NRXN1

Summary

Gene Symbol: NRXN1
Description: neurexin 1
Alias: Hs.22998, PTHSL2, SCZD17, neurexin-1, neurexin I
Species: human

Top Publications

  1. ncbi Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin
    Y A Ushkaryov
    Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas 75235
    Science 257:50-6. 1992
  2. doi Copy number variation in schizophrenia in the Japanese population
    Masashi Ikeda
    Medical Research Council MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom
    Biol Psychiatry 67:283-6. 2010
  3. pmc Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
    Michael S L Ching
    Division of Developmental Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am J Med Genet B Neuropsychiatr Genet 153:937-47. 2010
  4. pmc Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders
    Aristotle N Voineskos
    Centre for Addiction and Mental Health, University of Toronto, Toronto, Canada
    PLoS ONE 6:e20982. 2011
  5. pmc Neurexin-1α contributes to insulin-containing secretory granule docking
    Merrie Mosedale
    Pediatric Diabetes Research Center, Veterans Affairs San Diego Healthcare System, University of California San Diego, La Jolla, California 92093, USA
    J Biol Chem 287:6350-61. 2012
  6. doi Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients
    Thomas W Mühleisen
    Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany Institute of Human Genetics, University of Bonn, Bonn, Germany
    Schizophr Res 127:35-40. 2011
  7. doi The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response
    Tristram A P Lett
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Schizophr Res 132:121-4. 2011
  8. doi Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation
    Rafael J Camacho-Garcia
    Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Avda Manuel Siurot s n, Sevilla 41013, Spain
    Neurobiol Dis 47:135-43. 2012
  9. ncbi Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons
    B Ullrich
    Department of Molecular Genetics, Howard Hughes Medical Institute, University of Texas Southwestern Medical School, Dallas 75235
    Neuron 14:497-507. 1995
  10. ncbi Neuroligin 1: a splice site-specific ligand for beta-neurexins
    K Ichtchenko
    Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas 75235, USA
    Cell 81:435-43. 1995

Research Grants

  1. RNA-Seq studies of Gene Expression in Cells and Networks in FI and ACC in Autism
    Barbara J Wold; Fiscal Year: 2010
  2. Herbert M Lachman; Fiscal Year: 2016
  3. TrkB Agonist(s), a Potential Therapy for Autism Spectrum Disorders
    Yi Eve Sun; Fiscal Year: 2010
  4. LULU YIJU CHEN; Fiscal Year: 2015
  5. Identification of Candidate Genes at the Synapse in Autism Spectrum Disorders
    ABHA RANI GUPTA; Fiscal Year: 2013
  6. Changhui Pak; Fiscal Year: 2015
  7. SYNUCLEIN FUNCTIONS: ROLE IN PARKINSON'S DISEASE
    THOMAS SUDHOF; Fiscal Year: 2003
  8. APP, Alzheimer's Disease, and Synaptic Function
    THOMAS SUDHOF; Fiscal Year: 2008
  9. A systematic test of the relation of ASD heterogeneity to synaptic function
    THOMAS C contact SUDHOF; Fiscal Year: 2010
  10. Neural Mechanisms of Chemotherapy-Induced Cognitive Disorder
    Andrew Saykin; Fiscal Year: 2007

Scientific Experts

Detail Information

Publications122 found, 100 shown here

  1. ncbi Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin
    Y A Ushkaryov
    Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas 75235
    Science 257:50-6. 1992
    ..An antibody to neurexin I showed highly concentrated immunoreactivity at the synapse...
  2. doi Copy number variation in schizophrenia in the Japanese population
    Masashi Ikeda
    Medical Research Council MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom
    Biol Psychiatry 67:283-6. 2010
    Copy number variants (CNVs) have been shown to increase the risk to develop schizophrenia. The best supported findings are at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 and deletions at the gene neurexin 1 (NRXN1).
  3. pmc Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
    Michael S L Ching
    Division of Developmental Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am J Med Genet B Neuropsychiatr Genet 153:937-47. 2010
    Research has implicated mutations in the gene for neurexin-1 (NRXN1) in a variety of conditions including autism, schizophrenia, and nicotine dependence...
  4. pmc Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders
    Aristotle N Voineskos
    Centre for Addiction and Mental Health, University of Toronto, Toronto, Canada
    PLoS ONE 6:e20982. 2011
    Structural variation in the neurexin-1 (NRXN1) gene increases risk for both autism spectrum disorders (ASD) and schizophrenia...
  5. pmc Neurexin-1α contributes to insulin-containing secretory granule docking
    Merrie Mosedale
    Pediatric Diabetes Research Center, Veterans Affairs San Diego Healthcare System, University of California San Diego, La Jolla, California 92093, USA
    J Biol Chem 287:6350-61. 2012
    ..Neurexin-1α is the only transmembrane component of the docking machinery identified thus far. Our findings provide new insights into the mechanisms of insulin granule docking and exocytosis...
  6. doi Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients
    Thomas W Mühleisen
    Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany Institute of Human Genetics, University of Bonn, Bonn, Germany
    Schizophr Res 127:35-40. 2011
    Large rare deletions in NRXN1 increase the risk for schizophrenia...
