CNTNAP2

Summary

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

Top Publications

  1. pmc Genetics and genomics of pseudoexfoliation syndrome/glaucoma
    Ursula Schlötzer-Schrehardt
    Department of Ophthalmology, University of Erlangen Nurnberg, Erlangen, Germany
    Middle East Afr J Ophthalmol 18:30-6. 2011
  2. 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
  3. 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
  4. 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
  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. 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
  7. 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
  8. 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
  9. 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
  10. 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

Research Grants

  1. Cntnap2 in a behavioral model of autism
    Stephanie Ann White; Fiscal Year: 2010
  2. iPS Cell-Derived Neurons Carrying an allelic series of CNTNAP2 structural mutatio
    MARIA contact KARAYIORGOU; Fiscal Year: 2010
  3. Genomic Profiling and Functional Mutation Analysis in Autism Spectrum Disorders
    MATTHEW W contact STATE; Fiscal Year: 2010
  4. IMPROVING CARE FOR PANIC DISORDER IN PRIMARY CARE
    Murray Stein; Fiscal Year: 2002
  5. Improving Outcomes in Pharmacotherapy of Social Phobia
    Murray Stein; Fiscal Year: 2009
  6. Genomic Imbalances in Autism
    Susan Christian; Fiscal Year: 2008
  7. The Role of Connexin32 in the Pathogenesis of CMTX
    Steven Scherer; Fiscal Year: 2006
  8. Microarray Center for Research on the Nervous System
    Dietrich Stephan; Fiscal Year: 2004
  9. Preventing Psychiatric Sequelae of Traumatic Injury
    Murray Stein; Fiscal Year: 2003
  10. Axonal alterations in demyelinating diseases
    STEVEN SIMON SCHERER; Fiscal Year: 2011

