Functional studies on the Wilson copper P-Type ATPase and toxic milk mouse mutant
Data(s) |
09/03/2001
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Resumo |
The Wilson protein (WND; ATP7B) is an essential component of copper homeostasis. Mutations in the <i>ATP7B</i> 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 <i>Atp7B</i> 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.<br /> |
Identificador | |
Idioma(s) |
eng |
Publicador |
Academic Press |
Relação |
http://dro.deakin.edu.au/eserv/DU:30008441/n20011199.pdf http://dx.doi.org/10.1006/bbrc.2001.4445 |
Direitos |
2001, Academic Press |
Palavras-Chave | #Wilson disease #toxic milk mouse #copper #P-type ATPase #heavy metals |
Tipo |
Journal Article |