Nutrient sensing and metabolic signaling

The main focus of our lab is to understand how the aberrant activation of metabolic signaling pathways underlies the pathogenesis of human genetic diseases. We are particularly interested in the study of the lysosome, a key organelle with nutrient sensing and signaling functions. Mutations in genes crucial for lysosomal activity lead to a class of diseases, defined lysosomal storage disorders (LSDs), which are characterized by alterations in metabolite availability and signaling. Moreover, deregulation of lysosomal activity and metabolic signaling is often observed in cancer cells, serving as an adaptation mechanism that allows cell survival and growth in the crowded tumor microenvironment. We employ cell biology, proteomic, metabolomic and gene editing approaches to understand how cells sense and signal fluctuations in nutrient availability and how deregulation of these processes is involved in disease pathogenesis. Our ultimate goal is to leverage these findings for the discovery of novel therapeutic targets in inherited metabolic diseases and cancer. The "Total Award" amount indicated for this project represents the share of the funding of the Telethon Foundation for research by the Tigem institute from January 2022 until last budget year, calculated based on the size of the research group.