Studio delle disfunzioni trascrizionali ed epigenetiche nella sindrome di Williams Beuren e nella sindrome da microduplicazione del 7q11.23

Pubblicazioni Scientifiche

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

  TRIM50 regulates Beclin 1 proautophagic activity

• CELL

  The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development

• CLINICAL GENETICS

  A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

• HUMAN MOLECULAR GENETICS

  From enhanceropathies to the epigenetic manifold underlying human cognition

• MOLECULAR AUTISM

  High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons

• NATURE METHODS

  TRIC: an automated alignment strategy for reproducible protein quantification in targeted proteomics

• SCIENCE ADVANCES

  Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

• SCIENCE ADVANCES

  GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders