Carlo Emanuele Villa

Highlights • CHD8-mutant cerebral organoids recapitulate a macrocephaly-like phenotype • Proliferation and differentiation dynamics are affected by CHD8 mutations • CHD8 haploinsufficiency disrupts neurodevelopmental trajectories • mRNA processing in post-mitotic neurons is altered in CHD8 mutants Summary Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause of autism spectrum disorder (ASD).

Pietro Lo Riso1 na1, Carlo Emanuele Villa1 na1, Gilles Gasparoni2, Andrea Vingiani3,4, Raffaele Luongo1,5,6, Anna Manfredi7, Annemarie Jungmann2, Alessia Bertolotti4, Francesca Borgo1, Annalisa Garbi8, Michela Lupia9, Pasquale Laise1,10, Vivek Das1,11, Giancarlo Pruneri3,4, Giuseppe Viale3,5, Nicoletta Colombo8, Teresa Manzo1, Luigi Nezi1, Ugo Cavallaro9, Davide Cacchiarelli7,12, Jörn Walter2 & Giuseppe Testa1,5 Genome Medicine volume 12, Article number: 94 (2020) Cite this article Abstract...

Highlights • Cortical organoids recapitulate stereotypical neurogenic trajectories • GSK3 inhibition disrupts neuroepithelium polarity and cortical tissue organization • GSK3 activity controls oRG production and neurogenesis Summary The regulation of the proliferation and polarity of neural progenitors is crucial for the development of the brain cortex.