{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:49:36Z","timestamp":1791946176533,"version":"4.3.4"},"reference-count":166,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T00:00:00Z","timestamp":1725235200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Neurodevelopmental disorders (NDD) encompass a range of conditions marked by abnormal brain development in conjunction with impaired cognitive, emotional and behavioural functions. Transgenic animal models, mainly rodents, traditionally served as key tools for deciphering the molecular mechanisms driving NDD physiopathology and significantly contributed to the development of pharmacological interventions aimed at treating these disorders. However, the efficacy of these treatments in humans has proven to be limited, due in part to the intrinsic constraint of animal models to recapitulate the complex development and structure of the human brain but also to the phenotypic heterogeneity found between affected individuals. Significant advancements in the field of induced pluripotent stem cells (iPSCs) offer a promising avenue for overcoming these challenges. Indeed, the development of advanced differentiation protocols for generating iPSC-derived brain organoids gives an unprecedented opportunity to explore human neurodevelopment.<\/jats:p>\n               <jats:p>This review provides an overview of how 3D brain organoids have been used to investigate various NDD (i.e. Fragile X syndrome, Rett syndrome, Angelman syndrome, microlissencephaly, Prader-Willi syndrome, Timothy syndrome, tuberous sclerosis syndrome) and elucidate their pathophysiology. We also discuss the benefits and limitations of employing such innovative 3D models compared to animal models and 2D cell culture systems in the realm of personalized medicine.<\/jats:p>","DOI":"10.1093\/brain\/awae281","type":"journal-article","created":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T19:00:46Z","timestamp":1725303646000},"page":"12-26","source":"Crossref","is-referenced-by-count":20,"title":["Deciphering the physiopathology of neurodevelopmental disorders using brain organoids"],"prefix":"10.1093","volume":"148","author":[{"given":"Olivier","family":"Dionne","sequence":"first","affiliation":[{"name":"Research Center on Aging, Centre Int\u00e9gr\u00e9 Universitaire de Sant\u00e9 et Services Sociaux de l'Estrie-Centre Hospitalier Universitaire de Sherbrooke , Sherbrooke, QC J1H 4C4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salom\u00e9","family":"Sabati\u00e9","sequence":"additional","affiliation":[{"name":"Research Center on Aging, Centre Int\u00e9gr\u00e9 Universitaire de Sant\u00e9 et Services Sociaux de l'Estrie-Centre Hospitalier Universitaire de Sherbrooke , Sherbrooke, QC J1H 4C4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4032-3213","authenticated-orcid":false,"given":"Benoit","family":"Laurent","sequence":"additional","affiliation":[{"name":"Research Center on Aging, Centre Int\u00e9gr\u00e9 Universitaire de Sant\u00e9 et Services Sociaux de l'Estrie-Centre Hospitalier Universitaire de Sherbrooke , Sherbrooke, QC J1H 4C4 ,","place":["Canada"]},{"name":"Department of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke , Sherbrooke, QC J1H 5H4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,9,2]]},"reference":[{"key":"2025010718521373400_awae281-B1","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1038\/nrn2719","article-title":"Evolution of the neocortex: A perspective from developmental biology","volume":"10","author":"Rakic","year":"2009","journal-title":"Nat Rev Neurosci"},{"key":"2025010718521373400_awae281-B2","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s11065-010-9148-4","article-title":"The basics of brain development","volume":"20","author":"Stiles","year":"2010","journal-title":"Neuropsychol Rev"},{"key":"2025010718521373400_awae281-B3","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/s41583-022-00631-3","article-title":"How mechanisms of stem cell polarity shape the human cerebral cortex","volume":"23","author":"Andrews","year":"2022","journal-title":"Nat Rev Neurosci"},{"key":"2025010718521373400_awae281-B4","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/s41582-022-00723-9","article-title":"Human cerebral organoids\u2014A new tool for clinical neurology research","volume":"18","author":"Eichm\u00fcller","year":"2022","journal-title":"Nat Rev Neurol"},{"key":"2025010718521373400_awae281-B5","doi-asserted-by":"crossref","first-page":"2836","DOI":"10.1016\/j.devcel.2023.11.004","article-title":"Shaping the brain: The emergence of cortical structure and folding","volume":"58","author":"Akula","year":"2023","journal-title":"Dev Cell"},{"key":"2025010718521373400_awae281-B6","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S0166-2236(02)02156-2","article-title":"Radial glia: Multi-purpose cells for vertebrate brain development","volume":"25","author":"Campbell","year":"2002","journal-title":"Trends Neurosci"},{"key":"2025010718521373400_awae281-B7","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1146\/annurev.neuro.051508.135600","article-title":"The glial nature of embryonic and adult neural stem cells","volume":"32","author":"Kriegstein","year":"2009","journal-title":"Annu Rev Neurosci"},{"key":"2025010718521373400_awae281-B8","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/cne.21669","article-title":"Distinct behaviors of neural stem and progenitor cells underlie cortical neurogenesis","volume":"508","author":"Noctor","year":"2008","journal-title":"J Comp Neurol"},{"key":"2025010718521373400_awae281-B9","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/nn1172","article-title":"Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases","volume":"7","author":"Noctor","year":"2004","journal-title":"Nat Neurosci"},{"key":"2025010718521373400_awae281-B10","doi-asserted-by":"crossref","first-page":"3196","DOI":"10.1073\/pnas.0308600100","article-title":"Neurons arise in the basal neuroepithelium of the early mammalian telencephalon: A major site of neurogenesis","volume":"101","author":"Haubensak","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B11","doi-asserted-by":"crossref","first-page":"e2019415118","DOI":"10.1073\/pnas.2019415118","article-title":"Human intermediate progenitor diversity during cortical