CNTNAP2

Summary

Gene Symbol: CNTNAP2
Description: contactin associated protein-like 2
Alias: AUTS15, CASPR2, CDFE, NRXN4, PTHSL1, contactin-associated protein-like 2, cell recognition molecule Caspr2, homolog of Drosophila neurexin IV
Species: human

Top Publications

  1. ncbi Molecular domains of myelinated axons
    E Peles
    Department of Molecular Cell Biology, The Weizmann Institute of Science, 76100, Rehovot, Israel
    Curr Opin Neurobiol 10:558-65. 2000
  2. ncbi Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    N Engl J Med 354:1370-7. 2006
  3. pmc PGY repeats and N-glycans govern the trafficking of paranodin and its selective association with contactin and neurofascin-155
    Carine Bonnon
    Neurobiologie des Interactions Cellulaires et Neurophysiopathologie, CNRS UMR 6184, Universite de la Mediterranee, Institut Jean Roche, 13916 Marseille Cedex 20, France
    Mol Biol Cell 18:229-41. 2007
  4. pmc Unraveling autism
    Dietrich A Stephan
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Am J Hum Genet 82:7-9. 2008
  5. doi Impairment of learning and memory in TAG-1 deficient mice associated with shorter CNS internodes and disrupted juxtaparanodes
    Maria Savvaki
    Department of Basic Science, University of Crete Medical School, and Institute of Molecular Biology and Biotechnology, Heraklion, Greece
    Mol Cell Neurosci 39:478-90. 2008
  6. ncbi Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels
    S Poliak
    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot, Israel
    Neuron 24:1037-47. 1999
  7. ncbi The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35
    K Nakabayashi
    Department of Genetics, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
    Genomics 73:108-12. 2001
  8. ncbi Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres
    Natalia Denisenko-Nehrbass
    INSERM UPMC U536, Institut du Fer a Moulin, 17, rue du Fer à Moulin, 75005 Paris, France
    Eur J Neurosci 17:411-6. 2003
  9. ncbi CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
    Annemieke J M H Verkerk
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Genomics 82:1-9. 2003
  10. pmc Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1
    Sebastian Poliak
    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot 76100, Israel
    J Cell Biol 162:1149-60. 2003

Research Grants

  1. Cntnap2 in a behavioral model of autism
    Stephanie Ann White; Fiscal Year: 2010
  2. Josep O Dalmau; Fiscal Year: 2014
  3. Eric Lancaster; Fiscal Year: 2016
  4. Elior Peles; Fiscal Year: 2015
  5. iPS Cell-Derived Neurons Carrying an allelic series of CNTNAP2 structural mutatio
    MARIA contact KARAYIORGOU; Fiscal Year: 2010
  6. Pavel Osten; Fiscal Year: 2016
  7. Daniel H Geschwind; Fiscal Year: 2014
  8. Davide Comoletti; Fiscal Year: 2015
  9. Joel Gelernter; Fiscal Year: 2016
  10. Investigating the role of CNTNAP2 gene in vocal learning in mutant songbirds
    Carlos Lois; Fiscal Year: 2013

Scientific Experts

Detail Information

Publications133 found, 100 shown here

  1. ncbi Molecular domains of myelinated axons
    E Peles
    Department of Molecular Cell Biology, The Weizmann Institute of Science, 76100, Rehovot, Israel
    Curr Opin Neurobiol 10:558-65. 2000
    ..molecules, Na(+) channels and ankyrin G at the nodes, Caspr and contactin in the paranodes, and K(+) channels and Caspr2 in the juxtaparanodal region have been identified, and new insights into the role of the paranodal junctions in ..
  2. ncbi Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    N Engl J Med 354:1370-7. 2006
    Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K(v)1.1) at the nodes of Ranvier...
  3. pmc PGY repeats and N-glycans govern the trafficking of paranodin and its selective association with contactin and neurofascin-155
    Carine Bonnon
    Neurobiologie des Interactions Cellulaires et Neurophysiopathologie, CNRS UMR 6184, Universite de la Mediterranee, Institut Jean Roche, 13916 Marseille Cedex 20, France
    Mol Biol Cell 18:229-41. 2007
    ..Caspr/paranodin is required for the formation of septate-like junctions at paranodes, whereas the related caspr2 is essential for the organization of juxtaparanodes...
  4. pmc Unraveling autism
    Dietrich A Stephan
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Am J Hum Genet 82:7-9. 2008
    In this issue of AJHG, Alarcón et al.,(1) Arking et al.,(2) and Bakkaloglu et al.(3) identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population.
  5. doi Impairment of learning and memory in TAG-1 deficient mice associated with shorter CNS internodes and disrupted juxtaparanodes
    Maria Savvaki
    Department of Basic Science, University of Crete Medical School, and Institute of Molecular Biology and Biotechnology, Heraklion, Greece
    Mol Cell Neurosci 39:478-90. 2008
    ..TAG-1 is also required for the clustering of Kv1.1/1.2 potassium channels and Caspr2 at the juxtaparanodes of myelinated fibers...
  6. ncbi Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels
    S Poliak
    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot, Israel
    Neuron 24:1037-47. 1999
    ..Here, we describe the identification of Caspr2, a mammalian homolog of Drosophila Neurexin IV (Nrx-IV), and show that this neurexin-like protein and the closely related molecule Caspr/Paranodin ..
