Our team studies the cellular and molecular basis sustaining neuronal integrity, and deciphers the mechanisms underlying neurodegeneration and/or developmental defects in disease.

Using a multidisciplinary approach encompassing genetics, cell biology, and physiology, we have discovered the genetic loci and genes responsible for a number of neurological diseases, developed diagnostic tools and generated several models (patients derived cells, mouse and zebrafish) to i) tackle key cellular pathways for neuronal maintenance, and ii) design pre-clinical studies towards therapy.

Thus, we identified the gene involved in giant axonal neuropathy (GAN) and revealed key roles of the encoded Gigaxonin-E3 ligase in controlling cytoskeletal architecture, autophagy machinery and neuronal identity. Overall, our team uncovered the repertoire of the molecular and cellular alterations underlying GAN pathophysiology, and now offers potential therapeutic targets for this fatal disease. We are further expanding the study of rare neurological diseases to decipher the fundamental roles of neurofilaments and autophagy in neurobiology, and to exploit the biomedical impact of these systems in health.