Our team studies the cellular and molecular basis sustaining neuronal integrity, and deciphers the mechanisms underlying neurodegeneration and/or developmental defects in disease.
Initially focused on a fatal neurodegenerative disease called GAN (giant axonal neuropathy), we identified the encoded Gigaxonin-E3 ligase and uncovered its pivotal roles in controlling cytoskeletal architecture (Intermediate Filaments), autophagy machinery (ATG16L1) and neuronal identity (Shh signaling through Ptch). Our scientific direction is to further tackle the biology of neuromuscular diseases. Specifically, we aim to unravel the regulations and functions of i) the cytoskeleton and ii) the autophagy pathway in normal neuronal physiology and disease states, and then translate this knowledge into therapies.
Our team is strongly engaged in the dissemination of science (fundamental & translational), and organizes/participates to numerous events for the public and patients.