Article
Wilson's Disease-Crossroads of Genetics, Inflammation and Immunity/Autoimmunity: Clinical and Molecular Issues.
International journal of molecular sciences - 20 Aug 2024
Gromadzka Grażyna, Czerwińska Julia, Krzemińska Elżbieta, Przybyłkowski Adam, Litwin Tomasz
Abstract excerpt
Wilson's disease (WD) is a rare, autosomal recessive disorder of copper metabolism caused by pathogenic mutations in the ATP7B gene. Cellular copper overload is associated with impaired iron metabolism. Oxidative stress, cuproptosis, and ferroptosis are involved in cell death in WD. The clinical picture of WD is variable. Hepatic/neuropsychiatric/other symptoms may manifest in childhood/adulthood and even old...
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