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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Open accessAbstract
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.
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“the contribution of rare, de novo mutations in coding regions of the genome is relatively greater among a range of early-onset disorders 43 -45 than for typically later-onset common conditions such as schizophrenia and bipolar disorder”
From Autism spectrum disorder (2020) · cites this paper as [45]
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“To incorporate construct validity for the various genetic mutations identified in small numbers of people with autism (12–21), these mutations have been generated in mice (22, 23).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [12]
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“Rare mutations have been identified in synaptic genes, including NLGN3 , NLGN4X (ref. 4) and SHANK3 (ref. 5)”
From Functional impact of global rare copy number variation in autism spectrum disorders (2010) · cites this paper as [4]
In the citing paper
“Y chromosome genes that could contribute to sex bias in neurodevelopmental conditions include NLGN4Y, an autism candidate gene246, and SRY247, a brain-expressed gene that stimulates male gonadal development and fetal testosterone production.”
From Sex and gender in neurodevelopmental conditions (2023) · cites this paper as [246]
In the citing paper
“In addition to Shank39, it is worth noting that Shank26,8, SAPAP26, Neurexin-126, Neuroligin-3 and −427 have all been implicated in human ASDs.”
From Shank3 mutant mice display autistic-like behaviours and striatal dysfunction (2011) · cites this paper as [27]
In the citing paper
“One of these was a nonsense mutation in NLGN4X (p.Q329X), found in a single affected male child. NLGN4X is an X-linked gene encoding a neuronal synaptic adhesion molecule, and mutations in NLGN4X have been described in individuals with autism, Asperger syndrome, and intellectual disability (Jamain et al., 2003). This mutation was inherited from an unaffected mother, consistent with prior”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as Jamain et al., 2003
In the citing paper
“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [69]
In the citing paper
“the first mutations identified in idiopathic autism involve synaptic genes like NLGN3 and NLGN4X,27,28 or SHANK329-31”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [27]
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Citations
Cites
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,845
Neuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons
Scheiffele, P., Fan, J., Choih, J., Fetter, R., & Serafini, T. (2000) · Cell · doi:10.1016/s0092-8674(00)80877-6 · Cited by 1,218
Genetics of austim: complex aetiology for a heterogeneous disorder
Folstein, S. E., & Rosen-Sheidley, B. (2001) · Nature Reviews Genetics · doi:10.1038/35103559 · Cited by 771
Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses
Song, J.-Y., Ichtchenko, K., Südhof, T. C., & Brose, N. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.3.1100 · Cited by 696
Neuroligin 1: A splice site-specific ligand for β-neurexins
Ichtchenko, K., Hata, Y., Nguyen, T., Ullrich, B., Missler, M., Moomaw, C. R., & Südhof, T. C. (1995) · Cell · doi:10.1016/0092-8674(95)90396-8 · Cited by 663
Structures, Alternative Splicing, and Neurexin Binding of Multiple Neuroligins
Ichtchenko, K., Nguyen, T., & Südhof, T. C. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.5.2676 · Cited by 468
