REFERENCES

1. Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2025;82:E41-90.

2. European Association for the Study of the Liver. EASL-ERN Clinical Practice Guidelines on Wilson’s disease. J Hepatol. 2025;82:690-728.

3. Roberts EA, Schilsky ML. Current and emerging issues in Wilson’s disease. N Engl J Med. 2023;389:922-38.

4. Ferenci P, Stremmel W, Członkowska A, et al. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease. Hepatology. 2019;69:1464-76.

5. Huster D, Finegold MJ, Morgan CT, et al. Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice. Am J Pathol. 2006;168:423-34.

6. Ralle M, Huster D, Vogt S, et al. Wilson disease at a single cell level: intracellular copper trafficking activates compartment-specific responses in hepatocytes. J Biol Chem. 2010;285:30875-83.

7. Muchenditsi A, Talbot CC, Gottlieb A, et al. Systemic deletion of Atp7b modifies the hepatocytes’ response to copper overload in the mouse models of Wilson disease. Sci Rep. 2021;11:5659.

8. Polishchuk EV, Concilli M, Iacobacci S, et al. Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. Dev Cell. 2014;29:686-700.

9. Petruzzelli R, Catalano F, Crispino R, et al. Prion protein promotes copper toxicity in Wilson disease. Nat Commun. 2025;16:1468.

10. Zischka H, Lichtmannegger J, Schmitt S, et al. Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. J Clin Investig. 2011;121:1508-18.

11. Lichtmannegger J, Leitzinger C, Wimmer R, et al. Methanobactin reverses acute liver failure in a rat model of Wilson disease. J Clin Invest. 2016;126:2721-35.

12. Tsvetkov P, Coy S, Petrova B, et al. Copper induces cell death by targeting lipoylated TCA cycle proteins. Science. 2022;375:1254-61.

13. Sailer J, Nagel J, Akdogan B, et al. Deadly excess copper. Redox Biol. 2024;75:103256.

14. Tang S, Liang C, Hou W, et al. ATP7B R778L mutant hepatocytes resist copper toxicity by activating autophagy and inhibiting necroptosis. Cell Death Discov. 2023;9:344.

15. Dev S, Muchenditsi A, Gottlieb A, et al. Oxysterol misbalance critically contributes to Wilson disease pathogenesis. Sci Adv. 2022;8:eadc9022.

16. Mi X, Song Y, Deng C, et al. Stimulation of liver fibrosis by N2 neutrophils in Wilson’s disease. Cell Mol Gastroenterol Hepatol. 2023;16:657-84.

17. Doguer C, Ha JH, Collins JF. Intersection of iron and copper metabolism in the mammalian intestine and liver. Compr Physiol. 2018;8:1433-61.

18. Pak K, Ordway S, Sadowski B, Canevari M, Torres D. Wilson’s disease and iron overload: pathophysiology and therapeutic implications. Clin Liver Dis. 2021;17:61-6.

19. Fontes A, Pierson H, Bierła JB, et al. Copper impairs the intestinal barrier integrity in Wilson disease. Metabolism. 2024;158:155973.

20. Sarode GV, Mazi TA, Neier K, et al. The role of the intestine in metabolic dysregulation in murine Wilson disease. Hepatology Communications. 2023;7:e0247.

21. Caceres A, Shibata NM, Davalos-Gutierrez CD, et al. Inactivation of Atp7b copper transporter in intestinal epithelial cells is associated with altered lipid processing and cell growth machinery independent from hepatic copper accumulation and severity of liver histology. Am J Pathol. 2026;196:407-27.

22. Cai X, Dai J, Xie Y, Xu S, Liu M. Multi-omics study unravels gut microbiota and metabolites alteration in patients with Wilson’s disease. Sci Rep. 2024;14:21025.

23. Mi X, Liu R, Jiang Z, et al. Gut microbiota-derived propionate governs hepatic N2 neutrophils in Wilson’s disease. Cell Mol Gastroenterol Hepatol. 2026;20:101770.

24. Woimant F, Djebrani-Oussedik N, Poujois A. New tools for Wilson’s disease diagnosis: exchangeable copper fraction. Ann Transl Med. 2019;7:S70.

25. Harrington CF, Carpenter G, Coverdale JPC, et al. Accurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS. Clin Chem Lab Med. 2024;63:320-8.

26. Tang S, Liang C, Yu H, et al. The potential serum sphingolipid biomarkers for distinguishing Wilson disease. Clin Chim Acta. 2024;553:117740.

27. Sarode GV, Kim K, Kieffer DA, et al. Metabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature. Metabolomics. 2019;15:43.

28. Murillo O, Moreno D, Gazquez C, et al. Liver expression of a MiniATP7B gene results in long-term restoration of copper homeostasis in a Wilson disease model in mice. Hepatology. 2019;70:108-26.

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