{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:12:05Z","timestamp":1787497925264,"version":"build-2736575974"},"reference-count":125,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:00:00Z","timestamp":1718236800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:00:00Z","timestamp":1718236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50HD105353"],"award-info":[{"award-number":["P50HD105353"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH","award":["R01MH118827"],"award-info":[{"award-number":["R01MH118827"]}]},{"name":"NIH","award":["R01MH116582"],"award-info":[{"award-number":["R01MH116582"]}]},{"name":"NIH","award":["R01MH118827 diversity supplement"],"award-info":[{"award-number":["R01MH118827 diversity supplement"]}]},{"name":"NIH\/NIGMS","award":["T32 GM141013"],"award-info":[{"award-number":["T32 GM141013"]}]},{"name":"SciMed","award":["graduate support"],"award-info":[{"award-number":["graduate support"]}]},{"name":"SciMed","award":["graduate support"],"award-info":[{"award-number":["graduate support"]}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R36MH136790"],"award-info":[{"award-number":["R36MH136790"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000297","name":"FRAXA Research Foundation","doi-asserted-by":"publisher","award":["FRAXA Research Foundation"],"award-info":[{"award-number":["FRAXA Research Foundation"]}],"id":[{"id":"10.13039\/100000297","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020288","name":"Eagles Autism Foundation","doi-asserted-by":"publisher","award":["Eagles Autism Foundation"],"award-info":[{"award-number":["Eagles Autism Foundation"]}],"id":[{"id":"10.13039\/100020288","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurodevelop Disord"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (\n                    <jats:italic>FMR1)<\/jats:italic>\n                    gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps.\n                  <\/jats:p>","DOI":"10.1186\/s11689-024-09545-w","type":"journal-article","created":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T03:02:21Z","timestamp":1718766141000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["From wings to whiskers to stem cells: why every model matters in fragile X syndrome research"],"prefix":"10.1186","volume":"16","author":[{"given":"Soraya O.","family":"Sandoval","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha M.","family":"M\u00e9ndez-Albelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5128-4424","authenticated-orcid":false,"given":"Xinyu","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,13]]},"reference":[{"issue":"6","key":"9545_CR1","doi-asserted-by":"publisher","first-page":"R273","DOI":"10.1016\/j.cub.2021.01.043","volume":"31","author":"PJ Hagerman","year":"2021","unstructured":"Hagerman PJ, Hagerman R. Fragile X syndrome. Curr Biol. 2021;31(6):R273\u20135.","journal-title":"Curr Biol"},{"issue":"4","key":"9545_CR2","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1016\/0092-8674(91)90125-I","volume":"66","author":"M Pieretti","year":"1991","unstructured":"Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66(4):817\u201322.","journal-title":"Cell"},{"issue":"5","key":"9545_CR3","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","volume":"65","author":"AJ Verkerk","year":"1991","unstructured":"Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65(5):905\u201314.","journal-title":"Cell"},{"issue":"4","key":"9545_CR4","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/j.ajhg.2009.09.007","volume":"85","author":"B Coffee","year":"2009","unstructured":"Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009;85(4):503\u201314.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"9545_CR5","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1097\/GIM.0b013e31816b5cc9","volume":"10","author":"GB Schaefer","year":"2008","unstructured":"Schaefer GB, Mendelsohn NJ, Professional P, Guidelines C. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med. 2008;10(4):301\u20135.","journal-title":"Genet Med"},{"issue":"5","key":"9545_CR6","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1542\/peds.2010-3500","volume":"127","author":"JH Hersh","year":"2011","unstructured":"Hersh JH, Saul RA. Committee on G. Health supervision for children with fragile X syndrome. Pediatrics. 2011;127(5):994\u20131006.","journal-title":"Pediatrics"},{"key":"9545_CR7","doi-asserted-by":"publisher","first-page":"223","DOI":"10.3389\/fped.2020.00223","volume":"8","author":"MR Mailick","year":"2020","unstructured":"Mailick MR, Hong J, DaWalt LS, Greenberg JS, Movaghar A, Baker MW, et al. FMR1 low zone CGG repeats: phenotypic associations in the context of parenting stress. Front Pediatr. 2020;8:223.","journal-title":"Front Pediatr"},{"issue":"2","key":"9545_CR8","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1111\/j.1469-1809.2011.00694.x","volume":"76","author":"E Peprah","year":"2012","unstructured":"Peprah E, Fragile. X syndrome: the FMR1 CGG repeat distribution among world populations. Ann Hum Genet. 2012;76(2):178\u201391.","journal-title":"Ann Hum Genet"},{"key":"9545_CR9","doi-asserted-by":"publisher","first-page":"2112","DOI":"10.12688\/f1000research.11885.1","volume":"6","author":"A Rajaratnam","year":"2017","unstructured":"Rajaratnam A, Shergill J, Salcedo-Arellano M, Saldarriaga W, Duan X, Hagerman R. Fragile X syndrome and fragile X-associated disorders. F1000Res. 2017;6:2112.","journal-title":"F1000Res"},{"issue":"1","key":"9545_CR10","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1002\/ajmg.a.38504","volume":"176","author":"AF Sitzmann","year":"2018","unstructured":"Sitzmann AF, Hagelstrom RT, Tassone F, Hagerman RJ, Butler MG. Rare FMR1 gene mutations causing fragile X syndrome: a review. Am J Med Genet A. 2018;176(1):11\u20138.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"9545_CR11","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/s41583-021-00432-0","volume":"22","author":"JD Richter","year":"2021","unstructured":"Richter JD, Zhao X. The molecular biology of FMRP: new insights into fragile X syndrome. Nat Rev Neurosci. 