Modifying factors and phenotypic diversity in Wilson's disease

Phenotype-genotype correlations in patients with Wilson's disease

(2014) Peter Ferenci   Annals of the New York Academy of Sciences

Efficacy and Safety of Oral Chelators in Treatment of Patients With Wilson Disease

(2013) Karl Heinz Weiss et al.   Clinical Gastroenterology and Hepatology

Maternal choline modifies fetal liver copper, gene expression, DNA methylation, and neonatal growth in the tx-j mouse model of Wilson disease

(2013) Valentina Medici et al.   Epigenetics

Psychiatric aspects of Wilson disease: a review

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

Brain cholesterol homeostasis in Wilson disease

(2013) Stefano Cacciatore et al.   MEDICAL HYPOTHESES

Genetic defects in Indian Wilson disease patients and genotype–phenotype correlation

(2013) Shashwata Mukherjee et al.   PARKINSONISM & RELATED DISORDERS

Structural models of the human copper P-type ATPases ATP7A and ATP7B

(2012) Pontus Gourdon et al.   BIOLOGICAL CHEMISTRY

Diverse Functional Properties of Wilson Disease ATP7B Variants

(2012) Dominik Huster et al.   GASTROENTEROLOGY

A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism

(2012) Maya Schushan et al.   Metallomics

A systems approach implicates nuclear receptor targeting in the Atp7b−/− mouse model of Wilson's disease

(2012) Phillip A. Wilmarth et al.   Metallomics

Neurological Symptoms, Genotype-Phenotype Correlations and Ethnic-specific Differences in Bulgarian Patients With Wilson Disease

(2012) Violeta Mihaylova et al.   NEUROLOGIST

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

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

Urinary Copper Elevation in a Mouse Model of Wilson's Disease Is a Regulated Process to Specifically Decrease the Hepatic Copper Load

(2012) Lawrence W. Gray et al.   PLoS One

Wilson's Disease—Treatment of Psychiatric Manifestations in Pregnancy

(2012) Anne M. Rich et al.   PSYCHOSOMATICS

Early gestational gene transfer with targeted ATP7B expression in the liver improves phenotype in a murine model of Wilson's disease

(2011) J L Roybal et al.   GENE THERAPY

Difference in Stability of the N-domain Underlies Distinct Intracellular Properties of the E1064A and H1069Q Mutants of Copper-transporting ATPase ATP7B

(2011) Oleg Y. Dmitriev et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Unification of the Copper(I) Binding Affinities of the Metallo-chaperones Atx1, Atox1, and Related Proteins

(2011) Zhiguang Xiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Alterations of lipid metabolism in Wilson disease

(2011) Jessica Seessle et al.   Lipids in Health and Disease

Imaging Copper Metabolism Imbalance in Atp7b −/− Knockout Mouse Model of Wilson’s Disease with PET-CT and Orally Administered 64CuCl2

(2011) Fangyu Peng et al.   MOLECULAR IMAGING AND BIOLOGY

Crystal structure of a copper-transporting PIB-type ATPase

(2011) Pontus Gourdon et al.   NATURE

Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein

(2011) A. Gupta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Role for Low Hepatic Copper Concentrations in Nonalcoholic Fatty Liver Disease

(2010) Elmar Aigner et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Fulminant Wilson's Disease Requiring Liver Transplantation in One Monozygotic Twin Despite Identical Genetic Mutation

(2010) K. M. Kegley et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Hemolytic Anemia as a Presenting Feature of Wilson’s Disease: A Case Report

(2010) Sunita Sharma et al.   INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION

Wilson Disease at a Single Cell Level

(2010) Martina Ralle et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genotype-Phenotype Correlation in Wilson Disease

(2010) Simon Horslen et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Elevated Copper Remodels Hepatic RNA Processing Machinery in the Mouse Model of Wilson's Disease

(2010) Jason L. Burkhead et al.   JOURNAL OF MOLECULAR BIOLOGY

Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism

(2010) Norikazu Shimizu et al.   Translational Research

Cardiovascular and sudomotor autonomic dysfunction in Wilson's disease—Limited correlation with clinical severity

(2009) Dilip Soni et al.   AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL

Identifying Health Impacts of Exposure to Copper Using Transcriptomics and Metabolomics in a Fish Model

(2009) Eduarda M. Santos et al.   ENVIRONMENTAL SCIENCE & TECHNOLOGY

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin

(2009) Peter V. E. van den Berghe et al.   HEPATOLOGY

Hepatocyte GP73 expression in Wilson disease

(2009) Lorinda M. Wright et al.   JOURNAL OF HEPATOLOGY

Monozygotic female twins discordant for phenotype of Wilson's disease

(2009) Anna Członkowska et al.   MOVEMENT DISORDERS

Atp7b−/−mice as a model for studies of Wilson's disease

(2008) Svetlana Lutsenko   BIOCHEMICAL SOCIETY TRANSACTIONS

Stability and ATP Binding of the Nucleotide-binding Domain of the Wilson Disease Protein: Effect of the Common H1069Q Mutation

(2008) Agustina Rodriguez-Granillo et al.   JOURNAL OF MOLECULAR BIOLOGY

P wave dispersion is prolonged in patients with Wilson’s disease

(2008) Nurcan Arat 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