  7. doi The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response
    Tristram A P Lett
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Schizophr Res 132:121-4. 2011
    Neurexin-1 (NRXN1) modulates recruitment of NMDA receptors. Furthermore, clozapine reduces hyperactivity of NMDA receptors. Thus, regulation of the NRXN1 gene may mediate the efficacy of clozapine at reducing cortical hyperactivity...
  8. doi Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation
    Rafael J Camacho-Garcia
    Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Avda Manuel Siurot s n, Sevilla 41013, Spain
    Neurobiol Dis 47:135-43. 2012
    ..To further explore the role of the NRXN1β gene in neurodevelopmental disorders, we have sequenced the coding exons of the gene in 86 cases with autism and ..
  9. ncbi Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons
    B Ullrich
    Department of Molecular Genetics, Howard Hughes Medical Institute, University of Texas Southwestern Medical School, Dallas 75235
    Neuron 14:497-507. 1995
    ..Characterization of many independent bovine neurexin I alpha cDNAs suggests that different splice sites are used independently...
  10. ncbi Neuroligin 1: a splice site-specific ligand for beta-neurexins
    K Ichtchenko
    Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas 75235, USA
    Cell 81:435-43. 1995
    ..These findings support a model whereby alternative splicing of neurexins creates a family of cell surface receptors that confers interactive specificity onto their resident neurons...
  11. ncbi Structures, alternative splicing, and neurexin binding of multiple neuroligins
    K Ichtchenko
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235, USA
    J Biol Chem 271:2676-82. 1996
    ..Thus, neuroligins constitute a multigene family of brain-specific proteins with distinct isoforms that may have overlapping functions in mediating recognition processes between neurons...
  12. ncbi Neurexins: three genes and 1001 products
    M Missler
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Trends Genet 14:20-6. 1998
    ..This review describes the properties of the neurexin protein family and their potential roles in neuronal cell adhesion and intercellular signaling...
  13. ncbi Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit
    M Missler
    Howard Hughes Medical Institute, University of Texas Southwestern Medical School, Dallas, Texas 75235, USA
    J Biol Chem 273:34716-23. 1998
    ..The results support the notion that neurexophilins represent a family of extracellular signaling molecules that interact with multiple receptors including all three alpha-neurexins...
  14. ncbi Mints as adaptors. Direct binding to neurexins and recruitment of munc18
    T Biederer
    Center for Basic Neuroscience, Department of Molecular Genetics, and Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 275:39803-6. 2000
    ..Our data support a model whereby one of the functions of Mints is to localize the vesicle fusion protein Munc18 to those sites at the plasma membrane that are defined by neurexins, presumably in the vicinity of points of exocytosis...
  15. ncbi Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity
    Lee Rowen
    Institute for Systems Biology, 1441 North 34th Street, Seattle, Washington 98103, USA
    Genomics 79:587-97. 2002
    ..genes is regulated, we have determined the complete nucleotide sequence of all three human neurexin genes: NRXN1, NRXN2, and NRXN3. Unexpectedly, two of these, NRXN1 ( approximately 1.1 Mb) and NRXN3 ( approximately 1...
  16. ncbi Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing
    Katsuhiko Tabuchi
    Center for Basic Neuroscience, Department of Molecular Genetics, and Howard Hughes Medical Institute, The University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA
    Genomics 79:849-59. 2002
    ..Consistent with their proposed role in synapse specification, neurexins thus have evolved from relatively simple genes in invertebrates to diversified genes in vertebrates with multiple promoters and extensive alternative splicing...
  17. ncbi Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis
    Markus Missler
    Center for Basic Neuroscience, Department of Molecular Genetics, Dallas, Texas 75390 9111, USA
    Nature 423:939-48. 2003
    ..These data suggest that alpha-neurexins organize presynaptic terminals by functionally coupling Ca2+ channels to the presynaptic machinery...
  18. pmc Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins
    Ethan R Graf
    Department of Anatomy and Neurobiology, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Cell 119:1013-26. 2004
    ....
  19. ncbi High frequency of neurexin 1beta signal peptide structural variants in patients with autism
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Neurosci Lett 409:10-3. 2006
    ..In addition, no structural variant was found in the neurexin 2beta gene and the neurexin 3beta gene. In the context of all available data, we conclude that mutations of the neurexin 1beta gene may contribute to autism susceptibility...
  20. pmc Novel genes identified in a high-density genome wide association study for nicotine dependence
    Laura Jean Bierut
    Department of Psychiatry, Washington University School of Medicine, 660 South Euclid, Box 8134, St Louis, MO 63110, USA
    Hum Mol Genet 16:24-35. 2007
    ..Our study nominates several novel genes, such as Neurexin 1 (NRXN1), in the development of nicotine dependence while also identifying a known candidate gene, the beta3 ..
  21. ncbi Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
    George Kirov
    Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 17:458-65. 2008
    ..The first one is a deletion at 2p16.3 that was present in an affected sibling and disrupts NRXN1. The second one is a de novo duplication at 15q13.1 spanning APBA2...
  22. ncbi A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha
    F R Zahir
    J Med Genet 45:239-43. 2008
    ..3. The patient's deletion is approximately 320 kb in size and includes only the part of the NRXN1 gene that codes for the neurexin1alpha promoter and initial coding exons...
