{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T14:50:48Z","timestamp":1770735048713,"version":"3.49.0"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Molecular Autism"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the <jats:italic>Fmr1<\/jats:italic> knockout (<jats:italic>Fmr1-<\/jats:italic> KO) model, the neuroactive ligand receptor interaction pathway and gene sets associated with synaptic plasticity such as long-term potentiation, gap junction, and axon guidance were the most significantly perturbed pathways. The phosphatidylinositol signaling pathway was significantly dysregulated in both cerebellum and blood of <jats:italic>Fmr1<\/jats:italic>-KO mice. In <jats:italic>Tsc2<\/jats:italic> heterozygous (+\/\u2212) mice, immune system-related pathways, genes encoding ribosomal proteins, and glycolipid metabolism pathways were significantly changed in both tissues.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Our data suggest that distinct molecular pathways may be involved in ASD with known but different genetic causes and that blood gene expression profiles of <jats:italic>Fmr1-<\/jats:italic> KO and <jats:italic>Tsc2+\/\u2212<\/jats:italic> mice mirror some, but not all, of the perturbed molecular pathways in the brain.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/2040-2392-5-16","type":"journal-article","created":{"date-parts":[[2014,2,24]],"date-time":"2014-02-24T16:42:20Z","timestamp":1393260140000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis"],"prefix":"10.1186","volume":"5","author":[{"given":"Sek Won","family":"Kong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Sahin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christin D","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary H","family":"Wertz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malcolm G","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jarrett D","family":"Leech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilja","family":"Krueger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark F","family":"Bear","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louis M","family":"Kunkel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isaac S","family":"Kohane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,2,24]]},"reference":[{"key":"112_CR1","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1007\/s00439-011-1037-2","volume":"130","author":"SW Scherer","year":"2011","unstructured":"Scherer SW, Dawson G: Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet. 2011, 130: 123-148. 10.1007\/s00439-011-1037-2.","journal-title":"Hum Genet"},{"key":"112_CR2","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1016\/j.neuron.2011.05.025","volume":"70","author":"CP Schaaf","year":"2011","unstructured":"Schaaf CP, Zoghbi HY: Solving the autism puzzle a few pieces at a time. Neuron. 2011, 70: 806-808. 10.1016\/j.neuron.2011.05.025.","journal-title":"Neuron"},{"key":"112_CR3","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1038\/nrg2346","volume":"9","author":"BS Abrahams","year":"2008","unstructured":"Abrahams BS, Geschwind DH: Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. 2008, 9: 341-355. 10.1038\/nrg2346.","journal-title":"Nat Rev Genet"},{"key":"112_CR4","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1016\/j.molmed.2011.03.001","volume":"17","author":"PH Patterson","year":"2011","unstructured":"Patterson PH: Maternal infection and immune involvement in autism. Trends Mol Med. 2011, 17: 389-394. 10.1016\/j.molmed.2011.03.001.","journal-title":"Trends Mol Med"},{"key":"112_CR5","doi-asserted-by":"publisher","first-page":"2167","DOI":"10.1016\/S0140-6736(06)69665-7","volume":"368","author":"P Grandjean","year":"2006","unstructured":"Grandjean P, Landrigan PJ: Developmental neurotoxicity of industrial chemicals. Lancet. 2006, 368: 2167-2178. 