Mechanism of tumor resistance to cisplatin mediated by the copper transporter ATP7B
. Biochem CellBiol, 89(2); 138-47 (2011).
View Report: https://www.transparencymarketresearch.com/wilsons-disease-market.html Individuals suffering from Wilson's disease are unable to discharge copper from the liver at a normal rate because of mutation in ATP7B
La enfermedad de Wilson es una entidad de caracter autosomico recesivo, causada por la mutacion del gen ATP7B
que codifica una proteina del transportador intracelular de cobre (Cpx-tipo ATPasa) (50).
Copper taken up by hepatocyte CTR1 is delivered to ATP7B
and CP CP facilitates iron loading onto TF by oxidation (Fe2+ Fe3+).
Li et al., "Rescue of ATP7B
function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin," Human Molecular Genetics, vol.
Despite the excess concentration of copper harms the human body by generating of toxic-free radicals, the human body could make copper homeostasis by exporting excess copper to the intestine, liver, and mammary gland in the formed of feces, bile product, and milk, respectively, that could be occurred by the action of copper-transporting adenosine triphosphatases (Cu-ATPases) which include ATP7A and ATP7B
Spectrum and classification of ATP7B
variants in a large cohort of Chinese patients with Wilson's disease guides genetic diagnosis.
mediates vesicular sequestration of copper: Insight into biliary copper excretion.
(Mutation R1319X in gene ATP7B
and neurological form in Wilson's disease.
The basic pathophysiology relates to improper handling of copper by the liver owing to the dysfunctional ATP7B
Alterations in the gene, which is responsible for the synthesis of protein P-type ATPase (ATP7B
), lead to pathological copper accumulation, especially in the liver and the brain .