  23. pmc Structural basis for synaptic adhesion mediated by neuroligin-neurexin interactions
    Xiaoyan Chen
    Northwestern University Feinberg School of Medicine, Department of Molecular Pharmacology and Biological Chemistry, Searle 8 417, 303 East Chicago Avenue, Chicago, Illinois 60611, USA
    Nat Struct Mol Biol 15:50-6. 2008
    ..Mapping neuroligin mutations implicated in autism indicated that most such mutations are structurally destabilizing, supporting deficient neuroligin biosynthesis and processing as a common cause for this brain disorder...
  24. ncbi Structures of neuroligin-1 and the neuroligin-1/neurexin-1 beta complex reveal specific protein-protein and protein-Ca2+ interactions
    Demet Arac
    Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA
    Neuron 56:992-1003. 2007
    ..Our results provide molecular insights for understanding the role of cell-adhesion proteins in synapse function...
  25. pmc Disruption of neurexin 1 associated with autism spectrum disorder
    Hyung Goo Kim
    Molecular Neurogenetics Unit, Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Am J Hum Genet 82:199-207. 2008
    ..We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a ..
  26. pmc Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers
    Justin Nussbaum
    Department of Psychiatry and Neurobehavioral Sciences, University of Virginia, Charlottesville, VA, USA
    Hum Mol Genet 17:1569-77. 2008
    The neurexin-1 gene (NRXN1) has been shown to play a fundamental role in synaptogenesis and synaptic maintenance, as well as Ca(2+) channel and NMDA receptor recruitment...
  27. pmc Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components
    Carsten Reissner
    Institute of Anatomy and Molecular Neurobiology, Westfalische Wilhelms University, Vesaliusweg 2, 48149 Munster, Germany
    Proc Natl Acad Sci U S A 105:15124-9. 2008
    ....
  28. pmc Neuroligins and neurexins link synaptic function to cognitive disease
    Thomas C Sudhof
    Neuroscience Institute, Department of Molecular and Cellular Physiology, Stanford University, 1050 Arastradero Road B249, Palo Alto, California 94304, USA
    Nature 455:903-11. 2008
    ..In humans, alterations in genes encoding neurexins or neuroligins have recently been implicated in autism and other cognitive diseases, linking synaptic cell adhesion to cognition and its disorders...
  29. pmc Recurrent CNVs disrupt three candidate genes in schizophrenia patients
    Terry Vrijenhoek
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 83:504-10. 2008
    ..Among the genes disrupted by the remaining rare CNVs are MYT1L, CTNND2, NRXN1, and ASTN2, genes that play an important role in neuronal functioning but--except for NRXN1--have not been ..
  30. pmc Disruption of the neurexin 1 gene is associated with schizophrenia
    Dan Rujescu
    Division of Molecular and Clinical Neurobiology, Department of Psychiatry, Ludwig Maximilians University, Munich, Germany
    Hum Mol Genet 18:988-96. 2009
    Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia...
  31. pmc A genome-wide investigation of SNPs and CNVs in schizophrenia
    Anna C Need
    Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina, USA
    PLoS Genet 5:e1000373. 2009
    ..provide further evidence for some smaller, previously reported, schizophrenia-associated CNVs, such as those in NRXN1 and APBA2...
  32. pmc Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
    Maja Bucan
    Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America
    PLoS Genet 5:e1000536. 2009
    ..Rare variants at known loci, including exonic deletions at NRXN1 and whole gene duplications encompassing UBE3A and several other genes in the 15q11-q13 region, were observed in ..
  33. doi Association of a polymorphism in the NRXN3 gene with the degree of smoking in schizophrenia: a preliminary study
    Gabriela Novak
    Translational Addiction Research Laboratory, Centre for Addiction and Mental Health and the University of Toronto, Toronto, Ontario, Canada
    World J Biol Psychiatry 10:929-35. 2009
    Whole genome scan studies have recently identified the NRXN1 and NRXN3 genes as potential contributing factors in the risk for nicotine addiction...
  34. pmc Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
    Mark R Etherton
    Department of Molecular and Cellular Physiology, Stanford University, 1050 Arastradero Road, CA 94304, USA
    Proc Natl Acad Sci U S A 106:17998-8003. 2009
    ..Together, these data indicate that the neurexin-1alpha deficiency induces a discrete neural phenotype whose extent correlates, at least in part, with impairments observed in human patients...
  35. pmc CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
    Am J Hum Genet 85:655-66. 2009
    Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental ..
  36. doi Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
    C O'Dushlaine
    Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
    Mol Psychiatry 16:286-92. 2011
    ..01). At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia...
  37. doi Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay
    Barbara Wisniowiecka-Kowalnik
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet B Neuropsychiatr Genet 153:983-93. 2010
    b>NRXN1 is highly expressed in brain and has been shown recently to be associated with ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol and nicotine dependence...
  38. pmc Rare NRXN1 promoter variants in patients with schizophrenia
    Abhishek K Shah
    Department of Psychiatry and Behavioral Sciences, Division of Basic Research, Albert Einstein College of Medicine, 1300 Morris Park Ave, Bronx, New York 10461, United States
    Neurosci Lett 475:80-4. 2010
    Copy number variants (CNVs) affecting the neurexin 1 (NRXN1) gene have been found in a subgroup of patients with schizophrenia (SZ)...
  39. pmc A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality
    Karin J H Verweij
    Genetic Epidemiology, Molecular Epidemiology, and Queensland Statistical Genetics Laboratories, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Biol Psychol 85:306-17. 2010
    ....
