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The International Journal of Biochemistry & Cell Biology, 1998
Wilson's disease is a genetic disorder of copper metabolism characterized by the excessive accumulation of this metal in the liver. The gene for Wilson's disease, designated ATP7B, encodes a copper transporting P-type ATPase expressed predominantly in the liver.
K, Terada +3 more
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Wilson's disease is a genetic disorder of copper metabolism characterized by the excessive accumulation of this metal in the liver. The gene for Wilson's disease, designated ATP7B, encodes a copper transporting P-type ATPase expressed predominantly in the liver.
K, Terada +3 more
openaire +2 more sources
Human Mutation, 2022
Mutation in ATP7B gene causes Wilson disease (WD) that is characterized by severe hepatic and neurological symptoms. ATP7B localizes at the trans‐Golgi Network (TGN) transporting copper to copper‐dependent enzymes and traffics in apically targeted ...
Santanu Das +6 more
semanticscholar +1 more source
Mutation in ATP7B gene causes Wilson disease (WD) that is characterized by severe hepatic and neurological symptoms. ATP7B localizes at the trans‐Golgi Network (TGN) transporting copper to copper‐dependent enzymes and traffics in apically targeted ...
Santanu Das +6 more
semanticscholar +1 more source
Epigallocatechin Gallate Promotes Cuproptosis via the MTF1/ATP7B Axis in Hepatocellular Carcinoma
CellsBackground: Cuproptosis is a form of copper-dependent non-apoptotic cell death. Cancer cells that prefer to use aerobic glycolysis for energy generation are commonly insensitive to cuproptosis, which hinders its application for cancer treatment ...
Yuhan Fu +5 more
semanticscholar +1 more source
Molecular Cancer Therapeutics
Docetaxel has been the standard first-line chemotherapy for lethal metastatic prostate cancer (mPCa) since 2004, but resistance to docetaxel treatment is common.
Liankun Song +6 more
semanticscholar +1 more source
Docetaxel has been the standard first-line chemotherapy for lethal metastatic prostate cancer (mPCa) since 2004, but resistance to docetaxel treatment is common.
Liankun Song +6 more
semanticscholar +1 more source
Journal of the American Veterinary Medical Association, 2022
OBJECTIVE To determine the frequency of previously reported coding variants in the ATP7A, ATP7B, and RETN genes in a US population of Labrador Retrievers and to explore potential associations of these genotypes with pathologic hepatic copper accumulation.
D. Langlois +4 more
semanticscholar +1 more source
OBJECTIVE To determine the frequency of previously reported coding variants in the ATP7A, ATP7B, and RETN genes in a US population of Labrador Retrievers and to explore potential associations of these genotypes with pathologic hepatic copper accumulation.
D. Langlois +4 more
semanticscholar +1 more source
Gastroenterology, 2019
BACKGROUND & AIMS Wilson disease (WD) is an inherited disorder of copper metabolism that leads to copper accumulation and toxicity in the liver and brain. It is caused by mutations in the adenosine triphosphatase copper transporting β gene (ATP7B), which
E. Polishchuk +23 more
semanticscholar +1 more source
BACKGROUND & AIMS Wilson disease (WD) is an inherited disorder of copper metabolism that leads to copper accumulation and toxicity in the liver and brain. It is caused by mutations in the adenosine triphosphatase copper transporting β gene (ATP7B), which
E. Polishchuk +23 more
semanticscholar +1 more source
Neurological manifestations and ATP7B mutations in Wilson's disease
Parkinsonism & Related Disorders, 2008Wilson's disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper excretion secondary to ATP7B gene mutations. Neurological presentations are variable in respect to both pattern and age of onset; commonly a movement disorder presents in the second or third decade.
Alexandre Aluizio Costa, Machado +6 more
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Overexpressed ATP7B protects mesenchymal stem cells from toxic copper
Biochemical and Biophysical Research Communications, 2010Wilson's disease (WD) is characterized by accumulation of high levels of copper in liver due to malfunction of copper transporter ATP7B which is central for copper homeostasis. Here we report for the first time that mesenchymal stem cells (MSC) derived from bone marrow express detectable levels of ATP7B.
Vanessa, Sauer +4 more
openaire +2 more sources
ATP7B Gene Mutations in Croatian Patients with Wilson Disease
Genetic Testing and Molecular Biomarkers, 2016Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, characterized by its accumulation in tissues which results in hepatic, neurological, and/or psychiatric symptoms. The aim of this study was to investigate the genetics of WD in Croatian patients.Correlation of the clinical presentation subtype and the age at onset of the ...
Ljubić Hana +16 more
openaire +4 more sources
Transport of Cisplatin by the Copper Efflux Transporter ATP7B
Molecular Pharmacology, 2008ATP7B is a P-type ATPase that mediates the efflux of copper. Recent studies have demonstrated that ATP7B regulates the cellular efflux of cisplatin (DDP) and controls sensitivity to the cytotoxic effects of this drug. To determine whether DDP is a substrate for ATP7B, DDP transport was assayed in vesicles isolated from Sf9 cells infected with a ...
Roohangiz, Safaei +4 more
openaire +2 more sources

