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The H1069Q substitution in the liver-specific copper transporter ATP7B represents the major cause of Wilson disease. The mutated ATP7B undergoes rapid degradation in the endoplasmic reticulum (ER) and fails to reach copper excretion compartments thus causing severe copper toxicosis in patients. Modu...
ORGANISM(S): Homo sapiens (Human) 
2020-12-11 | PXD016816 | Pride
In order to identify the effects of ATP7B H1069Q overexpression on the liver transcriptome, we performed Affymetrix GeneChip hybridization experiments. Transcriptome analysis of the hepatocytes overexpressing ATP7B H1069Q, compared with hepatocytes overexpressing ATP7B WT. For the analysis on the he...
ORGANISM(S): Homo sapiens 
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