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Here, we analysed the impact of ASD mutations in\n                    <jats:italic>CEP41<\/jats:italic>\n                    using human cortical organoids.\n                    <jats:italic>CEP41<\/jats:italic>\n                    encodes a centrosomal protein located at the basal body and the ciliary axoneme and is mutated in ASD individuals and in Joubert syndrome, a ciliopathy with high incidence of ASD. To gain insights into\n                    <jats:italic>CEP41<\/jats:italic>\n                    \u2019s role in ASD aetiology, we characterised human cortical organoids carrying the\n                    <jats:italic>CEP41<\/jats:italic>\n                    R242H point mutations found in ASD individuals. This mutation did not interfere with CEP41\u2019s ciliary localisation but cilia were shorter and had lower levels of tubulin polyglutamylation, which is indicative of altered cilia stability and signalling. Moreover, scRNAseq analyses revealed that the expression of several transcription factors with critical roles in interneuron development was altered in mutant interneurons and their progenitors. The\n                    <jats:italic>CEP41<\/jats:italic>\n                    mutation also caused an augmented formation of upper layer cortical neurons. Taken together, these findings indicate that\n                    <jats:italic>CEP41<\/jats:italic>\n                    controls excitatory and inhibitory neuron differentiation, alterations in which might lead to an excitation\/inhibition imbalance that is widely recognized as a convergent mechanism underlying neurodevelopmental disorders.\n                  <\/jats:p>","DOI":"10.1038\/s41380-026-03615-2","type":"journal-article","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T10:59:42Z","timestamp":1777892382000},"page":"5265-5278","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model"],"prefix":"10.1038","volume":"31","author":[{"given":"Kerstin","family":"Hasenpusch-Theil","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-7073-8049","authenticated-orcid":false,"given":"Alexandra","family":"Lesayova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9203-9855","authenticated-orcid":false,"given":"Zrinko","family":"Kozi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Beltran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil C.","family":"Henderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6269-6408","authenticated-orcid":false,"given":"Owen","family":"Dando","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6590-8309","authenticated-orcid":false,"given":"Thomas","family":"Theil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,4]]},"reference":[{"key":"3615_CR1","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1007\/s00401-017-1736-4","volume":"134","author":"M Varghese","year":"2017","unstructured":"Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, et al. 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The human pluripotent stem cell-lines used in this study were obtained with full Ethical\/Institutional Review Board approval by the University of Edinburgh. The study does not involve human participants or utilize data from humans.","order":1,"name":"Ethics","label":"Ethics approval","group":{"name":"EthicsHeading","label":"Ethics"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Ethics"}}]}}