2021;22(4):209\u201322.","journal-title":"Nat Rev Neurosci"},{"key":"9545_CR12","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1016\/j.neuroscience.2017.12.023","volume":"371","author":"B Xu","year":"2018","unstructured":"Xu B, Zhang Y, Zhan S, Wang X, Zhang H, Meng X, Ge W. Proteomic profiling of Brain and Testis reveals the diverse changes in ribosomal proteins in fmr1 knockout mice. Neuroscience. 2018;371:469\u201383.","journal-title":"Neuroscience"},{"issue":"8","key":"9545_CR13","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1093\/hmg\/5.8.1083","volume":"5","author":"DE Eberhart","year":"1996","unstructured":"Eberhart DE, Malter HE, Feng Y, Warren ST. The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum Mol Genet. 1996;5(8):1083\u201391.","journal-title":"Hum Mol Genet"},{"issue":"6","key":"9545_CR14","doi-asserted-by":"publisher","first-page":"1733","DOI":"10.1093\/hmg\/ddu586","volume":"24","author":"LK Myrick","year":"2015","unstructured":"Myrick LK, Hashimoto H, Cheng X, Warren ST. Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain. Hum Mol Genet. 2015;24(6):1733\u201340.","journal-title":"Hum Mol Genet"},{"issue":"35","key":"9545_CR15","doi-asserted-by":"publisher","first-page":"10437","DOI":"10.1021\/bi034909g","volume":"42","author":"S Adinolfi","year":"2003","unstructured":"Adinolfi S, Ramos A, Martin SR, Dal Piaz F, Pucci P, Bardoni B, et al. The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding. Biochemistry. 2003;42(35):10437\u201344.","journal-title":"Biochemistry"},{"issue":"1","key":"9545_CR16","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.str.2005.09.018","volume":"14","author":"A Ramos","year":"2006","unstructured":"Ramos A, Hollingworth D, Adinolfi S, Castets M, Kelly G, Frenkiel TA, et al. The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction. Structure. 2006;14(1):21\u201331.","journal-title":"Structure"},{"issue":"5","key":"9545_CR17","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1016\/j.neuron.2013.02.022","volume":"77","author":"DL Nelson","year":"2013","unstructured":"Nelson DL, Orr HT, Warren ST. The unstable repeats\u2013three evolving faces of neurological disease. Neuron. 2013;77(5):825\u201343.","journal-title":"Neuron"},{"issue":"2","key":"9545_CR18","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.cell.2011.06.013","volume":"146","author":"JC Darnell","year":"2011","unstructured":"Darnell JC, Van Driesche SJ, Zhang C, Hung KY, Mele A, Fraser CE, et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell. 2011;146(2):247\u201361.","journal-title":"Cell"},{"issue":"3","key":"9545_CR19","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1101\/gr.251405.119","volume":"30","author":"M Li","year":"2020","unstructured":"Li M, Shin J, Risgaard RD, Parries MJ, Wang J, Chasman D, et al. Identification of FMR1-regulated molecular networks in human neurodevelopment. Genome Res. 2020;30(3):361\u201374.","journal-title":"Genome Res"},{"issue":"12","key":"9545_CR20","doi-asserted-by":"publisher","first-page":"6344","DOI":"10.1093\/nar\/gky267","volume":"46","author":"T Maurin","year":"2018","unstructured":"Maurin T, Lebrigand K, Castagnola S, Paquet A, Jarjat M, Popa A, et al. HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein. Nucleic Acids Res. 2018;46(12):6344\u201355.","journal-title":"Nucleic Acids Res"},{"key":"9545_CR21","doi-asserted-by":"publisher","first-page":"e46919","DOI":"10.7554\/eLife.46919","volume":"8","author":"K Sawicka","year":"2019","unstructured":"Sawicka K, Hale CR, Park CY, Fak JJ, Gresack JE, Van Driesche SJ, et al. FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory. eLife. 2019;8:e46919.","journal-title":"eLife"},{"issue":"10","key":"9545_CR22","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1177\/0883073817712875","volume":"32","author":"M Niu","year":"2017","unstructured":"Niu M, Han Y, Dy ABC, Du J, Jin H, Qin J, et al. Autism symptoms in Fragile X Syndrome. J Child Neurol. 2017;32(10):903\u20139.","journal-title":"J Child Neurol"},{"key":"9545_CR23","doi-asserted-by":"crossref","unstructured":"Berry-Kravis E. Disease-targeted treatment translation in Fragile X Syndrome as a Model for Neurodevelopmental disorders. J Child Neurol. 2022:8830738221089740.","DOI":"10.1177\/08830738221089740"},{"key":"9545_CR24","doi-asserted-by":"crossref","unstructured":"Willemsen R, Kooy RF. Mouse models of fragile X-related disorders. Dis Model Mech. 2023;16(2).","DOI":"10.1242\/dmm.049485"},{"key":"9545_CR25","doi-asserted-by":"crossref","unstructured":"Lee A, Xu J, Wen Z, Jin P. Across dimensions: developing 2D and 3D human iPSC-Based models of Fragile X Syndrome. Cells. 2022;11(11).","DOI":"10.3390\/cells11111725"},{"key":"9545_CR26","doi-asserted-by":"publisher","first-page":"124","DOI":"10.3389\/fnmol.2018.00124","volume":"11","author":"M Drozd","year":"2018","unstructured":"Drozd M, Bardoni B, Capovilla M. Modeling fragile X syndrome in Drosophila. Front Mol Neurosci. 2018;11:124.","journal-title":"Front Mol Neurosci"},{"key":"9545_CR27","doi-asserted-by":"crossref","unstructured":"Trajkovic J, Makevic V, Pesic M, Pavkovic-Lucic S, Milojevic S, Cvjetkovic S et al. Drosophila melanogaster as a model to study Fragile X-Associated disorders. Genes (Basel). 2022;14(1).","DOI":"10.3390\/genes14010087"},{"issue":"7\u20138","key":"9545_CR28","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1242\/dmm.004598","volume":"3","author":"RL Coffee Jr","year":"2010","unstructured":"Coffee RL Jr., Tessier CR, Woodruff EA 3rd, Broadie K. Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P. Dis Model Mech. 2010;3(7\u20138):471\u201385.","journal-title":"Dis Model Mech"},{"issue":"11\u201312","key":"9545_CR29","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1242\/dmm.002006","volume":"3","author":"B Bhogal","year":"2010","unstructured":"Bhogal B, Jongens TA. Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention. Dis Model Mech. 2010;3(11\u201312):693\u2013700.","journal-title":"Dis Model Mech"},{"issue":"20","key":"9545_CR30","doi-asserted-by":"publisher","first-page":"1863","DOI":"10.1016\/j.cub.2004.09.085","volume":"14","author":"L Pan","year":"2004","unstructured":"Pan L, Zhang YQ, Woodruff E, Broadie K. The Drosophila fragile X gene negatively regulates neuronal elaboration and synaptic differentiation. Curr Biol. 2004;14(20):1863\u201370.","journal-title":"Curr Biol"},{"issue":"5","key":"9545_CR31","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/S0092-8674(01)00589-X","volume":"107","author":"YQ Zhang","year":"2001","unstructured":"Zhang YQ, Bailey AM, Matthies HJ, Renden RB, Smith MA, Speese SD, et al. Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Cell. 2001;107(5):591\u2013603.","journal-title":"Cell"},{"key":"9545_CR32","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.nbd.2016.02.006","volume":"89","author":"CA Doll","year":"2016","unstructured":"Doll CA, Broadie K. Neuron class-specific requirements for Fragile X Mental retardation protein in critical period development of calcium signaling in learning and memory circuitry. Neurobiol Dis. 2016;89:76\u201387.","journal-title":"Neurobiol Dis"},{"issue":"1","key":"9545_CR33","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.nbd.2010.09.002","volume":"41","author":"CR Tessier","year":"2011","unstructured":"Tessier CR, Broadie K. The fragile X mental retardation protein developmentally regulates the strength and fidelity of calcium signaling in Drosophila mushroom body neurons. Neurobiol Dis. 2011;41(1):147\u201359.","journal-title":"Neurobiol Dis"},{"issue":"21","key":"9545_CR34","doi-asserted-by":"publisher","first-page":"4655","DOI":"10.1093\/hmg\/dds307","volume":"21","author":"W Liu","year":"2012","unstructured":"Liu W, Jiang F, Bi X, Zhang YQ. Drosophila FMRP participates in the DNA damage response by regulating G2\/M cell cycle checkpoint and apoptosis. Hum Mol Genet. 2012;21(21):4655\u201368.","journal-title":"Hum Mol Genet"},{"issue":"3","key":"9545_CR35","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1083\/jcb.201607093","volume":"216","author":"RM O\u2019Connor","year":"2017","unstructured":"O\u2019Connor RM, Stone EF, Wayne CR, Marcinkevicius EV, Ulgherait M, Delventhal R, et al. A Drosophila model of Fragile X syndrome exhibits defects in phagocytosis by innate immune cells. J Cell Biol. 2017;216(3):595\u2013605.","journal-title":"J Cell Biol"},{"key":"9545_CR36","doi-asserted-by":"publisher","first-page":"10","DOI":"10.3389\/fgene.2019.00010","volume":"10","author":"V Specchia","year":"2019","unstructured":"Specchia V, Puricella A, D\u2019Attis S, Massari S, Giangrande A, Bozzetti MP. Drosophila melanogaster as a model to study the multiple phenotypes, related to Genome Stability of the Fragile-X syndrome. Front Genet. 2019;10:10.","journal-title":"Front Genet"},{"key":"9545_CR37","doi-asserted-by":"crossref","unstructured":"Curnow E, Wang Y. New Animal models for understanding FMRP functions and FXS Pathology. Cells. 2022;11(10).","DOI":"10.3390\/cells11101628"},{"issue":"4","key":"9545_CR38","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1002\/ajmg.a.62601","volume":"188","author":"DB Budimirovic","year":"2022","unstructured":"Budimirovic DB, Protic DD, Delahunty CM, Andrews HF, Choo TH, Xu Q, et al. Sleep problems in fragile X syndrome: cross-sectional analysis of a large clinic-based cohort. Am J Med Genet A. 2022;188(4):1029\u201339.","journal-title":"Am J Med Genet A"},{"issue":"6","key":"9545_CR39","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1016\/S0896-6273(02)00724-9","volume":"34","author":"TC Dockendorff","year":"2002","unstructured":"Dockendorff TC, Su HS, McBride SM, Yang Z, Choi CH, Siwicki KK, et al. Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. Neuron. 2002;34(6):973\u201384.","journal-title":"Neuron"},{"issue":"6","key":"9545_CR40","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1016\/S0896-6273(02)00731-6","volume":"34","author":"J Morales","year":"2002","unstructured":"Morales J, Hiesinger PR, Schroeder AJ, Kume K, Verstreken P, Jackson FR, et al. Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron. 2002;34(6):961\u201372.","journal-title":"Neuron"},{"issue":"5","key":"9545_CR41","doi-asserted-by":"publisher","first-page":"e37937","DOI":"10.1371\/journal.pone.0037937","volume":"7","author":"S Xu","year":"2012","unstructured":"Xu S, Poidevin M, Han E, Bi J, Jin P. Circadian rhythm-dependent alterations of gene expression in Drosophila brain lacking fragile X mental retardation protein. PLoS ONE. 2012;7(5):e37937.","journal-title":"PLoS ONE"},{"issue":"7","key":"9545_CR42","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1007\/s12264-021-00682-z","volume":"37","author":"J Zhao","year":"2021","unstructured":"Zhao J, Xue J, Zhu T, He H, Kang H, Jiang X, et al. Dysregulated CRMP mediates circadian deficits in a Drosophila Model of Fragile X Syndrome. Neurosci Bull. 2021;37(7):973\u201384.","journal-title":"Neurosci Bull"},{"issue":"8","key":"9545_CR43","doi-asserted-by":"publisher","first-page":"1140","DOI":"10.1038\/mp.2016.51","volume":"22","author":"RE Monyak","year":"2017","unstructured":"Monyak RE, Emerson D, Schoenfeld BP, Zheng X, Chambers DB, Rosenfelt C, et al. Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model. Mol Psychiatry. 2017;22(8):1140\u20138.","journal-title":"Mol Psychiatry"},{"issue":"10","key":"9545_CR44","doi-asserted-by":"publisher","first-page":"e1008356","DOI":"10.1371\/journal.pgen.1008356","volume":"15","author":"F Xu","year":"2019","unstructured":"Xu F, Kula-Eversole E, Iwanaszko M, Lim C, Allada R. Ataxin2 functions via CrebA to mediate huntingtin toxicity in circadian clock neurons. PLoS Genet. 2019;15(10):e1008356.","journal-title":"PLoS Genet"},{"issue":"Suppl 3","key":"9545_CR45","doi-asserted-by":"publisher","first-page":"S194","DOI":"10.1542\/peds.2016-1159F","volume":"139","author":"WE Kaufmann","year":"2017","unstructured":"Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, et al. Autism spectrum disorder in Fragile X syndrome: cooccurring conditions and current treatment. Pediatrics. 