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Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities
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The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual disabilities has greatly informed our understanding of the molecular pathways critical for normal synaptic function. The top-down approaches using human phenotypes and genetics helped identify causative genes and uncovered the broad spectrum of neuropsychiatric features that can result from various mutations in the same gene. Importantly, the human studies unveiled the exquisite sensitivity of cognitive function to precise levels of many diverse proteins. Bottom-up approaches applying molecular, biochemical, and neurophysiological studies to genetic models of these disorders revealed unsuspected pathogenic mechanisms and identified potential therapeutic targets. Moreover, studies in model organisms showed that symptoms of these devastating disorders can be reversed, which brings hope that affected individuals might benefit from interventions even after symptoms set in. Scientists predict that insights gained from studying these rare syndromic disorders will have an impact on the more common nonsyndromic autism and mild cognitive deficits.
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“Not surprisingly, neurotransmitter and synaptic pathways were implicated in multiple brain disorders, supporting decades of studies highlighting the importance of synaptic function in psychiatric disorders19.”
From A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles (2020) · cites this paper as [19]
In the citing paper
“In some cases, the mutations are limited to a specific gene and result in syndromic neurodevelopmental disorders with highly penetrant features of autism. These include Fragile X syndrome, tuberous sclerosis complex, Angelman syndrome, Timothy syndrome and Rett syndrome2.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [2]
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“Consistently, increased spine density is observed in frontal, temporal, and parietal lobes in ASD brains (Hutsler and Zhang, 2010) and changes in synaptic structure are detected in multiple ASD model mice (Zoghbi and Bear, 2012).”
From Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits (2014) · cites this paper as Zoghbi and Bear, 2012
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Cites
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,951
(1943) · The Nervous child · Cited by 8,870
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Nan, X., Ng, H.-H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., & Bird, A. (1998) · Nature · doi:10.1038/30764 · Cited by 3,440
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
Jones, P. L., Veenstra, G. J. C., Wade, P. A., Vermaak, D., Kass, S. U., Landsberger, N., Strouboulis, J., & Wolffe, A. P. (1998) · Nature Genetics · doi:10.1038/561 · Cited by 2,791
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., & Charman, T. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69041-7 · Cited by 2,104
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
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Items 101–200 of 796
Michaelson, S. D., Ozkan, E. D., Aceti, M., Maity, S., Llamosas, N., Weldon, M., Mizrachi, E., Vaissière, T., Gaffield, M. A., Christie, J. M., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0268-0 · Cited by 113
Lü, H., Ash, R. T., He, L.-J., Kee, S. E., Wang, W., Yu, D., Hao, S., Meng, X., Ure, K., Ito, A., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.07.018 · Cited by 108
Self-citationIntegrin activity in neuronal connectivity
Lilja, J., & Ivaska, J. (2018) · Journal of Cell Science · doi:10.1242/jcs.212803 · Cited by 107
Dere, E., Dahm, L., Lu, D. S., Hammerschmidt, K., Ju, A., Tantra, M., Kästner, A., Chowdhury, K., & Ehrenreich, H. (2014) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2014.00181 · Cited by 107
He, L.-J., Liu, N., Cheng, T.-L., Chen, X.-J., Li, Y.-D., Shu, Y.-S., Qiu, Z.-L., & Zhang, X.-H. (2014) · Nature Communications · doi:10.1038/ncomms6036 · Cited by 107
You, J. C., Muralidharan, K., Park, J. W., Petrof, I., Pyfer, M. S., Corbett, B. F., LaFrancois, J. J., Zheng, Y., Zhang, X., Mohila, C., et al. (2017) · Nature Medicine · doi:10.1038/nm.4413 · Cited by 102
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder
