Article
Psychiatric Symptoms in Wilson's Disease-Consequence of ATP7B Gene Mutations or Just Coincidence?-Possible Causal Cascades and Molecular Pathways.
International journal of molecular sciences - 18 Nov 2024
Gromadzka Grażyna, Antos Agnieszka, Sorysz Zofia, Litwin Tomasz
Abstract excerpt
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The genetic defect in WD affects the ATP7B gene, which encodes the ATP7B transmembrane protein, which is essential for maintaining normal copper homeostasis in the body. It is primarily expressed in the liver and acts by incorporating copper into ceruloplasmin (Cp), the major copper transport protein in the blood. In conditions of...
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