Wilson’s disease: update on pathogenesis, biomarkers and treatments

Direct Measurement of ATP7B Peptides is Highly Effective in the Diagnosis of Wilson Disease

(2021) Christopher J. Collins et al.   GASTROENTEROLOGY

Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients With Neurological Manifestations

(2021) Jie Lin et al.   MOVEMENT DISORDERS

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

(2020) Daniel F. Wallace et al.   HUMAN GENETICS

Semiquantitative Scale for Assessing Brain MRI Abnormalities in Wilson Disease: A Validation Study

(2020) Petr Dusek et al.   MOVEMENT DISORDERS

Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease

(2020) Aurélia Poujois et al.   NEUROLOGY

Combined sodium Dimercaptopropanesulfonate and zinc versus D-penicillamine as first-line therapy for neurological Wilson’s disease

(2020) Jing Zhang et al.   BMC Neurology

Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties

(2020) Shubhrajit Roy et al.   Scientific Reports

mtDNA depletion‐like syndrome in Wilson disease

(2020) Valentina Medici et al.   LIVER INTERNATIONAL

Plasma Neurofilament Light as a Biomarker of Neurological Involvement in Wilson's Disease

(2020) Samuel Shribman et al.   MOVEMENT DISORDERS

Pharmacoproteomics pinpoints HSP70 interaction for correction of the most frequent Wilson disease-causing mutant of ATP7B

(2020) Mafalda Concilli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease

(2019) Karina Broniek-Kowalik et al.   ACTA OPHTHALMOLOGICA

Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta‐analysis of controlled studies

(2019) Christian Appenzeller‐Herzog et al.   LIVER INTERNATIONAL

New tools for Wilson’s disease diagnosis: exchangeable copper fraction

(2019) France Woimant et al.   Annals of Translational Medicine

Multiparametric Quantitative Brain MRI in Neurological and Hepatic Forms of Wilson's Disease

(2019) Monika Dezortova et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson’s Disease Rating Scale

(2018) Anna Członkowska et al.   BMC Neurology

An αB-Crystallin Peptide Rescues Compartmentalization and Trafficking Response to Cu Overload of ATP7B-H1069Q, the Most Frequent Cause of Wilson Disease in the Caucasian Population

(2018) Simona Allocca et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Biopolymer strategy for the treatment of Wilson's disease

(2018) Miroslav Vetrik et al.   JOURNAL OF CONTROLLED RELEASE

Animal models of Wilson disease

(2018) Emily Reed et al.   JOURNAL OF NEUROCHEMISTRY

Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease

(2018) Anna Członkowska et al.   LIVER INTERNATIONAL

The exceptional sensitivity of brain mitochondria to copper

(2018) Sabine Borchard et al.   TOXICOLOGY IN VITRO

Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells

(2018) Silvia Parisi et al.   Scientific Reports

Age,sex, but not ATP7B genotype effectively influences the clinical phenotype of Wilson disease

(2018) Peter Ferenci et al.   HEPATOLOGY

Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype

(2018) Anna Kluska et al.   LIVER INTERNATIONAL

Selective vulnerability in neurodegenerative diseases

(2018) Hongjun Fu et al.   NATURE NEUROSCIENCE

Exchangeable copper: a reflection of the neurological severity in Wilson's disease

(2016) A. Poujois et al.   EUROPEAN JOURNAL OF NEUROLOGY

Methanobactin reverses acute liver failure in a rat model of Wilson disease

(2016) Josef Lichtmannegger et al.   JOURNAL OF CLINICAL INVESTIGATION

Long-term metabolic correction of Wilson’s disease in a murine model by gene therapy

(2016) Oihana Murillo et al.   JOURNAL OF HEPATOLOGY

Brain iron accumulation in Wilson disease: a post mortem 7 Tesla MRI - histopathological study

(2016) P. Dusek et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Early neurological worsening in patients with Wilson's disease

(2015) Tomasz Litwin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Delay in Diagnosis of Wilson Disease in Children With Insidious Psychiatric Symptoms: A Case Report and Review of the Literature

(2015) Hun Millard et al.   PSYCHOSOMATICS

Population screening for Wilson's disease

(2014) Si Houn Hahn   Annals of the New York Academy of Sciences

Epidemiology of Wilson's disease in Ireland

(2014) Margaret O'Brien et al.   MOVEMENT DISORDERS

A genetic study of Wilson’s disease in the United Kingdom

(2013) Alison J. Coffey et al.   BRAIN

Copper Block of Extrasynaptic GABAA Receptors in the Mature Cerebellum and Striatum

(2013) T. P. McGee et al.   JOURNAL OF NEUROSCIENCE

Brain metal accumulation in Wilson's disease

(2013) T. Litwin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The effect of gender on brain MRI pathology in Wilson’s disease

(2013) T. Litwin et al.   METABOLIC BRAIN DISEASE

Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis

(2013) Jonathon Telianidis et al.   Frontiers in Aging Neuroscience

Diverse Functional Properties of Wilson Disease ATP7B Variants

(2012) Dominik Huster et al.   GASTROENTEROLOGY

Localization of copper and copper transporters in the human brain

(2012) Katherine M. Davies et al.   Metallomics

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

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