Research Articles

The articles listed here are “open access,” meaning you do not have to pay or subscribe to read them. You can find additional articles by searching for “NRXN1” and “2p16.3 deletion” on Google Scholar.

  • Dai, J., Aoto, J., & Südhof, T. C. (2019). Alternative splicing of presynaptic neurexins differentially controls postsynaptic NMDA and AMPA receptor responses. Neuron, 102(5), 993-1008. https://doi.org/10.1016/j.neuron.2019.03.032

    Fuccillo, M. V., & Pak, C. (2021). Copy number variants in neurexin genes: phenotypes and mechanisms. Current opinion in genetics & development, 68, 64-70. https://doi.org/10.1016/j.gde.2021.02.010

    Pak, C., Danko, T., Zhang, Y., Aoto, J., Anderson, G., Maxeiner, S., ... & Südhof, T. C. (2015). Human neuropsychiatric disease modeling using conditional deletion reveals synaptic transmission defects caused by heterozygous mutations in NRXN1. Cell stem cell, 17(3), 316-328. https://doi.org/10.1016/j.stem.2015.07.017

    Pak, C., Danko, T., Mirabella, V. R., Wang, J., Liu, Y., Vangipuram, M., ... & Südhof, T. C. (2021). Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons. Proceedings of the National Academy of Sciences, 118(22), e2025598118. https://doi.org/10.1073/pnas.2025598118

    Sebastian, R., Jin, K., Pavon, N. et al. Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids. Nat Commun 14, 3770 (2023). https://doi.org/10.1038/s41467-023-39420-6

    Wu, D., Zhu, J., You, L. et al. NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat. J Neurodevelop Disord 15, 6 (2023). https://doi.org/10.1186/s11689-022-09471-9

  • Cameli, C., Viggiano, M., Rochat, M. J., Maresca, A., Caporali, L., Fiorini, C., ... & Maestrini, E. (2021). An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Journal of cellular and molecular medicine, 25(5), 2459-2470. https://doi.org/10.1111/jcmm.16161

    Molloy, C. J., Cooke, J., Gatford, N. J., Rivera-Olvera, A., Avazzadeh, S., Homberg, J. R., ... & Gallagher, L. (2023). Bridging the translational gap: what can synaptopathies tell us about autism?. Frontiers in Molecular Neuroscience, 16. doi: 10.3389/fnmol.2023.1191323

  • Møller, R. S., Weber, Y. G., Klitten, L. L., Trucks, H., Muhle, H., Kunz, W. S., ... & EPICURE Consortium. (2013). Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia, 54(2), 256-264. https://doi.org/10.1111/epi.12078

  • George Kirov, Dan Rujescu, Andres Ingason, David A. Collier, Michael C. O'Donovan, Michael J. Owen, Neurexin 1 (NRXN1) Deletions in Schizophrenia, Schizophrenia Bulletin, Volume 35, Issue 5, September 2009, Pages 851–854. https://doi.org/10.1093/schbul/sbp079

    Todarello, G., Feng, N., Kolachana, B. S., Li, C., Vakkalanka, R., Bertolino, A., ... & Straub, R. E. (2014). Incomplete penetrance of NRXN1 deletions in families with schizophrenia. Schizophrenia research, 155(1-3), 1-7. https://doi.org/10.1016/j.schres.2014.02.023

  • Huang, A. Y., Yu, D., Davis, L. K., Sul, J. H., Tsetsos, F., Ramensky, V., ... & Smit, J. (2017). Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome. Neuron, 94(6), 1101-1111. https://www.cell.com/neuron/pdf/S0896-6273(17)30508-1.pdf

    Nag, A., Bochukova, E. G., Kremeyer, B., Campbell, D. D., Muller, H., Valencia-Duarte, A. V., ... & Ruiz-Linares, A. (2013). CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. Plos one, 8(3), e59061. https://doi.org/10.1371/journal.pone.0059061

  • Brignell, A., St John, M., Boys, A., Bruce, A., Dinale, C., Pigdon, L., ... & Morgan, A. T. (2018). Characterization of speech and language phenotype in children with NRXN1 deletions. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(8), 700-708. https://doi.org/10.1002/ajmg.b.32664

    Gudmundsson, O. O., Walters, G. B., Ingason, A., Johansson, S., Zayats, T., Athanasiu, L., ... & Stefansson, K. (2019). Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. Translational psychiatry, 9(1), 258. https://doi.org/10.1038/s41398-019-0599-y

    Lowther, C., Speevak, M., Armour, C. et al. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genet Med 19, 53–61 (2017). https://doi.org/10.1038/gim.2016.54

    Noh, H. J., Tang, R., Flannick, J., O’Dushlaine, C., Swofford, R., Howrigan, D., ... & Lindblad-Toh, K. (2017). Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder. Nature communications, 8(1), 774. https://doi.org/10.1038/s41467-017-00831-x

    Viñas‐Jornet, M., Esteba‐Castillo, S., Gabau, E., Ribas‐Vidal, N., Baena, N., San, J., ... & Guitart, M. (2014). A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion. Molecular genetics & genomic medicine, 2(6), 512-521. https://doi.org/10.1002/mgg3.105

  • Ching, M. S., Shen, Y., Tan, W. H., Jeste, S. S., Morrow, E. M., Chen, X., ... & Children's Hospital Boston Genotype Phenotype Study Group. (2010). Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153(4), 937-947. https://doi.org/10.1002/ajmg.b.31063

    Dabell, M. P., Rosenfeld, J. A., Bader, P., Escobar, L. F., El‐Khechen, D., Vallee, S. E., ... & Shaffer, L. G. (2013). Investigation of NRXN1 deletions: clinical and molecular characterization. American Journal of Medical Genetics Part A, 161(4), 717-731. https://doi.org/10.1002/ajmg.a.35780

    Hu, Z., Xiao, X., Zhang, Z., & Li, M. (2019). Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders. Molecular psychiatry, 24(10), 1400-1414. https://doi.org/10.1038/s41380-019-0438-9

    Schaaf, C. P., Boone, P. M., Sampath, S., Williams, C., Bader, P. I., Mueller, J. M., ... & Cheung, S. W. (2012). Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions. European Journal of Human Genetics, 20(12), 1240-1247. https://doi.org/10.1038/ejhg.2012.95

    Montalbano, S., Krebs, M.D., Rosengren, A. et al. Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology. npj Genom. Med. 9, 67 (2024). https://doi.org/10.1038/s41525-024-00450-8