Emanuele Villa
- Staff Scientist, Testa Group
Publications
- 10/2022 - BioRxiv
GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
Copy number variations at 7q11.23 cause neurodevelopmental disorders with shared and opposite manifestations. Deletion causes Williams-Beuren syndrome (WBS), while duplication causes 7q11.23 microduplication syndrome (7Dup). Converging evidence indicates GTF2I, from the 7q11.23 locus, is a key mediator of the cognitive-behavioral phenotypes associated with WBS and 7Dup. Here we integrate molecular profiling of patient-derived cortical organoids (COs) […]
- 04/2022 - Cell Reports
CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories
Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause of autism spectrum disorder (ASD). While its phenotypic spectrum often encompasses macrocephaly, implicating cortical abnormalities, how CHD8 haploinsufficiency affects neurodevelopmental is unclear. Here, employing human cerebral organoids, we find that CHD8 haploinsufficiency disrupted neurodevelopmental trajectories with an accelerated and delayed generation of, respectively, inhibitory and excitatory neurons that yields, at days 60 […]
- 11/2019 - Stem Cell Reports
Human Cortical Organoids Expose a Differential Function of GSK3 on Cortical Neurogenesis