Genomes and Genes
Gene Symbol: NRXN1
Description: neurexin 1
Alias: Hs.22998, PTHSL2, SCZD17, neurexin I, neurexin-1-beta
Publications103 found, 100 shown here
- Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and lamininY 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...
- Copy number variation in schizophrenia in the Japanese populationMasashi 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. 2010Copy 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).
- Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael 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. 2010Research has implicated mutations in the gene for neurexin-1 (NRXN1) in a variety of conditions including autism, schizophrenia, and nicotine dependence...
- New copy number variations in schizophreniaChiara 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...
- Disruption of neurexin 1 associated with autism spectrum disorderHyung 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 balanced ..
- A genome-wide investigation of SNPs and CNVs in schizophreniaAnna 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...
- Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genesMaja 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 ..
- Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delayBarbara 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. 2010b>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...
- Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairmentsMark 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...
- Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disordersAristotle N Voineskos
Centre for Addiction and Mental Health, University of Toronto, Toronto, Canada
PLoS ONE 6:e20982. 2011Structural variation in the neurexin-1 (NRXN1) gene increases risk for both autism spectrum disorders (ASD) and schizophrenia...
- A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personalityKarin 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....
- Neurexin-1α contributes to insulin-containing secretory granule dockingMerrie 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...
- Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unitM 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...
- Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibilityC 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...
- Structure and evolution of neurexin genes: insight into the mechanism of alternative splicingKatsuhiko 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...
- Rare NRXN1 promoter variants in patients with schizophreniaAbhishek 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. 2010Copy number variants (CNVs) affecting the neurexin 1 (NRXN1) gene have been found in a subgroup of patients with schizophrenia (SZ)...
- Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patientsThomas 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. 2011Large rare deletions in NRXN1 increase the risk for schizophrenia...
- Mutations affecting synaptic levels of neurexin-1β in autism and mental retardationRafael 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 ..
- The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine responseTristram A P Lett
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
Schizophr Res 132:121-4. 2011Neurexin-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...
- Novel genes identified in a high-density genome wide association study for nicotine dependenceLaura 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 nicotinic ..
- Analysis of the human neurexin genes: alternative splicing and the generation of protein diversityLee 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...
- Neurexins: three genes and 1001 productsM 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...
- Disruption of the neurexin 1 gene is associated with schizophreniaDan Rujescu
Division of Molecular and Clinical Neurobiology, Department of Psychiatry, Ludwig Maximilians University, Munich, Germany
Hum Mol Genet 18:988-96. 2009Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia...
- Association of a polymorphism in the NRXN3 gene with the degree of smoking in schizophrenia: a preliminary studyGabriela 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. 2009Whole genome scan studies have recently identified the NRXN1 and NRXN3 genes as potential contributing factors in the risk for nicotine addiction...
- Structures, alternative splicing, and neurexin binding of multiple neuroliginsK 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...
- The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activityM 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 ..
- Mints as adaptors. Direct binding to neurexins and recruitment of munc18T 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...
- Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokersJustin Nussbaum
Department of Psychiatry and Neurobehavioral Sciences, University of Virginia, Charlottesville, VA, USA
Hum Mol Genet 17:1569-77. 2008The 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...
- Recurrent CNVs disrupt three candidate genes in schizophrenia patientsTerry 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 ..
- A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alphaF 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...
- Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophreniaGeorge 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...
- High frequency of neurexin 1beta signal peptide structural variants in patients with autismJinong 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...
- Neurexin 1alpha structural variants associated with autismJin 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...
- Synaptotagmin-like protein 1-3: a novel family of C-terminal-type tandem C2 proteinsM 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...
- Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1betaDavide 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...
- CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexinsY 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...
- Binding properties of neuroligin 1 and neurexin 1beta reveal function as heterophilic cell adhesion moleculesT 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....
- Latrophilin is required for toxicity of black widow spider venom in Caenorhabditis elegansChristopher 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...
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genesJoseph 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...
- Functional redundancy of acetylcholinesterase and neuroligin in mammalian neuritogenesisM 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...
- Neurexin III alpha: extensive alternative splicing generates membrane-bound and soluble formsY 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 ..
- Structural variation of chromosomes in autism spectrum disorderChristian 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, ..
- A synaptic trek to autismThomas 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...
- Genetics of autism spectrum disordersRavinesh 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...
- TCF4, schizophrenia, and Pitt-Hopkins SyndromeDerek 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...
- Differential expression of presynaptic genes in a rat model of postnatal hypoxia: relevance to schizophreniaJ 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...
- A Drosophila homolog of cadherin associated with armadillo and essential for embryonic cell-cell adhesionH 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...
- Neurexins are differentially expressed in the embryonic nervous system of miceA 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...
- Axon growth and guidance genes identify nascent, immature, and mature olfactory sensory neuronsJeremy 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)...
- Schizophrenia genetics: advancing on two frontsMichael 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.
- Exonal elements and factors involved in the depolarization-induced alternative splicing of neurexin 2G 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. 2013The neurexin genes (NRXN1, NRXN2, and NRXN3) encode polymorphic presynaptic proteins that are implicated in synaptic plasticity and memory processing...