Linkage and association of the glutamate receptor 6 gene with autism
Jamain, S., Betancur, C., Quach, H., Philippe, A., Fellous, M., Giros, B., Gillberg, C., Leboyer, M., & Bourgeron, T. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4000979 · Cited by 318
Self-citationGenomic screen and follow‐up analysis for autistic disorder
Shao, Y., Wolpert, C. M., Raiford, K. L., Menold, M. M., Donnelly, S. L., Ravan, S. A., Bass, M. P., McClain, C., von Wendt, L., Vance, J. M., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10153 · Cited by 252
Auranen, M., Vanhala, R., Varilo, T., Ayers, K. L., Kempas, E., Ylisaukko‐oja, T., Sinsheimer, J. S., Peltonen, L., & Järvelä, I. E. (2002) · The American Journal of Human Genetics · doi:10.1086/342720 · Cited by 241
Chromosomal disorders and autism
Gillberg, C. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026004505764 · Cited by 237
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Items 701–800 of 1,003
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Mitjans, M., Begemann, M., Ju, A., Dere, E., Wüstefeld, L., Hofer, S., Hassouna, I. A., Balkenhol, J., Oliveira, B., der Auwera, S. V., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.213 · Cited by 47
Mary, M. G. (2005) · Frontiers in bioscience · doi:10.2741/1689 · Cited by 47
Mental health: Depression needs large human-genetics studies
Hyman, S. (2014) · Nature · doi:10.1038/515189a · Cited by 46
Kissel, L. T., & Werling, D. M. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.11.023 · Cited by 46
Doldur-Balli, F., Imamura, T., Veatch, O. J., Gong, N. N., Lim, D. C., Hart, M. P., Abel, T. G., Kayser, M. S., Brodkin, E. S., & Pack, A. I. (2022) · Sleep Medicine Reviews · doi:10.1016/j.smrv.2022.101595 · Cited by 46
Systematic autistic-like behavioral phenotyping of 4 mouse strains using a novel wheel-running assay
Karvat, G., & Kimchi, T. (2012) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.05.028 · Cited by 46
Genome-wide disruption of 5-hydroxymethylcytosine in a mouse model of autism
Papale, L. A., Zhang, Q., Li, S., Chen, K., Keleş, S., & Alisch, R. S. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv411 · Cited by 46
Chmielewska, J. J., Kuźniewska, B., Miłek, J., Urbanska, K., & Dziembowska, M. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1243-1 · Cited by 46
An opposing function of paralogs in balancing developmental synapse maturation
Favaro, P. D., Huang, X., Hosang, L., Stodieck, S. K., Cui, L., Liu, Y.-Z., Engelhardt, K.-A., Schmitz, F., Dong, Y., Löwel, S., et al. (2018) · PLoS Biology · doi:10.1371/journal.pbio.2006838 · Cited by 46
Structural insights into the exquisite selectivity of neurexin/neuroligin synaptic interactions
Leone, P., Comoletti, D., Ferracci, G., Conrod, S., Garcia, S. U., Taylor, P., Bourne, Y., & Marchot, P. (2010) · The EMBO Journal · doi:10.1038/emboj.2010.123 · Cited by 46
Mondal, K., Ramachandran, D., Patel, V. C., Hagen, K. R., Bose, P., Cutler, D. J., & Zwick, M. E. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds267 · Cited by 46
Doherty, M. J., Glass, I. A., Bennett, C. L., Cotter, P. D., Watson, N. F., Mitchell, A. L., Bird, T. D., & Farrell, D. F. (2003) · Epilepsia · doi:10.1111/j.0013-9580.2003.61702.x · Cited by 46
Chromosomal Anomalies in Individuals with Autism
Castermans, D., Wilquet, V., Steyaert, J. G., de Ven, W. V., Fryns, J., & Devriendt, K. (2004) · Autism · doi:10.1177/1362361304042719 · Cited by 46
Letter to the Editor: Do Known Mutations in Neuroligin Genes (NLGN3 and NLGN4) Cause Autism?
