Function and regulation of human copper-transporting ATPases

S Lutsenko, NL Barnes, MY Bartee… - Physiological …, 2007 - journals.physiology.org
Copper-transporting ATPases (Cu-ATPases) ATP7A and ATP7B are evolutionarily
conserved polytopic membrane proteins with essential roles in human physiology. The Cu …

P1B-ATPases–an ancient family of transition metal pumps with diverse functions in plants

LE Williams, RF Mills - Trends in plant science, 2005 - cell.com
P 1B-ATPases form a distinct evolutionary sub-family of P-type ATPases, transporting
transition metals such as Cu, Zn, Cd, Pb and Co across membranes in a wide range of …

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

P de Bie, P Muller, C Wijmenga… - Journal of medical …, 2007 - jmg.bmj.com
The trace metal copper is essential for a variety of biological processes, but extremely toxic
when present in excessive amounts. Therefore, concentrations of this metal in the body are …

The structure and function of heavy metal transport P1B-ATPases

JM Argüello, E Eren, M González-Guerrero - Biometals, 2007 - Springer
P 1B-type ATPases transport heavy metals (Cu+, Cu 2+, Zn 2+, Co 2+, Cd 2+, Pb 2+) across
membranes. Present in most organisms, they are key elements for metal homeostasis. P 1B …

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing

P Ferenci - Human genetics, 2006 - Springer
Wilson disease is an autosomal recessive inherited disorder of copper metabolism. The
Wilson disease gene codes for a copper transporting P-type ATPase (ATP7B). Molecular …

Consequences of copper accumulation in the livers of the Atp7b−/−(Wilson disease gene) knockout mice

D Huster, MJ Finegold, CT Morgan, JL Burkhead… - The American journal of …, 2006 - Elsevier
Wilson disease is a severe genetic disorder associated with intracellular copper overload.
The affected gene, ATP7B, has been identified, but the molecular events leading to Wilson …

Hepatic steatosis in Wilson disease–Role of copper and PNPLA3 mutations

AF Stättermayer, S Traussnigg, HP Dienes, E Aigner… - Journal of …, 2015 - Elsevier
Background & Aims The earliest characteristic alterations of the liver pathology in Wilson
disease (WD) include steatosis, which is sometimes indistinguishable from non-alcoholic …

[PDF][PDF] Reduced expression of ATP7B affected by Wilson disease–causing mutations is rescued by pharmacological folding chaperones 4‐phenylbutyrate and …

PVE van den Berghe, JM Stapelbroek, E Krieger… - …, 2009 - Wiley Online Library
Wilson disease (WD) is an autosomal recessive copper overload disorder of the liver and
basal ganglia. WD is caused by mutations in the gene encoding ATP7B, a protein localized …

Sequence variation database for the Wilson disease copper transporter, ATP7B

SM Kenney, DW Cox - Human mutation, 2007 - Wiley Online Library
Wilson disease (WND) is a disorder of copper transport resulting in copper accumulation in
liver, kidney, and brain. This recessive disorder expresses variable clinical symptoms …

Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations

O Dmitriev, R Tsivkovskii… - Proceedings of the …, 2006 - National Acad Sciences
Wilson disease protein (ATP7B) is a copper-transporting P1B-type ATPase that regulates
copper homeostasis and biosynthesis of copper-containing enzymes in human tissues …