Karel Caca

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 photodynamic therapy (PDT) had a promising effect on nonresectable cholangiocarcinoma (NCC) in patients with NCC as mentioned in this paper.

TL;DR: In spite of many known ATP7B mutations, only few occur in this homogeneous population of Wilson disease patients, and limited genetic testing is useful to confirm Wilson disease in this population.

TL;DR: The results provide a detailed demonstration of the ATP7B distribution in control and diseased human livers and indicate that several Wilson's disease mutations lead to incorrect localization of ATP6B to distinct cell compartments.

TL;DR: Variants in ATP7B associated with Wilson disease disrupt the protein's transport activity, result in its mislocalization, and reduce its stability, which will contribute to the understanding of genotype-phenotype correlation and mechanisms of disease pathogenesis.