  7. ncbi The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35
    K Nakabayashi
    Department of Genetics, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
    Genomics 73:108-12. 2001
    ..To study the human contactin-associated protein-like 2 gene (CNTNAP2), we have determined its complete DNA sequence and its genomic organization to comprise 25 exons spanning greater ..
  8. ncbi Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres
    Natalia Denisenko-Nehrbass
    INSERM UPMC U536, Institut du Fer a Moulin, 17, rue du Fer à Moulin, 75005 Paris, France
    Eur J Neurosci 17:411-6. 2003
    ..A closely related protein, Caspr2, is concentrated in juxtaparanodal regions where it associates indirectly with the shaker-type potassium channels...
  9. ncbi CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
    Annemieke J M H Verkerk
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Genomics 82:1-9. 2003
    ..2p21-p23 insertion on chromosome 7q35-q36, thereby interrupting the contactin-associated protein 2 gene (CNTNAP2). This gene encodes a membrane protein located in a specific compartment at the nodes of Ranvier of axons...
  10. pmc Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1
    Sebastian Poliak
    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot 76100, Israel
    J Cell Biol 162:1149-60. 2003
    ..K+ channels are concealed under the myelin sheath in the juxtaparanodal region, where they are associated with Caspr2, a member of the neurexin superfamily...
  11. ncbi Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
    Jose M Belloso
    Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 KBH N Copenhagen, Denmark
    Eur J Hum Genet 15:711-3. 2007
    ..Recently, truncation of the CNTNAP2 gene coding for the Caspr2 protein has been suggested to be associated with the Gilles de la Tourette syndrome, a ..
  12. ncbi CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
    J I Friedman
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA
    Mol Psychiatry 13:261-6. 2008
    A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community...
  13. pmc Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    Maricela Alarcon
    UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Am J Hum Genet 82:150-9. 2008
    ..Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate...
  14. pmc A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 82:160-4. 2008
    ..We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility...
  15. pmc Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
    Betul Bakkaloglu
    Program on Neurogenetics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
    Am J Hum Genet 82:165-73. 2008
    ..7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and Contactin Associated Protein-Like 2 (CNTNAP2) in a child with cognitive and social delay...
  16. pmc A functional genetic link between distinct developmental language disorders
    Sonja C Vernes
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    N Engl J Med 359:2337-45. 2008
    ..Rare mutations affecting the FOXP2 transcription factor cause a monogenic speech and language disorder. We hypothesized that neural pathways downstream of FOXP2 influence more common phenotypes, such as specific language impairment...
  17. pmc Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
    J Elia
    Department of Child and Adolescent Psychiatry, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Mol Psychiatry 15:637-46. 2010
    ..genes reported as candidates in studies of autism, schizophrenia and Tourette syndrome, including A2BP1, AUTS2, CNTNAP2 and IMMP2L...
  18. 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 ..
  19. 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...
  20. pmc Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
    Heather C Mefford
    Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
    PLoS Genet 6:e1000962. 2010
    ..previously implicated in other neurodevelopmental disorders, including two deletions in AUTS2 and one deletion in CNTNAP2. Therefore, our findings indicate that rare CNVs are likely to contribute to a broad range of generalized and ..
  21. pmc Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome
    Mandy Krumbiegel
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Eur J Hum Genet 19:186-93. 2011
    ..Further single genotyping at CNTNAP2 locus revealed association between PEX/PEXG for two SNPs, which was confirmed in an independent German but not ..
  22. pmc CNTNAP2 variants affect early language development in the general population
    A J O Whitehouse
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia
    Genes Brain Behav 10:451-6. 2011
    ..Recent studies of disorder reported that variants of the CNTNAP2 gene are associated both with language deficits in specific language impairment (SLI) and with language delays in ..
  23. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and ..
  24. doi Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals
    Heather C Whalley
    Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK
    Am J Med Genet B Neuropsychiatr Genet 156:941-8. 2011
    ..one of the most promising candidate genes implicated in its pathogenesis is contactin-associated protein-like 2 (CNTNAP2), a gene also associated with language impairment...
  25. pmc What does CNTNAP2 reveal about autism spectrum disorder?
    Olga Penagarikano
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Trends Mol Med 18:156-63. 2012
    ..Neurobiological, genetic, and imaging data provide strong evidence for the CNTNAP2 gene as a risk factor for ASD and related neurodevelopmental disorders...
  26. pmc Shining a light on CNTNAP2: complex functions to complex disorders
    Pedro Rodenas-Cuadrado
    Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands
    Eur J Hum Genet 22:171-8. 2014
    ..The CNTNAP2 gene is an excellent example of this, as it has recently been implicated in a broad range of phenotypes including ..
  27. pmc Defining the contribution of CNTNAP2 to autism susceptibility
    Srirangan Sampath
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetics Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 8:e77906. 2013
    Multiple lines of genetic evidence suggest a role for CNTNAP2 in autism. To assess its population impact we studied 2148 common single nucleotide polymorphisms (SNPs) using transmission disequilibrium test (TDT) across the entire ~3...
  28. doi Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
    Martin Poot
    Department of Medical Genetics, University Medical Centre Utrecht, Mail stop KC 04 084 2, P O Box 85090, 3508, Utrecht, The Netherlands
    Neurogenetics 11:81-9. 2010
    ..BACs mapped both inversion breakpoints and revealed additional breaks and structural changes in the CNTNAP2 gene. Two gene segments were transposed and inserted into the 1q31...
