biostudies-literatureUnknown22(16)Chandhok G<h4>Aim</h4>To study the effect of anti-copper treatment for survival of hepatic cells expressing different ATP7B mutations in cell culture.<h4>Methods</h4>The most common Wilson disease (WD) mutations p.H1069Q, p.R778L and p.C271*, found in the ATP7B gene encoding a liver copper transporter, were studied. The mutations represent major genotypes of the United States and Europe, China, and India, respectively. A human hepatoma cell line previously established to carry a knockout of ATP7B was used to stably express WD mutants. mRNA and protein expression of mutant ATP7B, survival of cells, apoptosis, and protein trafficking were determined.<h4>Results</h4>Low temperature increased ATP7B protein expression in several mutants. Intracellular ATP7B localization was significantly impaired in the World journal of gastroenterology4109-19https://www.ebi.ac.uk/biostudies/studies/S-EPMC4837429biostudies-literatureFunctional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.PMC4837429Zibert AHorvath JAggarwal ASchmidt HHBhatt MChandhok GfalseFunctional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.<h4>Aim</h4>To study the effect of anti-copper treatment for survival of hepatic cells expressing different ATP7B mutations in cell culture.<h4>Methods</h4>The most common Wilson disease (WD) mutations p.H1069Q, p.R778L and p.C271*, found in the ATP7B gene encoding a liver copper transporter, were studied. The mutations represent major genotypes of the United States and Europe, China, and India, respectively. A human hepatoma cell line previously established to carry a knockout of ATP7B was used to stably express WD mutants. mRNA and protein expression of mutant ATP7B, survival of cells, apoptosis, and protein trafficking were determined.<h4>Results</h4>Low temperature increased ATP7B protein expression in several mutants. Intracellular ATP7B localization was significantly impaired in the 2016-01-01T00:00:00Z2016 Apr2025-04-22T10:08:58.853Z2019-03-27T02:11:59ZS-EPMC48374292712266210.3748/wjg.v22.i16.4109