Review
Pharmacology & Pharmacy
Clavia Ruth Wooton-Kee
Summary: Copper is an essential trace element that is necessary for various cellular processes, but excess copper accumulation can be toxic. The liver plays a crucial role in maintaining copper homeostasis. Wilson's disease, an autosomal recessive disorder, is caused by mutations in the ATP7B gene and requires lifelong treatment or liver transplantation. Current treatment options focus on reducing copper levels and cellular toxicity. Studies have shown altered hepatic metabolism and impaired hepatic nuclear receptor activity in Wilson's disease patients.
PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Obstetrics & Gynecology
Giuseppe Gabriele Iorio, Alessandro Conforti, Roberta Vallone, Luigi Carbone, Margherita Matarazzo, Anna De Rosa, Pasquale De Rosa, Silvia Picarelli, Flora Fedele, Giuseppe Perruolo, Pietro Formisano, Raffaele Iorio, Carlo Alviggi, Fabiola Di Dato
Summary: Research showed that WD patients with hepatic onset, diagnosed early and well-treated, do not show impaired fertility potential. However, males may have reduced sperm motility and females lower LH values. Only patients with poor disease control exhibit some evidence of impaired fertility.
REPRODUCTIVE BIOMEDICINE ONLINE
(2021)
Review
Medicine, General & Internal
Erica Nicola Lynch, Claudia Campani, Tommaso Innocenti, Gabriele Dragoni, Paolo Forte, Andrea Galli
Summary: Wilson's disease is a rare inherited disorder that affects copper metabolism in the body, leading to various symptoms in the liver and nervous system. Although hepatic Wilson's disease can be diagnosed in childhood or young adulthood, adherent, non-cirrhotic patients have a normal life expectancy. However, chronic management of Wilson's disease patients is challenging due to limitations in available biochemical tests for treatment evaluation.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Medicine, Research & Experimental
Wai-In Ho, Yang Hu, Chi-Wa Cheng, Rui Wei, Jiayin Yang, Na Li, Ka-Wing Au, Yiu-Lam Tse, Qiuyun Wang, Kwong-Man Ng, Miguel A. Esteban, Hung-Fat Tse
Summary: In this study, liposome-encapsulated curcumin (LEC) was used to treat a mouse model of Wilson's disease (WD). The treatment was found to attenuate liver injuries, restore lipid metabolism, decrease inflammation and fibrosis, and reduce hepatosplenomegaly in the mice. The mechanism of action was through the suppression of HMGB1-mediated hepatic and systemic inflammation.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Review
Biochemistry & Molecular Biology
Abolfazl Avan, Anna Czlonkowska, Susan Gaskin, Alberto Granzotto, Stefano L. Sensi, Tjaard U. Hoogenraad
Summary: Wilson's disease is a disorder of copper metabolism that causes damage to the brain and liver. Although diagnosis is difficult, zinc has been recommended as an effective treatment for this disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Behavioral Sciences
Lei Chen, Xin Wang, Richard L. Doty, Shanshan Cao, Junxiu Yang, Feng Sun, Xiaoyan Yan
Summary: Olfactory dysfunction in patients with Wilson's disease was found to be worse compared to healthy controls, with a selective pattern of impairment. UPSIT scores were negatively correlated with neurological scores in WD patients. Logistic regression analysis identified two models for discriminating WD patients from healthy controls based on a combination of specific odors.
BRAIN AND BEHAVIOR
(2021)
Review
Medicine, General & Internal
Beata Kasztelan-Szczerbinska, Halina Cichoz-Lach
Summary: Wilson's disease is a rare autosomal recessive disorder characterized by hepatocellular copper deposition. The diagnostic approach involves a complex set of clinical findings and relies on patient history, physical examination, and laboratory testing. Timely identification of signs and symptoms using novel biomarkers and modern diagnostic tools can reduce treatment delays and improve patient prognosis. Proper management of WD includes early diagnosis, lifelong monitoring, strict adherence to treatment, and screening for adverse effects. Liver transplantation is performed in about 5% of WD patients with acute liver failure or signs of decompensation. Increasing awareness among health professionals and emphasizing early recognition of signs and symptoms are important strategies for patient safety and efficacy of WD therapy.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Pharmacology & Pharmacy
Peihua Liu, Ling Jiang, Weimin Kong, Qiushi Xie, Ping Li, Xiaonan Liu, Jiayi Zhang, Ming Liu, Zhongjian Wang, Liang Zhu, Hanyu Yang, Ying Zhou, Jianjun Zou, Xiaodong Liu, Li Liu
Summary: This study found that the activation of pregnane X receptor (PXR) impairs hepatic glucose metabolism by inhibiting the hepatocyte nuclear factor 4-alpha (HNF4 alpha)-glucose transporter 2 (GLUT2) pathway, leading to hyperglycemia. These findings highlight the molecular mechanisms by which PXR activators induce hyperglycemia/diabetes.
ACTA PHARMACEUTICA SINICA B
(2022)
Review
Cell Biology
Som Dev, Robert L. Kruse, James P. Hamilton, Svetlana Lutsenko
Summary: This review summarizes recent advances in the characterization of Wilson disease pathophysiology and discusses emerging targets for improving diagnosis and treatment.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Medicine, General & Internal
Anna Jopowicz, Beata Tarnacka
Summary: Wilson's disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene. It leads to copper overload in liver cells, as well as other organs like the brain, resulting in various symptoms including hepatic, neurological, and psychiatric. Treatment options include chelation therapy, zinc salts, and liver transplantation, with new medications being investigated. Early screening for Wilson's disease is important for prompt diagnosis and better treatment outcomes.