10.1016\/S0140-6736(06)69665-7.","journal-title":"Lancet"},{"key":"112_CR6","doi-asserted-by":"publisher","first-page":"e33224","DOI":"10.1371\/journal.pone.0033224","volume":"7","author":"IS Kohane","year":"2012","unstructured":"Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, Bickel J, Wattanasin N, Spence S, Murphy S, Churchill S: The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012, 7: e33224-10.1371\/journal.pone.0033224.","journal-title":"PLoS One"},{"key":"112_CR7","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/2040-2392-1-12","volume":"1","author":"R Hagerman","year":"2010","unstructured":"Hagerman R, Hoem G, Hagerman P: Fragile X and autism: intertwined at the molecular level leading to targeted treatments. Mol Autism. 2010, 1: 12-10.1186\/2040-2392-1-12.","journal-title":"Mol Autism"},{"key":"112_CR8","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1111\/j.1469-7610.1997.tb01687.x","volume":"38","author":"JE Harrison","year":"1997","unstructured":"Harrison JE, Bolton PF: Annotation: tuberous sclerosis. J Child Psychol Psychiatry. 1997, 38: 603-614. 10.1111\/j.1469-7610.1997.tb01687.x.","journal-title":"J Child Psychol Psychiatry"},{"key":"112_CR9","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1038\/nrn2851","volume":"11","author":"JL Silverman","year":"2010","unstructured":"Silverman JL, Yang M, Lord C, Crawley JN: Behavioural phenotyping assays for mouse models of autism. Nat Rev Neurosci. 2010, 11: 490-502. 10.1038\/nrn2851.","journal-title":"Nat Rev Neurosci"},{"key":"112_CR10","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1002\/aur.175","volume":"4","author":"E Ey","year":"2011","unstructured":"Ey E, Leblond CS, Bourgeron T: Behavioral profiles of mouse models for autism spectrum disorders. Autism Research. 2011, 4: 5-16. 10.1002\/aur.175.","journal-title":"Autism Research"},{"key":"112_CR11","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1038\/nn.2477","volume":"13","author":"D Nie","year":"2010","unstructured":"Nie D, Di Nardo A, Han JM, Baharanyi H, Kramvis I, Huynh T, Dabora S, Codeluppi S, Pandolfi PP, Pasquale EB, Sahin M: Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nat Neurosci. 2010, 13: 163-172. 10.1038\/nn.2477.","journal-title":"Nat Neurosci"},{"key":"112_CR12","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1038\/nm1788","volume":"14","author":"D Ehninger","year":"2008","unstructured":"Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, Ramesh V, Silva AJ: Reversal of learning deficits in a Tsc2+\/\u2212 mouse model of tuberous sclerosis. Nat Med. 2008, 14: 843-848. 10.1038\/nm1788.","journal-title":"Nat Med"},{"key":"112_CR13","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1111\/j.1601-183X.2005.00135.x","volume":"4","author":"MF Bear","year":"2005","unstructured":"Bear MF: Therapeutic implications of the mGluR theory of fragile X mental retardation. Genes Brain Behav. 2005, 4: 393-398. 10.1111\/j.1601-183X.2005.00135.x.","journal-title":"Genes Brain Behav"},{"key":"112_CR14","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1007\/s12311-012-0355-9","volume":"11","author":"SH Fatemi","year":"2012","unstructured":"Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP: Consensus paper: pathological role of the cerebellum in autism. Cerebellum. 2012, 11: 777-807. 10.1007\/s12311-012-0355-9.","journal-title":"Cerebellum"},{"key":"112_CR15","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1177\/0883073807309788","volume":"23","author":"SS Jeste","year":"2008","unstructured":"Jeste SS, Sahin M, Bolton P, Ploubidis GB, Humphrey A: Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2008, 23: 520-525. 10.1177\/0883073807309788.","journal-title":"J Child Neurol"},{"key":"112_CR16","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1097\/WCO.0b013e32834451c4","volume":"24","author":"P Tsai","year":"2011","unstructured":"Tsai P, Sahin M: Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex. Curr Opin Neurol. 2011, 24: 106-113. 