 , Issue.2-4 , pp. 260-269
    • McAvoy, S.1    Ganapathiraju, S.2    Ducharme-Smith, A.3
  • 38
    • 58149195202 scopus 로고    scopus 로고
    • Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma
    • O'Neal J, Gao F, Hassan A, et al. Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma. Exp Hematol 2009; 37(2): 234-244.
    • (2009) Exp Hematol , vol.37 , Issue.2 , pp. 234-244
    • O'Neal, J.1    Gao, F.2    Hassan, A.3
  • 39
    • 30344476413 scopus 로고    scopus 로고
    • Lowfrequency common fragile sites: Link to neuropsychiatric disorders?
    • Savelyeva L, Sagulenko E, Schmitt J, Schwab M. Lowfrequency common fragile sites: link to neuropsychiatric disorders? Cancer Lett 2006; 232(1): 58-69.
    • (2006) Cancer Lett , vol.232 , Issue.1 , pp. 58-69
    • Savelyeva, L.1    Sagulenko, E.2    Schmitt, J.3    Schwab, M.4
  • 40
    • 77952540353 scopus 로고    scopus 로고
    • SCAMP5, NBEA and AMISYN: Three candidate genes for autism involved in secretion of large dense-core vesicles
    • Castermans D, Volders K, Crepel A, et al. SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet 2010; 19(7): 1368-1378.
    • (2010) Hum Mol Genet , vol.19 , Issue.7 , pp. 1368-1378
    • Castermans, D.1    Volders, K.2    Crepel, A.3
  • 41
    • 33750079257 scopus 로고    scopus 로고
    • High frequency of neurexin 1beta signal peptide structural variants in patients with autism
    • Feng J, Schroer R, Yan J, et al. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 2006; 409(1): 10-13.
    • (2006) Neurosci Lett , vol.409 , Issue.1 , pp. 10-13
    • Feng, J.1    Schroer, R.2    Yan, J.3
  • 42
    • 0034548872 scopus 로고    scopus 로고
    • Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic
    • Wang X, Herberg FW, Laue MM, et al. Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic. J Neurosci 2000; 20(23): 8551-8565.
    • (2000) J Neurosci , vol.20 , Issue.23 , pp. 8551-8565
    • Wang, X.1    Herberg, F.W.2    Laue, M.M.3
  • 43
    • 0038782826 scopus 로고    scopus 로고
    • The role of BEACH proteins in Dictyostelium
    • De Lozanne A. The role of BEACH proteins in Dictyostelium. Traffic 2003; 4(1): 6-12.
    • (2003) Traffic , vol.4 , Issue.1 , pp. 6-12
    • de Lozanne, A.1
  • 44
    • 18244405827 scopus 로고    scopus 로고
    • Apparent genotypephenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
    • Karim MA, Suzuki K, Fukai K, et al. Apparent genotypephenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002; 108(1): 16-22.
    • (2002) Am J Med Genet , vol.108 , Issue.1 , pp. 16-22
    • Karim, M.A.1    Suzuki, K.2    Fukai, K.3
  • 45
    • 0030752986 scopus 로고    scopus 로고
    • Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein
    • Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz RA. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 1997; 6(7): 1087-1089.
    • (1997) Hum Mol Genet , vol.6 , Issue.7 , pp. 1087-1089
    • Karim, M.A.1    Nagle, D.L.2    Kandil, H.H.3    Bürger, J.4    Moore, K.J.5    Spritz, R.A.6
  • 46
    • 12944277163 scopus 로고    scopus 로고
    • Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome
    • Certain S, Barrat F, Pastural E, et al. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. Blood 2000; 95(3): 979-983.
    • (2000) Blood , vol.95 , Issue.3 , pp. 979-983
    • Certain, S.1    Barrat, F.2    Pastural, E.3
  • 47
    • 77952770251 scopus 로고    scopus 로고
    • Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
    • Manoli I, Golas G, Westbroek W, et al. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. Am J Med Genet A 2010; 152A(6): 1474-1483.
    • (2010) Am J Med Genet A , vol.152 A , Issue.6 , pp. 1474-1483
    • Manoli, I.1    Golas, G.2    Westbroek, W.3
  • 48
    • 0030293556 scopus 로고    scopus 로고
    • Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
    • Nagle D, Karim M, Woolf E, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 1996; 14(3): 307-311.
    • (1996) Nat Genet , vol.14 , Issue.3 , pp. 307-311
    • Nagle, D.1    Karim, M.2    Woolf, E.3
  • 49
    • 0029781458 scopus 로고    scopus 로고
    • Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42- q44 in a segment of conserved synteny that includes the mouse beige locus (bg)
    • Fukai K, Oh J, Karim M, et al. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42- q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 1996; 59(3): 620-624.
    • (1996) Am J Hum Genet , vol.59 , Issue.3 , pp. 620-624
    • Fukai, K.1    Oh, J.2    Karim, M.3
  • 50
    • 9744227116 scopus 로고    scopus 로고
    • Crystal structure of the PH-BEACH domains of human LRBA/BGL
    • Gebauer D, Li J, Jogl G, Shen Y, Myszka D, Tong L. Crystal structure of the PH-BEACH domains of human LRBA/BGL. Biochemistry 2004; 43(47): 14873-14880.
    • (2004) Biochemistry , vol.43 , Issue.47 , pp. 14873-14880
    • Gebauer, D.1    Li, J.2    Jogl, G.3    Shen, Y.4    Myszka, D.5    Tong, L.6
  • 51
    • 0037119998 scopus 로고    scopus 로고
    • Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain
    • Jogl G, Shen Y, Gebauer D, et al. Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain. EMBO J 2002; 21(18): 4785-4795.