Talebizadeh, Z., Bittel, D. C., Veatch, O. J., Butler, M. G., Takahashi, T., Miles, J. H., & Wang, C. H. (2004) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-004-5295-x · Cited by 46
Egger, J. I. M., Zwanenburg, R. J., van Ravenswaaij‐Arts, C. M. A., Kleefstra, T., & Verhoeven, W. M. A. (2016) · Genes, Brain and Behavior · doi:10.1111/gbb.12285 · Cited by 45
Margari, L., Colonna, A., Craig, F., Gentile, M., Giannella, G., Lamanna, A. L., & Legrottaglie, A. R. (2014) · BMC Pediatrics · doi:10.1186/1471-2431-14-220 · Cited by 45
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
Uzun, E. D. G., Sciarra, L. N., Maguire, A. M., Pescosolido, M. F., van Dyck, L. I., & Morrow, E. M. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0363-9 · Cited by 45
Dissanayake, C., Bui, M., Bulhak‐Paterson, D., Huggins, R., & Loesch, D. Z. (2008) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2008.01988.x · Cited by 45
Targeted treatments in autism and fragile X syndrome
Gürkan, C. K., & Hagerman, R. J. (2012) · Research in Autism · doi:10.1016/j.rasd.2012.05.007 · Cited by 45
Cell Adhesion Molecules and Their Involvement in Autism Spectrum Disorder
Ye, H., Liu, J., & Wu, J. Y. (2010) · Neurosignals · doi:10.1159/000322543 · Cited by 45
Fujita‐Jimbo, E., Tanabe, Y., Yu, Z., Kojima, K., Mori, M., Li, H., Iwamoto, S., Yamagata, T., Momoi, M. Y., & Momoi, T. (2015) · Molecular Autism · doi:10.1186/s13229-015-0012-5 · Cited by 45
Organization of central synapses by adhesion molecules
Tallafuß, A., Constable, J. R. L., & Washbourne, P. (2010) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2010.07340.x · Cited by 45
Luo, J. K., Norris, R. H. C., Gordon, S. L., & Nithianantharajah, J. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.001 · Cited by 45
Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients
Xu, X., Xiong, Z., Zhang, L., Liu, Y., Lu, L., Peng, Y., Guo, H., Zhao, J., Xia, K., & Hu, Z. (2014) · Molecular Biology Reports · doi:10.1007/s11033-014-3284-5 · Cited by 45
Kroon, T., Sierksma, M. C., & Meredith, R. M. (2013) · Frontiers in Systems Neuroscience · doi:10.3389/fnsys.2013.00075 · Cited by 45
Hoffman, R. C., Jennings, L. L., Tsigelny, I. F., Comoletti, D., Flynn, R. E., Südhof, T. C., & Taylor, P. (2004) · Biochemistry · doi:10.1021/bi035278t · Cited by 45
Cao, F., Yin, A., Wen, G. Y., Sheikh, A. M., Tauqeer, Z., Malik, M. N., Nagori, A., Schirripa, M., Schirripa, F. V., Merz, G., et al. (2012) · Journal of Neuroinflammation · doi:10.1186/1742-2094-9-223 · Cited by 44
RetractedSynaptic Dysfunction and Intellectual Disability
Valnegri, P., Sala, C., & Passafaro, M. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-3-7091-0932-8_19 · Cited by 44
Soueid, J., Kourtian, S., Makhoul, N. J., Makoukji, J., El-Haddad, S., Ghanem, S. S., Kobeissy, F. H., & Boustany, R. (2016) · Scientific Reports · doi:10.1038/srep19088 · Cited by 44
Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders
Kim, K. C., Gonzales, E. L., Lázaro, M. T., Choi, C. S., Bahn, G. H., Yoo, H. J., & Shin, C. Y. (2016) · Biomolecules & Therapeutics · doi:10.4062/biomolther.2016.061 · Cited by 44
Xing, G., Li, M., Sun, Y., Rui, M., Zhuang, Y., Lv, H., Han, J., Jia, Z., & Xie, W. (2018) · eLife · doi:10.7554/elife.30457 · Cited by 44
Baseline mRNA expression differs widely between common laboratory strains of zebrafish
Holden, L. A., & Brown, K. H. (2018) · Scientific Reports · doi:10.1038/s41598-018-23129-4 · Cited by 44
Monogenic heritable autism gene neuroligin impacts Drosophila social behaviour
Hahn, N., Geurten, B. R. H., Gurvich, A., Piepenbrock, D., Kästner, A., Zanini, D., Xing, G., Xie, W., Göpfert, M. C., Ehrenreich, H., et al. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2013.06.020 · Cited by 44
Neuroligin Trafficking Deficiencies Arising from Mutations in the α/β-Hydrolase Fold Protein Family
Jaco, A. D., Lin, M. Z., Dubi, N., Comoletti, D., Miller, M. T., Camp, S., Ellisman, M. H., Butko, M. T., Tsien, R. Y., & Taylor, P. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.139519 · Cited by 44
Crystal structure of the extracellular cholinesterase-like domain from neuroligin-2
Koehnke, J., Jin, X., Budreck, E. C., Posy, S., Scheiffele, P., Honig, B. H., & Shapiro, L. S. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711701105 · Cited by 44
Can Autism Speak to Neuroscience?