Scientific Experts

Detail Information

Publications106 found, 100 shown here

  1. pmc Genetics and genomics of pseudoexfoliation syndrome/glaucoma
    Ursula Schlötzer-Schrehardt
    Department of Ophthalmology, University of Erlangen Nurnberg, Erlangen, Germany
    Middle East Afr J Ophthalmol 18:30-6. 2011
    ..g. clusterin (CLU), contactin-associated protein-like 2 (CNTNAP2), apolipoprotein E (APOE), glutathione S-transferases (GSTs), and tumor necrosis factor-alpha (TNFA), in certain ..
  2. 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 ..
  3. 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...
  4. 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...
  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. 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 ..
  7. 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...
  8. 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...
  9. 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 ..
  10. 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 ..
  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. 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...
  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 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 ..
  15. 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...
  16. 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 ..
  17. 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...
  18. 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 ..
  19. 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...
  20. 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 ..
  21. 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...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  26. 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
    ....
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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 ..
  32. 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...
  33. 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...
  34. 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 ..
  35. 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...
  36. 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...
  37. 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 ..
  38. 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 ..
  39. 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...
  40. 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 ..
  41. 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...
  42. 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...
  43. 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...
  44. 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...
  45. 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...
  46. 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)...
  47. 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...
  48. 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...
  49. 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...
  50. 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 ..
  51. 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...
  52. 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 ..
  53. 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...
  54. 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...
  55. 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...
  56. 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.
  57. 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 ..
  58. 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...
  59. 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...
  60. pmc Clustering and activity tuning of Kv1 channels in myelinated hippocampal axons
    Chen Gu
    Department of Neuroscience and Center for Molecular Neurobiology, Ohio State University, Columbus, Ohio 43210, USA
    J Biol Chem 286:25835-47. 2011
    ..can be disrupted by deletion of various proteins in mice, including contactin-associated protein-like 2 (Caspr2) and transient axonal glycoprotein-1 (TAG-1), a glycosylphosphatidylinositol-anchored cell adhesion molecule...
  61. pmc Continuous muscle activity, Morvan's syndrome and limbic encephalitis: ionic or non ionic disorders?
    G Serratrice
    CHU Timone, Universite de la Mediterranee, Marseille, France
    Acta Myol 30:32-3. 2011
    ..Recently, antibodies previously attributed to VGKC recognise 2 surface antigens LGI1 and CASPR2 into the VGKC complex...
  62. doi Development of patient-specific neurons in schizophrenia using induced pluripotent stem cells
    Erika Pedrosa
    Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Bronx, New York 10416, USA
    J Neurogenet 25:88-103. 2011
    ..factors/chromatin remodeling proteins and synaptic proteins relevant to SZ pathogenesis, including ZNF804A, RELN, CNTNAP2, CTNNA2, SMARCA2, and NRXN1...
  63. ncbi Autoimmune encephalitis -- new awareness, challenging questions
    Sarosh R Irani
    Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9TH, United Kingdom
    Discov Med 11:449-58. 2011
    ..These include LGI1, CASPR2, contactin-2 (VGKC-complex antibodies), and the NMDA, AMPA, and GABA(B) receptors...
  64. doi Caspr2 antibodies in patients with thymomas
    Angela Vincent
    Department of Clinical Neurology, John Radcliffe Hospital, Oxford, United Kingdom
    J Thorac Oncol 5:S277-80. 2010
    ..directed against a protein that is complexed with potassium channels in both the peripheral nervous system and CNS, contactin-2 associated protein (Caspr2). These antibodies are common in the subgroup of patients with thymic malignancies.
  65. pmc Protein 4.1B contributes to the organization of peripheral myelinated axons
    Carmen Cifuentes-Diaz
    INSERM, UMR S 839, Paris, France
    PLoS ONE 6:e25043. 2011
    ..In juxtaparanodes, the enrichment of Caspr2, which also interacts with 4.1B, and of the associated TAG-1 and Kv1...
  66. doi Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, 35294, USA
    Am J Med Genet A 155:2386-96. 2011
    ..2p13.3), genes involved in synapse formation and maintenance (CNTNAP2 at 7q35 and LRFN5 at 14q21.2), and genes involved in neurotransmission (CHRNA7 at 15q13.3 and IL1RAPL1 at Xp21...
  67. doi Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia
    M Poot
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Cytogenet Genome Res 135:228-40. 2011
    ..We illustrate some of these mechanisms with a detailed analysis of recent studies of CNVs involving MCPH1, AUTS2, CNTNAP2, and mutations in GRIN2B...
  68. doi Cntnap2 expression in the cerebellum of Foxp2(R552H) mice, with a mutation related to speech-language disorder
    Eriko Fujita
    Center for Medical Science, International University of Health and Welfare, 2600 1, Kitakanemaru, Ohtawara, Tochigi, Japan
    Neurosci Lett 506:277-80. 2012
    ..A genetic connection between FOXP2 and CNTNAP2 has been demonstrated in vitro, but not in vivo...
  69. doi Morvan's syndrome associated with antibodies to multiple components of the voltage-gated potassium channel complex
    Panayiotis Loukaides
    Limassol General Hospital, Limassol, Cyprus
    J Neurol Sci 312:52-6. 2012
    ..targets using immunohistochemistry and cell-based assays revealed that he had autoantibodies targeting Lgi1, Caspr2 and Contactin-2/Tag-1, all proteins known to be complexed with VGKC in peripheral nerves and CNS...
  70. pmc Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
    Alex S Nord
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Eur J Hum Genet 19:727-31. 2011
