Wilson disease is an inherited disorder of copper metabolism that leads to copper accumulation and toxicity in liver and brain. It is caused by mutations in the ATPase copper transporting beta gene (ATP7B), which encodes a protein that transports copper out of heaptocytes into the bile. We studied ATP7B-deficient cells and animals to identify strategies to reduce copper toxicity in patients with Wilson disease.
Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis / Polishchuk, Elena V; Merolla, Assunta; Lichtmannegger, Josef; Romano, Alessia; Indrieri, Alessia; Ilyechova, Ekaterina Y; Concilli, Mafalda; De Cegli, Rossella; Crispino, Roberta; Mariniello, Marta; Petruzzelli, Raffaella; Ranucci, Giusy; Iorio, Raffaele; Pietrocola, Federico; Einer, Claudia; Borchard, Sabine; Zibert, Andree; Schmidt, Hartmut H; Di Schiavi, Elia; Puchkova, Ludmila V; Franco, Brunella; Kroemer, Guido; Zischka, Hans; Polishchuk, Roman S. - In: GASTROENTEROLOGY. - ISSN 0016-5085. - 156:4(2019), pp. 1173-1189. [10.1053/j.gastro.2018.11.032]
Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis
Indrieri, Alessia;De Cegli, Rossella;Petruzzelli, Raffaella;Ranucci, Giusy;Iorio, Raffaele;Franco, Brunella;
2019
Abstract
Wilson disease is an inherited disorder of copper metabolism that leads to copper accumulation and toxicity in liver and brain. It is caused by mutations in the ATPase copper transporting beta gene (ATP7B), which encodes a protein that transports copper out of heaptocytes into the bile. We studied ATP7B-deficient cells and animals to identify strategies to reduce copper toxicity in patients with Wilson disease.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
