Article
ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model.
Molecular psychiatry - 1 Sept 2026
Hasenpusch-Theil Kerstin, Lesayova Alexandra, Kozić Zrinko, Beltran Mariana, Wilson Grace, Henderson Neil C, Dando Owen, Theil Thomas
Abstract excerpt
Primary cilia control cell-cell signalling and their dysfunction has been implicated in Autism Spectrum Disorders (ASD) but their roles in the ASD aetiology remain largely unexplored. Here, we analysed the impact of ASD mutations in CEP41 using human cortical organoids. CEP41 encodes a centrosomal protein located at the basal body and the ciliary axoneme and is mutated in ASD individuals and in Joubert syndrome,...
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