    • (2002) EMBO J , vol.21 , Issue.18 , pp. 4785-4795
    • Jogl, G.1    Shen, Y.2    Gebauer, D.3
  • 52
    • 0007724488 scopus 로고    scopus 로고
    • The PH superfold: A structural scaffold for multiple functions
    • Blomberg N, Baraldi E, Nilges M, Saraste M. The PH superfold: a structural scaffold for multiple functions. Trends Biochem Sci 1999; 24(11): 441-445.
    • (1999) Trends Biochem Sci , vol.24 , Issue.11 , pp. 441-445
    • Blomberg, N.1    Baraldi, E.2    Nilges, M.3    Saraste, M.4
  • 53
    • 38549092474 scopus 로고    scopus 로고
    • Membrane recognition by phospholipid-binding domains
    • Lemmon M. Membrane recognition by phospholipid-binding domains. Nat Rev Mol Cell Biol 2008; 9(2): 99-111.
    • (2008) Nat Rev Mol Cell Biol , vol.9 , Issue.2 , pp. 99-111
    • Lemmon, M.1
  • 54
    • 0028076764 scopus 로고
    • The ancient regulatory-protein family of WD-repeat proteins
    • Neer EJ, Schmidt CJ, Nambudripad R, Smith TF. The ancient regulatory-protein family of WD-repeat proteins. Nature 1994; 371(6495): 297-300.
    • (1994) Nature , vol.371 , Issue.6495 , pp. 297-300
    • Neer, E.J.1    Schmidt, C.J.2    Nambudripad, R.3    Smith, T.F.4
  • 55
    • 0033133919 scopus 로고    scopus 로고
    • The WD repeat: A common architecture for diverse functions
    • Smith TF, Gaitatzes C, Saxena K, Neer EJ. The WD repeat: a common architecture for diverse functions. Trends Biochem Sci 1999; 24(5): 181-185.
    • (1999) Trends Biochem Sci , vol.24 , Issue.5 , pp. 181-185
    • Smith, T.F.1    Gaitatzes, C.2    Saxena, K.3    Neer, E.J.4
  • 56
    • 0030595340 scopus 로고    scopus 로고
    • FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase
    • Adam-Klages S, Adam D, Wiegmann K, et al. FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase. Cell 1996; 86(6): 937-947.
    • (1996) Cell , vol.86 , Issue.6 , pp. 937-947
    • Adam-Klages, S.1    Adam, D.2    Wiegmann, K.3
  • 57
    • 0040318886 scopus 로고    scopus 로고
    • CD40 signals apoptosis through FAN-regulated activation of the sphingomyelin-ceramide pathway
    • Ségui B, Andrieu-Abadie N, Adam-Klages S, et al. CD40 signals apoptosis through FAN-regulated activation of the sphingomyelin-ceramide pathway. J Biol Chem 1999; 274(52): 37251-37258.
    • (1999) J Biol Chem , vol.274 , Issue.52 , pp. 37251-37258
    • Ségui, B.1    Andrieu-Abadie, N.2    Adam-Klages, S.3
  • 58
    • 0035313273 scopus 로고    scopus 로고
    • Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins
    • Wang J, Howson J, Haller E, Kerr W. Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins. J Immunol 2001; 166(7): 4586-4595.
    • (2001) J Immunol , vol.166 , Issue.7 , pp. 4586-4595
    • Wang, J.1    Howson, J.2    Haller, E.3    Kerr, W.4
  • 59
    • 0022534294 scopus 로고
    • Heterogeneous distribution of the cAMP receptor protein RII in the nervous system: Evidence for its intracellular accumulation on microtubules, microtubule-organizing centers, and in the area of the Golgi complex
    • De Camilli P, Moretti M, Donini SD, Walter U, Lohmann SM. Heterogeneous distribution of the cAMP receptor protein RII in the nervous system: evidence for its intracellular accumulation on microtubules, microtubule-organizing centers, and in the area of the Golgi complex. J Cell Biol 1986; 103(1): 189-203.
    • (1986) J Cell Biol , vol.103 , Issue.1 , pp. 189-203
    • de Camilli, P.1    Moretti, M.2    Donini, S.D.3    Walter, U.4    Lohmann, S.M.5
  • 60
    • 0031474609 scopus 로고    scopus 로고
    • Protein kinase A activity is required for the budding of constitutive transport vesicles from the trans-Golgi network
    • Muñiz M, Martín ME, Hidalgo J, Velasco A. Protein kinase A activity is required for the budding of constitutive transport vesicles from the trans-Golgi network. Proc Natl Acad Sci USA 1997; 94(26): 14461-14466.
    • (1997) Proc Natl Acad Sci USA , vol.94 , Issue.26 , pp. 14461-14466
    • Muñiz, M.1    Martín, M.E.2    Hidalgo, J.3    Velasco, A.4
  • 61
    • 0028033742 scopus 로고
    • An elevation of cytosolic protein phosphorylation modulates trimeric G-protein regulation of secretory vesicle formation from the trans-Golgi network
    • Ohashi M, Huttner WB. An elevation of cytosolic protein phosphorylation modulates trimeric G-protein regulation of secretory vesicle formation from the trans-Golgi network. J Biol Chem 1994; 269(40): 24897-24905.
    • (1994) J Biol Chem , vol.269 , Issue.40 , pp. 24897-24905
    • Ohashi, M.1    Huttner, W.B.2
  • 62
    • 65549138556 scopus 로고    scopus 로고
    • A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family
    • Burgess A, Mornon JP, de Saint-Basile G, Callebaut I. A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family. Bioinformatics 2009; 25(10): 1219-1222.