  40. pmc New copy number variations in schizophrenia
    Chiara Magri
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Brescia University School of Medicine, Brescia, Italy
    PLoS ONE 5:e13422. 2010
    ..with a CNV occurring in one of the regions most convincingly implicated as risk factors for schizophrenia: NRXN1 and the 16p13.1 regions were found to be deleted in single patients and 15q11.2 in 2 patients, whereas the 15q13...
  41. pmc Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
    Julie Gauthier
    Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l Universite de Montreal, Montreal, Canada
    Hum Genet 130:563-73. 2011
    ..Copy number variations and deleterious mutations in synaptic organizing proteins including NRXN1 have been associated with these neurodevelopmental disorders, but no such associations have been reported for ..
  42. doi Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters
    Victoria Harrison
    Department of Clinical Genetics, Churchill Hospital, Oxford, UK
    Am J Med Genet A 155:2826-31. 2011
    b>Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It forms a trans-synaptic complex in the central nervous system with neuroligin...
  43. ncbi CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins
    Y Hata
    Department of Molecular Genetics, The University of Texa Southwestern Medical Center at Dallas, 75235, USA
    J Neurosci 16:2488-94. 1996
    ..The cytoplasmic domains of all three neurexins bind CASK in a salt-labile interaction. In neurexin I, this interaction is dependent on the C-terminal three residues...
  44. ncbi Synaptotagmin-like protein 1-3: a novel family of C-terminal-type tandem C2 proteins
    M Fukuda
    Laboratory for Developmental Neurobiology, Brain Science Institute, RIKEN, 2 1 Hirosawa, Wako, Saitama, 351 0198, Japan
    Biochem Biophys Res Commun 281:1226-33. 2001
    ..In addition, Slp family proteins are differentially distributed in different mouse tissues and at different developmental stages...
  45. ncbi Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta
    Davide Comoletti
    Department of Pharmacology, University of California, La Jolla, California 92093 0636, USA
    J Biol Chem 278:50497-505. 2003
    ..We show here that glycosylation processing of neuroligin, in addition to mRNA splicing and gene selection, contributes to the specificity of the neurexin-beta/neuroligin-1 association...
  46. doi Neurexin 1alpha structural variants associated with autism
    Jin Yan
    Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Neurosci Lett 438:368-70. 2008
    ..1/192; P=0.03, Fisher's exact test, one-sided). In the context of all available data, the ultra-rare structural variants of the neurexin 1alpha gene are consistent with mutations predisposing to autism...
  47. pmc Latrophilin is required for toxicity of black widow spider venom in Caenorhabditis elegans
    Christopher J Mee
    School of Biology, University of Nottingham, University Park, Nottingham NG7 2RD, UK
    Biochem J 378:185-91. 2004
    ..RNAi (RNA interference) of this gene rendered C. elegans resistant to BWSV, whereas RNAi for CYP37A1 or a neurexin I homologue, and a deletion mutant of the related B0286.2 gene, had no effect on BWSV toxicity...
  48. pmc Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    Joseph T Glessner
    Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 459:569-73. 2009
    ..Besides previously reported ASD candidate genes, such as NRXN1 (ref...
  49. pmc Functional redundancy of acetylcholinesterase and neuroligin in mammalian neuritogenesis
    M Grifman
    Department of Biological Chemistry, Institute of Life Sciences, Hebrew University of Jerusalem, 91904, Jerusalem, Israel
    Proc Natl Acad Sci U S A 95:13935-40. 1998
    ..Moreover, overexpression of the homologous neurexin I ligand, neuroligin-1, restored both neurite extension and expression of neurexin Ialpha...
  50. pmc Structural variation of chromosomes in autism spectrum disorder
    Christian R Marshall
    The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
    Am J Hum Genet 82:477-88. 2008
    ..Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, ..
  51. ncbi A Drosophila homolog of cadherin associated with armadillo and essential for embryonic cell-cell adhesion
    H Oda
    Department of Biophysics, Faculty of Science, Kyoto University, Japan
    Dev Biol 165:716-26. 1994
    ..vertebrate counterparts by a large insertion with local sequence similarity to Fat, laminin A chain, Slit, and neurexin I at the proximal region of the extracellular domain...
  52. ncbi Genetics of autism spectrum disorders
    Ravinesh A Kumar
    Department of Human Genetics, University of Chicago, 920 East 58th Street, MC0077, Chicago, IL 60637, USA
    Curr Neurol Neurosci Rep 9:188-97. 2009
    ..Association studies and mutation analysis of candidate genes have implicated the synaptic genes NRXN1, NLGN3, NLGN4, SHANK3, and CNTNAP2 in ASDs...
  53. pmc TCF4, schizophrenia, and Pitt-Hopkins Syndrome
    Derek J Blake
    Department of Psychological Medicine and Neurology, Medical Research Council Center for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
    Schizophr Bull 36:443-7. 2010
    ..Recessive forms of Pitt-Hopkins syndrome are caused by mutations in NRXN1 and CNTNAP2...
  54. pmc Differential expression of presynaptic genes in a rat model of postnatal hypoxia: relevance to schizophrenia
    J U Sommer
    Department of Psychopharmacology, Central Institute of Mental Health, J5, 68159 Mannheim, Germany
    Eur Arch Psychiatry Clin Neurosci 260:S81-9. 2010
    ..Because of their primary presynaptic occurrence, five differentially expressed genes (CPX1, NPY, NRXN1, SNAP-25, and STX1A) have been selected for comparisons with clozapine-treated animals by qRT-PCR...
  55. ncbi Neurexins are differentially expressed in the embryonic nervous system of mice
    A W Puschel
    Abteilung Neurochemie, Max Planck Institut für Hirnforschung, Frankfurt Main, Germany
    J Neurosci 15:2849-56. 1995
    ..Neurexin III mRNA showed a more restricted regional expression than neurexin I and II transcripts...
  56. pmc Axon growth and guidance genes identify nascent, immature, and mature olfactory sensory neurons
    Jeremy C McIntyre
    Department of Physiology, University of Kentucky, Lexington, Kentucky 40536 0298, USA
    J Neurosci Res 88:3243-56. 2010
    ..Cell adhesion molecules were expressed either by both immature and mature OSNs (Dscam, Ncam1, Ncam2, Nrxn1) or solely by immature OSNs (Chl1, Nfasc1, Dscaml1)...
  57. doi Schizophrenia genetics: advancing on two fronts
    Michael J Owen
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Curr Opin Genet Dev 19:266-70. 2009
    ..There is evidence both for an increased burden of CNVs in schizophrenia and that risk is conferred by specific large deletions at 1q21.1 and at 15q13.2 and by deletions of NRXN1 which encodes the synaptic scaffolding protein neurexin 1.
  58. pmc Neurexin III alpha: extensive alternative splicing generates membrane-bound and soluble forms
    Y A Ushkaryov
    Howard Hughes Medical Institute, University of Texas Southwestern Medical School, Dallas 75235
    Proc Natl Acad Sci U S A 90:6410-4. 1993
    ..Alternative splicing was previously observed at the same positions in either neurexin I alpha or neurexin II alpha or both, suggesting that the three neurexins are subject to extensive alternative ..
  59. ncbi Binding properties of neuroligin 1 and neurexin 1beta reveal function as heterophilic cell adhesion molecules
    T Nguyen
    Department of Molecular Genetics and Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas 75235, USA
    J Biol Chem 272:26032-9. 1997
    ....
  60. ncbi The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity
    M Koroll
    Max Delbruck Centrum fur Molekulare Medizin, Robert Rossle Strasse 10, Berlin D 13092, Germany
    J Biol Chem 276:10646-54. 2001
    ..Despite their high sequence similarity to syntenin-1, syntenin-2alpha, which interacts with neurexin I, and syntenin-2beta do not bind to neurofascin or several other transmembrane proteins that are binding partners ..
  61. doi A synaptic trek to autism
    Thomas Bourgeron
    Human Genetics and Cognitive Functions, Institut Pasteur, 25 rue du Docteur Roux, 75015 Paris, France
    Curr Opin Neurobiol 19:231-4. 2009
    ..Mutations in NLGN3/4, SHANK3, or NRXN1 alter synaptic function and lead to mental retardation, typical autism, or Asperger syndrome...
  62. pmc Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
    Douglas F Levinson
    Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA 94304 5797, USA
    Am J Psychiatry 168:302-16. 2011
    ....
  63. doi Neuroligin-1 induces neurite outgrowth through interaction with neurexin-1β and activation of fibroblast growth factor receptor-1
    Michelle D Gjørlund
    Protein Laboratory, Department of Neuroscience and Pharmacology, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3b, Building 24 2, DK 2200 Copenhagen, Denmark
    FASEB J 26:4174-86. 2012
    Neurexin-1 (NRXN1) and neuroligin-1 (NLGN1) are synaptic cell adhesion molecules that connect pre- and postsynaptic neurons at synapses and mediate signaling across the synapse, which modulates synaptic activity and determines the ..
  64. pmc Recurrent targeted genes of hepatitis B virus in the liver cancer genomes identified by a next-generation sequencing-based approach
    Dong Ding
    Hangzhou Proprium Biotech, Hangzhou, China
    PLoS Genet 8:e1003065. 2012
    ..LRFN2, FN1) containing IPR003961 (Fibronectin, type III domain), 7 genes (NRG3, MASP2, NELL1, LRP1B, ADAM21, NRXN1, FN1) containing IPR013032 (EGF-like region, conserved site), and three genes (PDE7A, PDE4B, PDE11A) containing ..
  65. doi Genetic study of neurexin and neuroligin genes in Alzheimer's disease
    Amalia Martinez-Mir
    Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Spain
    J Alzheimers Dis 35:403-12. 2013
    ..we carried out a meta-analysis of five genome-wide association studies (GWAS) comprising 1, 256 SNPs in the NRXN1, NRXN2, NRXN3, and NLGN1 genes (3,009 cases and 3,006 control individuals)...
  66. pmc CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1
    Abhishek Nag
    UCL Genetics Institute, Department of Genetics, Evolution and Environment, University College London, London, United Kingdom
    PLoS ONE 8:e59061. 2013
    ..We also found two cases with ∼400 kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS...
  67. pmc Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
    Qing Li
    National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA
    Hum Genet 134:131-46. 2015
    ..In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8)...
  68. doi TGF-β1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung disease
    Xiao Shangjie
    Southern Medical University, Guangzhou, 510515, Guangdong, China
    Cell Biochem Biophys 71:1249-54. 2015
    ..in children. It has a high value for predicting prognosis of children patients with Hirschsprung disease after surgical intervention...