development","volume":"118","author":"Pebworth","year":"2021","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B12","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/nature08845","article-title":"Neurogenic radial glia in the outer subventricular zone of human neocortex","volume":"464","author":"Hansen","year":"2010","journal-title":"Nature"},{"key":"2025010718521373400_awae281-B13","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1038\/nn.2553","article-title":"OSVZ progenitors of human and ferret neocortex are epithelial-like and expand by integrin signaling","volume":"13","author":"Fietz","year":"2010","journal-title":"Nat Neurosci"},{"key":"2025010718521373400_awae281-B14","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1093\/cercor\/12.1.37","article-title":"Unique morphological features of the proliferative zones and postmitotic compartments of the neural epithelium giving rise to striate and extrastriate cortex in the monkey","volume":"12","author":"Smart","year":"2002","journal-title":"Cereb Cortex"},{"key":"2025010718521373400_awae281-B15","doi-asserted-by":"crossref","first-page":"424","DOI":"10.3389\/fnhum.2013.00424","article-title":"Conical expansion of the outer subventricular zone and the role of neocortical folding in evolution and development","volume":"7","author":"Lewitus","year":"2013","journal-title":"Front Hum Neurosci"},{"key":"2025010718521373400_awae281-B16","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.cell.2017.06.036","article-title":"Evolution of the human nervous system function, structure, and development","volume":"170","author":"Sousa","year":"2017","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B17","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.cell.2015.09.004","article-title":"Molecular identity of human outer radial glia during cortical development","volume":"163","author":"Pollen","year":"2015","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B18","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1016\/j.neuron.2019.07.009","article-title":"Development and arealization of the cerebral cortex","volume":"103","author":"Cadwell","year":"2019","journal-title":"Neuron"},{"key":"2025010718521373400_awae281-B19","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/s41576-023-00626-5","article-title":"Genetics of human brain development","volume":"25","author":"Zhou","year":"2024","journal-title":"Nat Rev Genet"},{"key":"2025010718521373400_awae281-B20","doi-asserted-by":"crossref","first-page":"eaat8077","DOI":"10.1126\/science.aat8077","article-title":"Spatiotemporal transcriptomic divergence across human and macaque brain development","volume":"362","author":"Zhu","year":"2018","journal-title":"Science"},{"key":"2025010718521373400_awae281-B21","doi-asserted-by":"crossref","first-page":"13281","DOI":"10.1073\/pnas.1105108108","article-title":"Extraordinary neoteny of synaptic spines in the human prefrontal cortex","volume":"108","author":"Petanjek","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B22","doi-asserted-by":"crossref","first-page":"E81","DOI":"10.1038\/35060164","article-title":"The cell biology of neuronal navigation","volume":"3","author":"Song","year":"2001","journal-title":"Nat Cell Biol"},{"key":"2025010718521373400_awae281-B23","doi-asserted-by":"crossref","first-page":"7089","DOI":"10.1073\/pnas.1822169116","article-title":"Gliogenesis in the outer subventricular zone promotes enlargement and gyrification of the primate cerebrum","volume":"116","author":"Rash","year":"2019","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B24","doi-asserted-by":"crossref","first-page":"108788","DOI":"10.1016\/j.celrep.2021.108788","article-title":"Heterogeneity of glial progenitor cells during the neurogenesis-to-gliogenesis switch in the developing human cerebral cortex","volume":"34","author":"Fu","year":"2021","journal-title":"Cell Rep"},{"key":"2025010718521373400_awae281-B25","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/j.cell.2014.10.011","article-title":"Dynamics of oligodendrocyte generation and myelination in the human brain","volume":"159","author":"Yeung","year":"2014","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B26","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.molmed.2018.11.005","article-title":"Microglia in central nervous system inflammation and multiple sclerosis pathology","volume":"25","author":"Voet","year":"2019","journal-title":"Trends Mol Med"},{"key":"2025010718521373400_awae281-B27","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/nrn.2016.159","article-title":"Functional diversity of astrocytes in neural circuit regulation","volume":"18","author":"Ben Haim","year":"2017","journal-title":"Nat Rev Neurosci"},{"key":"2025010718521373400_awae281-B28","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1038\/s41586-020-03060-3","article-title":"Astrocytes phagocytose adult hippocampal synapses for circuit homeostasis","volume":"590","author":"Lee","year":"2021","journal-title":"Nature"},{"key":"2025010718521373400_awae281-B29","doi-asserted-by":"crossref","first-page":"a020453","DOI":"10.1101\/cshperspect.a020453","article-title":"Oligodendrocyte development and plasticity","volume":"8","author":"Bergles","year":"2015","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2025010718521373400_awae281-B30","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S2215-0366(16)30376-5","article-title":"Neurodevelopmental disorders","volume":"4","author":"Thapar","year":"2017","journal-title":"Lancet Psychiatry"},{"key":"2025010718521373400_awae281-B31","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13034-022-00462-1","article-title":"Current state of knowledge on the prevalence of neurodevelopmental disorders in childhood according to the DSM-5: A systematic review in accordance with the PRISMA criteria","volume":"16","author":"Franc\u00e9s","year":"2022","journal-title":"Child Adolesc Psychiatry Ment Health"},{"key":"2025010718521373400_awae281-B32","doi-asserted-by":"crossref","first-page":"65","DOI":"10.31887\/DCNS.2020.22.1\/macrocq","article-title":"Neurodevelopmental disorders\u2014The history and future of a diagnostic concept","volume":"22","author":"Morris-Rosendahl","year":"2020","journal-title":"Dialogues Clin Neurosci"},{"key":"2025010718521373400_awae281-B33","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.tins.2020.05.004","article-title":"Neurodevelopmental disorders: From genetics to functional