  29. ncbi Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains
    Ivo Spiegel
    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot 76100, Israel
    Mol Cell Neurosci 20:283-97. 2002
    ..The NCP family of cell-recognition molecules represents a distinct subgroup of the neurexins that includes Caspr and Caspr2, as well as Drosophila Neurexin-IV and axotactin...
  30. pmc Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia
    Sarosh R Irani
    Neurosciences Group, Department of Clinical Neurology, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Brain 133:2734-48. 2010
    ....
  31. ncbi Recent progress on the molecular organization of myelinated axons
    Steven S Scherer
    Department of Neurology, The University of Pennsylvania Medical Center, Philadelphia 19104, USA
    J Peripher Nerv Syst 7:1-12. 2002
    ..1 and Kv1.2, their associated beta2 subunit, as well as Caspr2. Kv1.1, Kv1.2, and Caspr2 all have PDZ binding sites and likely interact with the same PDZ binding protein...
  32. pmc Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case
    Aline L Petrin
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 152:3164-72. 2010
    ..with a 10 Mb deletion of chromosome region 7q33-35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene...
  33. ncbi Altered expression of ion channel isoforms at the node of Ranvier in P0-deficient myelin mutants
    Jochen C Ulzheimer
    Section of Developmental Neurobiology, Department of Neurology, University of Wuerzburg, D 97080 Wuerzburg, Germany
    Mol Cell Neurosci 25:83-94. 2004
    ..The potassium channel K(v)1.2 and Caspr2 were not confined to juxtaparanodes, but often protruding into the paranodes...
  34. pmc Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2
    Ashley A Scott-Van Zeeland
    Center for Cognitive Neuroscience, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Sci Transl Med 2:56ra80. 2010
    ..Common variants in contactin-associated protein-like 2 (CNTNAP2), a neurexin superfamily member, have been associated with several allied neurodevelopmental disorders, including ..
  35. doi Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
    Lucia Ballarati
    Lab Citogenetica Medica e Genetica Molecolare, IRCCS, Istituto Auxologico Italiano, Milan, Italy
    Eur J Med Genet 52:218-23. 2009
    ..speculate that loss of CNTNAP5 might contribute to the developmental language delay of this patient, similar to CNTNAP2, another member of the same protein family, whose alterations have been recently associated with delay in the age ..
  36. doi The expression of TAG-1 in glial cells is sufficient for the formation of the juxtaparanodal complex and the phenotypic rescue of tag-1 homozygous mutants in the CNS
    Maria Savvaki
    Department of Basic Science, Faculty of Medicine, University of Crete and Institute of Molecular Biology and Biotechnology Foundation for Research and Technology, 71110, Heraklion, Crete, Greece
    J Neurosci 30:13943-54. 2010
    ..of myelinated fibers as it maintains the integrity of the juxtaparanodal region through its interactions with Caspr2 and the voltage-gated potassium channels (VGKCs) on the axolemma...
  37. 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
    ..and mutation analysis of candidate genes have implicated the synaptic genes NRXN1, NLGN3, NLGN4, SHANK3, and CNTNAP2 in ASDs...
  38. pmc Recent advances in the genetics of language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Genome Med 2:6. 2010
    ..been associated with spoken language disorders - forkhead box P2 (FOXP2) and contactin-associated protein-like 2 (CNTNAP2) on chromosome7 and calcium-transporting ATPase 2C2 (ATP2C2) and c-MAF inducing protein (CMIP) on chromosome 16...
  39. 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. Interestingly, NRXN1 deletions have been reported in schizophrenia, whereas CNTNAP2 variants are associated with ..
  40. pmc Genetic advances in the study of speech and language disorders
    D F Newbury
    Wellcome Trust Centre for Human Genetics, Headington, Oxford, UK
    Neuron 68:309-20. 2010
    ..We discuss how the identification and study of specific genes and pathways, including FOXP2, CNTNAP2, ATP2C2, CMIP, and lysosomal enzymes, may advance our understanding of the etiology of speech and language ..
  41. pmc Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers
    Maria Traka
    Department of Basic Science, University of Crete Medical School, Heraklion 71110, Crete, Greece
    J Cell Biol 162:1161-72. 2003
    ..In the absence of TAG-1, axonal Caspr2 did not accumulate at juxtaparanodes, and the normal enrichment of shaker-type K+ channels in these regions was ..
  42. pmc Genome-wide profiling of methylated promoters in pancreatic adenocarcinoma
    Noriyuki Omura
    Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
    Cancer Biol Ther 7:1146-56. 2008
    ..Many genes undergo aberrant methylation in human cancers, and microarray platforms enable more comprehensive profiling of aberrant DNA methylation patterns...
  43. pmc Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B
    Ido Horresh
    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot 76100, Israel
    J Neurosci 30:2480-9. 2010
    Caspr and Caspr2 regulate the formation of distinct axonal domains around the nodes of Ranvier...
  44. pmc Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2
    Geoffrey C Y Tan
    Wellcome Trust Centre for Neuroimaging, Institute of Neurology, University College London, UK
    Neuroimage 53:1030-42. 2010
    ..Polymorphisms of CNTNAP2 (contactin-associated like protein-2), a member of the neurexin family, have already been implicated as a ..
  45. pmc Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds
    S Carmen Panaitof
    Department of Physiological Science, University of California, Los Angeles, California 90095, USA
    J Comp Neurol 518:1995-2018. 2010
    Multiple studies, involving distinct clinical populations, implicate contactin associated protein-like 2 (CNTNAP2) in aspects of language development and performance...
