Federico Catalano, Thomas J O'Brien, Aleksandra A Mekhova, Lucia Vittoria Sepe, Mariantonietta Elia, Rossella De Cegli, Ivan Gallotta, Pamela Santonicola, Giuseppina Zampi, Ekaterina Y Ilyechova, Aleksei A Romanov, Polina D Samuseva, Josephine Salzano, Raffaella Petruzzelli, Elena V Polishchuk, Alessia Indrieri, Byung-Eun Kim, André E X Brown, Ludmila V Puchkova, Elia Di Schiavi, Roman S Polishchuk
Wilson disease (WD) is caused by mutations in the ATP7B gene that encodes a copper (Cu) transporting ATPase whose trafficking from the Golgi to endo-lysosomal compartments drives sequestration of excess Cu and its further excretion from hepatocytes into the bile. Loss of ATP7B function leads to toxic Cu overload in the liver and subsequently in the brain, causing fatal hepatic and neurological abnormalities. The limitations of existing WD therapies call for the development of new therapeutic approaches, which require an amenable animal model system for screening and validation of drugs and molecular targets...
October 27, 2023: Traffic