Antonia Gurgone

This study shows that CDKL5 deficiency in mice leads to sensory processing defects in the barrel cortex and autistic traits, which can be rescued by neonatal CDKL5 replacement.

This study shows CDKL5 undergoes liquid-liquid phase separation driven by its C-terminal domain, and disease mutations impair this process, reducing phosphorylation of EB2.

This study shows that mGluR5 positive-allosteric modulators correct synaptic and behavioural defects in a CDKL5 deficiency disorder mouse model and human patients.

This study shows that enhancing ERK2 signalling protects neurons and improves memory in mouse models of neurodegenerative diseases.