Functional analysis and drug response to zinc and D-penicillamine in stableATP7Bmutant hepatic cell lines

Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China

(2015) Yu Liu et al.   ARCHIVES OF MEDICAL RESEARCH

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

(2015) Fei Wu et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Polarized sorting of the copper transporter ATP7B in neurons mediated by recognition of a dileucine signal by AP-1

(2015) Shweta Jain et al.   MOLECULAR BIOLOGY OF THE CELL

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

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

Copper is required for oncogenic BRAF signalling and tumorigenesis

(2014) Donita C. Brady et al.   NATURE

Zinc Mono-Therapy in Pre-Symptomatic Chinese Children with Wilson Disease: A Single Center, Retrospective Study

(2014) Kuerbanjiang Abuduxikuer et al.   PLoS One

The Effect of Zinc and D-Penicillamine in a Stable Human Hepatoma ATP7B Knockout Cell Line

(2014) Gursimran Chandhok et al.   PLoS One

Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B

(2014) L. T. Braiterman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations

(2013) Annu Aggarwal et al.   ANNALS OF HUMAN GENETICS

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

(2013) Diego Martinelli et al.   BRAIN

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

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

Zinc Monotherapy and a Low-copper Diet are Beneficial in Patients with Wilson Disease After Liver Transplantation

(2013) Wang Ni et al.   CNS Neuroscience & Therapeutics

Long-term effects of a combination of D-penicillamine and zinc salts in the treatment of Wilson’s disease in children

(2013) HONG CHANG et al.   Experimental and Therapeutic Medicine

Diverse Functional Properties of Wilson Disease ATP7B Variants

(2012) Dominik Huster et al.   GASTROENTEROLOGY

Mutational analysis of ATP7B in north Chinese patients with Wilson disease

(2012) Kui Li et al.   JOURNAL OF HUMAN GENETICS

Dietary copper triggers onset of fulminant hepatitis in the Long-Evans cinnamon rat model

(2012) Ramsi Siaj   WORLD JOURNAL OF GASTROENTEROLOGY

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations

(2011) Xin-Hua Li et al.   BMC Medical Genetics

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

(2011) Li-Hua Wang et al.   JOURNAL OF HUMAN GENETICS

Overexpressed ATP7B protects mesenchymal stem cells from toxic copper

(2010) Vanessa Sauer et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Zinc Monotherapy Is Not as Effective as Chelating Agents in Treatment of Wilson Disease

(2010) Karl Heinz Weiss et al.   GASTROENTEROLOGY

Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

(2010) Lei Wan et al.   HEPATOLOGY

Homozygous Mutations in the Conserved ATP Hinge Region of the Wilson Disease Gene

(2010) Kassem Barada et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

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

Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson’s disease

(2009) Uta Merle et al.   JOURNAL OF HEPATOLOGY

Zinc and tetrathiomolybdate for the treatment of Wilson’s disease and the potential efficacy of anticopper therapy in a wide variety of diseases

(2009) George J. Brewer   Metallomics