Scientific areas

Neurodegenerative diseases due to protein misfolding
Our research activity aims at understanding the molecular mechanisms underlying rare and ultra-rare neurodegenerative diseases due to protein misfolding.

Research activity in the field of biophysics and biochemistry of proteins and lipids aims at designing diagnostic markers and new therapeutic approaches for rare (e.g. Niemann-Pick C) and high prevalence (Alzheimer's and Parkinson's) neurodegenerative amyloid diseases. In particular, the studies are aimed at studying protein misfolding, a pathogenetic mechanism common to all these pathological conditions (top in figure). The aberrant folding of proteins causes the formation of a particular aggregate capable of damaging neuronal membranes forming pores (bottom in figure) and thus activating a cascade of events that leads to neuronal death.
 

RASopathies and RAS-MAPK related syndromes
Based on cellular and molecular biology approaches, our studies aim at the in vitro functional characterization of new GTPases variants associated to hematological and neurodevelopmental diseases (e.g. RASopathies and neurodevelopmental diseases). We essentially study protein and cell functional alterations induced by pathogenic variants in in vitro models. This activity aims at identifying new processes involved in the pathogenesis of rare diseases to promote timely diagnosis and implement patients care and management.