Moldin, S. O., Rubenstein, J. L. R., & Hyman, S. E. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.1944-06.2006 · Cited by 44
Regulation of Neurexin 1β Tertiary Structure and Ligand Binding through Alternative Splicing
Shen, K. C., Kuczynska, D. A., Wu, I. J., Murray, B. H., Sheckler, L. R., & Rudenko, G. (2008) · Structure · doi:10.1016/j.str.2008.01.005 · Cited by 44
First-degree relatives of young children with autism spectrum disorders: Some gender aspects
Eriksson, M. A., Westerlund, J., Anderlid, B. M., Gillberg, C., & Fernell, E. (2012) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2012.03.025 · Cited by 43
Self-citationLiu, Y., Du, Y., Liu, W., Yang, C., Liú, Y., Wang, H., & Gong, X. (2013) · PLoS ONE · doi:10.1371/journal.pone.0056639 · Cited by 43
The genetics of Tourette disorder
State, M. W. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.007 · Cited by 43
Using genetic findings in autism for the development of new pharmaceutical compounds
Vorstman, J. A. S., Spooren, W. P. J. M., Persico, A. M., Collier, D. A., Aigner, S., Jagasia, R., Glennon, J. C., & Buitelaar, J. K. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3334-z · Cited by 43
Neuroligins Are Selectively Essential for NMDAR Signaling in Cerebellar Stellate Interneurons
Zhang, B., & Südhof, T. C. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.1356-16.2016 · Cited by 43
Song, B., Morse, D., Song, Y., Fu, Y., Lin, X., Wang, W., Cheng, S., Chen, W., Liu, X., & Lin, S. (2017) · Genome Biology and Evolution · doi:10.1093/gbe/evx144 · Cited by 43
Neuroligin-1 in brain and CSF of neurodegenerative disorders: investigation for synaptic biomarkers
Camporesi, E., Lashley, T., Gobom, J., Lantero‐Rodriguez, J., Hansson, O., Zetterberg, H., Blennow, K., & Becker, B. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01119-4 · Cited by 43
Philippi, A., Torès, F., Carayol, J., Rousseau, F., Letexier, M., Roschmann, E., Lindenbaum, P., Benajou, A., Fontaine, K., Vazart, C., et al. (2007) · BMC Medical Genetics · doi:10.1186/1471-2350-8-74 · Cited by 43
Perinatal Influences of Valproate on Brain and Behaviour: An Animal Model for Autism
Ranger, P., & Ellenbroek, B. A. (2015) · Current topics in behavioral neurosciences · doi:10.1007/7854_2015_404 · Cited by 43
Lawford‐Smith, H. (2015) · Journal of Social Ontology · doi:10.1515/jso-2015-0008 · Cited by 44
Jung, S., & Park, M. (2022) · Pharmacological Research · doi:10.1016/j.phrs.2022.106340 · Cited by 42
The Role of Zinc and NMDA Receptors in Autism Spectrum Disorders
Lee, K. C., Mills, Z., Cheung, P. Y., Cheyne, J. E., & Montgomery, J. M. (2022) · Pharmaceuticals · doi:10.3390/ph16010001 · Cited by 42
Hill, M. N., Haney, M., Hillard, C. J., Karhson, D. S., & Vecchiarelli, H. A. (2023) · Psychological Medicine · doi:10.1017/s0033291723002465 · Cited by 42
Proctor, D. T., Stotz, S. C., Scott, L. O. M., de la Hoz, C. L. R., Poon, K. W. C., Stys, P. K., & Colicos, M. A. (2015) · Glia · doi:10.1002/glia.22875 · Cited by 42
Desarkar, P., Rajji, T. K., Ameis, S. H., & Daskalakis, Z. J. (2015) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2015.00124 · Cited by 42
Werling, D. M., Lowe, J. K., Luo, R., Cantor, R. M., & Geschwind, D. H. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-13 · Cited by 42
Addressing the Genetics of Human Mental Health Disorders in Model Organisms
McCammon, J. M., & Sive, H. L. (2015) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090314-050048 · Cited by 42
Genes and sex hormones interaction in neurodevelopmental disorders
Romano, E., Cosentino, L., Laviola, G., & Filippis, B. D. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.02.019 · Cited by 42
Zhang, B., Gökçe, Ö., Hale, W. D., Brose, N., & Südhof, T. C. (2018) · The Journal of Experimental Medicine · doi:10.1084/jem.20172162 · Cited by 42
Brown, E., Lautz, J. D., Davis, T. R., Gniffke, E. P., VanSchoiack, A., Neier, S. C., Tashbook, N., Nicolini, C., Fahnestock, M. L., Schrum, A. G., et al. (2018) · Molecular Autism · doi:10.1186/s13229-018-0229-1 · Cited by 42