  46. pmc Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
    Garret R Anderson
    Department of Molecular and Cellular Physiology, Nancy Pritzker Laboratory, Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 109:18120-5. 2012
    Mutations in the contactin-associated protein 2 (CNTNAP2) gene encoding CASPR2, a neurexin-related cell-adhesion molecule, predispose to autism, but the function of CASPR2 in neural circuit assembly remains largely unknown...
  47. doi Paraneoplastic disorders of the peripheral nervous system
    Jean Christophe Antoine
    Department of Neurology, University Hospital of Saint Etienne, Saint Etienne, France
    Presse Med 42:e235-44. 2013
    ..directed to intracellular (anti-Hu or anti-CV2/CRMP5 antibodies) or surface antigens (anti-VGCC,or LGI1 and Caspr2 antibodies) have been identified while with lymphoma, the neuropathy is usually linked to a monoclonal gammopathy...
  48. pmc Distribution of language-related Cntnap2 protein in neural circuits critical for vocal learning
    Michael C Condro
    Molecular, Cellular and Integrative Physiology Interdepartmental Program, University of California, Los Angeles, California, 90095
    J Comp Neurol 522:169-85. 2014
    Variants of the contactin associated protein-like 2 (Cntnap2) gene are risk factors for language-related disorders including autism spectrum disorder, specific language impairment, and stuttering...
  49. doi Cramp-fasciculation syndrome in patients with and without neural autoantibodies
    Teerin Liewluck
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA Department of Neurology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, Colorado, USA
    Muscle Nerve 49:351-6. 2014
    ..We investigated the clinical, electrophysiological and neural autoantibody characteristics in cramp-fasciculation syndrome (CFS) patients...
  50. pmc Determination of neuronal antibodies in suspected and definite Creutzfeldt-Jakob disease
    Oriol Grau-Rivera
    Service of Neurology, Hospital Clinic, Barcelona, Spain
    JAMA Neurol 71:74-8. 2014
    ..Establishing the correct diagnosis has practical implications in the management of care for these patients...
  51. doi Caspr2 antibody limbic encephalitis is associated with Hashimoto thyroiditis and thymoma
    Chih Hong Lee
    Section of Epilepsy, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University College of Medicine, Taoyuan, Taiwan
    J Neurol Sci 341:36-40. 2014
    Contactin-associated protein 2 (Caspr2) antibody is a neuronal surface antibody (NSAb) capable of causing disorders involving central and peripheral nervous systems (PNS)...
  52. doi Human speech- and reading-related genes display partially overlapping expression patterns in the marmoset brain
    Masaki Kato
    Laboratory for Symbolic Cognitive Development, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan Laboratory for Biolinguistics, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan Center for Advanced Research on Logic and Sensibility CARLS, Keio University, 2 15 45 Mita, Minato ku, Tokyo 108 8345, Japan Electronic address
    Brain Lang 133:26-38. 2014
    ..Expression patterns of speech disorder- (FoxP2, FoxP1, CNTNAP2, and CMIP) and dyslexia- (ROBO1, DCDC2, and KIAA0319) related genes were analyzed...
  53. doi Antibodies to neural and non-neural autoantigens in Japanese patients with CNS demyelinating disorders
    Mitsuru Watanabe
    Department of Neurology, Kitano Hospital Medical Research Institute, 2 4 20 Ohgimachi, Kita ku, Osaka 530 8480, Japan Electronic address
    J Neuroimmunol 274:155-60. 2014
    ..Thus, autoantibodies can be clinically silent, but multiple autoantibodies may participate in the pathogenesis. ..
  54. doi Guillain-Barré syndrome associated with CASPR2 antibodies: two paediatric cases
    Richard E Rosch
    Department of Clinical Neurosciences, Institute of Psychiatry, King s College London, London, UK
    J Peripher Nerv Syst 19:246-9. 2014
    ..Antibodies to contactin-associated protein-like 2 (CASPR2), part of the voltage-gated potassium channel complex (VGKC-complex), are associated with neurological disease ..
  55. pmc Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism
    Olga Penagarikano
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA Center for Autism Research and Treatment and Center for Neurobehavioral Genetics, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Sci Transl Med 7:271ra8. 2015
    ..We previously demonstrated that knockout of the mouse homolog of CNTNAP2 (contactin-associated protein-like 2), in which mutations cause cortical dysplasia and focal epilepsy (CDFE) ..
  56. pmc No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins
    John D Murdoch
    Yale University Department of Genetics, New Haven, Connecticut, United States of America
    PLoS Genet 11:e1004852. 2015
    Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number ..
  57. pmc The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study
    Amos Gdalyahu
    Department of Neurobiology, Integrative Center for Learning and Memory, Semel Institute for Neuroscience and Behavior, Brain Research Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, United States of America
    PLoS ONE 10:e0125633. 2015
    ..We hypothesized that CNTNAP2, a protein associated with autism, would play a key role in this process...
  58. doi Rasmussen Syndrome and Other Inflammatory Epilepsies
    Sophia Varadkar
    Epilepsy Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Institute of Child Health, London, United Kingdom
    Semin Neurol 35:259-68. 2015
    ..acid), voltage-gated potassium channel complex (contactin-associated-protein 2 [CASPR2], contactin-2 and leucin-rich, glioma-inactivated 1 [LGI1]), and γ-aminobutyric acid (GABA) receptors (GABABR and ..