10.1097\/WCO.0b013e32834451c4.","journal-title":"Curr Opin Neurol"},{"key":"112_CR17","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1136\/jmg.2004.024646","volume":"42","author":"MG Butler","year":"2005","unstructured":"Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C: Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005, 42: 318-321. 10.1136\/jmg.2004.024646.","journal-title":"J Med Genet"},{"key":"112_CR18","doi-asserted-by":"publisher","first-page":"1948","DOI":"10.1002\/pro.483","volume":"19","author":"RE Redfern","year":"2010","unstructured":"Redfern RE, Daou MC, Li L, Munson M, Gericke A, Ross AH: A mutant form of PTEN linked to autism. Protein Sci. 2010, 19: 1948-1956. 10.1002\/pro.483.","journal-title":"Protein Sci"},{"key":"112_CR19","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1002\/aur.132","volume":"3","author":"KL McBride","year":"2010","unstructured":"McBride KL, Varga EA, Pastore MT, Prior TW, Manickam K, Atkin JF, Herman GE: Confirmation study of PTEN mutations among individuals with autism or developmental delays\/mental retardation and macrocephaly. Autism Res. 2010, 3: 137-141. 10.1002\/aur.132.","journal-title":"Autism Res"},{"key":"112_CR20","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1093\/hmg\/ddp092","volume":"18","author":"I Cusco","year":"2009","unstructured":"Cusco I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, Gonzalez E, Rodriguez-Santiago B, Vilella E, Del Campo M, Perez-Jurado LA: Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet. 2009, 18: 1795-1804. 10.1093\/hmg\/ddp092.","journal-title":"Hum Mol Genet"},{"key":"112_CR21","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/j.cell.2008.10.017","volume":"135","author":"RJ Kelleher","year":"2008","unstructured":"Kelleher RJ, Bear MF: The autistic neuron: troubled translation?. Cell. 2008, 135: 401-406. 10.1016\/j.cell.2008.10.017.","journal-title":"Cell"},{"key":"112_CR22","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1136\/jmg.2009.066852","volume":"46","author":"M Neves-Pereira","year":"2009","unstructured":"Neves-Pereira M, Muller B, Massie D, Williams JH, O'Brien PC, Hughes A, Shen SB, Clair DS, Miedzybrodzka Z: Deregulation of EIF4E: a novel mechanism for autism. J Med Genet. 2009, 46: 759-765. 10.1136\/jmg.2009.066852.","journal-title":"J Med Genet"},{"key":"112_CR23","doi-asserted-by":"publisher","first-page":"1923","DOI":"10.1212\/01.wnl.0000339399.64213.1a","volume":"71","author":"RL Bromley","year":"2008","unstructured":"Bromley RL, Mawer G, Clayton-Smith J, Baker GA: Autism spectrum disorders following in utero exposure to antiepileptic drugs. Neurology. 2008, 71: 1923-1924. 10.1212\/01.wnl.0000339399.64213.1a.","journal-title":"Neurology"},{"key":"112_CR24","doi-asserted-by":"publisher","first-page":"999","DOI":"10.2353\/ajpath.2009.080537","volume":"174","author":"PB Gurpur","year":"2009","unstructured":"Gurpur PB, Liu J, Burkin DJ, Kaufman SJ: Valproic acid activates the PI3K\/Akt\/mTOR pathway in muscle and ameliorates pathology in a mouse model of Duchenne muscular dystrophy. Am J Pathol. 2009, 174: 999-1008. 10.2353\/ajpath.2009.080537.","journal-title":"Am J Pathol"},{"key":"112_CR25","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.neulet.2009.12.054","volume":"470","author":"D Dufour-Rainfray","year":"2010","unstructured":"Dufour-Rainfray D, Vourc'h P, Le Guisquet AM, Garreau L, Ternant D, Bodard S, Jaumain E, Gulhan Z, Belzung C, Andres CR, Chalon S, Guilloteau D: Behavior and serotonergic disorders in rats exposed prenatally to valproate: a model for autism. Neurosci Lett. 2010, 470: 55-59. 10.1016\/j.neulet.2009.12.054.","journal-title":"Neurosci Lett"},{"key":"112_CR26","doi-asserted-by":"publisher","first-page":"694","DOI":"10.1523\/JNEUROSCI.3696-09.2010","volume":"30","author":"A Sharma","year":"2010","unstructured":"Sharma A, Hoeffer CA, Takayasu Y, Miyawaki T, McBride SM, Klann E, Zukin RS: Dysregulation of mTOR signaling in fragile X syndrome. J Neurosci. 2010, 30: 694-702. 