{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["22(16)"],"submitter":["Chandhok G"],"pubmed_abstract":["<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 "],"journal":["World journal of gastroenterology"],"pagination":["4109-19"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4837429"],"repository":["biostudies-literature"],"pubmed_title":["Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines."],"pmcid":["PMC4837429"],"pubmed_authors":["Zibert A","Horvath J","Aggarwal A","Schmidt HH","Bhatt M","Chandhok G"],"additional_accession":[]},"is_claimable":false,"name":"Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.","description":"<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 ","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Apr","modification":"2025-04-22T10:08:58.853Z","creation":"2019-03-27T02:11:59Z"},"accession":"S-EPMC4837429","cross_references":{"pubmed":["27122662"],"doi":["10.3748/wjg.v22.i16.4109"]}}