Banerjee, A., Miller, M. T., Li, K., Sur, M., & Kaufmann, W. E. (2018) · Brain · doi:10.1093/brain/awy323 · Cited by 115
Mossink, B., van Rhijn, J.-R., Wang, S., Linda, K., Vitale, M. R., Zöller, J. E. M., van Hugte, E., Bak, J., Verboven, A. H. A., Selten, M. M., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01117-x · Cited by 109
Samsam, M. (2014) · World Journal of Gastroenterology · doi:10.3748/wjg.v20.i29.9942 · Cited by 113
Revisiting the Relationship Between Autism and Schizophrenia: Toward an Integrated Neurobiology
de Lacy, N., & King, B. H. (2013) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-050212-185627 · Cited by 105
Borck, G., Hög, F., Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F. R., et al. (2015) · Genome Research · doi:10.1101/gr.176925.114 · Cited by 108
Hacohen-Kleiman, G., Sragovich, S., Karmon, G., Gao, A. Y. L., Grigg, I., Pasmanik‐Chor, M., Le, A., Korenková, V., McKinney, R. A., & Gozes, I. (2018) · Journal of Clinical Investigation · doi:10.1172/jci98199 · Cited by 98
Thomas, A. C., Williams, H. J., Setó‐Salvia, N., Bacchelli, C., Jenkins, D., O’Sullivan, M. E., Mengrelis, K., Ishida, M., Ocaka, L., Chanudet, E., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.10.007 · Cited by 105
Eltokhi, A., Janmaat, I. E., Genedi, M., Haarman, B. C. M., & Sommer, I. E. (2020) · Journal of Neuroscience Research · doi:10.1002/jnr.24616 · Cited by 102
Contactins in the neurobiology of autism
Zuko, A., Kleijer, K. T. E., Oguro‐Ando, A., Kas, M. J., van Daalen, E., van der Zwaag, B., & Burbach, J. P. H. (2013) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2013.07.016 · Cited by 107
Bal‐Price, A., Lein, P. J., Keil, K. P., Sethi, S., Shafer, T. J., Barenys, M., Fritsche, E., Sachana, M., & Meek, M. E. (2016) · NeuroToxicology · doi:10.1016/j.neuro.2016.05.010 · Cited by 100
Fossati, M., Assendorp, N., Gemin, O., Colasse, S., Dingli, F., Arras, G., Loew, D., & Charrier, C. (2019) · Neuron · doi:10.1016/j.neuron.2019.09.027 · Cited by 102
Michelini, G., Carlisi, C. O., Eaton, N. R., Elison, J. T., Haltigan, J. D., Kotov, R., Krueger, R. F., Latzman, R. D., Li, J. J., Levin-Aspenson, H. F., et al. (2024) · World Psychiatry · doi:10.1002/wps.21225 · Cited by 109
Autism Spectrum Disorders: Translating human deficits into mouse behavior
Pasciuto, E., Borrie, S. C., Kanellopoulos, A. K., Santos, A. R. S., Cappuyns, E., D’Andrea, L., Pacini, L., & Bagni, C. (2015) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2015.07.013 · Cited by 103
Excessive D1 Dopamine Receptor Activation in the Dorsal Striatum Promotes Autistic-Like Behaviors
Lee, Y., Kim, H., Kim, J., Park, J. Y., Choi, J., Lee, J. E., Lee, E. H., & Han, P. (2017) · Molecular Neurobiology · doi:10.1007/s12035-017-0770-5 · Cited by 89
Creson, T. K., Rojas, C., Hwaun, E., Vaissière, T., Kılınç, M., Jiménez-Gómez, A., Holder, J. L., Tang, J., Colgin, L. L., Miller, C. A., et al. (2019) · eLife · doi:10.7554/elife.46752 · Cited by 90
Plasticity of dendritic spines: Molecular function and dysfunction in neurodevelopmental disorders
Nishiyama, J. (2019) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.12899 · Cited by 96
McCabe, M. P., Cullen, E. R., Barrows, C. M. L., Shore, A. N., Tooke, K. I., Laprade, K. A., Stafford, J. M., & Weston, M. C. (2020) · eLife · doi:10.7554/elife.51440 · Cited by 100
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling
Baker, K., Gordon, S. L., Grozeva, D., van Kogelenberg, M., Roberts, N. Y., Pike, M. G., Blair, E. M., Hurles, M. E., Chong, W. K., Baldeweg, T., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci79765 · Cited by 94
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons
Lin, Y., Frei, J. A., Kilander, M. B. C., Shen, W., & Blatt, G. J. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00263 · Cited by 97
Nguyen, L. S., Fregeac, J., Bole-Feysot, C., Cagnard, N., Iyer, A., Anink, J., Aronica, E., Alibeu, O., Nitschke, P., & Colleaux, L. (2018) · Molecular Autism · doi:10.1186/s13229-018-0219-3 · Cited by 85
Leo Kanner and autism: a 75-year perspective
Harris, J. C. (2018) · International Review of Psychiatry · doi:10.1080/09540261.2018.1455646 · Cited by 122
The genetic landscape of autism spectrum disorders
Rosti, R. Ö., Sadek, A. A., Vaux, K. K., & Gleeson, J. G. (2013) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12278 · Cited by 95
Dysregulation of astrocyte extracellular signaling in Costello syndrome
