scholarly journals A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways

Metallomics ◽  
2018 ◽  
Vol 10 (3) ◽  
pp. 378-387 ◽  
Author(s):  
Arnab Gupta ◽  
Santanu Das ◽  
Kunal Ray
Keyword(s):  
Wilson Disease ◽  
Phenotypic Variability ◽  
Copper Metabolism ◽  
Mendelian Disorder ◽  
Wilson Disease Protein ◽  
Disease Protein ◽  
Apical Trafficking

Wilson disease (WD), a Mendelian disorder of copper metabolism caused by mutations in the ATP7B gene, manifests a large spectrum of phenotypic variability.

scholarly journals Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments

1997 ◽  
Vol 326 (3) ◽  
pp. 897-902 ◽  
Author(s):  
Xiao-Li YANG ◽  
Naoyuki MIURA ◽  
Yoshihiko KAWARADA ◽  
Kunihiko TERADA ◽  
Konstantin PETRUKHIN ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Wilson Disease ◽  
Intracellular Transport ◽  
Copper Metabolism ◽  
Copper Transporter ◽  
Wilson Disease Protein ◽  
Disease Protein ◽  
Human Disorders ◽  
P Type ◽  
Cellular Compartments

Copper is an essential trace element in prokaryotes and eukaryotes and is strictly regulated by biological mechanisms. Menkes and Wilson diseases are human disorders that arise from disruption of the normal process of copper export from the cytosol to the extracellular environment. Recently a gene for Wilson disease (WD) (also named the ATP7B gene) was cloned. This gene encodes a copper transporter of the P-type ATPase. We prepared monoclonal and polyclonal anti-(WD protein) antibodies and characterized the full-length WD protein as well as a shorter form that is produced by alternative splicing in the human brain. We found that the WD protein is localized mainly in the Golgi apparatus, whereas the shorter form is present in the cytosol. These results suggest that the alternative WD proteins act as key regulators of copper metabolism, perhaps by performing distinct roles in the intracellular transport and export of copper.

Localization of the Wilson disease protein in murine intestine

2008 ◽  
Vol 46 (09) ◽  
Author(s):  
KH Weiss ◽  
D Gotthardt ◽  
J Wurz ◽  
U Merle ◽  
W Stremmel ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Wilson Disease Protein ◽  
Disease Protein

Translocation of the Wilson disease protein ATP7B is independent of Murr1/ COMMD1 and Rab7

2008 ◽  
Vol 46 (01) ◽  
Author(s):  
KH Weiss ◽  
JC Lozoya ◽  
S Tuma ◽  
D Gotthardt ◽  
J Reichert ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Wilson Disease Protein ◽  
Disease Protein

scholarly journals Cu(I) Binding and Transfer by the N Terminus of the Wilson Disease Protein

2007 ◽  
Vol 282 (12) ◽  
pp. 8622-8631 ◽  
Author(s):  
Liliya A. Yatsunyk ◽  
Amy C. Rosenzweig
Keyword(s):  
Wilson Disease ◽  
Wilson Disease Protein ◽  
N Terminus ◽  
Disease Protein

scholarly journals Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae

FEBS Letters ◽  
1998 ◽  
Vol 428 (3) ◽  
pp. 281-285 ◽  
Author(s):  
Masatake Iida ◽  
Kunihiko Terada ◽  
Yoshihiro Sambongi ◽  
Tokumitsu Wakabayashi ◽  
Naoyuki Miura ◽  
...  
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Wilson Disease ◽  
Functional Domains ◽  
Wilson Disease Protein ◽  
Disease Protein

scholarly journals Copper relay path through the N-terminus of Wilson disease protein, ATP7B

Metallomics ◽  
2019 ◽  
Vol 11 (9) ◽  
pp. 1472-1480 ◽  
Author(s):  
Kumaravel Ponnandai Shanmugavel ◽  
Pernilla Wittung-Stafshede
Keyword(s):  
Metal Binding ◽  
Wilson Disease ◽  
Copper Transport ◽  
Binding Domains ◽  
Wilson Disease Protein ◽  
N Terminus ◽  
Disease Protein ◽  
Yeast Assay

Using a yeast assay, we identified the roles of ATP7B's six metal-binding domains in internal copper transport and soluble chaperone capacity.

scholarly journals Copper-Induced Translocation of the Wilson Disease Protein ATP7B Independent of Murr1/COMMD1 and Rab7

2008 ◽  
Vol 173 (6) ◽  
pp. 1783-1794 ◽  
Author(s):  
Karl Heinz Weiss ◽  
Javier Carbajo Lozoya ◽  
Sabine Tuma ◽  
Daniel Gotthardt ◽  
Jürgen Reichert ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Wilson Disease Protein ◽  
Disease Protein
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