Team:
Flavio di Pisa
Collaborations:
Ospedale San Raffaele, UNIMI
Neuroferritinopathy (NF) is a rare autosomal dominant neurodegenerative disease caused by mutations in FTL and, more recently, FTH1, encoding ferritin subunits. These variants disrupt ferritin assembly and iron storage, leading to brain iron accumulation, oxidative stress, and progressive neurodegeneration, particularly in the basal ganglia.
This project aims to define the structural and molecular defects of pathogenic ferritin variants underlying iron dyshomeostasis. Using an integrated structural biology approach combined with biochemical, biophysical, and computational methods, we investigate how these alterations impair iron handling. The results will provide a framework for structure-based therapeutic strategies targeting ferritin dysfunction in neuroferritinopathy.