  69. pmc Age-related expression of Neurexin1 and Neuroligin3 is correlated with presynaptic density in the cerebral cortex and hippocampus of male mice
    Dhiraj Kumar
    Biochemistry and Molecular Biology Laboratory, Brain Research Centre, Department of Zoology, Banaras Hindu University, Varanasi, 221005, India
    Age (Dordr) 37:17. 2015
    Neurexin1 (Nrxn1) and Neuroligin3 (Nlgn3) are cell adhesion proteins, which play an important role in synaptic plasticity that declines with advancing age. However, the expression of these proteins during aging has not been analyzed...
  70. doi Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders
    Steven E Hyman
    Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA Electronic address
    Cell Stem Cell 17:253-4. 2015
    ..2015) combine gene targeting and stem cell technologies to identify a significant cellular effect of rare penetrant NRXN1 mutations in human neurons, which was found to cause a defect in neurotransmitter release.
  71. doi Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1
    Mathew Wallis
    Genetic Health Queensland, Royal Brisbane and Women s Hospital, Brisbane, Queensland, Australia
    Am J Med Genet A 170:717-24. 2016
    ..5 Mb deletion at 2p16.3, including the first four exons of the NRXN1 gene. Whole exome sequencing and subsequent Sanger sequencing identified a de novo missense mutation (c...
  72. doi One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins
    Patrik K E Magnusson
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
    Twin Res Hum Genet 19:97-103. 2016
    ..selected for validation by quantitative polymerase chain reaction (qPCR), from which one single ~120kb deletion in NRXN1 on chromosome 2 (bp 51017111-51136802) was validated...
  73. pmc Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
    Chelsea Lowther
    Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada
    Genet Med . 2016
    The purpose of the current study was to assess the penetrance of NRXN1 deletions.
  74. pmc Exonal elements and factors involved in the depolarization-induced alternative splicing of neurexin 2
    G Rozic
    Department of Neurobiology, The George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel
    J Mol Neurosci 50:221-33. 2013
    The neurexin genes (NRXN1, NRXN2, and NRXN3) encode polymorphic presynaptic proteins that are implicated in synaptic plasticity and memory processing...
  75. pmc Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms
    Weichen Zhou
    State Key Laboratory of Genetic Engineering and Ministry of Education, Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China
    Hum Mol Genet 22:2642-51. 2013
    ..of short low-copy repeats (LCRs) in the human genome, can induce autism-associated SV mutations of the MECP2 and NRXN1 genes...
  76. pmc The tissue-specific RNA binding protein T-STAR controls regional splicing patterns of neurexin pre-mRNAs in the brain
    Ingrid Ehrmann
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS Genet 9:e1003474. 2013
    ..In the absence of endogenous T-STAR protein, Nrxn1-3 AS4 splicing repression dramatically decreased, despite physiological co-expression of Sam68...
  77. doi Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses
    Rafael J Camacho-Garcia
    aSeville Biomedical Research Institute IBiS, Virgen del Rocio University Hospital, CSIC bDepartment of Medical Physiology and Biophysics, University of Seville, Seville cChild and Adolescent Mental Health Unit, Mutua de Terrassa University Hospital, Terrassa dDepartment of Genetics, Faculty of Biology, University of Barcelona eBiomedical Network Research Centre on Rare Diseases CIBERER fInstitute of Biomedicine IBUB, University of Barcelona, Barcelona, Spain
    Psychiatr Genet 23:262-6. 2013
    Neurexins are synaptic plasma membrane proteins encoded by three genes (NRXN1, -2, -3) with alternative promoters. Mutations in neurexin genes have been identified in different neurodevelopmental disorders, including autism...
  78. pmc Analysis of copy number variation in Alzheimer's disease: the NIALOAD/ NCRAD Family Study
    Shanker Swaminathan
    Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine, Indianapolis, IN, USA
    Curr Alzheimer Res 9:801-14. 2012
    ..analyses confirmed previous findings in the ADNI study (ATXN1, HLA-DPB1, RELN, DOPEY2, GSTT1, CHRFAM7A, ERBB4, NRXN1) and identified a new gene (IMMP2L) that may play a role in AD susceptibility...
  79. pmc Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 20:1240-7. 2012
    Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum ..
  80. doi Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome
    Marc Forrest
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Mutat 33:1676-86. 2012
    ..Autosomal dominant PTHS is caused by mutations in the transcription factor 4 (TCF4) gene, whereas NRXN1 and CNTNAP2 mutations are associated with autosomal recessive PTHS...
  81. pmc Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, Greenwood, SC, USA
    Eur J Hum Genet 21:310-6. 2013
    ..associated with ASDs are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3...
  82. doi Expression of neurexin and neuroligin in the enteric nervous system and their down-regulated expression levels in Hirschsprung disease
    Qiangye Zhang
    Department of Pediatric Surgery, Qilu Hospital, Shandong University, 107 Wenhuaxi Road, Jinan 250012, Shandong, China
    Mol Biol Rep 40:2969-75. 2013
    ..Double labeling of neurexin I and Hu (a neuron marker), neuroligin 1 and Hu, neurexin I and synaptophysin (a presynaptic marker), and ..