- The tissue-specific RNA binding protein T-STAR controls regional splicing patterns of neurexin pre-mRNAs in the brainIngrid 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...
- Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanismsWeichen 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...
- Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapsesRafael 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. 2013Neurexins 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...
- Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletionsChristian P Schaaf
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 20:1240-7. 2012Copy 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 ..
- Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi 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...
- Analysis of copy number variation in Alzheimer's disease: the NIALOAD/ NCRAD Family StudyShanker 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...
- Expression of neurexin and neuroligin in the enteric nervous system and their down-regulated expression levels in Hirschsprung diseaseQiangye 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 ..
- Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke 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...
- Investigation of NRXN1 deletions: clinical and molecular characterizationMindy Preston Dabell
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
Am J Med Genet A 161:717-31. 2013Deletions 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...
- Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndromeMarc 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...
- Allele-biased expression in differentiating human neurons: implications for neuropsychiatric disordersMingyan 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...
- Mutation analysis of the NRXN1 gene in a Chinese autism cohortYalan 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...
- Solution structure of AF-6 PDZ domain and its interaction with the C-terminal peptides from Neurexin and BcrHeyue 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...
- High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsyLarissa 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...
- CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in DrosophilaChristiane Zweier
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
Am J Hum Genet 85:655-66. 2009Heterozygous 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 ..
- Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genesK 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. 2011Neurexin 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...
- Development of patient-specific neurons in schizophrenia using induced pluripotent stem cellsErika Pedrosa
Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Bronx, New York 10416, USA
J Neurogenet 25:88-103. 2011..proteins and synaptic proteins relevant to SZ pathogenesis, including ZNF804A, RELN, CNTNAP2, CTNNA2, SMARCA2, and NRXN1. Although a small number of lines were developed in this preliminary study, the SZ line containing 22q11...
- Neurexin I alpha is a major alpha-latrotoxin receptor that cooperates in alpha-latrotoxin actionM 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 ..
- Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sistersVictoria Harrison
Department of Clinical Genetics, Churchill Hospital, Oxford, UK
Am J Med Genet A 155:2826-31. 2011Neurexin 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...
- Rare deletions at the neurexin 3 locus in autism spectrum disorderAndrea K Vaags
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 90:133-41. 2012The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function...
- Detection and characterization of copy number variation in autism spectrum disorderChristian R Marshall
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada
Methods Mol Biol 838:115-35. 2012..2, SHANK2, NRXN1, and PTCHD1...
- alpha-Latrotoxin stimulates exocytosis by the interaction with a neuronal G-protein-coupled receptorV 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 ..
- Neurexophilin 1 suppresses the proliferation of hematopoietic progenitor cellsJohn Kinzfogl
Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis, IN 46202 5181, USA
Blood 118:565-75. 2011b>Neurexin I α (NRXN1α) and Dystroglycan (DAG1) are membrane receptors which serve as mutual ligands in the neuronal system. Neurexophilins (NXPHs) bind NRXN1α...
- Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neuronsB 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...
- Structure and evolution of neurexophilinA 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...
- Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulinM 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...
- A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTABAnna C Need
Center for Human Genome Variation, Institute for Genome Sciences and Policy, Duke University, 450 Research Drive, Box 91009, Durham, NC 27708, USA
Hum Mol Genet 18:4650-61. 2009..Only NRXN1 showed evidence of significant association with cognition...
- 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 receptorB 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....
- Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI StudyShanker Swaminathan
Center for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Int J Alzheimers Dis 2011:729478. 2011..gene-based analyses revealed CNVs overlapping the candidate gene CHRFAM7A, as well as CSMD1, SLC35F2, HNRNPCL1, NRXN1, and ERBB4 regions, only in cases...
- A genome-wide scanning and fine mapping study of COGA dataHsin 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...
- Neuronal cell adhesion genes: Key players in risk for schizophrenia, bipolar disorder and other neurodevelopmental brain disorders?Aiden P Corvin
Department of Psychiatry Neuropsychiatric Genetics Laboratory, Trinity College, Dublin, Ireland
Cell Adh Migr 4:511-4. 2010..Disruption of a number of these genes (including NRXN1, CNTNAP2 and CASK) are known to cause diverse neurodevelopmental brain disorder phenotypes including schizophenia, ..
- Structural insights into the exquisite selectivity of neurexin/neuroligin synaptic interactionsPhilippe Leone
Architecture et Fonction des Macromolecules Biologiques, CNRS Université d Aix Marseille, Campus Luminy, Marseille, France
EMBO J 29:2461-71. 2010..Although neuroligin-1 and neuroligin-2 have pre-determined conformations that respectively promote and prevent Nrx1beta association, unique conformational reshaping of the NL4 surface is required to permit Nrx1beta association...
- Ca2+ -dependent splicing of neurexin IIalphaG 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. 2007Neurexins 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...
- The possible interplay of synaptic and clock genes in autism spectrum disordersT 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...