  59. doi Differential modulation of the juxtaparanodal complex in Multiple Sclerosis
    Maria E Kastriti
    Department of Basic Science, Faculty of Medicine, University of Crete, Heraklion, Greece Institute of Molecular Biology and Biotechnology FoRTH, Heraklion, Greece
    Mol Cell Neurosci 67:93-103. 2015
    ..Here we report on alterations of the juxtaparanodal proteins TAG-1, Caspr2 and VGKCs in normal appearing white matter (NAWM), perilesion and chronic lesion areas in post-mortem white matter ..
  60. doi Genetics of long-term treatment outcome in bipolar disorder
    Chiara Fabbri
    Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy
    Prog Neuropsychopharmacol Biol Psychiatry 65:17-24. 2016
    ..Genes previously involved in the susceptibility to BD (DFNB31, SORCS2, NRXN1, CNTNAP2, GRIN2A, GRM4, GRIN2B), antidepressant action (DEPTOR, CHRNA7, NRXN1), and mood stabilizer or antipsychotic ..
  61. pmc Gilles de la Tourette syndrome is not linked to contactin-associated protein receptor 2 antibodies
    Kurt Wolfram Sühs
    Klinik fur Neurologie, Medizinische Hochschule Hannover, Carl Neuberg Str 1, 30625, Hannover, Germany
    Mol Brain 8:62. 2015
    ..In familial GTS a disruption of the contactin-associated protein 2 gene (CNTNAP2), coding for the contactin-associated protein 2 (CASPR2), has been reported...
  62. pmc Structural Characterization of the Extracellular Domain of CASPR2 and Insights into Its Association with the Novel Ligand Contactin1
    Eva N Rubio-Marrero
    From the Child Health Institute of New Jersey and Departments of Neuroscience and Cell Biology and
    J Biol Chem 291:5788-802. 2016
    Contactin-associated protein-like 2 (CNTNAP2) encodes for CASPR2, a multidomain single transmembrane protein belonging to the neurexin superfamily that has been implicated in a broad range of human phenotypes including autism and ..
  63. pmc Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells
    Inkyu S Lee
    Departments of Psychiatry and Neuroscience, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029
    NPJ Schizophr 1:. 2015
    ..several candidate genes associated with these disorders, including contactin-associated protein-like 2 (CNTNAP2)...
  64. doi Autoimmune sleep disorders
    Michael H Silber
    Center for Sleep Medicine and Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA Electronic address
    Handb Clin Neurol 133:317-26. 2016
    ..and limbic encephalitis, associated with voltage-gated potassium channel-complex antibodies, principally against CASPR2 and LGI1, can result in profound insomnia and rapid eye movement sleep behavior disorder (RBD)...
  65. doi Clinical-pathologic correlations in VGKC-subtyped autoimmune painful polyneuropathy
    Rajat Lahoria
    Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, USA
    Muscle Nerve . 2016
    ..VGKC) autoantibodies subtyped for leucine-rich-glioma-inactivated-1 (LGI1), contactin-associated-protein-like-2 (CASPR2), and Kv-IgGs have a spectrum of neurological presentations...
  66. ncbi [Voltage-Gated Potassium Channel-Complex Antibodies Associated Encephalopathy and Related Diseases]
    Osamu Watanabe
    Department of Neurology, Research and Education Assembly Medical and Dental Sciences Area Medical and Dental Hospital
    Brain Nerve 68:1011-1023. 2016
    ..indicated that the VGKC complex antibodies are mainly directed toward associated proteins (for example LGI1, Caspr2) that complex with VGKCs themselves...
  67. pmc Morvan's syndrome with anti contactin associated protein like 2 - voltage gated potassium channel antibody presenting with syndrome of inappropriate antidiuretic hormone secretion
    Anjani Kumar Sharma
    Department of Neurology, Sawai ManSingh Medical College, Jaipur, Rajasthan, India
    J Neurosci Rural Pract 7:577-579. 2016
    ..Antibodies against contactin-associated protein-like 2 (CASPR2), a subtype of voltage-gated potassium channel (VGKC) complex, are found in a significant proportion of patients ..
  68. doi Stabilizing cadmium into aluminate and ferrite structures: Effectiveness and leaching behavior
    Minhua Su
    School of Environmental Science and Engineering, Guangzhou University, Guangzhou, 510275, PR China Department of Civil Engineering, The University of Hong Kong, Pokfulam Road, Hong Kong, China Electronic address
    J Environ Manage 187:340-346. 2017
    ..crystallographically incorporated into aluminate (CdAl4O7) monoclinic structure and ferrite (CdFe2O4) spinel, dependent on the type of precursor used...
  69. ncbi Localization of Caspr2 in myelinated nerves depends on axon-glia interactions and the generation of barriers along the axon
    S Poliak
    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot 76100, Israel
    J Neurosci 21:7568-75. 2001
    ..Caspr is present at the paranodal junction formed between the axon and myelinating glial cells, whereas Caspr2 is localized and associates with K(+) channels at the adjacent juxtaparanodal region...
  70. pmc Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
    Olga Penagarikano
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Cell 147:235-46. 2011
    ..Here, we characterize a mouse knockout of the Cntnap2 gene, which is strongly associated with ASD and allied neurodevelopmental disorders...