  83. doi Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
    Rikke S Møller
    Danish Epilepsy Center, Dianalund, Denmark
    Epilepsia 54:256-64. 2013
    ..Recently, deletions and point mutations of the neurexin 1 (NRXN1) gene have been associated with a broad spectrum of neuropsychiatric disorders...
  84. doi Investigation of NRXN1 deletions: clinical and molecular characterization
    Mindy Preston Dabell
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Am J Med Genet A 161:717-31. 2013
    Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features...
  85. pmc Allele-biased expression in differentiating human neurons: implications for neuropsychiatric disorders
    Mingyan Lin
    Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America
    PLoS ONE 7:e44017. 2012
    ..These included a number of putative SZ and ASD candidates, such as A2BP1 (RBFOX1), ERBB4, NLGN4X, NRG1, NRG3, NRXN1, and NLGN1...
  86. ncbi Solution structure of AF-6 PDZ domain and its interaction with the C-terminal peptides from Neurexin and Bcr
    Heyue Zhou
    Hefei National Laboratory for Physical Sciences at Microscale, School of Life Science, University of Science and Technology of China, Hefei, Anhui 230026, People s Republic of China
    J Biol Chem 280:13841-7. 2005
    ..Unlike the canonical class II PDZ domain, Ala74 at alphaB5 rather than the residue at alphaB1 makes direct hydrophobic contact with the side chain of Tyr at the -2 position of the ligand...
  87. pmc High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy
    Larissa R Stewart
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 USA
    BMC Med Genet 12:154. 2011
    ..Chromosomal deletions of 1q21.1, 3q29, 15q13.3, 22q11.2, and NRXN1 and duplications of 15q11-q13 (maternal), 16p11, and 16p13.3 have the strongest association with schizophrenia...
  88. doi Mutation analysis of the NRXN1 gene in a Chinese autism cohort
    Yalan Liu
    School of Biological Science and Technology, Central South University, Changsha, Hunan, China
    J Psychiatr Res 46:630-4. 2012
    ..The neurexin-1(NRXN1) gene mapped on chromosome 2p16...
  89. pmc Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes
    K Mozhui
    Department of Anatomy and Neurobiology, Center for Integrative and Translational Genomics, University of Tennessee Health Science Center, Memphis, TN 38163, USA
    Transl Psychiatry 1:e25. 2011
    b>Neurexin 1 (NRXN1) is a large presynaptic transmembrane protein that has complex and variable patterns of expression in the brain. Sequence variants in NRXN1 are associated with differences in cognition, and with schizophrenia and autism...
  90. ncbi Structure and evolution of neurexophilin
    A G Petrenko
    Howard Hughes Medical Institute, University of Texas Southwestern Medical School, Dallas, Texas 75235, USA
    J Neurosci 16:4360-9. 1996
    ..Together our data suggest that neurexophilin constitutes a secreted glycoprotein that is synthesized in a subclass of neurons and may be a ligand for neurexins...
  91. ncbi Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulin
    M S Perin
    Division of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    Biochemistry 35:13808-16. 1996
    ..These data suggest that multiple synaptotagmins may interact with neurexins to mediate docking or regulation of neurotransmitter release and that synaptotagmins may be calcium-regulated via interaction with calmodulin...
  92. ncbi alpha-Latrotoxin stimulates exocytosis by the interaction with a neuronal G-protein-coupled receptor
    V G Krasnoperov
    Department of Environmental Medicine, New York University Medical Center, New York 10016, USA
    Neuron 18:925-37. 1997
    ..Its action requires extracellular binding to high affinity presynaptic receptors. Neurexin I alpha was previously described as a high affinity alpha-latrotoxin receptor that binds the toxin only in the ..
  93. ncbi Neurexin I alpha is a major alpha-latrotoxin receptor that cooperates in alpha-latrotoxin action
    M Geppert
    Max Planck Institut fur experimentelle Medizin, Gottingen, Germany
    J Biol Chem 273:1705-10. 1998
    ..description of two distinct cell surface proteins that bind alpha-latrotoxin with nanomolar affinities; Neurexin I alpha binds alpha-latrotoxin in a Ca(2+)-dependent manner, and CIRL/latrophilin binds in a Ca(2+)-independent ..
  94. pmc PDZ-domain-mediated interaction of the Eph-related receptor tyrosine kinase EphB3 and the ras-binding protein AF6 depends on the kinase activity of the receptor
    B Hock
    Chemotherapeutisches Forschungsinstitut, Georg Speyer Haus, Paul Ehrlich Strasse 42 44, 60596 Frankfurt, Germany
    Proc Natl Acad Sci U S A 95:9779-84. 1998
    ....
  95. pmc Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII)
    M Fukuda
    Laboratory for Developmental Neurobiology, Brain Science Institute, RIKEN, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
    Biochem J 354:249-57. 2001
    ..Since Syt XIII is expressed in various tissues outside the brain, Syt XIII may be involved in constitutive vesicle transport...
  96. ncbi [alpha-Latrotoxin as an instrument for studying neurosecretions]
    N H Himmel'reĭkh
    Palladin Institute of Biochemistry, NAS of Ukraine, Kyiv
    Ukr Biokhim Zh (1999) 72:26-34. 2000
    ..Calcium-dependent receptor of alpha-latrotoxin is identified as neurexin I alpha and belongs to the family of neurexins. This family is selectively expressed in nerve tissue...