    ..In particular, expression of CNTNAP2 and ZNF214 are decreased in probands compared with their unaffected transmitting parents...
  71. pmc Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia
    Eric Lancaster
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
    Ann Neurol 69:303-11. 2011
    To report clinical and immunological investigations of contactin-associated protein-like 2 (Caspr2), an autoantigen of encephalitis and peripheral nerve hyperexcitability (PNH) previously attributed to voltage-gated potassium channels (..
  72. doi Improving the efficiency and effectiveness of performing the diabetic foot exam
    Theodore A Praxel
    Marshfield Clinic, 1000 N Oak Ave, Marshfield, WI 54449, USA
    Am J Med Qual 26:193-9. 2011
    ..An initial review found that a comprehensive diabetic foot exam (CDFE) was documented 13.5% of the time...
  73. 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...
  74. 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...
  75. pmc ADAM22, a Kv1 channel-interacting protein, recruits membrane-associated guanylate kinases to juxtaparanodes of myelinated axons
    Yasuhiro Ogawa
    Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    J Neurosci 30:1038-48. 2010
    ..Analysis of Caspr2-, PSD-93-, PSD-95-, and double PSD-93/PSD-95-null mice showed ADAM22 clustering at BCTs requires PSD-95, but ..
  76. pmc Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines
    An De Weer
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS ONE 5:e8676. 2010
    ..This analysis lead to the delineation of two critical regions, one of 0.39 Mb on 7q35 containing the CNTNAP2 gene and one of 1.33 Mb on chromosome bands 7q35-q36 comprising nine genes in EVI1 deregulated cell lines...
  77. 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)...
  78. doi Expression of contactin associated protein-like 2 in a subset of hepatic progenitor cell compartment identified by gene expression profiling in hepatitis B virus-positive cirrhosis
    Huafeng Wang
    Department of Pathology, Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China
    Liver Int 30:126-38. 2010
    ..Hepatic progenitor cells (HPC), a cell compartment capable of differentiating into hepatocytic and biliary lineages, may give rise to the formation of intermediate hepatobiliary cells (IHBC) or ductular reactions (DR)...
  79. doi Axonal targeting of Caspr2 in hippocampal neurons via selective somatodendritic endocytosis
    Christophe Bel
    Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille, UMR 6231 CNRS, Universite de la Mediterranee Aix Marseille II, Marseille 13916, France
    J Cell Sci 122:3403-13. 2009
    Contactin-associated protein 2 (Caspr2) is a neuronal membrane protein that is mutated in autism and related disorders...
  80. 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...
  81. doi Lewis(x) and alpha2,3-sialyl glycans and their receptors TAG-1, Contactin, and L1 mediate CD24-dependent neurite outgrowth
    Annika Lieberoth
    Zentrum für Molekulare Neurobiologie, Universitatsklinikum Hamburg Eppendorf, 20246 Hamburg, Germany
    J Neurosci 29:6677-90. 2009
    ..Their cis interactions with neighboring adhesion molecules, e.g., Caspr1 and Caspr2, and with their triggered signal transduction pathways elicit cell type-specific promotion or inhibition of ..
  82. 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 ..
  83. doi Gene associated with seizures, autism, and hepatomegaly in an Amish girl
    Christopher Jackman
    Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Pediatr Neurol 40:310-3. 2009
    A genetic defect causing autism and epilepsy involving the contactin associated protein-like 2 gene (CNTNAP2) has been discovered in a selected cohort of Amish children...
  84. doi Contactin-associated protein (Caspr) 2 interacts with carboxypeptidase E in the CNS
    Shigeru Oiso
    Department of Clinical Pharmacy and Pharmacology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan
    J Neurochem 109:158-67. 2009
    ..interacting with the intracellular domain of the neural cell adhesion molecule contactin-associated protein 2 (Caspr2), yeast two-hybrid screening was performed...
  85. 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)...
  86. 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...
  87. 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.
  88. doi Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population
    Xiaoping Li
    State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, China
    Psychiatr Genet 20:113-7. 2010
    ..Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 ..
  89. 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 ..
  90. 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...
  91. pmc Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes
    Swarkar Sharma
    Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA
    Hum Mol Genet 20:1456-66. 2011
    ..We additionally found AIS associations with loci in CNTNAP2, supporting a previous study linking this gene with AIS...
  92. pmc Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
    D F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Behav Genet 41:90-104. 2011
    ..study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia...
  93. doi Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
    Line T Sehested
    Department of Pediatrics, Roskilde Hospital, Roskilde, Denmark
    Am J Med Genet A 152:3115-9. 2010
    ..Array CGH revealed a 12.2 Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest...
  94. 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 ..
  95. 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...
  96. doi A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder
    Ke Sheng Wang
    Department of Biostatistics and Epidemiology, College of Public Health, East Tennessee State University, Johnson City, TN 37614, USA
    Schizophr Res 124:192-9. 2010
    ..The third interesting SNP rs802568 was at 7q35 within CNTNAP2 (p=8.92 × 10(-4), 1.38 × 10(-5), and 1...
  97. pmc Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex
    Patrice Roll
    INSERM Unité 910, Marseille, France
    Hum Mol Genet 19:4848-60. 2010
    ..Together with recently described FOXP2-CNTNAP2 and SRPX2/uPAR links, the FOXP2-SRPX2/uPAR network provides exciting insights into molecular pathways underlying ..
  98. 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.
  99. doi The CASPR2 cell adhesion molecule functions as a tumor suppressor gene in glioma
    L B C Bralten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Oncogene 29:6138-48. 2010
    ..We identified a translocation in the contactin-associated protein-like 2 (CASPR2) gene, encoding a cell adhesion molecule...

Research Grants10

  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. 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...
  3. 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 ..
  4. IMPROVING CARE FOR PANIC DISORDER IN PRIMARY CARE
    Murray Stein; Fiscal Year: 2002
    ..abstract_text> ..
  5. 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. ..
  6. 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. ..
  7. The Role of Connexin32 in the Pathogenesis of CMTX
    Steven Scherer; Fiscal Year: 2006
    ....
  8. Microarray Center for Research on the Nervous System
    Dietrich Stephan; Fiscal Year: 2004
    ..abstract_text> ..
  9. 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). ..
  10. 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. ..