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Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1428
Abstract: Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro‐psychiatric disturbances. This…
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Keywords:
atp7b;
deep intronic;
disease;
novel deep ... See more keywords
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1
Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0345-1
Abstract: Wilson disease (WD) is an autosomal recessive disease of copper excess due to pathogenic variants in the ATP7B gene coding for a copper-transporting ATPase. We present a 5-year-old girl with the homozygous frame shift variant…
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Keywords:
atp7b;
copper;
exon;
copper export ... See more keywords
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1
Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-18951-1
Abstract: Copper-transporter ATP7B maintains copper homeostasis in the human cells and delivers copper to the biosynthetic pathways for incorporation into the newly synthesized copper-containing proteins. ATP7B is a target of several hundred mutations that lead to…
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Keywords:
atp7b;
copper;
disease;
metal binding ... See more keywords
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1
Published in 2020 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2006648117
Abstract: Pathogenic mutations in the copper transporter ATP7B have been hypothesized to affect its protein interaction landscape contributing to loss of function and, thereby, to hepatic copper toxicosis in Wilson disease. Although targeting mutant interactomes was…
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Keywords:
wilson disease;
hsp70;
atp7b;
interaction ... See more keywords
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2
Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-1687
Abstract: Docetaxel has been the standard first-line chemotherapy for lethal metastatic prostate cancer (mPCa) since 2004, but the resistance to docetaxel treatment is common. The molecular mechanisms of docetaxel resistance remain largely unknown and could be…
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Keywords:
copper;
prostate cancer;
atp7b;
resistance ... See more keywords
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1
Published in 2023 at "Iranian Journal of Public Health"
DOI: 10.18502/ijph.v52i5.12720
Abstract: Background: Hepatolenticular degeneration (HLD) is an inherited disorder caused by the mutation in the adenosine triphosphatase copper transporting β gene (ATP7B). W aimed to explore the genetic changes in HLD using bioinformatics analysis. Methods: The…
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Keywords:
copper;
atp7b;
knockout copper;
atp7b knockout ... See more keywords