Chen, Y., Chang, Y., & Huang, Y. (2018) · Developmental Neurobiology · doi:10.1002/dneu.22653 · Cited by 42
Lai, S., Nakayama, H., Miyazaki, T., Nakazawa, T., Tabuchi, K., Hashimoto, K., Watanabe, M., & Kano, M. (2021) · Frontiers in Neural Circuits · doi:10.3389/fncir.2021.676891 · Cited by 42
Knickmeyer, R. C., & Davenport, M. L. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9089-0 · Cited by 42
The role of cell adhesion molecules in brain wiring and neuropsychiatric disorders
Sakurai, T. (2016) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2016.08.005 · Cited by 42
Dobek, W. A., Kim, H., Walls, C. A., Chorich, L. P., Tho, S. P. T., Wang, Z., McDonough, P. G., & Layman, L. C. (2015) · Molecular Cytogenetics · doi:10.1186/s13039-015-0112-0 · Cited by 41
Neuroligin-1 Loss Is Associated with Reduced Tenacity of Excitatory Synapses
Zeidan, A., & Ziv, N. E. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042314 · Cited by 41
Addington, A. M., & Rapoport, J. L. (2011) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02478.x · Cited by 41
Baig, D. N., Yanagawa, T., & Tabuchi, K. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.10.006 · Cited by 41
Sexual partner preference in animals and humans
Balthazart, J. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.03.024 · Cited by 41
Schwartzer, J. J., Koenig, C. M., & Berman, R. F. (2012) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2012.08.007 · Cited by 41
Maternal transmission disequilibrium of the glutamate receptor GRIK2 in schizophrenia
Bah, J., Quach, H., Ebstein, R. P., Segman, R. H., Melke, J., Jamain, S., Rietschel, M., Modai, I., Kanas, K., Karni, O., et al. (2004) · Neuroreport · doi:10.1097/00001756-200408260-00031 · Cited by 41
Self-citationAnalysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes
Rabionet, R., Jaworski, J. M., Ashley‐Koch, A. E., Martin, E. R., Sutcliffe, J. S., Haines, J. L., DeLong, G. R., Abramson, R. K., Wright, H. H., Cuccaro, M. L., et al. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.09.037 · Cited by 41
The autism diagnosis in translation: shared affect in children and mouse models of ASD
Bishop, S. L., & Lahvis, G. P. (2011) · Autism Research · doi:10.1002/aur.216 · Cited by 40
Kantojärvi, K., Onkamo, P., Vanhala, R., Alen, R., Hedman, M., Sajantila, A., Nieminen-von Wendt, T., & Järvelä, I. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a2080 · Cited by 40
O’Connor, E. C., Bariselli, S., & Bellone, C. (2014) · European Journal of Neuroscience · doi:10.1111/ejn.12510 · Cited by 40
Trent, S., Dean, R., Veit, B., Cassano, T., Bedse, G., Ojarikre, O. A., Humby, T., & Davies, W. (2012) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2012.12.002 · Cited by 40
Chen, C., Lee, P.-W., Liao, H., & Chang, P.-K. (2017) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2017.00257 · Cited by 40
Medina, M. A., Andrade, V., Caracci, M. O., Ávila, M. E., Verdugo, D. A., Vargas, M. F., Ugarte, G. D., Reyes, A. E., Opazo, C., & Ferrari, G. V. D. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0093-y · Cited by 40
Emerging themes in GABAergic synapse development
Kuzirian, M. S., & Paradis, S. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.07.002 · Cited by 40
Lonardo, F., Parenti, G., Luquetti, D. V., Annunziata, I., Monica, M. D., Perone, L., Gregori, M. D., Zuffardi, O., Brunetti‐Pierri, N., Andria, G., et al. (2007) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2007.04.005 · Cited by 40
Role of drebrin A in dendritic spine plasticity and synaptic function
Ivanov, A., Esclapez, M., & Ferhat, L. (2009) · Communicative & Integrative Biology · doi:10.4161/cib.2.3.8166 · Cited by 40
Yu, J., He, X., Yao, D., Li, Z., Li, H., & Zhao, Z. (2011) · Behavioral and Brain Functions · doi:10.1186/1744-9081-7-13 · Cited by 40
The role of GABAergic system in neurodevelopmental disorders: a focus on autism and epilepsy.
