Despite a long history, Wilson’s disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. Clinical manifestations of neurologic Wilson’s disease include variable combinations of dysarthria, dystonia, tremor, and choreoathetosi...

Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to 500 mutat...

BACKGROUND In patients with Wilson's disease (WD), an autosomal recessive disorder, toxic accumulation of copper results in fatal liver disease and irreversible neuronal degeneration. ATP7B, the gene mutated in WD, contains 21 exons and encodes a copper transporting ATPase. A novel disease causing mutation (4193delC) in exon 21 of the ATP7B gene has previously been detected by heteroduplex anal...

The ability to image the concentration of transition metals in living cells in real time is important for further understanding of transition metal homeostasis and its involvement in diseases. The goal of this study was to develop a genetically encoded FRET-based sensor for copper(I) based on the copper-induced dimerization of two copper binding domains involved in human copper homeostasis, Ato...

The P-type ATPases affected in Menkes and Wilson diseases, ATP7A and ATP7B, respectively, are key copper transporters that regulate copper homeostasis. The N termini of these proteins are critical in regulating their function and activity, and contain six copper-binding motifs MxCxxC. In this study, we describe the identification of glutaredoxin (GRX1) as an interacting partner of both ATP7A an...

Wilson disease is an autosomal recessive disorder characterized by toxic accumulation of copper in a number of organs such as liver and brain, which results in significant disability or death if left untreated. Wilson disease is caused by mutations in ATP7B, a copper transporter. We analyzed 108 American Wilson disease patients, who are predominantly White, for mutations in ATP7B. Consistent wi...