    • (2009) Bioinformatics , vol.25 , Issue.10 , pp. 1219-1222
    • Burgess, A.1    Mornon, J.P.2    de Saint-Basile, G.3    Callebaut, I.4
  • 63
    • 23144438784 scopus 로고    scopus 로고
    • New insights into clostridial neurotoxin-SNARE interactions
    • Breidenbach M, Brunger A. New insights into clostridial neurotoxin-SNARE interactions. Trends Mol Med 2005; 11(8): 377-381.
    • (2005) Trends Mol Med , vol.11 , Issue.8 , pp. 377-381
    • Breidenbach, M.1    Brunger, A.2
  • 65
    • 77955335145 scopus 로고    scopus 로고
    • Armadillo-repeat protein functions: Questions for little creatures
    • Tewari R, Bailes E, Bunting K, Coates J. Armadillo-repeat protein functions: questions for little creatures. Trends Cell Biol 2010; 20(8): 470-481.
    • (2010) Trends Cell Biol , vol.20 , Issue.8 , pp. 470-481
    • Tewari, R.1    Bailes, E.2    Bunting, K.3    Coates, J.4
  • 66
    • 2942535831 scopus 로고    scopus 로고
    • Deregulated expression of LRBA facilitates cancer cell growth
    • Wang J, Gamsby J, Highfill S, et al. Deregulated expression of LRBA facilitates cancer cell growth. Oncogene 2004; 23(23): 4089-4097.
    • (2004) Oncogene , vol.23 , Issue.23 , pp. 4089-4097
    • Wang, J.1    Gamsby, J.2    Highfill, S.3
  • 67
    • 6944219934 scopus 로고    scopus 로고
    • Gene expression profiling of human erythroid progenitors by micro-serial analysis of gene expression
    • Fujishima N, Hirokawa M, Aiba N, et al. Gene expression profiling of human erythroid progenitors by micro-serial analysis of gene expression. Int J Hematol 2004; 80(3): 239-245.
    • (2004) Int J Hematol , vol.80 , Issue.3 , pp. 239-245
    • Fujishima, N.1    Hirokawa, M.2    Aiba, N.3
  • 68
    • 33846815516 scopus 로고    scopus 로고
    • Identification of novel genes that co-cluster with estrogen receptor alpha in breast tumor biopsy specimens, using a large-scale real-time reverse transcription-PCR approach
    • Tozlu S, Girault I, Vacher S, et al. Identification of novel genes that co-cluster with estrogen receptor alpha in breast tumor biopsy specimens, using a large-scale real-time reverse transcription-PCR approach. Endocr Relat Cancer 2006; 13(4): 1109-1120.
    • (2006) Endocr Relat Cancer , vol.13 , Issue.4 , pp. 1109-1120
    • Tozlu, S.1    Girault, I.2    Vacher, S.3
  • 70
    • 2942566692 scopus 로고    scopus 로고
    • Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma
    • Chen J, Lu Y, Xu J, et al. Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. Brain Res Mol Brain Res 2004; 125(1-2): 147-155.
    • (2004) Brain Res Mol Brain Res , vol.125 , Issue.1-2 , pp. 147-155
    • Chen, J.1    Lu, Y.2    Xu, J.3
  • 71
    • 0030666203 scopus 로고    scopus 로고
    • Molecular characterization of a novel a kinase anchor protein from Drosophila melanogaster
    • Han J, Baker N, Rubin C. Molecular characterization of a novel a kinase anchor protein from Drosophila melanogaster. J Biol Chem 1997; 272(42): 26611-26619.
    • (1997) J Biol Chem , vol.272 , Issue.42 , pp. 26611-26619
    • Han, J.1    Baker, N.2    Rubin, C.3
  • 72
    • 0035989399 scopus 로고    scopus 로고
    • Rugose (rg), a Drosophila A kinase anchor protein, is required for retinal pattern formation and interacts genetically with multiple signaling pathways
    • Shamloula H, Mbogho M, Pimentel A, et al. Rugose (rg), a Drosophila A kinase anchor protein, is required for retinal pattern formation and interacts genetically with multiple signaling pathways. Genetics 2002; 161(2): 693-710.
    • (2002) Genetics , vol.161 , Issue.2 , pp. 693-710
    • Shamloula, H.1    Mbogho, M.2    Pimentel, A.3
  • 73
    • 0036329125 scopus 로고    scopus 로고
    • Genetic screen for modifiers of the rough eye phenotype resulting from overexpression of the Notch antagonist hairless in Drosophila
    • Schreiber S, Preiss A, Nagel A, Wech I, Maier D. Genetic screen for modifiers of the rough eye phenotype resulting from overexpression of the Notch antagonist hairless in Drosophila. Genesis 2002; 33(3): 141-152.
    • (2002) Genesis , vol.33 , Issue.3 , pp. 141-152
    • Schreiber, S.1    Preiss, A.2    Nagel, A.3    Wech, I.4    Maier, D.5
  • 74
    • 1542348986 scopus 로고    scopus 로고
    • Mutation in rugose gene locus affects the pigment cell number and alters the optic lobe phenotype in the Drosophila visual system
    • Shamloula H. Mutation in rugose gene locus affects the pigment cell number and alters the optic lobe phenotype in the Drosophila visual system. J Egypt Soc Parasitol 2003; 33(3): 955-967.
    • (2003) J Egypt Soc Parasitol , vol.33 , Issue.3 , pp. 955-967
    • Shamloula, H.1
  • 75
    • 13544274421 scopus 로고    scopus 로고
    • Mutations in rugose promote cell typespecific apoptosis in the Drosophila eye
    • Wech I, Nagel A. Mutations in rugose promote cell typespecific apoptosis in the Drosophila eye. Cell Death Differ 2005; 12(2): 145-152.