10.1523\/JNEUROSCI.3696-09.2010.","journal-title":"J Neurosci"},{"key":"112_CR27","doi-asserted-by":"publisher","first-page":"10624","DOI":"10.1523\/JNEUROSCI.0402-10.2010","volume":"30","author":"C Gross","year":"2010","unstructured":"Gross C, Nakamoto M, Yao X, Chan CB, Yim SY, Ye K, Warren ST, Bassell GJ: Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome. J Neurosci. 2010, 30: 10624-10638. 10.1523\/JNEUROSCI.0402-10.2010.","journal-title":"J Neurosci"},{"key":"112_CR28","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1111\/j.1601-183X.2005.00134.x","volume":"4","author":"PW Vanderklish","year":"2005","unstructured":"Vanderklish PW, Edelman GM: Differential translation and fragile X syndrome. Genes Brain Behav. 2005, 4: 360-384. 10.1111\/j.1601-183X.2005.00134.x.","journal-title":"Genes Brain Behav"},{"key":"112_CR29","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.tins.2007.12.005","volume":"31","author":"DG Amaral","year":"2008","unstructured":"Amaral DG, Schumann CM, Nordahl CW: Neuroanatomy of autism. Trends Neurosci. 2008, 31: 137-145. 10.1016\/j.tins.2007.12.005.","journal-title":"Trends Neurosci"},{"key":"112_CR30","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/j.ijdevneu.2004.09.006","volume":"23","author":"ML Bauman","year":"2005","unstructured":"Bauman ML, Kemper TL: Neuroanatomic observations of the brain in autism: a review and future directions. Int J Dev Neurosci. 2005, 23: 183-187. 10.1016\/j.ijdevneu.2004.09.006.","journal-title":"Int J Dev Neurosci"},{"key":"112_CR31","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1146\/annurev.neuro.27.070203.144148","volume":"27","author":"TR Insel","year":"2004","unstructured":"Insel TR, Fernald RD: How the brain processes social information: searching for the social brain. Annu Rev Neurosci. 2004, 27: 697-722. 10.1146\/annurev.neuro.27.070203.144148.","journal-title":"Annu Rev Neurosci"},{"key":"112_CR32","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1038\/nature11310","volume":"488","author":"PT Tsai","year":"2012","unstructured":"Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM, Steinberg J, Crawley JN, Regehr WG, Sahin M: Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012, 488: 647-651. 10.1038\/nature11310.","journal-title":"Nature"},{"key":"112_CR33","doi-asserted-by":"publisher","first-page":"7746","DOI":"10.1073\/pnas.122205699","volume":"99","author":"KM Huber","year":"2002","unstructured":"Huber KM, Gallagher SM, Warren ST, Bear MF: Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci USA. 2002, 99: 7746-7750. 10.1073\/pnas.122205699.","journal-title":"Proc Natl Acad Sci USA"},{"key":"112_CR34","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1172\/JCI7319","volume":"104","author":"H Onda","year":"1999","unstructured":"Onda H, Lueck A, Marks PW, Warren HB, Kwiatkowski DJ: Tsc2(+\/\u2212) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest. 1999, 104: 687-695. 10.1172\/JCI7319.","journal-title":"J Clin Invest"},{"key":"112_CR35","doi-asserted-by":"publisher","first-page":"e49475","DOI":"10.1371\/journal.pone.0049475","volume":"7","author":"SW Kong","year":"2012","unstructured":"Kong SW, Collins CD, Shimizu-Motohashi Y, Holm IA, Campbell MG, Lee IH, Brewster SJ, Hanson E, Harris HK, Lowe KR, Saada A, Mora A, Madison K, Hundley R, Egan J, McCarthy J, Eran A, Galdzicki M, Rappaport L, Kunkel LM, Kohane IS: Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012, 7: e49475-10.1371\/journal.pone.0049475.","journal-title":"PLoS One"},{"key":"112_CR36","doi-asserted-by":"publisher","first-page":"9440","DOI":"10.1073\/pnas.1530509100","volume":"100","author":"JD Storey","year":"2003","unstructured":"Storey JD, Tibshirani R: Statistical significance for genomewide studies. Proc Natl Acad Sci USA. 2003, 100: 9440-9445. 10.1073\/pnas.1530509100.","journal-title":"Proc Natl Acad Sci USA"},{"key":"112_CR37","doi-asserted-by":"publisher","first-page":"15545","DOI":"10.1073\/pnas.0506580102","volume":"102","author":"A Subramanian","year":"2005","unstructured":"Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, Paulovich A, Pomeroy SL, Golub TR, Lander ES, Mesirov JP: Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci USA. 2005, 102: 15545-15550. 