pathways","volume":"43","author":"Parenti","year":"2020","journal-title":"Trends Neurosci"},{"key":"2025010718521373400_awae281-B34","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/j.ajhg.2018.10.009","article-title":"Human models are needed for studying human neurodevelopmental disorders","volume":"103","author":"Zhao","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2025010718521373400_awae281-B35","doi-asserted-by":"crossref","first-page":"1031075","DOI":"10.3389\/fnins.2022.1031075","article-title":"Research models of neurodevelopmental disorders: The right model in the right place","volume":"16","author":"Damianidou","year":"2022","journal-title":"Front Neurosci"},{"key":"2025010718521373400_awae281-B36","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1146\/annurev-genom-090413-025600","article-title":"The diverse genetic landscape of neurodevelopmental disorders","volume":"15","author":"Hu","year":"2014","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"2025010718521373400_awae281-B37","doi-asserted-by":"crossref","first-page":"3049","DOI":"10.1016\/j.apsb.2022.02.002","article-title":"Why 90% of clinical drug development fails and how to improve it?","volume":"12","author":"Sun","year":"2022","journal-title":"Acta Pharm Sin B"},{"key":"2025010718521373400_awae281-B38","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of pluripotent stem cells from adult human fibroblasts by defined factors","volume":"131","author":"Takahashi","year":"2007","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B39","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1126\/science.282.5391.1145","article-title":"Embryonic stem cell lines derived from human blastocysts","volume":"282","author":"Thomson","year":"1998","journal-title":"Science"},{"key":"2025010718521373400_awae281-B40","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/nrd.2016.245","article-title":"Induced pluripotent stem cell technology: A decade of progress","volume":"16","author":"Shi","year":"2017","journal-title":"Nat Rev Drug Discov"},{"key":"2025010718521373400_awae281-B41","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13024-018-0258-4","article-title":"2D versus 3D human induced pluripotent stem cell-derived cultures for neurodegenerative disease modelling","volume":"13","author":"Centeno","year":"2018","journal-title":"Mol Neurodegener"},{"key":"2025010718521373400_awae281-B42","doi-asserted-by":"crossref","first-page":"3369","DOI":"10.1016\/j.celrep.2016.12.001","article-title":"Cerebral organoids recapitulate epigenomic signatures of the human fetal brain","volume":"17","author":"Luo","year":"2016","journal-title":"Cell Rep"},{"key":"2025010718521373400_awae281-B43","doi-asserted-by":"crossref","first-page":"303","DOI":"10.3389\/fcell.2019.00303","article-title":"Human cerebral organoids and fetal brain tissue share proteomic similarities","volume":"7","author":"Nascimento","year":"2019","journal-title":"Front Cell Dev Biol"},{"key":"2025010718521373400_awae281-B44","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/nature12517","article-title":"Cerebral organoids model human brain development and microcephaly","volume":"501","author":"Lancaster","year":"2013","journal-title":"Nature"},{"key":"2025010718521373400_awae281-B45","doi-asserted-by":"crossref","first-page":"26","DOI":"10.15283\/ijsc22006","article-title":"Region specific brain organoids to study neurodevelopmental disorders","volume":"15","author":"Susaimanickam","year":"2022","journal-title":"Int J Stem Cells"},{"key":"2025010718521373400_awae281-B46","doi-asserted-by":"crossref","first-page":"dev166074","DOI":"10.1242\/dev.166074","article-title":"Brain organoids: Advances, applications and challenges","volume":"146","author":"Qian","year":"2019","journal-title":"Development"},{"key":"2025010718521373400_awae281-B47","doi-asserted-by":"crossref","first-page":"17065","DOI":"10.1038\/nrdp.2017.65","article-title":"Fragile X syndrome","volume":"3","author":"Hagerman","year":"2017","journal-title":"Nat Rev Dis Primers"},{"key":"2025010718521373400_awae281-B48","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s13052-017-0355-y","article-title":"Fragile X syndrome: A review of clinical and molecular diagnoses","volume":"43","author":"Ciaccio","year":"2017","journal-title":"Ital J Pediatr"},{"key":"2025010718521373400_awae281-B49","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/0092-8674(91)90125-I","article-title":"Absence of expression of the FMR-1 gene in fragile X syndrome","volume":"66","author":"Pieretti","year":"1991","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B50","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","article-title":"Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome","volume":"65","author":"Verkerk","year":"1991","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B51","first-page":"433","article-title":"An \u201comic\u201d overview of fragile X syndrome","volume":"10","author":"Dionne","year":"2021","journal-title":"Biology (Basel)"},{"key":"2025010718521373400_awae281-B52","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/s41583-021-00432-0","article-title":"The molecular biology of FMRP: New insights into fragile X syndrome","volume":"22","author":"Richter","year":"2021","journal-title":"Nat Rev Neurosci"},{"key":"2025010718521373400_awae281-B53","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.cell.2011.06.013","article-title":"FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism","volume":"146","author":"Darnell","year":"2011","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B54","doi-asserted-by":"crossref","first-page":"e0251367","DOI":"10.1371\/journal.pone.0251367","article-title":"Rates of protein synthesis are reduced in peripheral blood mononuclear cells (PBMCs) from fragile X individuals","volume":"16","author":"Dionne","year":"2021","journal-title":"PLoS One"},{"key":"2025010718521373400_awae281-B55","doi-asserted-by":"crossref","first-page":"15148","DOI":"10.1038\/s41598-021-94027-5","article-title":"A new strategy to uncover fragile X proteomic biomarkers using the nascent proteome of peripheral blood mononuclear cells (PBMCs)","volume":"11","author":"Dionne","year":"2021","journal-title":"Sci