Krencik, R., Hokanson, K. C., Narayan, A. R., Dvornik, J., Rooney, G. E., Rauen, K. A., Weiss, L. A., Rowitch, D. H., & Ullian, E. M. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aaa5645 · Cited by 86
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Ko, J., Choii, G., & Um, J. W. (2015) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2015.01.004 · Cited by 90
Doll, C. A., & Broadie, K. S. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00030 · Cited by 86
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Caracci, M. O., Ávila, M. E., Espinoza-Cavieres, F. A., López, H. R., Ugarte, G. D., & Ferrari, G. V. D. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.764756 · Cited by 86
Ghatak, S., Talantova, M. V., McKercher, S. R., & Lipton, S. A. (2020) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-032320-015420 · Cited by 90
Deregulation of synaptic plasticity in autism
Hansel, C. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.02.003 · Cited by 90
Cochoy, D. M., Kolevzon, A. L., Kajiwara, Y., Schoen, M., Pascual‐Lucas, M., Lurie, S., Buxbaum, J. D., Boeckers, T. M., & Schmeißer, M. J. (2015) · Molecular Autism · doi:10.1186/s13229-015-0020-5 · Cited by 89
Lippi, G., Fernandes, C., Ewell, L. A., John, D., Romoli, B., Curia, G., Taylor, S. R., Frady, E. P., Jensen, A. B., Liu, J. C., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.11.017 · Cited by 91
Damiani, F., Cornuti, S., & Tognini, P. (2023) · Neuropharmacology · doi:10.1016/j.neuropharm.2023.109491 · Cited by 95
Cheng, C., Lau, S. K. M., & Doering, L. C. (2016) · Molecular Brain · doi:10.1186/s13041-016-0256-9 · Cited by 84
Adenomatous polyposis coli protein deletion leads to cognitive and autism-like disabilities
Mohn, J. L., Alexander, J., Pirone, A., Palka, C., Lee, S.-Y., Mebane, L. M., Haydon, P. G., & Jacob, M. H. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.61 · Cited by 83
EphBs and ephrin-Bs: Trans-synaptic organizers of synapse development and function
Henderson, N. T., & Dalva, M. B. (2018) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2018.07.002 · Cited by 84
A cross-species proteomic map reveals neoteny of human synapse development
Wang, L., Pang, K., Zhou, L., Cebrián-Silla, A., González-Granero, S., Wang, S., Bi, Q., White, M. L., Ho, B., Li, J., et al. (2023) · Nature · doi:10.1038/s41586-023-06542-2 · Cited by 82
A cross-species proteomic map reveals neoteny of human synapse development
Wang, L., Pang, K., Zhou, L., Cebrián-Silla, A., González-Granero, S., Wang, S., Bi, Q., White, M. L., Ho, B., Li, J., et al. (2022) · doi:10.1101/2022.10.24.513541 · Cited by 82
Modulation of synaptic plasticity by exercise
Bettio, L. E. B., Thacker, J. S., Hutton, C. P., & Christie, B. R. (2019) · International review of neurobiology · doi:10.1016/bs.irn.2019.07.002 · Cited by 87
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Gokoolparsadh, A., Anwar, F., & Voineagu, I. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.07.029 · Cited by 79
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van den Heuvel, M. P., Scholtens, L. H., & Kahn, R. S. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.05.015 · Cited by 79
Giovedì, S., Corradi, A. M., Fassio, A., & Benfenati, F. (2014) · Frontiers in Pediatrics · doi:10.3389/fped.2014.00094 · Cited by 85
E3 Ubiquitin Ligases Neurobiological Mechanisms: Development to Degeneration
Upadhyay, A., Joshi, V., Amanullah, A., Mishra, R., Arora, N., Prasad, A., & Mishra, A. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00151 · Cited by 80
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Bey, A. L., & Jiang, Y. (2014) · Current Protocols in Pharmacology · doi:10.1002/0471141755.ph0566s66 · Cited by 85
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Jürgensen, S., & Castillo, P. E. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.1666-15.2015 · Cited by 76
Copy number variants in autism spectrum disorders
Vicari, S., Napoli, E., Cordeddu, V., Menghini, D., Alesi, V., Loddo, S., Novelli, A., & Tartaglia, M. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2019.02.012 · Cited by 77
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Parekh, P. K., & McClung, C. A. (2016) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2015.00187 · Cited by 78
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Agarwal, M., Johnston, M. V., & Stafstrom, C. E. (2019) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2019.08.003 · Cited by 79
