Wilson’s Disease: A Comprehensive Review of the Molecular Mechanisms

EASL Clinical Practice Guidelines: Wilson’s disease

(2015)   JOURNAL OF HEPATOLOGY

Cell therapy to remove excess copper in Wilson's disease

(2014) Sanjeev Gupta   Annals of the New York Academy of Sciences

Structural and metabolic changes inAtp7b−/−mouse liver and potential for new interventions in Wilson's disease

(2014) Dominik Huster   Annals of the New York Academy of Sciences

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

(2014) Elena V. Polishchuk et al.   DEVELOPMENTAL CELL

Copper Homeostasis: Specialized Functions of the Late Secretory Pathway

(2014) Jonathan D. Gitlin   DEVELOPMENTAL CELL

Characterization of Timed Changes in Hepatic Copper Concentrations, Methionine Metabolism, Gene Expression, and Global DNA Methylation in the Jackson Toxic Milk Mouse Model of Wilson Disease

(2014) Anh Le et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Genotype-Phenotype Correlations in a Mountain Population Community with High Prevalence of Wilson’s Disease: Genetic and Clinical Homogeneity

(2014) Relu Cocoş et al.   PLoS One

Long-term Outcomes of Patients With Wilson Disease in a Large Austrian Cohort

(2013) Sandra Beinhardt et al.   Clinical Gastroenterology and Hepatology

Psychiatric aspects of Wilson disease: a review

(2013) Paula C. Zimbrean et al.   GENERAL HOSPITAL PSYCHIATRY

Evidence for Cardiolipin Binding Sites on the Membrane-Exposed Surface of the Cytochrome bc1

(2013) Clement Arnarez et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

The treatment of Wilson's disease, a rare genetic disorder of copper metabolism

(2013) Rupert Purchase   SCIENCE PROGRESS

Wilson's disease: Changes in methionine metabolism and inflammation affect global DNA methylation in early liver disease

(2012) Valentina Medici et al.   HEPATOLOGY

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

(2012) Maria-Barbara Lepori et al.   MOLECULAR AND CELLULAR PROBES

Apolipoprotein E gene (APOE) genotype in Wilson’s disease: Impact on clinical presentation

(2012) T. Litwin et al.   PARKINSONISM & RELATED DISORDERS

Advance in the pathogenesis and treatment of Wilson disease

(2012) Qin-Yun Dong et al.   Translational Neurodegeneration

Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b−/− mice as a model for Wilson disease

(2011) Sven W. Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Systems biology approach to Wilson’s disease

(2011) Jason L. Burkhead et al.   BIOMETALS

Fragmentation of mitochondrial cardiolipin by copper ions in the Atp7b−/− mouse model of Wilson's disease

(2011) Irina L. Yurkova et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin

(2011) Shiqiang Zhang et al.   HUMAN MOLECULAR GENETICS

Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease

(2011) Hans Zischka et al.   JOURNAL OF CLINICAL INVESTIGATION

Polymorphism of methylenetetrahydrofolate reductase as disease modifier – A déjà-vu in Wilson disease?

(2011) Peter Ferenci   JOURNAL OF HEPATOLOGY

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort

(2011) Beom H. Lee et al.   LIVER INTERNATIONAL

Clinical Molecular Diagnosis of Wilson Disease

(2011) James Bennett et al.   SEMINARS IN LIVER DISEASE

Cholesterol and peroxidized cardiolipin in mitochondrial membrane properties, permeabilization and cell death

(2010) Joan Montero et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Zebrafish sod1 and sp1 expression are modulated by the copper ATPase gene atp7a in response to intracellular copper status

(2010) Hong-Ru Chen et al.   CHEMICO-BIOLOGICAL INTERACTIONS

Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells

(2010) S. Tamir Rashid et al.   JOURNAL OF CLINICAL INVESTIGATION

Wilson disease: Current status and the future☆

(2009) Michael L. Schilsky   BIOCHIMIE

Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC–MS/MS and evaluation of their stability in mice tissues

(2009) Jakub Krijt et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Monozygotic female twins discordant for phenotype of Wilson's disease

(2009) Anna Członkowska et al.   MOVEMENT DISORDERS

Wilson's disease

(2009) Neziha Gouider-Khouja   PARKINSONISM & RELATED DISORDERS

Formation of phosphatidic acid in stressed mitochondria

(2008) Irina L. Yurkova et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Diagnosis and treatment of Wilson disease: An update

(2008) Eve A. Roberts et al.   HEPATOLOGY

Decreased DNA Methyltransferase 3A and 3B mRNA Expression in Peripheral Blood Mononuclear Cells and Increased Plasma SAH Concentration in Adult Patients with Idiopathic Thrombocytopenic Purpura

(2008) Jie Tao et al.   JOURNAL OF CLINICAL IMMUNOLOGY

High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson’s disease

(2008) Laimutis Kucinskas et al.   WORLD JOURNAL OF GASTROENTEROLOGY

Mitochondrial structure and function in the untreated Jackson toxic milk (tx-j) mouse, a model for Wilson disease

(2007) Eve A. Roberts et al.   MOLECULAR GENETICS AND METABOLISM