Rep"},{"key":"2025010718521373400_awae281-B56","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1126\/science.aas9963","article-title":"Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins","volume":"361","author":"Greenblatt","year":"2018","journal-title":"Science"},{"key":"2025010718521373400_awae281-B57","doi-asserted-by":"crossref","first-page":"113","DOI":"10.3389\/fmolb.2018.00113","article-title":"Fragile X mental retardation protein: To be or not to be a translational enhancer","volume":"5","author":"Maurin","year":"2018","journal-title":"Front Mol Biosci"},{"key":"2025010718521373400_awae281-B58","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s13229-020-00350-5","article-title":"Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment","volume":"11","author":"Utami","year":"2020","journal-title":"Mol Autism"},{"key":"2025010718521373400_awae281-B59","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.tins.2004.04.009","article-title":"The mGluR theory of fragile X mental retardation","volume":"27","author":"Bear","year":"2004","journal-title":"Trends Neurosci"},{"key":"2025010718521373400_awae281-B60","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.neuropharm.2014.06.028","article-title":"Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials","volume":"88","author":"Braat","year":"2015","journal-title":"Neuropharmacology"},{"key":"2025010718521373400_awae281-B61","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.bbr.2012.01.031","article-title":"Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model","volume":"229","author":"Heulens","year":"2012","journal-title":"Behav Brain Res"},{"key":"2025010718521373400_awae281-B62","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.nbd.2008.04.002","article-title":"Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice","volume":"31","author":"de Vrij","year":"2008","journal-title":"Neurobiol Dis"},{"key":"2025010718521373400_awae281-B63","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s11689-016-9181-6","article-title":"Arbaclofen in fragile X syndrome: Results of phase 3 trials","volume":"9","author":"Berry-Kravis","year":"2017","journal-title":"J Neurodev Disord"},{"key":"2025010718521373400_awae281-B64","doi-asserted-by":"crossref","first-page":"16970","DOI":"10.1038\/s41598-018-34978-4","article-title":"Mavoglurant in fragile X syndrome: Results of two open-label, extension trials in adults and adolescents","volume":"8","author":"Hagerman","year":"2018","journal-title":"Sci Rep"},{"key":"2025010718521373400_awae281-B65","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1038\/s41419-021-03776-8","article-title":"Novel fragile X syndrome 2D and 3D brain models based on human isogenic FMRP-KO iPSCs","volume":"12","author":"Brighi","year":"2021","journal-title":"Cell Death Dis"},{"key":"2025010718521373400_awae281-B66","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1002\/glia.24331","article-title":"Dysregulated cholesterol metabolism, aberrant excitability and altered cell cycle of astrocytes in fragile X syndrome","volume":"71:","author":"Ren","year":"2023","journal-title":"Glia"},{"key":"2025010718521373400_awae281-B67","doi-asserted-by":"crossref","first-page":"758","DOI":"10.3390\/cells12050758","article-title":"Age-dependent dysregulation of APP in neuronal and skin cells from fragile X individuals","volume":"12","author":"Cencelli","year":"2023","journal-title":"Cells"},{"key":"2025010718521373400_awae281-B68","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.neuron.2015.06.032","article-title":"Dysregulated ADAM10-mediated processing of APP during a critical time window leads to synaptic deficits in fragile X syndrome","volume":"87","author":"Pasciuto","year":"2015","journal-title":"Neuron"},{"key":"2025010718521373400_awae281-B69","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1016\/j.neuron.2019.02.041","article-title":"A synaptic perspective of fragile X syndrome and autism spectrum disorders","volume":"101","author":"Bagni","year":"2019","journal-title":"Neuron"},{"key":"2025010718521373400_awae281-B70","doi-asserted-by":"crossref","first-page":"108991","DOI":"10.1016\/j.celrep.2021.108991","article-title":"Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis","volume":"35","author":"Raj","year":"2021","journal-title":"Cell Rep"},{"key":"2025010718521373400_awae281-B71","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1038\/s41593-021-00913-6","article-title":"A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies","volume":"24","author":"Kang","year":"2021","journal-title":"Nat Neurosci"},{"key":"2025010718521373400_awae281-B72","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat Genet"},{"key":"2025010718521373400_awae281-B73","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: Revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann Neurol"},{"key":"2025010718521373400_awae281-B74","first-page":"e3414","article-title":"Rett syndrome in males: A case report and review of literature","volume":"10","author":"Chahil","year":"2018","journal-title":"Cureus"},{"key":"2025010718521373400_awae281-B75","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.jpeds.2005.10.037","article-title":"Rett syndrome in Australia: A review of the epidemiology","volume":"148","author":"Laurvick","year":"2006","journal-title":"J Pediatr"},{"key":"2025010718521373400_awae281-B76","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1177\/1073858403260995","article-title":"Rett syndrome: A prototypical neurodevelopmental disorder","volume":"10","author":"Neul","year":"2004","journal-title":"Neuroscientist"},{"key":"2025010718521373400_awae281-B77","doi-asserted-by":"crossref","first-page":"1172805","DOI":"10.3389\/fnins.2023.1172805","article-title":"Advanced genetic therapies for the treatment of Rett syndrome: State of the art and future perspectives","volume":"17","author":"Palmieri","year":"2023","journal-title":"Front Neurosci"},{"key":"2025010718521373400_awae281-B78","doi-asserted-by":"crossref","first-page":"2914","DOI":"10.1172\/JCI78167","article-title":"MECP2 disorders: From the clinic to mice and back","volume":"125","author":"Lombardi","year":"2015","journal-title":"J Clin Invest"},{"key":"2025010718521373400_awae281-B79","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/jnc.15331","article-title":"MECP2 and the biology of MECP2 duplication syndrome","volume":"159","author":"D'Mello","year":"2021","journal-title":"J Neurochem"},{"key":"2025010718521373400_awae281-B80","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1038\/nn.3434","article-title":"Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR\/SMRT