2017;139(Suppl 3):S194\u2013206.","journal-title":"Pediatrics"},{"issue":"11","key":"9545_CR46","doi-asserted-by":"publisher","first-page":"e27100","DOI":"10.1371\/journal.pone.0027100","volume":"6","author":"JM Tauber","year":"2011","unstructured":"Tauber JM, Vanlandingham PA, Zhang B. Elevated levels of the vesicular monoamine transporter and a novel repetitive behavior in the Drosophila model of fragile X syndrome. PLoS ONE. 2011;6(11):e27100.","journal-title":"PLoS ONE"},{"key":"9545_CR47","doi-asserted-by":"crossref","unstructured":"Kashima R, Redmond PL, Ghatpande P, Roy S, Kornberg TB, Hanke T et al. Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome. Sci Signal. 2017;10(477).","DOI":"10.1126\/scisignal.aai8133"},{"issue":"3","key":"9545_CR48","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1007\/s10522-009-9259-6","volume":"11","author":"CH Choi","year":"2010","unstructured":"Choi CH, McBride SM, Schoenfeld BP, Liebelt DA, Ferreiro D, Ferrick NJ, et al. Age-dependent cognitive impairment in a Drosophila fragile X model and its pharmacological rescue. Biogerontology. 2010;11(3):347\u201362.","journal-title":"Biogerontology"},{"issue":"6","key":"9545_CR49","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1002\/dneu.20388","volume":"67","author":"VG Martinez","year":"2007","unstructured":"Martinez VG, Javadi CS, Ngo E, Ngo L, Lagow RD, Zhang B. Age-related changes in climbing behavior and neural circuit physiology in Drosophila. Dev Neurobiol. 2007;67(6):778\u201391.","journal-title":"Dev Neurobiol"},{"issue":"2","key":"9545_CR50","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1007\/s11689-010-9047-2","volume":"2","author":"A Utari","year":"2010","unstructured":"Utari A, Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, et al. Aging in fragile X syndrome. J Neurodev Disord. 2010;2(2):70\u20136.","journal-title":"J Neurodev Disord"},{"issue":"1","key":"9545_CR51","doi-asserted-by":"publisher","first-page":"3801","DOI":"10.1038\/s41467-023-39337-0","volume":"14","author":"Y Guo","year":"2023","unstructured":"Guo Y, Shen M, Dong Q, Mendez-Albelo NM, Huang SX, Sirois CL, et al. Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway. Nat Commun. 2023;14(1):3801.","journal-title":"Nat Commun"},{"issue":"1","key":"9545_CR52","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1002\/ana.410310105","volume":"31","author":"E Berry-Kravis","year":"1992","unstructured":"Berry-Kravis E, Huttenlocher PR. Cyclic AMP metabolism in fragile X syndrome. Ann Neurol. 1992;31(1):22\u20136.","journal-title":"Ann Neurol"},{"issue":"5","key":"9545_CR53","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1203\/00006450-199511000-00002","volume":"38","author":"E Berry-Kravis","year":"1995","unstructured":"Berry-Kravis E, Hicar M, Ciurlionis R. Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations. Pediatr Res. 1995;38(5):638\u201343.","journal-title":"Pediatr Res"},{"issue":"9","key":"9545_CR54","doi-asserted-by":"publisher","first-page":"e931","DOI":"10.1371\/journal.pone.0000931","volume":"2","author":"DJ Kelley","year":"2007","unstructured":"Kelley DJ, Davidson RJ, Elliott JL, Lahvis GP, Yin JC, Bhattacharyya A. The cyclic AMP cascade is altered in the fragile X nervous system. PLoS ONE. 2007;2(9):e931.","journal-title":"PLoS ONE"},{"issue":"1","key":"9545_CR55","doi-asserted-by":"publisher","first-page":"14653","DOI":"10.1038\/s41598-017-15028-x","volume":"7","author":"ME Gurney","year":"2017","unstructured":"Gurney ME, Cogram P, Deacon RM, Rex C, Tranfaglia M. Multiple behavior phenotypes of the Fragile-X Syndrome Mouse Model respond to Chronic Inhibition of Phosphodiesterase-4D (PDE4D). Sci Rep. 2017;7(1):14653.","journal-title":"Sci Rep"},{"key":"9545_CR56","doi-asserted-by":"publisher","first-page":"105485","DOI":"10.1016\/j.nbd.2021.105485","volume":"159","author":"M Rosenheck","year":"2021","unstructured":"Rosenheck M, Sheeler C, Sare RM, Gurney ME, Smith CB. Effects of chronic inhibition of phosphodiesterase-4D on behavior and regional rates of cerebral protein synthesis in a mouse model of fragile X syndrome. Neurobiol Dis. 2021;159:105485.","journal-title":"Neurobiol Dis"},{"issue":"5","key":"9545_CR57","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1038\/s41591-021-01321-w","volume":"27","author":"EM Berry-Kravis","year":"2021","unstructured":"Berry-Kravis EM, Harnett MD, Reines SA, Reese MA, Ethridge LE, Outterson AH, et al. Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial. Nat Med. 2021;27(5):862\u201370.","journal-title":"Nat Med"},{"issue":"3","key":"9545_CR58","doi-asserted-by":"publisher","first-page":"216","DOI":"10.4161\/fly.4.3.12280","volume":"4","author":"FV Bolduc","year":"2010","unstructured":"Bolduc FV, Valente D, Nguyen AT, Mitra PP, Tully T. An assay for social interaction in Drosophila fragile X mutants. Fly (Austin). 2010;4(3):216\u201325.","journal-title":"Fly (Austin)"},{"issue":"1","key":"9545_CR59","first-page":"23","volume":"78","author":"Fmr1 knockout","year":"1994","unstructured":"Fmr1 knockout. Mice: a model to study fragile X mental retardation. The dutch-belgian Fragile X Consortium. Cell. 1994;78(1):23\u201333.","journal-title":"Cell"},{"issue":"3","key":"9545_CR60","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1038\/ng0793-244","volume":"4","author":"CT Ashley","year":"1993","unstructured":"Ashley CT, Sutcliffe JS, Kunst CB, Leiner HA, Eichler EE, Nelson DL, Warren ST. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet. 1993;4(3):244\u201351.","journal-title":"Nat Genet"},{"issue":"3","key":"9545_CR61","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1016\/j.nbd.2005.08.019","volume":"21","author":"EJ Mientjes","year":"2006","unstructured":"Mientjes EJ, Nieuwenhuizen I, Kirkpatrick L, Zu T, Hoogeveen-Westerveld M, Severijnen L, et al. The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis. 2006;21(3):549\u201355.","journal-title":"Neurobiol Dis"},{"issue":"3","key":"9545_CR62","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1016\/j.neuron.2005.07.005","volume":"47","author":"SK Koekkoek","year":"2005","unstructured":"Koekkoek SK, Yamaguchi K, Milojkovic BA, Dortland BR, Ruigrok TJ, Maex R, et al. Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Neuron. 2005;47(3):339\u201352.","journal-title":"Neuron"},{"issue":"12","key":"9545_CR63","doi-asserted-by":"publisher","first-page":"e1000758","DOI":"10.1371\/journal.pgen.1000758","volume":"5","author":"JB Zang","year":"2009","unstructured":"Zang JB, Nosyreva ED, Spencer CM, Volk LJ, Musunuru K, Zhong R, et al. A mouse model of the human fragile X syndrome I304N mutation. PLoS Genet. 2009;5(12):e1000758.","journal-title":"PLoS Genet"},{"issue":"5","key":"9545_CR64","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1038\/nm.2336","volume":"17","author":"W Guo","year":"2011","unstructured":"Guo W, Allan AM, Zong R, Zhang L, Johnson EB, Schaller EG, et al. Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med. 2011;17(5):559\u201365.","journal-title":"Nat Med"},{"issue":"2","key":"9545_CR65","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1037\/a0035988","volume":"128","author":"SM Hamilton","year":"2014","unstructured":"Hamilton SM, Green JR, Veeraragavan S, Yuva L, McCoy A, Wu Y, et al. Fmr1 and Nlgn3 knockout rats: novel tools for investigating autism spectrum disorders. Behav Neurosci. 2014;128(2):103\u20139.","journal-title":"Behav Neurosci"},{"key":"9545_CR66","doi-asserted-by":"publisher","first-page":"269","DOI":"10.3389\/fnmol.2017.00269","volume":"10","author":"Y Tian","year":"2017","unstructured":"Tian Y, Yang C, Shang S, Cai Y, Deng X, Zhang J, et al. Loss of FMRP impaired hippocampal long-term plasticity and spatial learning in rats. Front Mol Neurosci. 2017;10:269.","journal-title":"Front Mol Neurosci"},{"key":"9545_CR67","doi-asserted-by":"publisher","first-page":"41","DOI":"10.3389\/fnmol.2018.00041","volume":"11","author":"R Dahlhaus","year":"2018","unstructured":"Dahlhaus R. Of men and mice: modeling the Fragile X Syndrome. Front Mol Neurosci. 2018;11:41.","journal-title":"Front Mol Neurosci"},{"issue":"1","key":"9545_CR68","doi-asserted-by":"publisher","first-page":"22535","DOI":"10.1038\/s41598-022-26986-2","volume":"12","author":"A D\u2019Elia","year":"2022","unstructured":"D\u2019Elia A, Schiavi S, Manduca A, Rava A, Buzzelli V, Ascone F, et al. FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability. Sci Rep. 2022;12(1):22535.","journal-title":"Sci Rep"},{"key":"9545_CR69","doi-asserted-by":"publisher","first-page":"736255","DOI":"10.3389\/fped.2021.736255","volume":"9","author":"E Berry-Kravis","year":"2021","unstructured":"Berry-Kravis E, Filipink RA, Frye RE, Golla S, Morris SM, Andrews H, et al. Seizures in Fragile X Syndrome: associations and Longitudinal Analysis of a large clinic-based cohort. Front Pediatr. 2021;9:736255.","journal-title":"Front Pediatr"},{"issue":"1","key":"9545_CR70","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/j.expneurol.2006.08.007","volume":"203","author":"SA Musumeci","year":"2007","unstructured":"Musumeci SA, Calabrese G, Bonaccorso CM, D\u2019Antoni S, Brouwer JR, Bakker CE, et al. Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp Neurol. 2007;203(1):233\u201340.","journal-title":"Exp Neurol"},{"key":"9545_CR71","doi-asserted-by":"publisher","first-page":"105118","DOI":"10.1016\/j.nbd.2020.105118","volume":"146","author":"H Wong","year":"2020","unstructured":"Wong H, Hooper AWM, Niibori Y, Lee SJ, Hategan LA, Zhang L, et al. Sexually dimorphic patterns in electroencephalography power spectrum and autism-related behaviors in a rat model of fragile X syndrome. Neurobiol Dis. 2020;146:105118.","journal-title":"Neurobiol Dis"},{"issue":"1","key":"9545_CR72","doi-asserted-by":"publisher","first-page":"18799","DOI":"10.1038\/s41598-020-75893-x","volume":"10","author":"N Kozono","year":"2020","unstructured":"Kozono N, Okamura A, Honda S, Matsumoto M, Mihara T. Gamma power abnormalities in a Fmr1-targeted transgenic rat model of fragile X syndrome. Sci Rep. 2020;10(1):18799.","journal-title":"Sci Rep"},{"key":"9545_CR73","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.nbd.2018.03.012","volume":"115","author":"JW Lovelace","year":"2018","unstructured":"Lovelace JW, Ethell IM, Binder DK, Razak KA. Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome. Neurobiol Dis. 2018;115:39\u201348.","journal-title":"Neurobiol Dis"},{"key":"9545_CR74","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/s11689-017-9191-z","volume":"9","author":"J Wang","year":"2017","unstructured":"Wang J, Ethridge LE, Mosconi MW, White SP, Binder DK, Pedapati EV, et al. A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome. J Neurodev Disord. 2017;9:11.","journal-title":"J Neurodev Disord"},{"issue":"7","key":"9545_CR75","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1111\/j.1601-183X.2005.00123.x","volume":"4","author":"CM Spencer","year":"2005","unstructured":"Spencer CM, Alekseyenko O, Serysheva E, Yuva-Paylor LA, Paylor R. Altered anxiety-related and social behaviors in the Fmr1 knockout mouse model of fragile X syndrome. Genes Brain Behav. 2005;4(7):420\u201330.","journal-title":"Genes Brain Behav"},{"key":"9545_CR76","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.nbd.2014.12.021","volume":"75","author":"CE de Esch","year":"2015","unstructured":"de Esch CE, van den Berg WE, Buijsen RA, Jaafar IA, Nieuwenhuizen-Bakker IM, Gasparini F, et al. Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the automated tube test. Neurobiol Dis. 2015;75:31\u20139.","journal-title":"Neurobiol Dis"},{"key":"9545_CR77","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.bbr.2014.05.046","volume":"271","author":"Q Ding","year":"2014","unstructured":"Ding Q, Sethna F, Wang H. Behavioral analysis of male and female Fmr1 knockout mice on C57BL\/6 background. Behav Brain Res. 2014;271:72\u20138.","journal-title":"Behav Brain Res"},{"issue":"1","key":"9545_CR78","doi-asserted-by":"publisher","first-page":"12666","DOI":"10.1038\/s41598-023-39643-z","volume":"13","author":"RE Ruggiero-Ruff","year":"2023","unstructured":"Ruggiero-Ruff RE, Villa PA, Hijleh SA, Avalos B, DiPatrizio NV, Haga-Yamanaka S, Coss D. Increased body weight in mice with fragile X messenger ribonucleoprotein 1 (Fmr1) gene mutation is associated with hypothalamic dysfunction. Sci Rep. 2023;13(1):12666.","journal-title":"Sci Rep"},{"issue":"2","key":"9545_CR79","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1002\/ajmg.10500","volume":"111","author":"SA Irwin","year":"2002","unstructured":"Irwin SA, Idupulapati M, Gilbert ME, Harris JB, Chakravarti AB, Rogers EJ, et al. Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet. 2002;111(2):140\u20136.","journal-title":"Am J Med Genet"},{"key":"9545_CR80","doi-asserted-by":"crossref","unstructured":"Speranza L, Filiz KD, Goebel S, Perrone-Capano C, Pulcrano S, Volpicelli F, Francesconi A. Combined DiI and antibody labeling reveals Complex Dysgenesis of hippocampal dendritic spines in a mouse model of Fragile X Syndrome. Biomedicines. 2022;10(11).","DOI":"10.3390\/biomedicines10112692"},{"issue":"18","key":"9545_CR81","doi-asserted-by":"publisher","first-page":"6405","DOI":"10.1523\/JNEUROSCI.5302-13.2014","volume":"34","author":"LS Wijetunge","year":"2014","unstructured":"Wijetunge LS, Angibaud J, Frick A, Kind PC, Nagerl UV. Stimulated emission depletion (STED) microscopy reveals nanoscale defects in the developmental trajectory of dendritic spine morphogenesis in a mouse model of fragile X syndrome. J Neurosci. 2014;34(18):6405\u201312.","journal-title":"J Neurosci"},{"issue":"21","key":"9545_CR82","doi-asserted-by":"publisher","first-page":"5977","DOI":"10.1093\/hmg\/ddv299","volume":"24","author":"SM Till","year":"2015","unstructured":"Till SM, Asiminas A, Jackson AD, Katsanevaki D, Barnes SA, Osterweil EK, et al. Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS. Hum Mol Genet. 2015;24(21):5977\u201384.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"9545_CR83","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1002\/1096-8628(20010115)98:2<161::AID-AJMG1025>3.0.CO;2-B","volume":"98","author":"SA Irwin","year":"2001","unstructured":"Irwin SA, Patel B, Idupulapati M, Harris JB, Crisostomo RA, Larsen BP, et al. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet. 2001;98(2):161\u20137.","journal-title":"Am J Med Genet"},{"issue":"3","key":"9545_CR84","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1002\/ajmg.1320410306","volume":"41","author":"VJ Hinton","year":"1991","unstructured":"Hinton VJ, Brown WT, Wisniewski K, Rudelli RD. Analysis of neocortex in three males with the fragile X syndrome. Am J Med Genet. 1991;41(3):289\u201394.","journal-title":"Am J Med Genet"},{"issue":"3","key":"9545_CR85","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1007\/s13311-015-0355-9","volume":"12","author":"C Gross","year":"2015","unstructured":"Gross C, Hoffmann A, Bassell GJ, Berry-Kravis EM. Therapeutic strategies in Fragile X Syndrome: from bench to Bedside and back. Neurotherapeutics. 2015;12(3):584\u2013608.","journal-title":"Neurotherapeutics"},{"issue":"11","key":"9545_CR86","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 U S A. 2002;99(11):7746\u201350.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"9545_CR87","doi-asserted-by":"publisher","first-page":"2572","DOI":"10.1152\/jn.90558.2008","volume":"101","author":"J Zhang","year":"2009","unstructured":"Zhang J, Hou L, Klann E, Nelson DL. Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol. 2009;101(5):2572\u201380.","journal-title":"J Neurophysiol"},{"issue":"1","key":"9545_CR88","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1038\/s41398-024-02815-0","volume":"14","author":"G Ntoulas","year":"2024","unstructured":"Ntoulas G, Brakatselos C, Nakas G, Asprogerakas MZ, Delis F, Leontiadis LJ, et al. Multi-level profiling of the Fmr1 KO rat unveils altered behavioral traits along with aberrant glutamatergic function. Transl Psychiatry. 2024;14(1):104.","journal-title":"Transl Psychiatry"},{"issue":"4","key":"9545_CR89","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/j.neuron.2015.06.017","volume":"87","author":"A Contractor","year":"2015","unstructured":"Contractor A, Klyachko VA, Portera-Cailliau C. Altered neuronal and Circuit Excitability in Fragile X Syndrome. Neuron. 2015;87(4):699\u2013715.","journal-title":"Neuron"},{"key":"9545_CR90","doi-asserted-by":"crossref","unstructured":"Zhu Y, Sousa AMM, Gao T, Skarica M, Li M, Santpere G et al. Spatiotemporal transcriptomic divergence across human and macaque brain development. Science. 2018;362(6420).","DOI":"10.1126\/science.aat8077"},{"issue":"1","key":"9545_CR91","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.cortex.2011.07.002","volume":"48","author":"M Petrides","year":"2012","unstructured":"Petrides M, Tomaiuolo F, Yeterian EH, Pandya DN. The prefrontal cortex: comparative architectonic organization in the human and the macaque monkey brains. Cortex. 2012;48(1):46\u201357.","journal-title":"Cortex"},{"issue":"6614","key":"9545_CR92","doi-asserted-by":"publisher","first-page":"eabo7257","DOI":"10.1126\/science.abo7257","volume":"377","author":"S Ma","year":"2022","unstructured":"Ma S, Skarica M, Li Q, Xu C, Risgaard RD, Tebbenkamp ATN, et al. Molecular and cellular evolution of the primate dorsolateral prefrontal cortex. Science. 2022;377(6614):eabo7257.","journal-title":"Science"},{"issue":"2","key":"9545_CR93","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1016\/j.yexcr.2006.10.002","volume":"313","author":"JR Brouwer","year":"2007","unstructured":"Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, Severijnen LA, Van der Linde HC, et al. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation. Exp Cell Res. 2007;313(2):244\u201353.","journal-title":"Exp Cell Res"},{"issue":"6","key":"9545_CR94","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1016\/j.ajhg.2018.10.009","volume":"103","author":"X Zhao","year":"2018","unstructured":"Zhao X, Bhattacharyya A. Human models are needed for studying Human Neurodevelopmental disorders. Am J Hum Genet. 