- Bridging the synaptic gap: neuroligins and neurexin I in Apis melliferaSunita Biswas
University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia
PLoS ONE 3:e3542. 2008..Whereas vertebrates have three neurexins the bee has just one gene named neurexin I (400 kb, 28 exons)...
- Hotspots of large rare deletions in the human genomeW Edward C Bradley
Department of Medicine, Universite de Montreal, Montreal, Quebec, Canada
PLoS ONE 5:e9401. 2010..We have examined the genomic distribution of large rare autosomal deletions in a sample of 440 parent-parent-child trios from the Quebec founder population (QFP) which was recruited for a study of Attention Deficit Hyperactivity Disorder...
- Prenatal exposure to valproic acid leads to reduced expression of synaptic adhesion molecule neuroligin 3 in miceE Kolozsi
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada
Neuroscience 163:1201-10. 2009..with densitometry to examine expression of three NLGN genes (NLGN1, NLGN2, and NLGN3) and three NRXN genes (NRXN1, NRXN2, and NRXN3)...
- Sensory regulation of neuroligins and neurexin I in the honeybee brainSunita Biswas
Queensland Brain Institute, The University of Queensland, St Lucia, Queensland, Australia
PLoS ONE 5:e9133. 2010..Therefore, we investigated whether neuroligins and neurexin are differentially regulated by sensory input using a behavioural model system with an advanced capacity for sensory processing, learning and memory, the honeybee...
- Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomesDarja Kanduc
Department of Biochemistry and Molecular Biology, University of Bari, Italy
Biologics 4:245-61. 2010..many human proteins that share peptide sequences with influenza A polyprotein are antigens such as reelin, neurexin I-α, myosin-IXa, Bardet-Biedl syndrome 10 protein, Williams syndrome transcription factor, disrupted in ..
- Influence of neurexin 1 (NRXN1) polymorphisms in clozapine responseRenan P Souza
Neurogenetics Section, Neuroscience Department, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Hum Psychopharmacol 25:582-5. 2010..We tested this association using polymorphisms in the neurexin 1 gene (NRXN1). Large NRXN1 deletions have also been associated with schizophrenia...
- Gene and miRNA expression profiles in autism spectrum disordersMohammad M Ghahramani Seno
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Brain Res 1380:85-97. 2011..Some rare and highly-penetrant gene variants and copy number variation (CNV) regions including NLGN3, NLGN4, NRXN1, SHANK2, SHANK3, PTCHD1, 1q21.1, maternally-inherited duplication of 15q11-q13, 16p11...
- [alpha-Latrotoxin as an instrument for studying neurosecretions]N H Himmel'reĭkh
Palladin Institute of Biochemistry, NAS of Ukraine, Kyiv
Ukr Biokhim Zh 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...
- A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autismYasemin Soysal
Department of Medical Genetics, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey
Am J Med Genet A 155:1745-52. 2011..Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs...
- Presenilin/γ-secretase regulates neurexin processing at synapsesCarlos A Saura
Institut de Neurociencies, Departament de Bioquimica i Biologia Molecular, Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas CIBERNED, Universitat Autonoma de Barcelona, Bellaterra, Barcelona, Spain
PLoS ONE 6:e19430. 2011..These results suggest that PS regulate the synaptic function and processing of neurexins at glutamatergic synapses, and that impaired neurexin processing by PS may play a role in FAD...
- A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han populationWeihua Yue
Institute of Mental Health, Peking University Beijing, 100191, PR China
Behav Brain Funct 7:7. 2011Recent research has implicated that mutations in the neurexin-1 (NRXN1) gene on chromosome 2p16.3 might play a role in schizophrenia, autism, and nicotine dependence...
- Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaJulie 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 ..
- 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...
- The neurobiology of schizophrenia: new leads and avenues for treatmentNicholas J Bray
Department of Neuroscience, Institute of Psychiatry, King s College London, UK
Curr Opin Neurobiol 20:810-5. 2010..ZNF804A, TCF4 and NRGN, which contain common variants that weakly increase schizophrenia susceptibility, and NRXN1, in which rare copy number variants have a greater impact on schizophrenia risk...
- Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autismAlexander 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....
- RNA-Seq studies of Gene Expression in Cells and Networks in FI and ACC in AutismBarbara J Wold; Fiscal Year: 2010..an autism-B 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...
- TrkB Agonist(s), a Potential Therapy for Autism Spectrum DisordersYi 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...
- Neural Mechanisms of Chemotherapy-Induced Cognitive DisorderAndrew Saykin; Fiscal Year: 2007..abstract_text> ..
- Multicenter Genetics Studies of SchizophreniaDouglas Levinson; Fiscal Year: 2008..unreadable] [unreadable]..
- GENETIC LINKAGE OF SCHIZOPHRENIA AND RELATED STUDIESDouglas Levinson; Fiscal Year: 2005..abstract_text> ..
- MOLECULAR GENETICS OF SCHIZOPHRENIADouglas 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. ..
- Genomic Imbalances in AutismSusan 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. ..
- Genetics of Early-Onset DepressionDouglas Levinson; Fiscal Year: 2008..abstract_text> ..