Riccardo Brambilla

The paper identifies reduced p70S6K levels in PBMCs of individuals with 16p11.2 deletion and duplication syndromes, correlating with autistic symptom severity.

The paper uses human iPSC-derived medium spiny neurons to show that 16p11.2 CNVs alter striatal neurogenesis and bias toward direct pathway neurons, linking these changes to neurodevelopmental disorders.

This study shows LRRK2 and PINK1 function in parallel neuroprotective pathways affecting ciliogenesis in Parkinson's disease, suggesting shared therapeutic targets.

The paper identifies multiple genes at the 16p11.2 locus contributing to brain size and neuroanatomical phenotypes in mice, with MVP as a key driver, and shows its interaction with ERK in regulating brain morphology and behavior.

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