Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

  title={Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.},
  author={John R. Forbes and Diane Wilson Cox},
  journal={Human molecular genetics},
  volume={9 13},
We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, indicating that these ATP7B proteins retained copper transport activity. We analyzed the intracellular localization of these active WND ATP7B variant proteins using transient… CONTINUE READING
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