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

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

(2012) Pontus Gourdon et al.   BIOLOGICAL CHEMISTRY

Distinct and Overlapping Roles for AP-1 and GGAs Revealed by the “Knocksideways” System

(2012) Jennifer Hirst et al.   CURRENT BIOLOGY

Diverse Functional Properties of Wilson Disease ATP7B Variants

(2012) Dominik Huster et al.   GASTROENTEROLOGY

Defining Wilson Disease Phenotypes: From the Patient to the Bench and Back Again

(2012) Peter Ferenci et al.   GASTROENTEROLOGY

Molecular Events Initiating Exit of a Copper-transporting ATPase ATP7B from theTrans-Golgi Network

(2012) Nesrin M. Hasan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking

(2011) L. Braiterman et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

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

Middle-aged heterozygous carriers of Wilson’s disease do not present with significant phenotypic deviations related to copper metabolism

(2011) G. Gromadzka et al.   JOURNAL OF GENETICS

Canine models of copper toxicosis for understanding mammalian copper metabolism

(2011) Hille Fieten et al.   MAMMALIAN GENOME

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

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease

(2010) Uta Merle et al.   BMC 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

CHARMM: The biomolecular simulation program

(2009) B. R. Brooks et al.   JOURNAL OF COMPUTATIONAL CHEMISTRY

Monozygotic female twins discordant for phenotype of Wilson's disease

(2009) Anna Członkowska et al.   MOVEMENT DISORDERS

Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B

(2008) Lelita Braiterman et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Cellular multitasking: The dual role of human Cu-ATPases in cofactor delivery and intracellular copper balance

(2008) Svetlana Lutsenko et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Metal Binding Domains 3 and 4 of the Wilson Disease Protein: Solution Structure and Interaction with the Copper(I) Chaperone HAH1†‡

(2008) Lucia Banci et al.   BIOCHEMISTRY

Triethylene tetramine dihydrochloride (trientine) in children with Wilson disease: experience at King’s College Hospital and review of the literature

(2008) Rachel M. Taylor et al.   EUROPEAN JOURNAL OF PEDIATRICS

Diagnosis and treatment of Wilson disease: An update

(2008) Eve A. Roberts et al.   HEPATOLOGY

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system

(2008) Gloria Hsi et al.   HUMAN MUTATION

Neurological presentation of Wilson's disease in a patient after liver transplantation

(2008) Tomasz Litwin et al.   MOVEMENT DISORDERS