Review
Cell Biology
Wen-Jie Li, Huan-Ling Chen, Bin Wang, Lei Yao, Xiao-Ping Wang
Summary: This paper presents the food therapy of Wilson's disease based on trace elements, emphasizing the combination of medical and dietary therapy for hepatolenticular degeneration.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Gastroenterology & Hepatology
Claudia Einer, Ditte Emilie Munk, Eok Park, Banu Akdogan, Judith Nagel, Josef Lichtmannegger, Carola Eberhagen, Tamara Rieder, Mikkel H. Vendelbo, Bernhard Michalke, Ralf Wimmer, Andreas Blutke, Annette Feuchtinger, Philip Dershwitz, Ana M. DiSpirito, Tawhidul Islam, Rui E. Castro, Byong-Keol Min, TaeWon Kim, Seoyoun Choi, Dasol Kim, Chunwon Jung, Hongjae Lee, Dongsik Park, Weonbin Im, So-Young Eun, You-Hee Cho, Jeremy D. Semrau, Cecilia M. P. Rodrigues, Simon Hohenester, Thomas Damgaard Sandahl, Alan A. DiSpirito, Hans Zischka
Summary: This study tested the efficiency and safety of bacteria-derived copper binding agents (MBs) in depleting excess copper from the livers of WD rats, and found that a copper-binding agent called ARBM101 can effectively deplete liver copper to normal levels within 8 days. They developed a new treatment approach consisting of repetitive cycles of ARBM101 applications followed by rest periods to ensure long-term survival in WD rats.
Article
Multidisciplinary Sciences
Melissa Y. Lucero, Yuqi Tang, Chloe J. Zhang, Shengzhang Su, Joseph A. Forzano, Valeria Garcia, Xin Huang, David Moreno, Jefferson Chan
Summary: The development of the high-performance photoacoustic probe PACu-1 shows promising potential for non-invasive assessment of hepatic Cu levels, showcasing successful detection of elevated Cu levels in disease models and successful differentiation of disease animals in blind studies.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Medicine, General & Internal
Tomasz Litwin, Agnieszka Antos, Jan Bembenek, Adam Przybylkowski, Iwona Kurkowska-Jastrzebska, Marta Skowronska, Anna Czlonkowska
Summary: This systematic review examines the occurrence of copper deficiency (CD) in Wilson's disease (WD) patients during treatment. CD diagnosis is based on symptoms and blood tests, and regular monitoring of copper metabolism is necessary during treatment. Temporary cessation of anti-copper treatment can usually reverse serum copper reductions seen in CD.
Review
Medicine, General & Internal
Kevin Chevalier, Martine Mauget-Faysse, Vivien Vasseur, Georges Azar, Michael Alexandre Obadia, Aurelia Poujois
Summary: Wilson's disease is a genetic disorder caused by a mutation in the ATP7B gene, resulting in abnormal copper excretion and accumulation in various tissues. Ocular findings play a significant role in the diagnosis and follow-up of the disease. The most common ocular manifestations include Kayser-Fleischer ring and sunflower cataracts. Slit-lamp examination is commonly used for diagnosis and follow-up, but new techniques such as anterior segment optical coherence tomography and Scheimpflug imaging are also available.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Clavia Ruth Wooton-Kee, David E. Cohen, Mary Vore
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
(2008)
Article
Gastroenterology & Hepatology
Donna J. Coy, Clavia R. Wooton-Kee, Baoxiang Yan, Nadezhda Sabeva, Kai Su, Gregory Graf, Mary Vore
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
(2010)
Article
Biotechnology & Applied Microbiology
Antony Athippozhy, Liping Huang, Clavia Ruth Wooton-Kee, Tianyong Zhao, Paiboon Jungsuwadee, Arnold J. Stromberg, Mary Vore
Article
Multidisciplinary Sciences
Clavia Ruth Wooton-Kee, Matthew Robertson, Ying Zhou, Bingning Dong, Zhen Sun, Kang Ho Kim, Hailan Liu, Yong Xu, Nagireddy Putluri, Pradip Saha, Cristian Coarfa, David D. Moore, Alli M. Nuotio-Antar
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Editorial Material
Cell Biology
Kang Ho Kim, Clavia Ruth Wooton-Kee
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2023)
Article
Gastroenterology & Hepatology
Kang Ho Kim, Jong Min Choi, Feng Li, Bingning Dong, Clavia Ruth Wooton-Kee, Armando Arizpe, Sayeepriyadarshini Anakk, Sung Yun Jung, Sean M. Hartig, David D. Moore
HEPATOLOGY COMMUNICATIONS
(2019)
Article
Endocrinology & Metabolism
Kang Ho Kim, Jong Min Choi, Feng Li, Armando Arizpe, Clavia Ruth Wooton-Kee, Sayeepriyadarshini Anakk, Sung Yun Jung, Milton J. Finegold, David D. Moore
Article
Gastroenterology & Hepatology
Abigael Muchenditsi, Haojun Yang, James P. Hamilton, Lahari Koganti, Franck Housseau, Lisa Aronov, Hongni Fan, Hannah Pierson, Ashima Bhattacharjee, Robert Murphy, Cynthia Sears, James Potter, Clavia R. Wooton-Kee, Svetlana Lutsenko
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
(2017)
Article
Pharmacology & Pharmacy
M Wood, M Ananthanarayanan, B Jones, R Wooton-Kee, T Hoffman, FJ Suchy, M Vore
MOLECULAR PHARMACOLOGY
(2005)
Article
Hematology
CR Wooton-Kee, BB Boyanovsky, MS Nasser, WJS de Villiers, NR Webb
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2004)
Article
Genetics & Heredity
AL Tabb, T Utsugi, CR Wooten-Kee, T Sasaki, SA Edling, W Gump, Y Kikuchi, SR Ellis
Article
Endocrinology & Metabolism
CR Wooton-Kee, BJ Clark