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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
Gene Expression in wild type and Atp7b-/- mice
RNA sequencing in Atp7b -/- mice under high-fat diet conditions
RNA Sequencing in LXR agonist fed Atp7b-/- mice (Wilson disease)
Wilson’s disease (WD) is a rare genetic disease caused by mutations in the ATP7B gene. These mutations impact the expression and/or function of the copper-transporting ATP7B protein, leading to massive toxic accumulation of copper in the liver and brain. Due to its low incidence and highly variable ...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2020-04-14 | PXD011007 | Pride
Inactivating mutations in the copper transporter Atp7b result in Wilson’s disease. The Atp7b-/- mouse develops hallmarks of Wilson’s disease. The activity of several nuclear receptors is decreased in Atp7b-/- mice, and nuclear receptors are critical for maintaining metabolic homeostasis. Therefore, ...
ORGANISM(S): Mus musculus 
2020-04-14 | GSE125637 | GEO
The aim of this study was to elucidate the impact of ATP7B deficiency on hepatic gene expression profiles in mice fed a high-fat diet. Systemic ATP7B-knockout (Atp7b-/-) mice on a C57BL/6J genetic background were generated via CRISPR/Cas9 technology and subjected to a high-fat, high-fructose, and hi...
ORGANISM(S): Mus musculus 
2025-05-05 | GSE294387 | GEO
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