10.1073\/pnas.0506580102.","journal-title":"Proc Natl Acad Sci USA"},{"key":"112_CR38","doi-asserted-by":"publisher","first-page":"D832","DOI":"10.1093\/nar\/gkn835","volume":"37","author":"SN Basu","year":"2009","unstructured":"Basu SN, Kollu R, Banerjee-Basu S: AutDB: a gene reference resource for autism research. Nucleic Acids Res. 2009, 37: D832-D836. 10.1093\/nar\/gkn835.","journal-title":"Nucleic Acids Res"},{"key":"112_CR39","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/S0888-7543(03)00002-8","volume":"81","author":"A Tocchetti","year":"2003","unstructured":"Tocchetti A, Confalonieri S, Scita G, Di Fiore PP, Betsholtz C: In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure. Genomics. 2003, 81: 234-244. 10.1016\/S0888-7543(03)00002-8.","journal-title":"Genomics"},{"key":"112_CR40","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1038\/nature11737","volume":"492","author":"M Ascano Jr","year":"2012","unstructured":"Ascano M, Mukherjee N, Bandaru P, Miller JB, Nusbaum JD, Corcoran DL, Langlois C, Munschauer M, Dewell S, Hafner M, Williams Z, Ohler U, Tuschl T: FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature. 2012, 492: 382-386. 10.1038\/nature11737.","journal-title":"Nature"},{"key":"112_CR41","doi-asserted-by":"publisher","first-page":"2661","DOI":"10.1523\/JNEUROSCI.0998-12.2013","volume":"33","author":"E Stamatakou","year":"2013","unstructured":"Stamatakou E, Marzo A, Gibb A, Salinas PC: Activity-dependent spine morphogenesis: a role for the actin-capping protein Eps8. J Neurosci. 2013, 33: 2661-2670. 10.1523\/JNEUROSCI.0998-12.2013.","journal-title":"J Neurosci"},{"key":"112_CR42","volume-title":"EMBO J","author":"E Menna","year":"2013","unstructured":"Menna E, Zambetti S, Morini R, Donzelli A, Disanza A, Calvigioni D, Braida D, Nicolini C, Orlando M, Fossati G, Cristina Regondi M, Pattini L, Frassoni C, Francolini M, Scita G, Sala M, Fahnestock M, Matteoli M: Eps8 controls dendritic spine density and synaptic plasticity through its actin-capping activity. EMBO J. 2013"},{"key":"112_CR43","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/j.it.2009.02.002","volume":"30","author":"T Weichhart","year":"2009","unstructured":"Weichhart T, Saemann MD: The multiple facets of mTOR in immunity. Trends Immunol. 2009, 30: 218-226. 10.1016\/j.it.2009.02.002.","journal-title":"Trends Immunol"},{"key":"112_CR44","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1165\/rcmb.2009-0050OC","volume":"42","author":"PS Lee","year":"2010","unstructured":"Lee PS, Tsang SW, Moses MA, Trayes-Gibson Z, Hsiao LL, Jensen R, Squillace R, Kwiatkowski DJ: Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells. Am J Respir Cell Mol Biol. 2010, 42: 227-234. 10.1165\/rcmb.2009-0050OC.","journal-title":"Am J Respir Cell Mol Biol"},{"key":"112_CR45","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1038\/mp.2010.115","volume":"17","author":"D Ehninger","year":"2012","unstructured":"Ehninger D, Sano Y, de Vries PJ, Dies K, Franz D, Geschwind DH, Kaur M, Lee YS, Li W, Lowe JK, Nakagawa JA, Sahin M, Smith K, Whittemore V, Silva AJ: Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Mol Psychiatry. 2012, 17: 62-70. 10.1038\/mp.2010.115.","journal-title":"Mol Psychiatry"},{"key":"112_CR46","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1016\/j.bbi.2010.01.008","volume":"24","author":"P Ashwood","year":"2010","unstructured":"Ashwood P, Nguyen DV, Hessl D, Hagerman RJ, Tassone F: Plasma cytokine profiles in Fragile X subjects: is there a role for cytokines in the pathogenesis?. Brain Behav Immun. 2010, 24: 898-902. 10.1016\/j.bbi.2010.01.008.","journal-title":"Brain Behav Immun"},{"key":"112_CR47","doi-asserted-by":"publisher","first-page":"1006","DOI":"10.1016\/j.bbadis.2010.06.015","volume":"1802","author":"CJ Yuskaitis","year":"2010","unstructured":"Yuskaitis CJ, Beurel E, Jope RS: Evidence of reactive astrocytes but not peripheral immune system activation in a mouse model of fragile X syndrome. Biochim Biophys Acta. 2010, 1802: 1006-1012. 