Abstract | BACKGROUND AND AIMS: METHODS: We characterized mitochondrial DNA copy number and mutations as well as bioenergetic deficits in blood from patients with WD and in livers of tx-j mice, a mouse model of hepatic copper accumulation. In vitro experiments with hepatocytes treated with CuSO4 were conducted to validate in vivo studies. RESULTS: CONCLUSIONS: This study underlines the relevance of targeting the copper- mitochondrial DNA pool in the treatment of WD separate from the established copper-induced oxidative stress-mediated damage.
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Authors | Valentina Medici, Gaurav V Sarode, Eleonora Napoli, Gyu-Young Song, Noreene M Shibata, Andre O Guimarães, Charles E Mordaunt, Dorothy A Kieffer, Tagreed A Mazi, Anna Czlonkowska, Tomasz Litwin, Janine M LaSalle, Cecilia Giulivi |
Journal | Liver international : official journal of the International Association for the Study of the Liver
(Liver Int)
Vol. 40
Issue 11
Pg. 2776-2787
(11 2020)
ISSN: 1478-3231 [Electronic] United States |
PMID | 32996699
(Publication Type: Journal Article, Research Support, N.I.H., Extramural)
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Copyright | © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
Chemical References |
- DNA, Mitochondrial
- Copper
- Atp7b protein, mouse
- Copper-Transporting ATPases
- Penicillamine
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Topics |
- Animals
- Copper
(metabolism)
- Copper-Transporting ATPases
(genetics)
- DNA, Mitochondrial
(genetics)
- Hepatolenticular Degeneration
(drug therapy, genetics)
- Humans
- Liver
(metabolism)
- Mice
- Penicillamine
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