Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech, Chiara Folland, Tanja Frey, Alexander M Holtz, A Micheil Innes, Boris Keren, William L Macken, Carlo Marcelis, Catherine E Otten, Sarah A Paolucci, Florence Petit, Rolph Pfundt, Robert D S Pitceathly, Anita Rauch, Gianina Ravenscroft, Rani Sanchev, Katharina Steindl, Femke Tammer, Amanda Tyndall, Didier Devys, Stéphane D Vincent, Orly Elpeleg, László Tora
Deubiquitination is critical for the proper functioning of numerous biological pathways such as DNA repair, cell cycle progression, transcription, signal transduction, and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders (ND) and congenital abnormalities. ATXN7L3 is a component of the DUB module of the SAGA complex, and two other related DUB modules, and serves as an obligate adaptor protein of 3 ubiquitin-specific proteases (USP22, USP27X or USP51)...
May 16, 2024: Brain