10.1016\/j.bbadis.2010.06.015.","journal-title":"Biochim Biophys Acta"},{"key":"112_CR48","doi-asserted-by":"publisher","first-page":"18478","DOI":"10.1074\/jbc.C800055200","volume":"283","author":"U Narayanan","year":"2008","unstructured":"Narayanan U, Nalavadi V, Nakamoto M, Thomas G, Ceman S, Bassell GJ, Warren ST: S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade. J Biol Chem. 2008, 283: 18478-18482. 10.1074\/jbc.C800055200.","journal-title":"J Biol Chem"},{"key":"112_CR49","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1038\/nature10658","volume":"480","author":"BD Auerbach","year":"2011","unstructured":"Auerbach BD, Osterweil EK, Bear MF: Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature. 2011, 480: 63-68. 10.1038\/nature10658.","journal-title":"Nature"},{"key":"112_CR50","doi-asserted-by":"publisher","first-page":"1727","DOI":"10.1038\/nn1566","volume":"8","author":"SF Tavazoie","year":"2005","unstructured":"Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL: Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci. 2005, 8: 1727-1734. 10.1038\/nn1566.","journal-title":"Nat Neurosci"},{"key":"112_CR51","doi-asserted-by":"publisher","first-page":"5401","DOI":"10.1073\/pnas.94.10.5401","volume":"94","author":"TA Comery","year":"1997","unstructured":"Comery TA, Harris JB, Willems PJ, Oostra BA, Irwin SA, Weiler IJ, Greenough WT: Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci U S A. 1997, 94: 5401-5404. 10.1073\/pnas.94.10.5401.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"112_CR52","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1016\/j.molcel.2010.05.007","volume":"38","author":"AY Choo","year":"2010","unstructured":"Choo AY, Kim SG, Vander Heiden MG, Mahoney SJ, Vu H, Yoon SO, Cantley LC, Blenis J: Glucose addiction of TSC null cells is caused by failed mTORC1-dependent balancing of metabolic demand with supply. Mol Cell. 2010, 38: 487-499. 10.1016\/j.molcel.2010.05.007.","journal-title":"Mol Cell"},{"key":"112_CR53","doi-asserted-by":"crossref","first-page":"737","DOI":"10.3233\/JAD-2012-121363","volume":"33","author":"K Lunnon","year":"2013","unstructured":"Lunnon K, Sattlecker M, Furney SJ, Coppola G, Simmons A, Proitsi P, Lupton MK, Lourdusamy A, Johnston C, Soininen H, K\u0142oszewska I, Mecocci P, Tsolaki M, Vellas B, Geschwind D, Lovestone S, Dobson R, Hodges A, dNeuroMed Consortium: A blood gene expression marker of early Alzheimer's disease. J Alzheimers Dis. 2013, 33: 737-753.","journal-title":"J Alzheimers Dis"},{"key":"112_CR54","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1016\/j.neuroscience.2005.06.081","volume":"135","author":"M Qin","year":"2005","unstructured":"Qin M, Kang J, Smith CB: A null mutation for Fmr1 in female mice: effects on regional cerebral metabolic rate for glucose and relationship to behavior. Neuroscience. 2005, 135: 999-1009. 10.1016\/j.neuroscience.2005.06.081.","journal-title":"Neuroscience"}],"container-title":["Molecular Autism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/2040-2392-5-16.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T03:05:30Z","timestamp":1630551930000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularautism.biomedcentral.com\/articles\/10.1186\/2040-2392-5-16"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,24]]},"references-count":54,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["112"],"URL":"https:\/\/doi.org\/10.1186\/2040-2392-5-16","relation":{},"ISSN":["2040-2392"],"issn-type":[{"value":"2040-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,24]]},"assertion":[{"value":"8 June 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 February 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 February 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"16"}}