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Wilson disease.
Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML. Członkowska A, et al. Nat Rev Dis Primers. 2018 Sep 6;4(1):21. doi: 10.1038/s41572-018-0018-3. Nat Rev Dis Primers. 2018. PMID: 30190489 Free PMC article. Review.
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transportin …
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pa …
Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update.
Teschke R, Eickhoff A. Teschke R, et al. Int J Mol Sci. 2024 Apr 26;25(9):4753. doi: 10.3390/ijms25094753. Int J Mol Sci. 2024. PMID: 38731973 Free PMC article. Review.
Wilson disease is a genetic disorder of the liver characterized by excess accumulation of copper, which is found ubiquitously on earth and normally enters the human body in small amounts via the food chain. ...Patients with Wilson disease are we …
Wilson disease is a genetic disorder of the liver characterized by excess accumulation of copper, which is found ubiqui …
Wilson Disease: An Overview and Approach to Management.
Mulligan C, Bronstein JM. Mulligan C, et al. Neurol Clin. 2020 May;38(2):417-432. doi: 10.1016/j.ncl.2020.01.005. Epub 2020 Feb 28. Neurol Clin. 2020. PMID: 32279718 Review.
This disease is caused by copper overload caused by reduced copper excretion secondary to genetic mutations in the ATP7B gene. ...This article reviews the clinical presentation, epidemiology, genetics, pathophysiology, diagnosis, and management …
This disease is caused by copper overload caused by reduced copper excretion secondary to genetic mutations in t …
Liver pathology in Wilson's disease: From copper overload to cirrhosis.
Gerosa C, Fanni D, Congiu T, Piras M, Cau F, Moi M, Faa G. Gerosa C, et al. J Inorg Biochem. 2019 Apr;193:106-111. doi: 10.1016/j.jinorgbio.2019.01.008. Epub 2019 Jan 15. J Inorg Biochem. 2019. PMID: 30703747 Review.
Wilson's disease (WD) is a genetic metabolic disease strictly associated with liver cirrhosis. In this review, the genetic bases of the disease are discussed, with emphasis on the role of ATP7B (the Wilson disease protein) dysfunct …
Wilson's disease (WD) is a genetic metabolic disease strictly associated with liver cirrhosis. In this review, the gene …
The molecular mechanisms of copper metabolism and its roles in human diseases.
Chen J, Jiang Y, Shi H, Peng Y, Fan X, Li C. Chen J, et al. Pflugers Arch. 2020 Oct;472(10):1415-1429. doi: 10.1007/s00424-020-02412-2. Epub 2020 Jun 7. Pflugers Arch. 2020. PMID: 32506322 Review.
However, an excess of copper ions in cells is detrimental as these copper ions can generate free radicals and increase oxidative stress. ...A hereditary or acquired copper unbalance, including deficiency, overload, or misdistribution, may cause or aggr …
However, an excess of copper ions in cells is detrimental as these copper ions can generate free radicals and increase oxidati …
Wilson disease.
Kitzberger R, Madl C, Ferenci P. Kitzberger R, et al. Metab Brain Dis. 2005 Dec;20(4):295-302. doi: 10.1007/s11011-005-7910-8. Metab Brain Dis. 2005. PMID: 16382340 Review.
Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, resulting in pathological accumulation of copper in many organs and tissues. ...Survival of transgenic mice with a mutant SOD1 which fails to incorporate Cu((2+)) in …
Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, resulting in pathological accumu …
Neurological Wilson's Disease Signs-Hepatic Encephalopathy or Copper Toxicosis?
Jopowicz A, Tarnacka B. Jopowicz A, et al. Diagnostics (Basel). 2023 Feb 27;13(5):893. doi: 10.3390/diagnostics13050893. Diagnostics (Basel). 2023. PMID: 36900037 Free PMC article. Review.
Wilson's disease (WD) is a rare autosomal recessive (AR) disorder resulting from mutations in the ATP7B gene, which is responsible for the encryption of transmembrane copper transporting ATPase. ...Various treatments are available for Wilson's …
Wilson's disease (WD) is a rare autosomal recessive (AR) disorder resulting from mutations in the ATP7B gene, which is …
Repurposing melatonin's therapeutic potential in Wilson disease: Addressing copper overload and redox imbalance.
Pandey R, Roy AN, Sarkar S, Rohman R, Chakraborty K, Bargakshatriya R, Pandey S, Pruthwiraj, Bhattacharya D, Kumar S, Maji S, Pezacki AT, Pramanik SK, Chang CJ, Bhattacharjee A, Sengupta N, Das A, Gupta A. Pandey R, et al. Redox Biol. 2026 Feb;89:103971. doi: 10.1016/j.redox.2025.103971. Epub 2025 Dec 12. Redox Biol. 2026. PMID: 41406573 Free PMC article.
Loss-of-function mutations in copper-ATPase ATP7B underlie Wilson disease (WD), a disorder characterized by hepatic copper accumulation and severe hepato-neuropathology. ...In-cellulo studies also revealed that copper-induced vesicularize …
Loss-of-function mutations in copper-ATPase ATP7B underlie Wilson disease (WD), a disorder characterized by hepa …
Pathogenesis of Wilson disease.
Scheiber IF, Brůha R, Dušek P. Scheiber IF, et al. Handb Clin Neurol. 2017;142:43-55. doi: 10.1016/B978-0-444-63625-6.00005-7. Handb Clin Neurol. 2017. PMID: 28433109 Review.
Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. ...Finally, we will describe the consequences of copper overload in Wilson disease in other tissues... …
Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other …
Prion protein promotes copper toxicity in Wilson disease.
Petruzzelli R, Catalano F, Crispino R, Polishchuk EV, Elia M, Masone A, Lavigna G, Grasso A, Battipaglia M, Sepe LV, Akdogan B, Reinold Q, Del Prete E, Carrella D, Torella A, Nigro V, Caruso E, Innocenti N, Biasini E, Puchkova LV, Indrieri A, Ilyechova EY, Piccolo P, Zischka H, Chiesa R, Polishchuk RS. Petruzzelli R, et al. Nat Commun. 2025 Feb 8;16(1):1468. doi: 10.1038/s41467-025-56740-x. Nat Commun. 2025. PMID: 39922819 Free PMC article.
Dysfunction in key components of this network leads to the disruption of Cu homeostasis, resulting in fatal disorders such as Wilson disease, which is caused by mutations in the hepatic Cu efflux transporter ATP7B. ...Suppression of PrP significantly reduces …
Dysfunction in key components of this network leads to the disruption of Cu homeostasis, resulting in fatal disorders such as Wilson …
120 results