    • (2005) Cell Death Differ , vol.12 , Issue.2 , pp. 145-152
    • Wech, I.1    Nagel, A.2
  • 76
    • 33750869046 scopus 로고    scopus 로고
    • Signal integration during development: Mechanisms of EGFR and Notch pathway function and cross-talk
    • Doroquez DB, Rebay I. Signal integration during development: mechanisms of EGFR and Notch pathway function and cross-talk. Crit Rev Biochem Mol Biol 2006; 41(6): 339-385.
    • (2006) Crit Rev Biochem Mol Biol , vol.41 , Issue.6 , pp. 339-385
    • Doroquez, D.B.1    Rebay, I.2
  • 77
    • 0033617522 scopus 로고    scopus 로고
    • Notch signaling: Cell fate control and signal integration in development
    • Artavanis-Tsakonas S, Rand M, Lake R. Notch signaling: cell fate control and signal integration in development. Science 1999; 284(5415): 770-776.
    • (1999) Science , vol.284 , Issue.5415 , pp. 770-776
    • Artavanis-Tsakonas, S.1    Rand, M.2    Lake, R.3
  • 78
    • 33947304006 scopus 로고    scopus 로고
    • SEL-2, the C. elegans neurobeachin/LRBA homolog, is a negative regulator of lin-12/Notch activity and affects endosomal traffic in polarized epithelial cells
    • de Souza N, Vallier L, Fares H, Greenwald I. SEL-2, the C. elegans neurobeachin/LRBA homolog, is a negative regulator of lin-12/Notch activity and affects endosomal traffic in polarized epithelial cells. Development 2007; 134(4): 691-702.
    • (2007) Development , vol.134 , Issue.4 , pp. 691-702
    • de Souza, N.1    Vallier, L.2    Fares, H.3    Greenwald, I.4
  • 79
    • 33644857880 scopus 로고    scopus 로고
    • Regulation of Notch signalling by endocytosis and endosomal sorting
    • Le Borgne R. Regulation of Notch signalling by endocytosis and endosomal sorting. Curr Opin Cell Biol 2006; 18(2): 213-222.
    • (2006) Curr Opin Cell Biol , vol.18 , Issue.2 , pp. 213-222
    • le Borgne, R.1
  • 80
    • 54849372300 scopus 로고    scopus 로고
    • Endocytosis and intracellular trafficking of ErbBs
    • Sorkin A, Goh L. Endocytosis and intracellular trafficking of ErbBs. Exp Cell Res 2008; 314(17): 3093-3106.
    • (2008) Exp Cell Res , vol.314 , Issue.17 , pp. 3093-3106
    • Sorkin, A.1    Goh, L.2
  • 81
    • 77956926560 scopus 로고    scopus 로고
    • Notch and EGFR pathway interaction regulates neural stem cell number and selfrenewal
    • Aguirre A, Rubio M, Gallo V. Notch and EGFR pathway interaction regulates neural stem cell number and selfrenewal. Nature 2010; 467(7313): 323-327.
    • (2010) Nature , vol.467 , Issue.7313 , pp. 323-327
    • Aguirre, A.1    Rubio, M.2    Gallo, V.3
  • 82
    • 56749163716 scopus 로고    scopus 로고
    • Notch: From neural development to neurological disorders
    • Lathia J, Mattson M, Cheng A. Notch: from neural development to neurological disorders. J Neurochem 2008; 107(6): 1471-1481.
    • (2008) J Neurochem , vol.107 , Issue.6 , pp. 1471-1481
    • Lathia, J.1    Mattson, M.2    Cheng, A.3
  • 83
    • 31444447881 scopus 로고    scopus 로고
    • Notch signalling in vertebrate neural development
    • Louvi A, Artavanis-Tsakonas S. Notch signalling in vertebrate neural development. Nat Rev Neurosci 2006; 7(2): 93-102.
    • (2006) Nat Rev Neurosci , vol.7 , Issue.2 , pp. 93-102
    • Louvi, A.1    Artavanis-Tsakonas, S.2
  • 84
    • 1942541169 scopus 로고    scopus 로고
    • The role of epidermal growth factor and its receptors in mammalian CNS
    • Wong R, Guillaud L. The role of epidermal growth factor and its receptors in mammalian CNS. Cytokine Growth Factor Rev 2004; 15(2-3): 147-156.
    • (2004) Cytokine Growth Factor Rev , vol.15 , Issue.2-3 , pp. 147-156
    • Wong, R.1    Guillaud, L.2
  • 85
    • 36849086033 scopus 로고    scopus 로고
    • Activation of epidermal growth factor receptors in astrocytes: From development to neural injury
    • Liu B, Neufeld A. Activation of epidermal growth factor receptors in astrocytes: from development to neural injury. J Neurosci Res 2007; 85(16): 3523-3529.
    • (2007) J Neurosci Res , vol.85 , Issue.16 , pp. 3523-3529
    • Liu, B.1    Neufeld, A.2
  • 87
    • 2442570729 scopus 로고    scopus 로고
    • Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry
    • Hassel S, Eichner A, Yakymovych M, Hellman U, Knaus P, Souchelnytskyi S. Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry. Proteomics 2004; 4(5): 1346-1358.
    • (2004) Proteomics , vol.4 , Issue.5 , pp. 1346-1358
    • Hassel, S.1    Eichner, A.2    Yakymovych, M.3    Hellman, U.4    Knaus, P.5    Souchelnytskyi, S.6
  • 90
    • 74049162897 scopus 로고    scopus 로고
    • International Myeloma Working Group molecular classification of multiple myeloma: Spotlight review
    • Fonseca R, Bergsagel PL, Drach J, et al. International Myeloma Working Group molecular classification of multiple myeloma: spotlight review. Leukemia 2009; 23(12): 2210-2221.
