Ludovico Rizzuti

Post-translational Tuning of Human Cortical Progenitor Neuronal Output

The paper identifies phosphorylation of NEUROGENIN2 as a regulator of human radial glial cell neuronal output, leading to increased production of upper-layer neurons.

Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome

This study identifies the ADNP-KDM1A-GTF2I complex as critical for neural differentiation balance in HVDAS by repressing transposable elements and regulating gene transcription.

YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs

This study investigates how YY1 mutations disrupt corticogenesis by altering transcriptional networks in neural progenitors and neurons, with non-cell-autonomous effects on astrocytes.

De Novo, Post-Zygotic, Inter-Tissue Mosaicism of Cell Autonomous ADNP Mutations in Autistic Individuals: Restricted Environmental Contribution

The paper quantifies ADNP mutation mosaicism across tissues in a post-mortem autistic individual, showing post-zygotic, tissue-specific mutation patterns and ruling out environmental factors.

TGS1 controls snRNA 3' end processing, prevents neurodegeneration and ameliorates SMN-dependent neurological phenotypes in vivo

This study shows TGS1 is essential for snRNA 3' end processing and its loss causes neurodegeneration, which can be mitigated by human TGS1 expression in model organisms.