Experimental models of neurodegenerative diseases associated with defective autophagy

Autophagy is an intracellular degradation mechanism involved in several neurodegenerative diseases such as beta-propeller protein-associated neurodegeneration (BPAN). Mutations in the WIPI4/WDR45 gene are responsible for this disease. Our main goal is to determine the function of this protein in autophagy. WIPI proteins are evolutionarily conserved and we use a combination of a model organism (S. cerevisiae) and human cell lines (edited by CRISPR/Cas9) to analyze their function and to identify their interactome.