  97. ncbi Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism
    Alexander A Chubykin
    Center for Basic Neuroscience, Department of Molecular Genetics, and Howard Hughes Medical Institute, The University of Texas Southwestern Medical Center at Dallas, 6000 Harry Hines Boulevard, Dallas, TX 75390 9111, USA
    J Biol Chem 280:22365-74. 2005
    ....
  98. pmc A genome-wide scanning and fine mapping study of COGA data
    Hsin Chou Yang
    Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
    BMC Genet 6:S30. 2005
    ..The final model identified important AD-related haplotypes within a candidate region of NRXN1 at 2p21 and a few others in the inter-gene regions...
  99. ncbi Ca2+ -dependent splicing of neurexin IIalpha
    G Rozic-Kotliroff
    Department of Neurobiochemistry, The George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel
    Biochem Biophys Res Commun 352:226-30. 2007
    Neurexins are synaptic adhesion proteins encoded by 3 genes (NRXN1, NRXN2, and NRXN3) each transcribed from 2 promoters to yield longer (alpha) and shorter (beta) forms...
  100. ncbi The possible interplay of synaptic and clock genes in autism spectrum disorders
    T Bourgeron
    Department of Neuroscience, Institut Pasteur, Paris, France
    Cold Spring Harb Symp Quant Biol 72:645-54. 2007
    ..associated with susceptibility to ASD, which includes the synaptic cell adhesion molecules NLGN3, NLGN4, and NRXN1 and a postsynaptic scaffolding protein SHANK3...

Research Grants15

  1. RNA-Seq studies of Gene Expression in Cells and Networks in FI and ACC in Autism
    Barbara J Wold; Fiscal Year: 2010
    ..group, which is characterized by increased expression of genes in the presynaptic terminal including NRXN1 (neurexin 1), which provides Velcro-like binding to neuroligins in the post-synaptic membrane...
  2. Herbert M Lachman; Fiscal Year: 2016
    ..enrichment for SZ and ASD candidate genes was found, which included A2BP1 (RBFOX1), ERBB4, NLGN4X, NRG1, NRG3, NRXN1, and NLGN1...
  3. TrkB Agonist(s), a Potential Therapy for Autism Spectrum Disorders
    Yi Eve Sun; Fiscal Year: 2010
    ..Mutations of genes such as neurexin 1 (NRXN1), neuroligin3 and 4 (NLGN3/4), SHANK3, PTEN have been associated with autism...
  4. LULU YIJU CHEN; Fiscal Year: 2015
    ..The proposed studies will test the following hypotheses: whether the complete knockout of neurexins (Nrxn1/2/3 ?/?) will 1) decrease the frequency, but not amplitude, of spontaneous miniature synaptic potentials, and lead ..
  5. Identification of Candidate Genes at the Synapse in Autism Spectrum Disorders
    ABHA RANI GUPTA; Fiscal Year: 2013
    ..It is an intriguing finding given that a number of candidate genes for ASD, such as the NLGNs, NRXN1, and SHANK3, are converging at the neural synapse, indicating that the synapse is a site of damage...
  6. Changhui Pak; Fiscal Year: 2015
    ..human neurons induced from human embryonic stem cells (ESCs) that are conditionally knock out for neurexin-1 (Nrxn1), a gene that is frequently mutated in patients with ASDs...
  7. SYNUCLEIN FUNCTIONS: ROLE IN PARKINSON'S DISEASE
    THOMAS SUDHOF; Fiscal Year: 2003
    ..We anticipate that these experiments will establish a molecular understanding of synuclein functions in the brain and provide insight into the role of an alpha synuclein in Parkinson's disease. ..
  8. APP, Alzheimer's Disease, and Synaptic Function
    THOMAS SUDHOF; Fiscal Year: 2008
    ..Together these studies will contribute to our understanding of APP function and Abeta toxicity in AD, and may suggest new avenues for interfering with the pathogenesis of AD. ..
  9. A systematic test of the relation of ASD heterogeneity to synaptic function
    THOMAS C contact SUDHOF; Fiscal Year: 2010
    ..This project will address these issues by studying the changes in neuron-to-neuron communication caused by the genes associated with autism. ..
  10. Neural Mechanisms of Chemotherapy-Induced Cognitive Disorder
    Andrew Saykin; Fiscal Year: 2007
    ..abstract_text> ..
  11. Multicenter Genetics Studies of Schizophrenia
    Douglas Levinson; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  12. GENETIC LINKAGE OF SCHIZOPHRENIA AND RELATED STUDIES
    Douglas Levinson; Fiscal Year: 2005
    ..abstract_text> ..
  13. MOLECULAR GENETICS OF SCHIZOPHRENIA
    Douglas Levinson; Fiscal Year: 2007
    ..The goal of the study is to identify one or more SZ susceptibility genes whose subsequent characterization inmolecular and functional studies will elucidate the pathophysiology and treatment of SZ. ..
  14. Genomic Imbalances in Autism
    Susan Christian; Fiscal Year: 2008
    ..These data will be valuable in both identifying polymorphic variants in normal human control samples and also identifying chromosomal dosage imbalances that are associated with autism. ..
  15. Genetics of Early-Onset Depression
    Douglas Levinson; Fiscal Year: 2008
    ..abstract_text> ..