    • (2009) Leukemia , vol.23 , Issue.12 , pp. 2210-2221
    • Fonseca, R.1    Bergsagel, P.L.2    Drach, J.3
  • 91
    • 50149120366 scopus 로고    scopus 로고
    • Cellular mechanisms of tumour suppression by the retinoblastoma gene
    • Burkhart DL, Sage J. Cellular mechanisms of tumour suppression by the retinoblastoma gene. Nat Rev Cancer 2008; 8(9): 671-682.
    • (2008) Nat Rev Cancer , vol.8 , Issue.9 , pp. 671-682
    • Burkhart, D.L.1    Sage, J.2
  • 92
    • 33846894934 scopus 로고    scopus 로고
    • Gene-expression signature of benign monoclonal gammopathy evident in multiple myeloma is linked to good prognosis
    • Zhan F, Barlogie B, Arzoumanian V, et al. Gene-expression signature of benign monoclonal gammopathy evident in multiple myeloma is linked to good prognosis. Blood 2007; 109(4): 1692-1700.
    • (2007) Blood , vol.109 , Issue.4 , pp. 1692-1700
    • Zhan, F.1    Barlogie, B.2    Arzoumanian, V.3
  • 93
    • 41349095228 scopus 로고    scopus 로고
    • Inhibition of Notch signaling induces apoptosis of myeloma cells and enhances sensitivity to chemotherapy
    • Nefedova Y, Sullivan DM, Bolick SC, Dalton WS, Gabrilovich DI. Inhibition of Notch signaling induces apoptosis of myeloma cells and enhances sensitivity to chemotherapy. Blood 2008; 111(4): 2220-2229.
    • (2008) Blood , vol.111 , Issue.4 , pp. 2220-2229
    • Nefedova, Y.1    Sullivan, D.M.2    Bolick, S.C.3    Dalton, W.S.4    Gabrilovich, D.I.5
  • 94
    • 0036297976 scopus 로고    scopus 로고
    • Regulatory subunits of PKA and breast cancer
    • Miller WR. Regulatory subunits of PKA and breast cancer. Ann N Y Acad Sci 2002; 968: 37-48.
    • (2002) Ann N Y Acad Sci , vol.968 , pp. 37-48
    • Miller, W.R.1
  • 95
    • 0033198811 scopus 로고    scopus 로고
    • Membrane trafficking of neurotransmitter transporters in the regulation of synaptic transmission
    • Liu Y, Krantz DE, Waites C, Edwards RH. Membrane trafficking of neurotransmitter transporters in the regulation of synaptic transmission. Trends Cell Biol 1999; 9(9): 356-363.
    • (1999) Trends Cell Biol , vol.9 , Issue.9 , pp. 356-363
    • Liu, Y.1    Krantz, D.E.2    Waites, C.3    Edwards, R.H.4
  • 96
    • 0034641833 scopus 로고    scopus 로고
    • Genetic defects of intracellularmembrane transport
    • Olkkonen VM, Ikonen E. Genetic defects of intracellularmembrane transport. N Engl J Med 2000; 343(15): 1095-1104.
    • (2000) N Engl J Med , vol.343 , Issue.15 , pp. 1095-1104
    • Olkkonen, V.M.1    Ikonen, E.2
  • 97
    • 1842484428 scopus 로고    scopus 로고
    • Lipid rafts and the regulation of exocytosis
    • Salaun C, James DJ, Chamberlain LH. Lipid rafts and the regulation of exocytosis. Traffic 2004; 5(4): 255-264.
    • (2004) Traffic , vol.5 , Issue.4 , pp. 255-264
    • Salaun, C.1    James, D.J.2    Chamberlain, L.H.3
  • 98
    • 0029435117 scopus 로고
    • Exocytosis
    • Morgan A. Exocytosis. Essays Biochem 1995; 30: 77-95.
    • (1995) Essays Biochem , vol.30 , pp. 77-95
    • Morgan, A.1
  • 99
    • 0037378045 scopus 로고    scopus 로고
    • Secretory granule exocytosis
    • Burgoyne RD, Morgan A. Secretory granule exocytosis. Physiol Rev 2003; 83(2):581-632.
    • (2003) Physiol Rev , vol.83 , Issue.2 , pp. 581-632
    • Burgoyne, R.D.1    Morgan, A.2
  • 100
    • 0033561478 scopus 로고    scopus 로고
    • A 29 kDa intracellular chloride channel p64H1 is associated with large dense-core vesicles in rat hippocampal neurons
    • Chuang JZ, Milner TA, Zhu M, Sung CH. A 29 kDa intracellular chloride channel p64H1 is associated with large dense-core vesicles in rat hippocampal neurons. J Neurosci 1999; 19(8): 2919-2928.
    • (1999) J Neurosci , vol.19 , Issue.8 , pp. 2919-2928
    • Chuang, J.Z.1    Milner, T.A.2    Zhu, M.3    Sung, C.H.4
  • 101
    • 0032177313 scopus 로고    scopus 로고
    • Protein and lipid sorting from the trans-Golgi network to secretory granules-recent developments
    • Thiele C, Huttner WB. Protein and lipid sorting from the trans-Golgi network to secretory granules-recent developments. Semin Cell Dev Biol 1998; 9(5): 511-516.
    • (1998) Semin Cell Dev Biol , vol.9 , Issue.5 , pp. 511-516
    • Thiele, C.1    Huttner, W.B.2
  • 103
    • 67649183815 scopus 로고    scopus 로고
    • Short-term plasticity of small synaptic vesicle (SSV) and large dense-core vesicle (LDCV) exocytosis
    • Park Y, Kim KT. Short-term plasticity of small synaptic vesicle (SSV) and large dense-core vesicle (LDCV) exocytosis. Cell Signal 2009; 21(10): 1465-1470.