co-repressor","volume":"16","author":"Lyst","year":"2013","journal-title":"Nat Neurosci"},{"key":"2025010718521373400_awae281-B81","doi-asserted-by":"crossref","first-page":"17551","DOI":"10.1073\/pnas.0507856102","article-title":"Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2","volume":"102","author":"Young","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B82","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1471-2350-8-36","article-title":"Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets","volume":"8","author":"Jordan","year":"2007","journal-title":"BMC Med Genet"},{"key":"2025010718521373400_awae281-B83","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.4161\/rna.24286","article-title":"Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model","volume":"10","author":"Petazzi","year":"2013","journal-title":"RNA Biol"},{"key":"2025010718521373400_awae281-B84","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1186\/s13287-022-03216-0","article-title":"KW-2449 and VPA exert therapeutic effects on human neurons and cerebral organoids derived from MECP2-null hESCs","volume":"13","author":"Xu","year":"2022","journal-title":"Stem Cell Res Ther"},{"key":"2025010718521373400_awae281-B85","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1002\/acn3.51799","article-title":"MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid","volume":"10","author":"Hong","year":"2023","journal-title":"Ann Clin Transl Neurol"},{"key":"2025010718521373400_awae281-B86","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1038\/mp.2017.86","article-title":"MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling","volume":"23","author":"Mellios","year":"2018","journal-title":"Mol Psychiatry"},{"key":"2025010718521373400_awae281-B87","doi-asserted-by":"crossref","first-page":"610427","DOI":"10.3389\/fcell.2020.610427","article-title":"Modeling Rett syndrome with human patient-specific forebrain organoids","volume":"8","author":"Gomes","year":"2020","journal-title":"Front Cell Dev Biol"},{"key":"2025010718521373400_awae281-B88","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/nmeth.4304","article-title":"Fused cerebral organoids model interactions between brain regions","volume":"14","author":"Bagley","year":"2017","journal-title":"Nat Methods"},{"key":"2025010718521373400_awae281-B89","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.stem.2017.07.007","article-title":"Fusion of regionally specified hPSC-derived organoids models human brain development and interneuron migration","volume":"21","author":"Xiang","year":"2017","journal-title":"Cell Stem Cell"},{"key":"2025010718521373400_awae281-B90","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.stem.2019.08.002","article-title":"Complex oscillatory waves emerging from cortical organoids model early human brain network development","volume":"25","author":"Trujillo","year":"2019","journal-title":"Cell Stem Cell"},{"key":"2025010718521373400_awae281-B91","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1038\/s41593-021-00906-5","article-title":"Identification of neural oscillations and epileptiform changes in human brain organoids","volume":"24","author":"Samarasinghe","year":"2021","journal-title":"Nat Neurosci"},{"key":"2025010718521373400_awae281-B92","doi-asserted-by":"crossref","first-page":"5114","DOI":"10.3390\/jcm12155114","article-title":"Trofinetide for Rett syndrome: Highlights on the development and related inventions of the first USFDA-approved treatment for rare pediatric unmet medical need","volume":"12","author":"Hudu","year":"2023","journal-title":"J Clin Med"},{"key":"2025010718521373400_awae281-B93","doi-asserted-by":"crossref","first-page":"e12523","DOI":"10.15252\/emmm.202012523","article-title":"Pharmacological reversal of synaptic and network pathology in human MECP2-KO neurons and cortical organoids","volume":"13","author":"Trujillo","year":"2021","journal-title":"EMBO Mol Med"},{"key":"2025010718521373400_awae281-B94","doi-asserted-by":"crossref","first-page":"20170321","DOI":"10.1098\/rstb.2017.0321","article-title":"Mechanics of cortical folding: Stress, growth and stability","volume":"373","author":"Garcia","year":"2018","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"key":"2025010718521373400_awae281-B95","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.bbr.2015.03.018","article-title":"Cortical gyrification and its relationships with cortical volume, cortical thickness, and cognitive performance in healthy mid-life adults","volume":"287","author":"Gautam","year":"2015","journal-title":"Behav Brain Res"},{"key":"2025010718521373400_awae281-B96","doi-asserted-by":"crossref","first-page":"3156","DOI":"10.1073\/pnas.1715451115","article-title":"Dynamic patterns of cortical expansion during folding of the preterm human brain","volume":"115","author":"Garcia","year":"2018","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B97","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/nrn3707","article-title":"Growth and folding of the mammalian cerebral cortex: From molecules to malformations","volume":"15","author":"Sun","year":"2014","journal-title":"Nat Rev Neurosci"},{"key":"2025010718521373400_awae281-B98","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.cell.2006.12.021","article-title":"Trekking across the brain: The journey of neuronal migration","volume":"128","author":"Ayala","year":"2007","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B99","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/j.semcdb.2010.07.008","article-title":"Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies","volume":"21","author":"Wynshaw-Boris","year":"2010","journal-title":"Semin Cell Dev Biol"},{"key":"2025010718521373400_awae281-B100","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1146\/annurev-pathmechdis-012418-012927","article-title":"Malformations of cerebral cortex development: Molecules and mechanisms","volume":"14","author":"Juric-Sekhar","year":"2019","journal-title":"Annu Rev Pathol"},{"key":"2025010718521373400_awae281-B101","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/ajmg.c.31402","article-title":"The genetics of lissencephaly","volume":"166C","author":"Fry","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025010718521373400_awae281-B102","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/s41567-018-0046-7","article-title":"Human