Gąssowska-Dobrowolska, M., Cieślik, M., Czapski, G. A., Jęśko, H. M., Frontczak‐Baniewicz, M., Gewartowska, M., Dominiak, A., Polowy, R., Filipkowski, R. K., Babiec, L., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21103576 · Cited by 78
Mottron, L., Belleville, S., Rouleau, G. A., & Collignon, O. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.07.012 · Cited by 85
Neurobiology of autism gene products: towards pathogenesis and drug targets
Kleijer, K. T. E., Schmeißer, M. J., Krueger‐Burg, D., Boeckers, T. M., Scheiffele, P., Bourgeron, T., Brose, N., & Burbach, J. P. H. (2014) · Psychopharmacology · doi:10.1007/s00213-013-3403-3 · Cited by 80
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Knafo, S., & Esteban, J. A. (2017) · Trends in Neurosciences · doi:10.1016/j.tins.2016.11.008 · Cited by 79
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Caracci, M. O., Ávila, M. E., & Ferrari, G. V. D. (2016) · Neural Plasticity · doi:10.1155/2016/9603751 · Cited by 78
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Ghimire, S., Subedi, L., Acharya, N., & Gaire, B. P. (2021) · Journal of Agricultural and Food Chemistry · doi:10.1021/acs.jafc.1c04581 · Cited by 80
Welch, C. J., & Mulligan, K. A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23052894 · Cited by 76
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Huang, W., Guenthner, C. J., Xu, J., Nguyen, T., Schwarz, L. A., Wilkinson, A. W., Gozani, O., Chang, H. Y., Shamloo, M., & Luo, L. (2016) · Neuron · doi:10.1016/j.neuron.2016.09.019 · Cited by 74
Horn, M. E., & Nicoll, R. A. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1719523115 · Cited by 75
Chung, C., Ha, S., Kang, H., Lee, J., Um, S. M., Yan, H., Yoo, Y.-E., Yoo, T., Jung, H., Lee, D., et al. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.09.025 · Cited by 75
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Lutz, A.-K., Pfaender, S., Incearap, B., Ioannidis, V., Ottonelli, I., Föhr, K. J., Cammerer, J., Zoller, M., Higelin, J., Giona, F., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aaz3267 · Cited by 75
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Subramanian, M. P., Timmerman, C., Schwartz, J. L., Pham, D. L., & Meffert, M. K. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00313 · Cited by 71
Martin, E. A., Muralidhar, S., Wang, Z., Cervantes, D. C., Basu, R., Taylor, M. R., Hunter, J., Cutforth, T., Wilke, S. A., Ghosh, A., et al. (2015) · eLife · doi:10.7554/elife.09395 · Cited by 73
Zhang, K., Fang, Y., Zhu, J. K., Han, S., Chen, J., Wu, X., Chen, Y., Shen, T., Liao, J., Guo, W., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.03.085 · Cited by 70
McDiarmid, T. A., Belmadani, M., Liang, J., Meili, F., Mathews, E., Mullen, G. P., Hendi, A., Wong, W.-R., Rand, J. B., Mizumoto, K., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1912049116 · Cited by 69
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Panesar, H. K., Kennedy, C., Keil, K. P., & Lein, P. J. (2020) · Toxics · doi:10.3390/toxics8030070 · Cited by 72
Pizzo, R., Gurgone, A., Castroflorio, E., Amendola, E., Gross, C. T., Sassoé‐Pognetto, M., & Giustetto, M. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00261 · Cited by 75
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Torres, V. I., Vallejo, D., & Inestrosa, N. C. (2017) · Neural Plasticity · doi:10.1155/2017/8081758 · Cited by 71
Yennawar, M., White, R. S., & Jensen, F. E. (2019) · Journal of Neuroscience · doi:10.1523/jneurosci.2041-18.2019 · Cited by 71
Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD
Kim, D.-S., Ross, P. J., Zaslavsky, K., & Ellis, J. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00109 · Cited by 70
Voineagu, I., & Eapen, V. (2013) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2013.00738 · Cited by 74
Altered dendritic spine function and integration in a mouse model of fragile X syndrome
Booker, S. A., Domanski, A. P. F., Dando, O., Jackson, A. D., Isaac, J. T. R., Hardingham, G. E., Wyllie, D. J. A., & Kind, P. C. (2019) · Nature Communications · doi:10.1038/s41467-019-11891-6 · Cited by 70
Liu, S., Zhou, L., Yuan, H., Vieira, M., Sanz-Clemente, A., Badger, J. D., Lu, W., Traynelis, S. F., & Roche, K. W. (2017) · The Journal of Neuroscience · doi:10.1523/jneurosci.0827-16.2017 · Cited by 69
Defining the role of anti- and pro-inflammatory outcomes of Interleukin-6 in mental health.