    • (2009) Cell Signal , vol.21 , Issue.10 , pp. 1465-1470
    • Park, Y.1    Kim, K.T.2
  • 104
    • 1842681998 scopus 로고    scopus 로고
    • Neurobeachin is essential for neuromuscular synaptic transmission
    • Su Y, Balice-Gordon RJ, Hess DM, et al. Neurobeachin is essential for neuromuscular synaptic transmission. J Neurosci 2004; 24(14): 3627-3636.
    • (2004) J Neurosci , vol.24 , Issue.14 , pp. 3627-3636
    • Su, Y.1    Balice-Gordon, R.J.2    Hess, D.M.3
  • 105
    • 70450214965 scopus 로고    scopus 로고
    • Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses
    • Medrihan L, Rohlmann A, Fairless R, et al. Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses. J Physiol 2009; 587(Pt 21): 5095-5106
    • (2009) J Physiol , vol.587 , Issue.Pt 21 , pp. 5095-5106
    • Medrihan, L.1    Rohlmann, A.2    Fairless, R.3
  • 106
    • 33751396164 scopus 로고    scopus 로고
    • Protein sorting in the synaptic vesicle life cycle
    • Bonanomi D, Benfenati F, Valtorta F. Protein sorting in the synaptic vesicle life cycle. Prog Neurobiol 2006; 80(4): 177-217.
    • (2006) Prog Neurobiol , vol.80 , Issue.4 , pp. 177-217
    • Bonanomi, D.1    Benfenati, F.2    Valtorta, F.3
  • 107
    • 77949418629 scopus 로고    scopus 로고
    • Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder
    • Rubenstein JL. Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder. Curr Opin Neurol 2010; 23(2): 118-123.
    • (2010) Curr Opin Neurol , vol.23 , Issue.2 , pp. 118-123
    • Rubenstein, J.L.1
  • 109
    • 77954524943 scopus 로고    scopus 로고
    • Glutamate and GABA in the balance: Convergent pathways sustain seizures during status epilepticus
    • Naylor DE. Glutamate and GABA in the balance: convergent pathways sustain seizures during status epilepticus. Epilepsia 2010; 51 (Suppl 3): 106-109.
    • (2010) Epilepsia , vol.51 , Issue.SUPPL. 3 , pp. 106-109
    • Naylor, D.E.1
  • 110
    • 41549135609 scopus 로고    scopus 로고
    • Nonredundant function of secretory carrier membrane protein isoforms in dense core vesicle exocytosis
    • Liao H, Zhang J, Shestopal S, Szabo G, Castle A, Castle D. Nonredundant function of secretory carrier membrane protein isoforms in dense core vesicle exocytosis. Am J Physiol Cell Physiol 2008; 294(3): C797-C809.
    • (2008) Am J Physiol Cell Physiol , vol.294 , Issue.3
    • Liao, H.1    Zhang, J.2    Shestopal, S.3    Szabo, G.4    Castle, A.5    Castle, D.6
  • 111
    • 24644490120 scopus 로고    scopus 로고
    • Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome
    • Dani VS, Chang Q, Maffei A, Turrigiano GG, Jaenisch R, Nelson SB. Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc Natl Acad Sci USA 2005; 102(35): 12560-12565.
    • (2005) Proc Natl Acad Sci USA , vol.102 , Issue.35 , pp. 12560-12565
    • Dani, V.S.1    Chang, Q.2    Maffei, A.3    Turrigiano, G.G.4    Jaenisch, R.5    Nelson, S.B.6
  • 112
    • 33645882216 scopus 로고    scopus 로고
    • MeCP2-dependent transcriptional repression regulates excitatory neurotransmission
    • Nelson ED, Kavalali ET, Monteggia LM. MeCP2-dependent transcriptional repression regulates excitatory neurotransmission. Curr Biol 2006; 16(7): 710-716.
    • (2006) Curr Biol , vol.16 , Issue.7 , pp. 710-716
    • Nelson, E.D.1    Kavalali, E.T.2    Monteggia, L.M.3
  • 113
    • 23944490213 scopus 로고    scopus 로고
    • Recent advances in fragile X: A model for autism and neurodegeneration
    • Hagerman RJ, Ono MY, Hagerman PJ. Recent advances in fragile X: a model for autism and neurodegeneration. Curr Opin Psychiatry 2005; 18(5): 490-496.
    • (2005) Curr Opin Psychiatry , vol.18 , Issue.5 , pp. 490-496
    • Hagerman, R.J.1    Ono, M.Y.2    Hagerman, P.J.3
  • 114
    • 4444322917 scopus 로고    scopus 로고
    • Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors
    • Kaufmann WE, Cortell R, Kau AS, et al. Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. Am J Med Genet A 2004; 129A(3): 225-234.
    • (2004) Am J Med Genet A , vol.129 A , Issue.3 , pp. 225-234
    • Kaufmann, W.E.1    Cortell, R.2    Kau, A.S.3
  • 115
    • 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 JR, Bartley AF, Hays SA, Huber KM. Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome. J Neurophysiol 2008; 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
  • 117
    • 33847652967 scopus 로고    scopus 로고
    • Optimization of somatic inhibition at critical period onset in mouse visual cortex
    • Katagiri H, Fagiolini M, Hensch TK. Optimization of somatic inhibition at critical period onset in mouse visual cortex. Neuron 2007; 53(6): 805-812.