brain organoids on a chip reveal the physics of folding","volume":"14","author":"Karzbrun","year":"2018","journal-title":"Nat Phys"},{"key":"2025010718521373400_awae281-B103","doi-asserted-by":"crossref","first-page":"2420","DOI":"10.4103\/1673-5374.335789","article-title":"Engineering cerebral folding in brain organoids","volume":"17","author":"Scott","year":"2022","journal-title":"Neural Regen Res"},{"key":"2025010718521373400_awae281-B104","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/S0022-3476(83)80183-8","article-title":"Miller-Dieker syndrome: Lissencephaly and monosomy 17p","volume":"102","author":"Dobyns","year":"1983","journal-title":"J Pediatr"},{"key":"2025010718521373400_awae281-B105","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.cell.2008.01.026","article-title":"Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division","volume":"132","author":"Yingling","year":"2008","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B106","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng.302","article-title":"Increased LIS1 expression affects human and mouse brain development","volume":"41","author":"Bi","year":"2009","journal-title":"Nat Genet"},{"key":"2025010718521373400_awae281-B107","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.celrep.2017.03.047","article-title":"An organoid-based model of cortical development identifies non-cell-autonomous defects in Wnt signaling contributing to Miller-Dieker syndrome","volume":"19","author":"Iefremova","year":"2017","journal-title":"Cell Rep"},{"key":"2025010718521373400_awae281-B108","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.stem.2016.12.007","article-title":"Human iPSC-derived cerebral organoids model cellular features of lissencephaly and reveal prolonged mitosis of outer radial glia","volume":"20","author":"Bershteyn","year":"2017","journal-title":"Cell Stem Cell"},{"key":"2025010718521373400_awae281-B109","doi-asserted-by":"crossref","first-page":"1006037","DOI":"10.3389\/fnins.2022.1006037","article-title":"Radial glia and radial glia-like cells: Their role in neurogenesis and regeneration","volume":"16","author":"Miranda-Negr\u00f3n","year":"2022","journal-title":"Front Neurosci"},{"key":"2025010718521373400_awae281-B110","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/0092-8674(93)90377-3","article-title":"Identification of katanin, an ATPase that severs and disassembles stable microtubules","volume":"75","author":"McNally","year":"1993","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B111","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0092-8674(00)81578-0","article-title":"Katanin, a microtubule-severing protein, is a novel AAA ATPase that targets to the centrosome using a WD40-containing subunit","volume":"93","author":"Hartman","year":"1998","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B112","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1016\/j.neuron.2014.12.014","article-title":"Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors","volume":"84","author":"Mishra-Gorur","year":"2014","journal-title":"Neuron"},{"key":"2025010718521373400_awae281-B113","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1016\/j.neuron.2014.12.017","article-title":"Katanin p80 regulates human cortical development by limiting centriole and cilia number","volume":"84","author":"Hu","year":"2014","journal-title":"Neuron"},{"key":"2025010718521373400_awae281-B114","doi-asserted-by":"crossref","first-page":"39902","DOI":"10.1038\/srep39902","article-title":"Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics","volume":"7","author":"Jin","year":"2017","journal-title":"Sci Rep"},{"key":"2025010718521373400_awae281-B115","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.cell.2004.09.011","article-title":"Cav1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism","volume":"119","author":"Splawski","year":"2004","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B116","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1073\/pnas.0710501105","article-title":"The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels","volume":"105","author":"Barrett","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B117","doi-asserted-by":"crossref","first-page":"8089","DOI":"10.1073\/pnas.0502506102","article-title":"Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations","volume":"102","author":"Splawski","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B118","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1146\/annurev-neuro-111020-090812","article-title":"Challenges of organoid research","volume":"45","author":"Andrews","year":"2022","journal-title":"Annu Rev Neurosci"},{"key":"2025010718521373400_awae281-B119","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/s41586-022-05277-w","article-title":"Maturation and circuit integration of transplanted human cortical organoids","volume":"610","author":"Revah","year":"2022","journal-title":"Nature"},{"key":"2025010718521373400_awae281-B120","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/nature22330","article-title":"Assembly of functionally integrated human forebrain spheroids","volume":"545","author":"Birey","year":"2017","journal-title":"Nature"},{"key":"2025010718521373400_awae281-B121","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.stem.2021.11.011","article-title":"Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome","volume":"29","author":"Birey","year":"2022","journal-title":"Cell Stem Cell"},{"key":"2025010718521373400_awae281-B122","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.cell.2019.01.043","article-title":"Genomic imprinting and physiological processes in mammals","volume":"176","author":"Tucci","year":"2019","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B123","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/s41576-018-0092-0","article-title":"Genomic imprinting disorders: Lessons on how genome, epigenome and environment interact","volume":"20","author":"Monk","year":"2019","journal-title":"Nat Rev Genet"},{"key":"2025010718521373400_awae281-B124","doi-asserted-by":"crossref","first-page":"4726","DOI":"10.3390\/ijms21134726","article-title":"Clinical assessment, genetics, and treatment approaches in autism spectrum disorder (ASD)","volume":"21","author":"Genovese","year":"2020","journal-title":"Int