  71. pmc Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia
    Esther B E Becker
    Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford University, Oxford, UK
    J Neurol Neurosurg Psychiatry 83:437-40. 2012
    ..Relatively few studies have searched for potentially pathogenic antibodies in non-paraneoplastic patients with cerebellar ataxia...
  72. doi Direct downregulation of CNTNAP2 by STOX1A is associated with Alzheimer's disease
    Daan van Abel
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Alzheimers Dis 31:793-800. 2012
    ..Our results show that CNTNAP2, a member of the neurexin family, is directly downregulated by STOX1A...
  73. 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...
  74. pmc Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
    Giulia Falivelli
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA 92093, USA
    Hum Mol Genet 21:4761-73. 2012
    ..found to be associated with autism spectrum disorders, one of the most consistently replicated genes has been CNTNAP2, encoding for contactin-associated protein-like 2 (CASPR2), a multidomain transmembrane protein of the neurexin ..
  75. 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
    ..with ASDs are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients (133 patients from US and 88 from Italy)...
  76. doi CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population
    Weidong Ji
    Shanghai Changning Mental Health Center, 299 XieHe Road, Shanghai 200042, PR China
    Psychiatry Res 207:225-8. 2013
    b>CNTNAP2, located on 7q35-36.1, encodes a single-pass transmembrane protein mediating cell-cell interactions in the nervous system...
  77. doi Decoding the genetics of speech and language
    Sarah A Graham
    Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 XD, The Netherlands
    Curr Opin Neurobiol 23:43-51. 2013
    ..problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment...
  78. doi Antibodies identified by cell-based assays in myasthenia gravis and associated diseases
    Angela Vincent
    Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, United Kingdom
    Ann N Y Acad Sci 1274:92-8. 2012
    ..are now also being used for the detection of other antibodies, such as those directed to components of the VGKC/CASPR2/LGI1 complex in Morvan's syndrome, and to AQP4 antibodies in neuromyelitis optica; both of these diseases can be ..
  79. doi Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticity
    Avinash M Veerappa
    Genomics Laboratory, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, India
    J Hum Genet 58:539-47. 2013
    ..of five de novo CNVs in regions harboring GABARAP, NEGR1, ACCN1, DCDC5, and one in already known candidate gene CNTNAP2. These genes are located on regions of chromosomes 17p13.1, 1p31.1, 17q11.21, 11p14...
  80. pmc Molecular replacement: tricks and treats
    Chantal Abergel
    Information Genomique et Structurale, IGS UMR 7256, CNRS, Aix Marseille Universite, IMM, FR3479, 163 Avenue de Luminy case 934, 13288 Marseille Cedex 09, France
    Acta Crystallogr D Biol Crystallogr 69:2167-73. 2013
    ..Here, an approach originally implemented in the CaspR server (http://www.igs.cnrs-mrs.fr/Caspr2/index.cgi) based on homology modelling to search for a molecular-replacement solution is discussed...
  81. pmc Defining the genetic architecture of human developmental language impairment
    Ning Li
    The Battelle Center for Mathematical Medicine, The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Life Sci 90:469-75. 2012
    ..e., genes chosen a priori and not through a genome scanning studies, including several studies of CNTNAP2 and some recent work implicating BDNF as a gene x gene interaction partner of genetic variation on chromosome 13 ..
  82. pmc Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2
    Emily L Dennis
    Laboratory of Neuro Imaging, Ahmanson Lovelace Brain Mapping Center, UCLA School of Medicine, Los Angeles, California 90095 7334, USA
    Brain Connect 1:447-59. 2011
    Recently, carriers of a common variant in the autism risk gene, CNTNAP2, were found to have altered functional brain connectivity using functional MRI...
  83. ncbi [Molecular genetics of functional articulation disorder in children]
    Yun Jing Zhao
    Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China
    Zhongguo Dang Dai Er Ke Za Zhi 14:316-20. 2012
    ..As a transcription factor, FOXP2 gene regulates the expression of many genes. CNTNAP2 as an important target gene of FOXP2 is a key gene influencing language development...
  84. pmc Cytotoxic CD8+ T cells and CD138+ plasma cells prevail in cerebrospinal fluid in non-paraneoplastic cerebellar ataxia with contactin-associated protein-2 antibodies
    Nico Melzer
    Department of Neurology, Inflammatory Disorders of the Nervous System and Neurooncology, University of Munster, Albert Schweitzer Campus 1, Munster 48149, Germany
    J Neuroinflammation 9:160. 2012
    ..CASPR-2 antibodies strongly labeling axons of cerebellar granule neurons have recently been identified in sera from nine patients with otherwise unexplained progressive cerebellar ataxia with mild to severe cerebellar atrophy...
  85. doi Paraneoplastic disorders of the CNS and autoimmune synaptic encephalitis
    Myrna R Rosenfeld
    Hospital Clinic Institute of Biomedical Investigations, University of Barcelona, Spain
    Continuum (Minneap Minn) 18:366-83. 2012
    This article provides an update on classic paraneoplastic syndromes of the CNS and autoimmune encephalitis syndromes associated with antibodies against synaptic proteins, including the NMDA receptor, LGI1, and Caspr2, among others.
  86. doi Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES
    Andreas van Baalen
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts Universitat zu Kiel, Kiel, Germany
    Neuropediatrics 43:209-16. 2012
    ..VGKC)-associated proteins leucin-rich glioma inactivated 1 (LGI1) and contactin-associated protein like 2 (CASPR2), and glutamic acid decarboxylase (GAD) by a multiparametric recombinant immunofluorescence assay employing human ..
