Diane W. Cox

TL;DR: The Wilson disease gene ATP7B encodes a P‐type ATPase, an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea.

TL;DR: The mapping of a human microphthalmia locus on chromosome 14q24.3, the cloning of CHX10 at this locus and the identification of recessive ChX10 mutations in two families with non-syndromic microphthalia, cataracts and severe abnormalities of the iris are reported.

TL;DR: The data suggest that the beneficial effect of the txJ mutation on CNS Aβ burden may proceed by a previously undescribed mechanism, likely involving increased clearance of peripheral pools of Aβ peptide.

TL;DR: The toxic milk mouse mutant (tx) is presented as a valid model for studies of the role of WND in copper transport and for investigation of different treatment strategies for WD.

TL;DR: It is proposed that cooperative copper binding to the copper-binding domain of ATP7B is not critical for copper transport function, but that Cooperative copper binding involving the N-terminal two or three Copper-binding motifs may be involved in initiating copper-dependent intracellular trafficking.