Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of pediatric gastroenterology and nutrition"
DOI: 10.1002/jpn3.12446
Abstract: OBJECTIVES Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological,… read more here.
Keywords: genetic profiling; variant atp7b; atp7b; wilson disease ... See more keywords
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Sign Up to like & getrecommendations! 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… read more here.
Keywords: atp7b; deep intronic; disease; novel deep ... See more keywords
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
Sign Up to like & getrecommendations! 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… read more here.
Keywords: atp7b; copper; exon; copper export ... See more keywords
The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation
Sign Up to like & getrecommendations! 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… read more here.
Keywords: atp7b; copper; disease; metal binding ... See more keywords
Pharmacoproteomics pinpoints HSP70 interaction for correction of the most frequent Wilson disease-causing mutant of ATP7B.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: wilson disease; hsp70; atp7b; interaction ... See more keywords
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities
Sign Up to like & getrecommendations! Published in 2025 at "Human Mutation"
DOI: 10.1155/humu/7485658
Abstract: Wilson disease is a disorder of copper (Cu) homeostasis caused by the malfunction of Cu transporter ATP7B and associated Cu accumulation in tissues. The existence of over 700 disease-associated variants in the ATP7B gene and… read more here.
Keywords: disease; atp7b variants; transport activities; atp7b ... See more keywords
Abstract 1687: ATPase copper transporting beta (ATP7B) contributes to acquired docetaxel resistance in human prostate cancer
Sign Up to like & getrecommendations! 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… read more here.
Keywords: copper; prostate cancer; atp7b; resistance ... See more keywords
Identification of Lncrna-Mrna Networks in Hepg2 Cells upon ATP7B Knockout and Copper Accumulation
Sign Up to like & getrecommendations! 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… read more here.
Keywords: copper; atp7b; knockout copper; atp7b knockout ... See more keywords