  87. pmc Zebrafish foxP2 zinc finger nuclease mutant has normal axon pathfinding
    Lingyan Xing
    Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
    PLoS ONE 7:e43968. 2012
    ..There was a reduction in expression of the known foxP2 target gene cntnap2 that was rescued by injection of wild-type foxP2 transcript...
  88. ncbi Internodal specializations of myelinated axons in the central nervous system
    E J Arroyo
    Department of Neurology, The University of Pennsylvania, Philadelphia 19104, USA
    Cell Tissue Res 305:53-66. 2001
    ..1 and Kv1.2, their associated beta subunit, Kvbeta2, and Caspr2 in the myelinated fibers of the CNS. Caspr is localized to the paranodal axonal membrane, and Kv1.1, Kv1...
  89. pmc Clustering of neuronal potassium channels is independent of their interaction with PSD-95
    Matthew N Rasband
    Department of Biochemistry and Cell Biology, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
    J Cell Biol 159:663-72. 2002
    ..Kv1 (mammalian Shaker family) potassium channels and the neurexin Caspr2, both of which contain COOH-terminal PDZ domain binding peptide motifs, are found colocalized at high density at ..
  90. ncbi Common fragile sites, extremely large genes, neural development and cancer
    David I Smith
    Co head of the Ovarian Cancer Program, Mayo Clinic Cancer Center, Mayo Clinic College of Medicine, Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Rochester, MN 55905, USA
    Cancer Lett 232:48-57. 2006
    ..Thus far we have identified the following as CFS genes: CNTNAP2 (2.3 Mbs in FRA7I), DMD (2.09 Mbs in FRAXC), LRP1B (1.9 Mbs in FRA2F), CTNNA3 (1.78 Mbs in FRA10D), DAB1 (1...
  91. ncbi Spectrins and ankyrinB constitute a specialized paranodal cytoskeleton
    Yasuhiro Ogawa
    Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06030, USA
    J Neurosci 26:5230-9. 2006
    ..In contrast, genetic disruption of the juxtaparanodal protein Caspr2 or the nodal cytoskeletal protein betaIV spectrin did not alter the paranodal cytoskeleton...
  92. ncbi Structure-function analysis of protein complexes involved in the molecular architecture of juxtaparanodal regions of myelinated fibers
    Alexandros Tzimourakas
    Department of Basic Science, Neuroscience Graduate Program, University of Crete Medical School, Heraklion, Crete, Greece
    Biotechnol J 2:577-83. 2007
    ..We have shown that the immunoglobulin domains of the IgSF member TAG-1/Cnt-2 are necessary and sufficient for the direct, cis interaction of this protein with Caspr2 and potassium channels.
  93. pmc Genome-wide analyses of human perisylvian cerebral cortical patterning
    B S Abrahams
    Program in Neurogenetics and Neurobehavioral Genetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095 1769, USA
    Proc Natl Acad Sci U S A 104:17849-54. 2007
    ..Contactin associated protein-like 2 (CNTNAP2), in which mutations are known to cause autism, epilepsy, and language delay, showed a remarkable pattern of ..
  94. ncbi Non-random inactivation of large common fragile site genes in different cancers
    S McAvoy
    Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
    Cytogenet Genome Res 118:260-9. 2007
    ..of 13 of the 20 known large CFS genes: FHIT, WWOX, PARK2, GRID2, NBEA, DLG2, RORA isoforms 1 and 4, DAB1, CNTNAP2, DMD, IL1RAPL1, IMMP2L and LARGE in breast, ovarian, endometrial and brain cancers using real-time RT-PCR ..
  95. doi Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia
    Landry K Kamdem
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, Memphis, Tennessee 38105 2794, USA
    Pharmacogenet Genomics 18:507-14. 2008
    ..One of the adverse effects of glucocorticoids is hypertension. Our aim was to define the frequency of and clinical and genetic risk factors for steroid-induced hypertension...
  96. pmc Postsynaptic density-93 clusters Kv1 channels at axon initial segments independently of Caspr2
    Yasuhiro Ogawa
    Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    J Neurosci 28:5731-9. 2008
    ..1, Kv1.2, Kv1.4, and Kvbeta2 subunit-containing K(+) channels, Caspr2, and TAG-1 (transient axonal glycoprotein-1)...
  97. doi A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea
    Elena Rossi
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Eur J Med Genet 51:631-8. 2008
    ..Two genes, CNTNAP2 and NOBOX, both contained within the deletion region, have been recently associated with autism susceptibility ..
  98. pmc Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons
    Ido Horresh
    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot 76100, Israel
    J Neurosci 28:14213-22. 2008
    ..of Kv1 channels at the juxtaparanodal region (JXP) in myelinated axons depends on their association with the Caspr2/TAG-1 adhesion complex...
  99. doi Contact in the genetics of autism and schizophrenia
    J Peter H Burbach
    Rudolf Magnus Institute of Neuroscience, Department of Neuroscience and Pharmacology, University Medical Center Utrecht, P O Box 85060, 3508 AB Utrecht, The Netherlands
    Trends Neurosci 32:69-72. 2009
    ..One such gene is contactin-associated protein-2 (CNTNAP2)...

Research Grants23

  1. Cntnap2 in a behavioral model of autism
    Stephanie Ann White; Fiscal Year: 2010
    ..from comparing the expression patterns of the autism susceptibility gene, contactin-associated protein-like 2 (Cntnap2) in the brains of vocal learners and non-learners...
