Daniele Capocefalo

Pubblicazioni

  • 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 […]