In VivoModeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease

New and emerging targeted therapies for cystic fibrosis

(2016) Bradley S Quon et al.   BMJ-British Medical Journal

New and emerging targeted therapies for cystic fibrosis

(2016) Bradley S Quon et al.   BMJ-British Medical Journal

Elemental mapping of the entire intact Drosophila gastrointestinal tract

(2015) Michael W. M. Jones et al.   JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

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

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

In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure

(2013) Rosanna Squitti et al.   BIOMETALS

Linkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease

(2012) Rosanna Squitti et al.   REJUVENATION RESEARCH

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

(2011) Ling Yi et al.   HUMAN MOLECULAR GENETICS

ATP7A-related copper transport diseases—emerging concepts and future trends

(2011) Stephen G. Kaler   Nature Reviews Neurology

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

(2010) Marina L. Kennerson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Conservation of copper-transporting P(IB)-type ATPase function

(2010) Adam Southon et al.   BIOMETALS

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

Mammalian copper-transporting P-type ATPases, ATP7A and ATP7B: Emerging roles

(2009) Sharon La Fontaine et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

New developments in the regulation of intestinal copper absorption

(2009) Peter VE van den Berghe et al.   NUTRITION REVIEWS

The genetics of essential metal homeostasis during development

(2008) Taiho Kambe et al.   GENESIS

Expression and localisation of the essential copper transporter DmATP7 in Drosophila neuronal and intestinal tissues

(2008) Richard Burke et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

New Roles for Copper Metabolism in Cell Proliferation, Signaling, and Disease

(2008) Michelle L. Turski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R

(2008) Jingrong Tang et al.   MOLECULAR GENETICS AND METABOLISM