Genomes and Genes
Gene Symbol: NRXN1
Description: neurexin 1
Alias: Hs.22998, PTHSL2, SCZD17, neurexin-1, neurexin I
Publications122 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...
- 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...
- 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...
- 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...
- 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...
- 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 ..
- 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...
- Neuroligin 1: a splice site-specific ligand for beta-neurexinsK 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosisMarkus 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...
- Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroliginsEthan 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....
- 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...
- 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 ..
- 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...
- 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...
- Structural basis for synaptic adhesion mediated by neuroligin-neurexin interactionsXiaoyan 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...
- Structures of neuroligin-1 and the neuroligin-1/neurexin-1 beta complex reveal specific protein-protein and protein-Ca2+ interactionsDemet 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...
- 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 ..
- 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...
- Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory componentsCarsten 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....
- Neuroligins and neurexins link synaptic function to cognitive diseaseThomas 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...
- 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 ..
- 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...
- 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 ..
- 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...
- 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...
- 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 ..
- 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...
- 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...
- 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)...
- 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....
- 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...
- 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 ..
- 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. 2011b>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...
- 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...
- 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...
- 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...
- 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...
- 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 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...
- 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...
- 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.
- 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 ..
- 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....
- 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 ..
- 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...
- Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplicationsDouglas F Levinson
Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA 94304 5797, USA
Am J Psychiatry 168:302-16. 2011....
- Neuroligin-1 induces neurite outgrowth through interaction with neurexin-1β and activation of fibroblast growth factor receptor-1Michelle 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. 2012Neurexin-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 ..
- Recurrent targeted genes of hepatitis B virus in the liver cancer genomes identified by a next-generation sequencing-based approachDong 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 ..
- Genetic study of neurexin and neuroligin genes in Alzheimer's diseaseAmalia 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)...
- CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1Abhishek 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...
- Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortiumQing 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)...
- TGF-β1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung diseaseXiao 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...
- Age-related expression of Neurexin1 and Neuroligin3 is correlated with presynaptic density in the cerebral cortex and hippocampus of male miceDhiraj Kumar
Biochemistry and Molecular Biology Laboratory, Brain Research Centre, Department of Zoology, Banaras Hindu University, Varanasi, 221005, India
Age (Dordr) 37:17. 2015Neurexin1 (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...
- Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric DisordersSteven 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.
- Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1Mathew 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...
- One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic TwinsPatrik 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...
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expressionChelsea Lowther
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada
Genet Med . 2016The purpose of the current study was to assess the penetrance of NRXN1 deletions.
- 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...
- 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...
- 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...
- 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...
- 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...
- 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 spectrum ..
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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. 2011b>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...
- 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...
- 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 ..
- 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 ..
- 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....
- 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...
- [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...
- 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....
- 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...
- 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...
- RNA-Seq studies of Gene Expression in Cells and Networks in FI and ACC in AutismBarbara 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...
- 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...
- 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...
- 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 ..
- Identification of Candidate Genes at the Synapse in Autism Spectrum DisordersABHA 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...
- 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...
- SYNUCLEIN FUNCTIONS: ROLE IN PARKINSON'S DISEASETHOMAS 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. ..
- APP, Alzheimer's Disease, and Synaptic FunctionTHOMAS 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. ..
- A systematic test of the relation of ASD heterogeneity to synaptic functionTHOMAS 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. ..
- 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> ..