    • (2007) Neuron , vol.53 , Issue.6 , pp. 805-812
    • Katagiri, H.1    Fagiolini, M.2    Hensch, T.K.3
  • 118
    • 55549109082 scopus 로고    scopus 로고
    • Genetic and expression analyses reveal elevated expression of syntaxin 1A (STX1A) in high functioning autism
    • Nakamura K, Anitha A, Yamada K, et al. Genetic and expression analyses reveal elevated expression of syntaxin 1A (STX1A) in high functioning autism. Int J Neuropsychopharmacol 2008; 11(8): 1073-1084.
    • (2008) Int J Neuropsychopharmacol , vol.11 , Issue.8 , pp. 1073-1084
    • Nakamura, K.1    Anitha, A.2    Yamada, K.3
  • 119
    • 0242291090 scopus 로고    scopus 로고
    • Model of autism: Increased ratio of excitation/inhibition in key neural systems
    • Rubenstein JL, Merzenich MM. Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav 2003; 2(5): 255-267.
    • (2003) Genes Brain Behav , vol.2 , Issue.5 , pp. 255-267
    • Rubenstein, J.L.1    Merzenich, M.M.2
  • 120
    • 54049106103 scopus 로고    scopus 로고
    • Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
    • Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 2008; 455(7215): 912-918.
    • (2008) Nature , vol.455 , Issue.7215 , pp. 912-918
    • Ramocki, M.B.1    Zoghbi, H.Y.2
  • 122
    • 33645508923 scopus 로고    scopus 로고
    • Agouti-related protein is posttranslationally cleaved by proprotein convertase 1 to generate agouti-related protein (AGRP)83-132: Interaction between AGRP83-132 and melanocortin receptors cannot be influenced by syndecan-3
    • Creemers JW, Pritchard LE, Gyte A, et al. Agouti-related protein is posttranslationally cleaved by proprotein convertase 1 to generate agouti-related protein (AGRP)83-132: interaction between AGRP83-132 and melanocortin receptors cannot be influenced by syndecan-3. Endocrinology 2006; 147(4): 1621-1631.
    • (2006) Endocrinology , vol.147 , Issue.4 , pp. 1621-1631
    • Creemers, J.W.1    Pritchard, L.E.2    Gyte, A.3
  • 123
    • 0037008753 scopus 로고    scopus 로고
    • Amisyn, a novel syntaxin-binding protein that may regulate SNARE complex assembly
    • Scales SJ, Hesser BA, Masuda ES, Scheller RH. Amisyn, a novel syntaxin-binding protein that may regulate SNARE complex assembly. J Biol Chem 2002; 277(31): 28271-28279.
    • (2002) J Biol Chem , vol.277 , Issue.31 , pp. 28271-28279
    • Scales, S.J.1    Hesser, B.A.2    Masuda, E.S.3    Scheller, R.H.4
  • 124
    • 26244451799 scopus 로고    scopus 로고
    • SCAMP2 interacts with Arf6 and phospholipase D1 and links their function to exocytotic fusion pore formation in PC12 cells
    • Liu L, Liao H, Castle A, et al. SCAMP2 interacts with Arf6 and phospholipase D1 and links their function to exocytotic fusion pore formation in PC12 cells. Mol Biol Cell 2005; 16(10): 4463-4472.
    • (2005) Mol Biol Cell , vol.16 , Issue.10 , pp. 4463-4472
    • Liu, L.1    Liao, H.2    Castle, A.3
  • 125
    • 0037144425 scopus 로고    scopus 로고
    • Perturbation of a very late step of regulated exocytosis by a secretory carrier membrane protein (SCAMP2)-derived peptide
    • Guo Z, Liu L, Cafiso D, Castle D. Perturbation of a very late step of regulated exocytosis by a secretory carrier membrane protein (SCAMP2)-derived peptide. J Biol Chem 2002; 277(38): 35357-35363.
    • (2002) J Biol Chem , vol.277 , Issue.38 , pp. 35357-35363
    • Guo, Z.1    Liu, L.2    Cafiso, D.3    Castle, D.4
  • 126
    • 66449112462 scopus 로고    scopus 로고
    • SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition
    • Noh JY, Lee H, Song S, et al. SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition. J Biol Chem 2009; 284(17): 11318-11325.
    • (2009) J Biol Chem , vol.284 , Issue.17 , pp. 11318-11325
    • Noh, J.Y.1    Lee, H.2    Song, S.3
  • 127
    • 1842485038 scopus 로고    scopus 로고
    • Membrane fusion: Caught in a trap
    • Short B, Barr FA. Membrane fusion: caught in a trap. Curr Biol 2004; 14(5): R187-R189.
    • (2004) Curr Biol , vol.14 , Issue.5
    • Short, B.1    Barr, F.A.2
  • 128
    • 0346492581 scopus 로고    scopus 로고
    • i-SNAREs: Inhibitory SNAREs that fine-tune the specificity of membrane fusion
    • Varlamov O, Volchuk A, Rahimian V, et al. i-SNAREs: inhibitory SNAREs that fine-tune the specificity of membrane fusion. J Cell Biol 2004; 164(1): 79-88.
    • (2004) J Cell Biol , vol.164 , Issue.1 , pp. 79-88
    • Varlamov, O.1    Volchuk, A.2    Rahimian, V.3
  • 129
    • 0042160134 scopus 로고    scopus 로고
    • SNARE regulators: Matchmakers and matchbreakers
    • Gerst JE. SNARE regulators: matchmakers and matchbreakers. Biochim Biophys Acta 2003; 1641(2-3): 99-110.
