Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides

Novel mutations in ATP7B gene of Wilson\'s disease in Iranian patients

Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...

Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

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 analy...

Diverse functional properties of Wilson disease ATP7B variants.

BACKGROUND & AIMS Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS We analyzed 28 varian...

prevalence of atp7b gene mutations in iranian patients with wilson disease

The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.

BACKGROUND Wilson disease is a rare autosomal recessive disorder of copper metabolism caused by mutation in the ATP7B gene. The combination of markers (such as SNPs) on a single chromosome can be used to understand the structure of haplotype in the human genome, in which provide notable information on the origin of the mutation in human genetic disorders. The purpose of this study was to determ...