J Mol Sci"},{"key":"2025010718521373400_awae281-B125","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng0197-70","article-title":"UBE3A\/E6-AP mutations cause Angelman syndrome","volume":"15","author":"Kishino","year":"1997","journal-title":"Nat Genet"},{"key":"2025010718521373400_awae281-B126","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.2217\/epi.15.70","article-title":"Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders","volume":"7","author":"LaSalle","year":"2015","journal-title":"Epigenomics"},{"key":"2025010718521373400_awae281-B127","doi-asserted-by":"crossref","first-page":"476","DOI":"10.3389\/fnmol.2018.00476","article-title":"UBE3A: An E3 ubiquitin ligase with genome-wide impact in neurodevelopmental disease","volume":"11","author":"Lopez","year":"2019","journal-title":"Front Mol Neurosci"},{"key":"2025010718521373400_awae281-B128","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1007\/s13311-015-0361-y","article-title":"Angelman syndrome","volume":"12","author":"Margolis","year":"2015","journal-title":"Neurotherapeutics"},{"key":"2025010718521373400_awae281-B129","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1126\/science.aav5386","article-title":"Potassium channel dysfunction in human neuronal models of Angelman syndrome","volume":"366","author":"Sun","year":"2019","journal-title":"Science"},{"key":"2025010718521373400_awae281-B130","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.stemcr.2020.08.006","article-title":"Human cerebral organoids reveal early spatiotemporal dynamics and pharmacological responses of UBE3A","volume":"15","author":"Sen","year":"2020","journal-title":"Stem Cell Reports"},{"key":"2025010718521373400_awae281-B131","doi-asserted-by":"crossref","first-page":"207","DOI":"10.2174\/1573396315666190716120925","article-title":"Prader-Willi syndrome\u2014Clinical genetics, diagnosis and treatment approaches: An update","volume":"15","author":"Butler","year":"2019","journal-title":"Curr Pediatr Rev"},{"key":"2025010718521373400_awae281-B132","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.neuron.2017.06.014","article-title":"Toward a wiring diagram understanding of appetite control","volume":"95","author":"Andermann","year":"2017","journal-title":"Neuron"},{"key":"2025010718521373400_awae281-B133","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1007\/s40618-015-0312-9","article-title":"Prader-Willi syndrome: A review of clinical, genetic, and endocrine findings","volume":"38","author":"Angulo","year":"2015","journal-title":"J Endocrinol Invest"},{"key":"2025010718521373400_awae281-B134","doi-asserted-by":"crossref","first-page":"e1003207","DOI":"10.1371\/journal.pgen.1003207","article-title":"Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice","volume":"9","author":"Mercer","year":"2013","journal-title":"PLoS Genet"},{"key":"2025010718521373400_awae281-B135","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/j.stem.2021.04.006","article-title":"Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells","volume":"28","author":"Huang","year":"2021","journal-title":"Cell Stem Cell"},{"key":"2025010718521373400_awae281-B136","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1056\/NEJMra055323","article-title":"The tuberous sclerosis complex","volume":"355","author":"Crino","year":"2006","journal-title":"N Engl J Med"},{"key":"2025010718521373400_awae281-B137","doi-asserted-by":"crossref","first-page":"13571","DOI":"10.1073\/pnas.202476899","article-title":"Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling","volume":"99","author":"Tee","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B138","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1016\/j.cell.2017.02.004","article-title":"mTOR signaling in growth, metabolism, and disease","volume":"168","author":"Saxton","year":"2017","journal-title":"Cell"},{"key":"2025010718521373400_awae281-B139","doi-asserted-by":"crossref","first-page":"16035","DOI":"10.1038\/nrdp.2016.35","article-title":"Tuberous sclerosis complex","volume":"2","author":"Henske","year":"2016","journal-title":"Nat Rev Dis Primers"},{"key":"2025010718521373400_awae281-B140","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/S1474-4422(15)00069-1","article-title":"Neurological and neuropsychiatric aspects of tuberous sclerosis complex","volume":"14","author":"Curatolo","year":"2015","journal-title":"Lancet Neurol"},{"key":"2025010718521373400_awae281-B141","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1111\/epi.12545","article-title":"Developmental brain abnormalities in tuberous sclerosis complex: A comparative tissue analysis of cortical tubers and perituberal cortex","volume":"55","author":"Ruppe","year":"2014","journal-title":"Epilepsia"},{"key":"2025010718521373400_awae281-B142","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1212\/01.wnl.0000280579.04974.c0","article-title":"Cognitive impairment in tuberous sclerosis complex is a multifactorial condition","volume":"70","author":"Jansen","year":"2008","journal-title":"Neurology"},{"key":"2025010718521373400_awae281-B143","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1093\/hmg\/ddp025","article-title":"Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse","volume":"18","author":"Way","year":"2009","journal-title":"Hum Mol Genet"},{"key":"2025010718521373400_awae281-B144","doi-asserted-by":"crossref","first-page":"E1070","DOI":"10.1073\/pnas.1106454108","article-title":"Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex","volume":"108","author":"Goto","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025010718521373400_awae281-B145","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s00401-013-1085-x","article-title":"Evolving neurobiology of tuberous sclerosis complex","volume":"125","author":"Crino","year":"2013","journal-title":"Acta Neuropathol"},{"key":"2025010718521373400_awae281-B146","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1093\/hmg\/ddq491","article-title":"Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex","volume":"20","author":"Zeng","year":"2011","journal-title":"Hum Mol Genet"},{"key":"2025010718521373400_awae281-B147","doi-asserted-by":"crossref","first-page":"5546","DOI":"10.1523\/JNEUROSCI.5540-06.2007","article-title":"A mouse model of tuberous sclerosis: Neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival","volume":"27","author":"Meikle","year":"2007","journal-title":"J