    • (2003) Biochim Biophys Acta , vol.1641 , Issue.2-3 , pp. 99-110
    • Gerst, J.E.1
  • 130
    • 0035253856 scopus 로고    scopus 로고
    • t-SNARE dephosphorylation promotes SNARE assembly and exocytosis in yeast
    • Marash M, Gerst JE. t-SNARE dephosphorylation promotes SNARE assembly and exocytosis in yeast. EMBO J. 2001; 20(3): 411-421.
    • (2001) EMBO J , vol.20 , Issue.3 , pp. 411-421
    • Marash, M.1    Gerst, J.E.2
  • 131
    • 0042470298 scopus 로고    scopus 로고
    • Phosphorylation of the autoinhibitory domain of the Sso t-SNAREs promotes binding of the Vsm1 SNARE regulator in yeast
    • Marash M, Gerst JE. Phosphorylation of the autoinhibitory domain of the Sso t-SNAREs promotes binding of the Vsm1 SNARE regulator in yeast. Mol Biol Cell 2003; 14(8): 3114-3125.
    • (2003) Mol Biol Cell , vol.14 , Issue.8 , pp. 3114-3125
    • Marash, M.1    Gerst, J.E.2
  • 132
    • 25444454048 scopus 로고    scopus 로고
    • PKA-catalyzed phosphorylation of tomosyn and its implication in Ca2+- dependent exocytosis of neurotransmitter
    • Baba T, Sakisaka T, Mochida S, Takai Y. PKA-catalyzed phosphorylation of tomosyn and its implication in Ca2+- dependent exocytosis of neurotransmitter. J Cell Biol 2005; 170(7): 1113-1125.
    • (2005) J Cell Biol , vol.170 , Issue.7 , pp. 1113-1125
    • Baba, T.1    Sakisaka, T.2    Mochida, S.3    Takai, Y.4
  • 133
    • 77349112962 scopus 로고    scopus 로고
    • A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
    • Kumar RA, Sudi J, Babatz TD, et al. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet 2010; 47(2): 81-90.
    • (2010) J Med Genet , vol.47 , Issue.2 , pp. 81-90
    • Kumar, R.A.1    Sudi, J.2    Babatz, T.D.3
  • 134
    • 0034669992 scopus 로고    scopus 로고
    • Molecular mechanisms of platelet exocytosis: Insights into the secrete life of thrombocytes
    • Reed GL, Fitzgerald ML, Polgar J. Molecular mechanisms of platelet exocytosis: insights into the secrete life of thrombocytes. Blood 2000; 96(10): 3334-3342.
    • (2000) Blood , vol.96 , Issue.10 , pp. 3334-3342
    • Reed, G.L.1    Fitzgerald, M.L.2    Polgar, J.3
  • 135
    • 10544234621 scopus 로고    scopus 로고
    • The serotonin system in autism
    • Cook EH, Leventhal BL. The serotonin system in autism. Curr Opin Pediatr 1996; 8(4): 348-354.
    • (1996) Curr Opin Pediatr , vol.8 , Issue.4 , pp. 348-354
    • Cook, E.H.1    Leventhal, B.L.2
  • 137
    • 0035976524 scopus 로고    scopus 로고
    • Regulation of cell survival by secreted proneurotrophins
    • Lee R, Kermani P, Teng KK, Hempstead BL. Regulation of cell survival by secreted proneurotrophins. Science 2001; 294(5548): 1945-1948.
    • (2001) Science , vol.294 , Issue.5548 , pp. 1945-1948
    • Lee, R.1    Kermani, P.2    Teng, K.K.3    Hempstead, B.L.4
  • 138
    • 2542503520 scopus 로고    scopus 로고
    • Serum neurotrophin concentrations in autism and mental retardation: A pilot study
    • Miyazaki K, Narita N, Sakuta R, et al. Serum neurotrophin concentrations in autism and mental retardation: a pilot study. Brain Dev 2004; 26(5): 292-295.
    • (2004) Brain Dev , vol.26 , Issue.5 , pp. 292-295
    • Miyazaki, K.1    Narita, N.2    Sakuta, R.3
  • 139
    • 0035021249 scopus 로고    scopus 로고
    • Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation
    • Nelson KB, Grether JK, Croen LA, et al. Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. Ann Neurol 2001; 49(5): 597-606.
    • (2001) Ann Neurol , vol.49 , Issue.5 , pp. 597-606
    • Nelson, K.B.1    Grether, J.K.2    Croen, L.A.3
  • 140
    • 77957735529 scopus 로고    scopus 로고
    • A genome-wide scan for common alleles affecting risk for autism
    • Anney R, Klei L, Pinto D, et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010; 19(20): 4072-4082.
    • (2010) Hum Mol Genet , vol.19 , Issue.20 , pp. 4072-4082
    • Anney, R.1    Klei, L.2    Pinto, D.3
  • 141
    • 69549116227 scopus 로고    scopus 로고
    • Developmentally regulated Ca2+- dependent activator protein for secretion 2 (CAPS2) is involved in BDNF secretion and is associated with autism susceptibility
    • Sadakata T, Furuichi T. Developmentally regulated Ca2+- dependent activator protein for secretion 2 (CAPS2) is involved in BDNF secretion and is associated with autism susceptibility. Cerebellum 2009; 8(3): 312-322.
    • (2009) Cerebellum , vol.8 , Issue.3 , pp. 312-322
    • Sadakata, T.1    Furuichi, T.2
  • 142
    • 77953363689 scopus 로고    scopus 로고
    • Ca(2+)-dependent activator protein for secretion 2 and autistic-like phenotypes
    • Sadakata T, Furuichi T. Ca(2+)-dependent activator protein for secretion 2 and autistic-like phenotypes. Neurosci Res 2010; 67(3): 197-202.
    • (2010) Neurosci Res , vol.67 , Issue.3 , pp. 197-202
    • Sadakata, T.1    Furuichi, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.