Sgadó, P., Dunleavy, M., Genovesi, S., Provenzano, G., & Bozzi, Y. (2011) · PubMed Central · Cited by 40
Bouvrais‐Veret, C., Weiss, S., Hanoun, N., Andrieux, A., Schweitzer, A., Job, D., Hamon, M., Giros, B., & Martres, M. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.05025.x · Cited by 40
Self-citationModeling dopamine dysfunction in autism spectrum disorder: from invertebrates to vertebrates
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Yasuda, Y., Hashimoto, R., Yamamori, H., Ohi, K., Fukumoto, M., Umeda‐Yano, S., Mohri, I., Itô, A., Taniike, M., & Takeda, M. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-9 · Cited by 39
Cellot, G., & Cherubini, E. (2014) · Physiological Reports · doi:10.14814/phy2.12077 · Cited by 38
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Yang, F., You, H., Mizui, T., Ishikawa, Y., Takao, K., Miyakawa, T., Li, X., Bai, T., Xia, K., Zhang, L., et al. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02595-5 · Cited by 38
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Camacho-Garcia, R. J., Planelles, M. I., Margalef-Català, M., Pecero, M. L., Martínez‐Leal, R., Aguilera, F., Vilella, E., Martínez-Mir, A., & Scholl, F. G. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.03.031 · Cited by 38
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Rodrigo‐Nicolás, B., Bueno‐Martínez, E., Martin‐Santiago, A., Cañueto, J., Vicente, A., Torrelo, A., Noguera‐Morel, L., Rodríguez, A. D., Jorge‐Finnigan, C., Palacios‐Álvarez, I., et al. (2018) · British Journal of Dermatology · doi:10.1111/bjd.16826 · Cited by 38
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Metadata
- Authors
- Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C., & Bourgeron, T.
- Affiliations
- Inserm (FR)
- University of Gothenburg (SE)
- St George's Hospital (GB)
- Corresponding author
- Bourgeron, Thomas
- ORCID
- Venue
- Nature Genetics
- Published
- 2003-03-31
- Volume
- 34
- Issue
- 1
- Pages
- 27-29
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC1925054
- OpenAlex
- W2125147395
- Cited by
- 1,851
- References
- 18
- Citations by year
- 2026: 32 · 2025: 36 · 2024: 47 · 2023: 60 · 2022: 79 · 2021: 80 · 2020: 78 · 2019: 55 · 2018: 75 · 2017: 94 · 2016: 82 · 2015: 99 · 2014: 97 · 2013: 114 · 2012: 131
- FWCI
- 30.13
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Orange
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- autism spectrum disorder, neuroligin-3, neuroligin 4, X-linked mutations, X-linked inheritance, siblings, synaptogenesis, synapses, adhesion molecules, genetic etiology of autism
- MeSH terms
- Amino Acid Sequence, Autistic Disorder, Base Sequence, Brain, Carrier Proteins, Female, Humans, Genetic Linkage, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, RNA, Messenger, Cell Adhesion Molecules, Neuronal, Sequence Homology, Amino Acid, DNA, Complementary, Gene Expression Profiling, Chromosomes, Human, X
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