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Functional studies on the Wilson copper P-Type ATPase and toxic milk mouse mutant

Voskoboinik, I., Greenough, M., La Fontaine, Sharon, Mercer, Julian and Camakaris, J. 2001, Functional studies on the Wilson copper P-Type ATPase and toxic milk mouse mutant, Biochemical and biophysical research communications, vol. 281, no. 4, pp. 966-970, doi: 10.1006/bbrc.2001.4445.

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Title Functional studies on the Wilson copper P-Type ATPase and toxic milk mouse mutant
Author(s) Voskoboinik, I.
Greenough, M.
La Fontaine, SharonORCID iD for La Fontaine, Sharon orcid.org/0000-0002-9948-074X
Mercer, Julian
Camakaris, J.
Journal name Biochemical and biophysical research communications
Volume number 281
Issue number 4
Start page 966
End page 970
Publisher Academic Press
Place of publication San Diego, Calif
Publication date 2001-03-09
ISSN 0006-291X
1090-2104
Keyword(s) Wilson disease
toxic milk mouse
copper
P-type ATPase
heavy metals
Summary The Wilson protein (WND; ATP7B) is an essential component of copper homeostasis. Mutations in the ATP7B gene result in Wilson disease, which is characterised by hepatotoxicity and neurological disturbances. In this paper, we provide the first direct biochemical evidence that the WND protein functions as a copper-translocating P-type ATPase in mammalian cells. Importantly, we have shown that the mutation of the conserved Met1386 to Val, in the Atp7B for the mouse model of Wilson disease, toxic milk (tx), caused a loss of Cu-translocating activity. These investigations provide strong evidence that the toxic milk mouse is a valid model for Wilson disease and demonstrate a link between the loss of catalytic function of WND and the Wilson disease phenotype.
Language eng
DOI 10.1006/bbrc.2001.4445
Field of Research 060199 Biochemistry and Cell Biology not elsewhere classified
HERDC Research category C1 Refereed article in a scholarly journal
ERA Research output type C Journal article
Copyright notice ©2001, Academic Press
Persistent URL http://hdl.handle.net/10536/DRO/DU:30008441

Document type: Journal Article
Collection: School of Biological and Chemical Sciences
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