Topic: TFEB-mediated autophagy

Lysosomal storage disorders (LSD) are a group of rare inherited metabolic disorders caused by defects in lysosomal function. Among these, Mucopolysaccharidoses (MPS) are characterized by the loss of function of lysosomal enzymes responsible for the degradation of glycosaminoglycans (GAGs). This defect leads to the production, at the cellular level, of secondary storages comprised of undegraded proteins. In some of these syndromes, this translates into a neurodegenerative phenotype with pediatric dementia. Promoting the degradation of secondary storages is one of the most promising therapeutic