2018;103(6):829\u201357.","journal-title":"Am J Hum Genet"},{"key":"9545_CR95","doi-asserted-by":"crossref","unstructured":"Colvin S, Lea N, Zhang Q, Wienisch M, Kaiser T, Aida T, Feng G. 341 repeats is not enough for methylation in a New Fragile X Mouse Model. eNeuro. 2022;9(5).","DOI":"10.1523\/ENEURO.0142-22.2022"},{"issue":"16","key":"9545_CR96","doi-asserted-by":"publisher","first-page":"1693","DOI":"10.1093\/hmg\/10.16.1693","volume":"10","author":"CJ Bontekoe","year":"2001","unstructured":"Bontekoe CJ, Bakker CE, Nieuwenhuizen IM, van der Linde H, Lans H, de Lange D, et al. Instability of a (CGG)98 repeat in the Fmr1 promoter. Hum Mol Genet. 2001;10(16):1693\u20139.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"9545_CR97","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1538\/expanim.20-0158","volume":"70","author":"K Mekada","year":"2021","unstructured":"Mekada K, Yoshiki A. Substrains matter in phenotyping of C57BL\/6 mice. Exp Anim. 2021;70(2):145\u201360.","journal-title":"Exp Anim"},{"key":"9545_CR98","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1007\/978-1-4939-9080-1_7","volume":"1942","author":"J Hunt","year":"2019","unstructured":"Hunt J, Li M, Zhao X, Bhattacharyya A. Using human neural progenitor cell models to Conduct large-Scale Drug Screens for Neurological and Psychiatric diseases. Methods Mol Biol. 2019;1942:79\u201388.","journal-title":"Methods Mol Biol"},{"key":"9545_CR99","doi-asserted-by":"crossref","unstructured":"Hunt JFV, Li M, Risgaard R, Ananiev GE, Wildman S, Zhang F et al. High throughput small molecule screen for reactivation of FMR1 in Fragile X Syndrome Human neural cells. Cells. 2021;11(1).","DOI":"10.3390\/cells11010069"},{"issue":"2","key":"9545_CR100","doi-asserted-by":"publisher","first-page":"108991","DOI":"10.1016\/j.celrep.2021.108991","volume":"35","author":"N Raj","year":"2021","unstructured":"Raj N, McEachin ZT, Harousseau W, Zhou Y, Zhang F, Merritt-Garza ME, et al. Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis. Cell Rep. 2021;35(2):108991.","journal-title":"Cell Rep"},{"issue":"49","key":"9545_CR101","doi-asserted-by":"publisher","first-page":"17834","DOI":"10.1073\/pnas.0508995102","volume":"102","author":"M Castren","year":"2005","unstructured":"Castren M, Tervonen T, Karkkainen V, Heinonen S, Castren E, Larsson K, et al. Altered differentiation of neural stem cells in fragile X syndrome. Proc Natl Acad Sci U S A. 2005;102(49):17834\u20139.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"10","key":"9545_CR102","doi-asserted-by":"publisher","first-page":"e26203","DOI":"10.1371\/journal.pone.0026203","volume":"6","author":"SD Sheridan","year":"2011","unstructured":"Sheridan SD, Theriault KM, Reis SA, Zhou F, Madison JM, Daheron L, et al. Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome. PLoS ONE. 2011;6(10):e26203.","journal-title":"PLoS ONE"},{"issue":"15","key":"9545_CR103","doi-asserted-by":"publisher","first-page":"1777","DOI":"10.1089\/scd.2014.0030","volume":"23","author":"ME Doers","year":"2014","unstructured":"Doers ME, Musser MT, Nichol R, Berndt ER, Baker M, Gomez TM, et al. iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth. Stem Cells Dev. 2014;23(15):1777\u201387.","journal-title":"Stem Cells Dev"},{"issue":"5","key":"9545_CR104","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1016\/j.cell.2018.01.012","volume":"172","author":"XS Liu","year":"2018","unstructured":"Liu XS, Wu H, Krzisch M, Wu X, Graef J, Muffat J, et al. Rescue of fragile X syndrome neurons by DNA methylation editing of the FMR1 gene. Cell. 2018;172(5):979\u201392. e6.","journal-title":"Cell"},{"key":"9545_CR105","doi-asserted-by":"crossref","unstructured":"Shen M, Sirois CL, Guo Y, Li M, Dong Q, Mendez-Albelo NM et al. Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development. Neuron. 2023.","DOI":"10.1016\/j.neuron.2023.09.014"},{"issue":"6","key":"9545_CR106","doi-asserted-by":"publisher","first-page":"1449","DOI":"10.1016\/j.stemcr.2018.11.003","volume":"11","author":"C Danesi","year":"2018","unstructured":"Danesi C, Achuta VS, Corcoran P, Peteri UK, Turconi G, Matsui N, et al. Increased calcium influx through L-type calcium channels in human and mouse neural progenitors lacking Fragile X Mental retardation protein. Stem Cell Rep. 2018;11(6):1449\u201361.","journal-title":"Stem Cell Rep"},{"key":"9545_CR107","doi-asserted-by":"crossref","unstructured":"Zhang Z, Marro SG, Zhang Y, Arendt KL, Patzke C, Zhou B et al. The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling. Sci Transl Med. 2018;10(452).","DOI":"10.1126\/scitranslmed.aar4338"},{"issue":"1","key":"9545_CR108","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1186\/s13229-020-00351-4","volume":"11","author":"S Das Sharma","year":"2020","unstructured":"Das Sharma S, Pal R, Reddy BK, Selvaraj BT, Raj N, Samaga KK, et al. Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns. Mol Autism. 2020;11(1):52.","journal-title":"Mol Autism"},{"key":"9545_CR109","doi-asserted-by":"crossref","unstructured":"Svalina MN, Guthman EM, Cea-Del Rio CA, Kushner JK, Baca SM, Restrepo D, Huntsman MM. Hyperexcitability and loss of Feedforward Inhibition Contribute to aberrant plasticity in the Fmr1KO amygdala. eNeuro. 2021;8(3).","DOI":"10.1523\/ENEURO.0113-21.2021"},{"issue":"1","key":"9545_CR110","first-page":"197","volume":"32","author":"YJ Song","year":"2021","unstructured":"Song YJ, Xing B, Barbour AJ, Zhou C, Jensen FE. Dysregulation of GABAA receptor-mediated neurotransmission during the auditory cortex critical period in the Fragile X Syndrome Mouse Model. Cereb Cortex. 2021;32(1):197\u2013215.","journal-title":"Cereb Cortex"},{"issue":"10","key":"9545_CR111","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1038\/s41593-021-00913-6","volume":"24","author":"Y Kang","year":"2021","unstructured":"Kang Y, Zhou Y, Li Y, Han Y, Xu J, Niu W, et al. A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies. Nat Neurosci. 2021;24(10):1377\u201391.","journal-title":"Nat Neurosci"},{"key":"9545_CR112","unstructured":"Amiri A, Coppola G, Scuderi S, Wu F, Roychowdhury T, Liu F et al. Transcriptome and epigenome landscape of human cortical development modeled in organoids. Science. 