Neurosci"},{"key":"2025010718521373400_awae281-B148","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1038\/s41591-018-0139-y","article-title":"Genetically engineered human cortical spheroid models of tuberous sclerosis","volume":"24","author":"Blair","year":"2018","journal-title":"Nat Med"},{"key":"2025010718521373400_awae281-B149","doi-asserted-by":"crossref","first-page":"15816","DOI":"10.1038\/ncomms15816","article-title":"The genomic landscape of tuberous sclerosis complex","volume":"8","author":"Martin","year":"2017","journal-title":"Nat Commun"},{"key":"2025010718521373400_awae281-B150","doi-asserted-by":"crossref","first-page":"eabf5546","DOI":"10.1126\/science.abf5546","article-title":"Amplification of human interneuron progenitors promotes brain tumors and neurological defects","volume":"375","author":"Eichm\u00fcller","year":"2022","journal-title":"Science"},{"key":"2025010718521373400_awae281-B151","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1007\/s12264-023-01065-2","article-title":"Advances and applications of brain organoids","volume":"39","author":"Li","year":"2023","journal-title":"Neurosci Bull"},{"key":"2025010718521373400_awae281-B152","doi-asserted-by":"crossref","first-page":"e80373","DOI":"10.7554\/eLife.80373","article-title":"Getting the right cells","volume":"11","author":"Cakir","year":"2022","journal-title":"Elife"},{"key":"2025010718521373400_awae281-B153","doi-asserted-by":"crossref","first-page":"e76707","DOI":"10.7554\/eLife.76707","article-title":"Generation of vascularized brain organoids to study neurovascular interactions","volume":"11","author":"Sun","year":"2022","journal-title":"Elife"},{"key":"2025010718521373400_awae281-B154","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/s41392-023-01588-0","article-title":"Microglia in neurodegenerative diseases: Mechanism and potential therapeutic targets","volume":"8","author":"Gao","year":"2023","journal-title":"Signal Transduct Target Ther"},{"key":"2025010718521373400_awae281-B155","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41380-022-01892-1","article-title":"Microglia-containing human brain organoids for the study of brain development and pathology","volume":"28","author":"Zhang","year":"2023","journal-title":"Mol Psychiatry"},{"key":"2025010718521373400_awae281-B156","doi-asserted-by":"crossref","first-page":"1188905","DOI":"10.3389\/fcell.2023.1188905","article-title":"Merits and challenges of iPSC-derived organoids for clinical applications","volume":"11","author":"Xu","year":"2023","journal-title":"Front Cell Dev Biol"},{"key":"2025010718521373400_awae281-B157","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1007\/s11948-015-9693-6","article-title":"Some ethical concerns about human induced pluripotent stem cells","volume":"22","author":"Zheng","year":"2016","journal-title":"Sci Eng Ethics"},{"key":"2025010718521373400_awae281-B158","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/j.stem.2016.04.013","article-title":"Induced pluripotent stem cells meet genome editing","volume":"18","author":"Hockemeyer","year":"2016","journal-title":"Cell Stem Cell"},{"key":"2025010718521373400_awae281-B159","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/j.omtn.2020.12.012","article-title":"Engineering of human induced pluripotent stem cells via human artificial chromosome vectors for cell therapy and disease modeling","volume":"23","author":"Kazuki","year":"2021","journal-title":"Mol Ther Nucleic Acids"},{"key":"2025010718521373400_awae281-B160","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/s41392-024-01809-0","article-title":"Induced pluripotent stem cells (iPSCs): Molecular mechanisms of induction and applications","volume":"9","author":"Cerneckis","year":"2024","journal-title":"Signal Transduct Target Ther"},{"key":"2025010718521373400_awae281-B161","doi-asserted-by":"crossref","first-page":"e1002085","DOI":"10.1371\/journal.pgen.1002085","article-title":"DNA methylation dynamics in human induced pluripotent stem cells over time","volume":"7","author":"Nishino","year":"2011","journal-title":"PLoS Genet"},{"key":"2025010718521373400_awae281-B162","doi-asserted-by":"crossref","first-page":"4","DOI":"10.3389\/fcvm.2018.00004","article-title":"Age is relative\u2014Impact of donor age on induced pluripotent stem cell-derived cell functionality","volume":"5","author":"Str\u00e4ssler","year":"2018","journal-title":"Front Cardiovasc Med"},{"key":"2025010718521373400_awae281-B163","first-page":"e000043","article-title":"Induced pluripotent stem cells for cardiovascular disease modeling and precision medicine: A scientific statement from the American Heart Association","volume":"11","author":"Musunuru","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"2025010718521373400_awae281-B164","doi-asserted-by":"crossref","first-page":"e00784","DOI":"10.1016\/j.btre.2023.e00784","article-title":"Characterization of human induced pluripotent stems cells: Current approaches, challenges, and future solutions","volume":"37","author":"Suresh Babu","year":"2023","journal-title":"Biotechnol Rep (Amst)"},{"key":"2025010718521373400_awae281-B165","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1038\/nature22047","article-title":"Cell diversity and network dynamics in photosensitive human brain organoids","volume":"545","author":"Quadrato","year":"2017","journal-title":"Nature"},{"key":"2025010718521373400_awae281-B166","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1002\/acn3.505","article-title":"Translational potential of human brain organoids","volume":"5","author":"Sun","year":"2018","journal-title":"Ann Clin Transl Neurol"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awae281\/61019210\/awae281.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/1\/12\/61019210\/awae281.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/1\/12\/61019210\/awae281.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T19:17:19Z","timestamp":1736277439000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/148\/1\/12\/7747822"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,2]]},"references-count":166,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,9,2]]},"published-print":{"date-parts":[[2025,1,7]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awae281","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,1]]},"published":{"date-parts":[[2024,9,2]]}}}