
Marco Tullio Rigoli
- Affiliate Scientist, Testa Group
Publications
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10/2022 - BioRxiv
7q11.23 CNV alters protein synthesis and REST-mediated neuronal intrinsic excitability
Copy number variations (CNVs) at 7q11.23 cause Williams-Beuren (WBS) and 7q microduplication syndromes (7Dup), two neurodevelopmental disorders with shared and opposite cognitive-behavioral phenotypes. Using patient-derived and isogenic neurons, we integrated transcriptomics, translatomics and proteomics to elucidate the molecular underpinnings of this dosage effect. We found that 7q11.23 CNVs cause opposite alterations in neuronal differentiation and […]
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11/2019 - Stem Cell Reports
Human Cortical Organoids Expose a Differential Function of GSK3 on Cortical Neurogenesis