Carmine Settembre, PhD

TIGEM

My research has focused on the lysosome, autophagy and lysosomal storage disorders for the last 15 years. These studies led to the demonstration that the autophagic pathway is blocked in in LSDs, defining these disorders as “autophagic disorders’ (Settembre et al. 2008). Further studies I carried out demonstrated that lysosomal biogenesis and autophagosome formation are co-regulated at the transcriptional level through the activity of a master transcription factor, TFEB (Settembre et al 2011). These findings also revealed a lysosome to nucleus signaling mechanism, through which the lysosome can control its biogenesis and function in response to environmental cues (Settembre et al. 2012, 2013). Currently, I am assistant investigator at the Telethon Institute of Genetic and Medicine (TIGEM) and assistant professor at the Federico II university of Naples. The main research interest of my lab is to study the role of lysosomal and autophagy pathways during bone growth and maintenance and to develop novel therapeutic approaches for the treatment of skeletal abnormalities in genetic disorders. My laboratory has recently demonstrated that autophagy is regulated by FGF signaling during bone growth (Cinque et al. 2015, Nature) and that the modulation of autophagy and of mTORC1 signaling is therapeutically relevant for the treatment of bone growth disorders (Bartolomeo et al. 2017, Journal of Clinical Investigation).