García-Juárez, M. G., & Camacho-Morales, A. (2022) · Neuroscience · doi:10.1016/j.neuroscience.2022.03.020 · Cited by 61
Qiu, S., Lu, Z., & Levitt, P. R. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.2580-14.2014 · Cited by 81
Morimura, N., Yasuda, H., Yamaguchi, K., Katayama, K.-I., Hatayama, M., Tomioka, N. H., Odagawa, M., Kamiya, A., Iwayama, Y., Maekawa, M., et al. (2017) · Nature Communications · doi:10.1038/ncomms15800 · Cited by 73
Verma, V., Paul, A., Vishwanath, A. A., Vaidya, B., & Clement, J. P. (2019) · Open Biology · doi:10.1098/rsob.180265 · Cited by 68
Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing
Yang, R., Feng, X., Arias‐Cavieres, A., Mitchell, R. M., Polo, A., Hu, K., Zhong, R., Qi, C., Zhang, R. S., Westneat, N., et al. (2023) · Neuron · doi:10.1016/j.neuron.2023.02.021 · Cited by 66
Zhu, J., Lee, K. Y., Jewett, K. A., Man, H., Chung, H. J., & Tsai, N. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006634 · Cited by 67
Talbot, Z. N., Sparks, F. T., Dvořák, D., Curran, B. M., Alarcón, J. M., & Fenton, A. A. (2018) · Neuron · doi:10.1016/j.neuron.2017.12.043 · Cited by 70
Autism spectrum disorder: prospects for treatment using gene therapy
Benger, M., Kinali, M., & Mazarakis, N. D. (2018) · Molecular Autism · doi:10.1186/s13229-018-0222-8 · Cited by 67
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Metadata
- Authors
- Zoghbi, H. Y., & Bear, M. F.
- Affiliations
- Howard Hughes Medical Institute (US)
- Venue
- Cold Spring Harbor Perspectives in Biology
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2012-01-18
- Volume
- 4
- Issue
- 3
- Pages
- a009886-a009886
- ISSN
- 1943-0264 (ISSN-L)
- PMC
- PMC3282414
- OpenAlex
- W2147140183
- Cited by
- 797
- References
- 268
- Citations by year
- 2026: 40 · 2025: 44 · 2024: 59 · 2023: 50 · 2022: 53 · 2021: 75 · 2020: 87 · 2019: 66 · 2018: 52 · 2017: 61 · 2016: 66 · 2015: 49 · 2014: 46 · 2013: 32 · 2012: 15
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Cold Spring Harbor Perspectives in Biology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- 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
- synaptic dysfunction, neurodevelopmental disorders, autism spectrum disorder, intellectual disability, syndromic autism, genetic causes of autism, neuropsychiatric features, cognitive function, genetic models, model organisms, therapeutic target
- MeSH terms
- Animals, Child, Child Development Disorders, Pervasive, Disease Models, Animal, Gene Expression Regulation, Humans, Intellectual Disability, Synaptic Transmission, Cell Adhesion Molecules, Neuronal
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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