Our research focuses on studying biomedically relevant genes and processes, with a particular interest in understanding the role of members of the ubiquitin family (UbLs) in the regulation of development and their association with diseases, especially rare diseases.

-We study the Townes-Brocks Syndrome, a cilopathy caused by truncations in SALL1 transcription factor, as well as other rare diseases related to the UbL family.

-We are also actively involved in the development of innovative strategies to investigate the influence of UbLs modifications on protein regulation and disease. These strategies include bioUbL (to identify proteins modified by UbLs), SUMO-ID (to identify interactors of proteins when modified by UbLs), and BioE3 (to identify bona-fide targets of E3 ligases.)

To accomplish this, we use in vivo biotinylation and mass spectrometry of proteins from human and mouse cultured cells, as well as using Drosophila melanogaster and mouse models, all leading to valuable insights for physiological and disease processes.