2018;362(6420)."},{"issue":"3","key":"9545_CR113","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1038\/s41593-021-00802-y","volume":"24","author":"A Gordon","year":"2021","unstructured":"Gordon A, Yoon SJ, Tran SS, Makinson CD, Park JY, Andersen J, et al. Long-term maturation of human cortical organoids matches key early postnatal transitions. Nat Neurosci. 2021;24(3):331\u201342.","journal-title":"Nat Neurosci"},{"issue":"2","key":"9545_CR114","doi-asserted-by":"publisher","first-page":"100409","DOI":"10.1016\/j.crmeth.2023.100409","volume":"3","author":"C He","year":"2023","unstructured":"He C, Kalafut NC, Sandoval SO, Risgaard R, Sirois CL, Yang C, et al. BOMA, a machine-learning framework for comparative gene expression analysis across brains and organoids. Cell Rep Methods. 2023;3(2):100409.","journal-title":"Cell Rep Methods"},{"issue":"7652","key":"9545_CR115","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1038\/nature22330","volume":"545","author":"F Birey","year":"2017","unstructured":"Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, et al. Assembly of functionally integrated human forebrain spheroids. Nature. 2017;545(7652):54\u20139.","journal-title":"Nature"},{"issue":"2","key":"9545_CR116","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1016\/j.stem.2021.11.011","volume":"29","author":"F Birey","year":"2022","unstructured":"Birey F, Li MY, Gordon A, Thete MV, Valencia AM, Revah O, et al. Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome. Cell Stem Cell. 2022;29(2):248\u201364. e7.","journal-title":"Cell Stem Cell"},{"issue":"10","key":"9545_CR117","doi-asserted-by":"publisher","first-page":"1488","DOI":"10.1038\/s41593-021-00906-5","volume":"24","author":"RA Samarasinghe","year":"2021","unstructured":"Samarasinghe RA, Miranda OA, Buth JE, Mitchell S, Ferando I, Watanabe M, et al. Identification of neural oscillations and epileptiform changes in human brain organoids. Nat Neurosci. 2021;24(10):1488\u2013500.","journal-title":"Nat Neurosci"},{"key":"9545_CR118","doi-asserted-by":"publisher","first-page":"610427","DOI":"10.3389\/fcell.2020.610427","volume":"8","author":"AR Gomes","year":"2020","unstructured":"Gomes AR, Fernandes TG, Vaz SH, Silva TP, Bekman EP, Xapelli S, et al. Modeling Rett Syndrome with Human patient-specific Forebrain Organoids. Front Cell Dev Biol. 2020;8:610427.","journal-title":"Front Cell Dev Biol"},{"key":"9545_CR119","doi-asserted-by":"crossref","unstructured":"Tang XY, Xu L, Wang J, Hong Y, Wang Y, Zhu Q et al. DSCAM\/PAK1 pathway suppression reverses neurogenesis deficits in iPSC-derived cerebral organoids from patients with Down syndrome. J Clin Invest. 2021;131(12).","DOI":"10.1172\/JCI135763"},{"issue":"1","key":"9545_CR120","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/s13229-020-00360-3","volume":"11","author":"WK Chan","year":"2020","unstructured":"Chan WK, Griffiths R, Price DJ, Mason JO. Cerebral organoids as tools to identify the developmental roots of autism. Mol Autism. 2020;11(1):58.","journal-title":"Mol Autism"},{"issue":"5","key":"9545_CR121","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1038\/s41419-021-03776-8","volume":"12","author":"C Brighi","year":"2021","unstructured":"Brighi C, Salaris F, Soloperto A, Cordella F, Ghirga S, de Turris V, et al. Novel fragile X syndrome 2D and 3D brain models based on human isogenic FMRP-KO iPSCs. Cell Death Dis. 2021;12(5):498.","journal-title":"Cell Death Dis"},{"issue":"7","key":"9545_CR122","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1016\/j.biopsych.2022.12.015","volume":"93","author":"Z Zhang","year":"2023","unstructured":"Zhang Z, Wang X, Park S, Song H, Ming GL. Development and application of Brain Region-Specific Organoids for investigating Psychiatric disorders. Biol Psychiatry. 2023;93(7):594\u2013605.","journal-title":"Biol Psychiatry"},{"issue":"356","key":"9545_CR123","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1080\/01621459.1976.10480949","volume":"71","author":"GEP Box","year":"1976","unstructured":"Box GEP. Science and statistics. J Am Stat Assoc. 1976;71(356):791\u20139.","journal-title":"J Am Stat Assoc"},{"issue":"11","key":"9545_CR124","doi-asserted-by":"publisher","first-page":"e7910","DOI":"10.1371\/journal.pone.0007910","volume":"4","author":"MJ den Broeder","year":"2009","unstructured":"den Broeder MJ, van der Linde H, Brouwer JR, Oostra BA, Willemsen R, Ketting RF. Generation and characterization of FMR1 knockout zebrafish. PLoS ONE. 2009;4(11):e7910.","journal-title":"PLoS ONE"},{"issue":"29","key":"9545_CR125","doi-asserted-by":"publisher","first-page":"6445","DOI":"10.1523\/JNEUROSCI.0665-18.2018","volume":"38","author":"X Wang","year":"2018","unstructured":"Wang X, Zorio DAR, Schecterson L, Lu Y, Wang Y. Postsynaptic FMRP regulates synaptogenesis in Vivo in the developing cochlear nucleus. J Neurosci. 2018;38(29):6445\u201360.","journal-title":"J Neurosci"}],"container-title":["Journal of Neurodevelopmental Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s11689-024-09545-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s11689-024-09545-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s11689-024-09545-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T03:02:54Z","timestamp":1718766174000},"score":1,"resource":{"primary":{"URL":"https:\/\/jneurodevdisorders.biomedcentral.com\/articles\/10.1186\/s11689-024-09545-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,13]]},"references-count":125,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["9545"],"URL":"https:\/\/doi.org\/10.1186\/s11689-024-09545-w","relation":{},"ISSN":["1866-1955"],"issn-type":[{"value":"1866-1955","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,13]]},"assertion":[{"value":"31 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"No human subject was used. All authors consented to participate in preparation of this manuscript.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"All authors have consented to publish this manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"30"}}