  2. Josep O Dalmau; Fiscal Year: 2014
    ..the GABA(B1) receptor (GABA(B1)R), Leucine rich glioma inactivated 1 (LGI1) and Contactin associated protein 2 (Caspr2)...
  3. Eric Lancaster; Fiscal Year: 2016
    ..The scientific program in this grant focuses on a disorder defined by antibodies to Caspr2, a protein expressed on axons in the central and peripheral nervous systems...
  4. Elior Peles; Fiscal Year: 2015
    ..We have previously identified several cell adhesion molecules (CAMs), including gliomedin, Caspr, Caspr2, and Necl4, which mediate axoglial contact at specific sites along the longitudinal axis of the myelin unit...
  5. iPS Cell-Derived Neurons Carrying an allelic series of CNTNAP2 structural mutatio
    MARIA contact KARAYIORGOU; Fiscal Year: 2010
    ..Rare, but recurrent CNVs affecting the CNTNAP2 gene, a member of the neurexin family, have been described in both disorders...
  6. Pavel Osten; Fiscal Year: 2016
    ..mouse models carrying mutations in cell adhesion molecules (CAMs): the neuroligin 3 R451C, neuroligin 4 null, and Cntnap2 null mice...
  7. Daniel H Geschwind; Fiscal Year: 2014
    ..in human higher cognition by virtue of their asymmetric expression or enrichment in perisylvian cortex, including CNTNAP2 and other extracellular adhesion molecules that are also related to neuropsychlatric disease...
  8. Davide Comoletti; Fiscal Year: 2015
    ..Recent genetic studies suggest that mutations of Caspr2, gene product of CNTNAP2, increase the disease risk of these common manifestations...
  9. Joel Gelernter; Fiscal Year: 2016
    ..we focused on association paradigms, and identified RGS2 as a gene that can influence anxiety phenotypes, and CNTNAP2 as a gene that can affect selective mutism risk...
  10. Investigating the role of CNTNAP2 gene in vocal learning in mutant songbirds
    Carlos Lois; Fiscal Year: 2013
    ..In recent years a number of genes, including the transcription factor FoxP2 and its target CNTNAP2, have been linked to language specific impairments and to ASD in humans, suggesting that they could play a direct ..
  11. PEYMAN GOLSHANI; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Common and rare mutations in contactin-associated protein-like 2 (CNTNAP2) are strongly linked to autism, with autosomal recessive truncating mutations resulting in autism in more than two-thirds of ..
  12. Genomic Profiling and Functional Mutation Analysis in Autism Spectrum Disorders
    MATTHEW W contact STATE; Fiscal Year: 2010
    ..Disorders," and proposes intensive genomic profiling and functional analysis of Contactin Associated Protein 2 (CNTNAP2) as well as the presynaptic cytomatrix protein Piccolo (PCLO), in an effort to clarify their roles in Autism ..
  13. Ellen J Hoffman; Fiscal Year: 2016
    ..basic mechanisms of ASD by investigating the function of the ASD risk gene, Contactin Associated Protein-2 (CNTNAP2) in neural development, and to determine how sequence variants in this gene identified in individuals with ASD ..
  14. Pharmacological fMRI to Identify New Anxiolytics: A Human Bioassay
    Murray Stein; Fiscal Year: 2008
    ..Enhancing the development of new treatments for anxiety is a public health priority. The projects proposed in this application have the potential to achieve this important aim. [unreadable] [unreadable] [unreadable]..
  15. Chemical and Genetic Modifiers of the Protein C Pathway
    David Buchner; Fiscal Year: 2007
    ..Successfully rescuing compounds can be quickly tested in human plasma coagulation assays and in vivo mouse models to determine their target and evaluate their therapeutic potential. ..
  16. Neurogenomics of Alzheimer's Disease and Aging
    Travis Dunckley; Fiscal Year: 2007
    ..In all, the partnership of leaders in the AD field, the national resources within the ADCs, and the genomics expertise at TGen should allow rapid progress in understanding the etiology of AD dementia. ..
  17. Axonal alterations in demyelinating diseases
    STEVEN SIMON SCHERER; Fiscal Year: 2011
    ..Aim #3: What Na,K-ATPase isoforms are expressed by myelinated axons and demyelinated axons? we will localize alpha1-3 by immunoelectron microscopy in CMSand PNS myelinated axons, along with their beta subunits. ..
  18. IMPROVING CARE FOR PANIC DISORDER IN PRIMARY CARE
    Murray Stein; Fiscal Year: 2002
    ..abstract_text> ..
  19. Improving Outcomes in Pharmacotherapy of Social Phobia
    Murray Stein; Fiscal Year: 2009
    ..It thus directly addresses a critical public health issue that adversely affects a substantial proportion of the population. ..
  20. 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. ..
  21. The Role of Connexin32 in the Pathogenesis of CMTX
    Steven Scherer; Fiscal Year: 2006
    ....
  22. Microarray Center for Research on the Nervous System
    Dietrich Stephan; Fiscal Year: 2004
    ..abstract_text> ..
  23. Preventing Psychiatric Sequelae of Traumatic Injury
    Murray Stein; Fiscal Year: 2003
    ..Findings will provide justification for and information about optimal parameters (e.g., subject selection; sample size; dose and duration) for a future randomized controlled trial (RCT). ..