Sergio R. Padilla-Lopez

This study shows that altering eIF2α phosphorylation in Drosophila models induces dystonia-like movements with cholinergic and D2-receptor origins and altered neuronal connectivity.

The paper describes three patients with AGAP1 deletion variants and uses a Drosophila model to identify endolysosomal trafficking defects and stress response abnormalities linked to neurodevelopmental disorders.