Results 141 to 150 of about 6,030 (184)

The utility of whole exome sequencing in diagnosing Wilson disease: A case report. [PDF]

JPGN Rep
Palan MJ, Simpson D, Miranda C, Hakar M, Lin HC.   +4 more
europepmc   +1 more source

Copper-regulated cell death after spinal cord injury: evidence boundaries for non-coding RNA, epigenetics and cuproptosis. [PDF]

Front Mol Neurosci
Tao J, Wang G, Jiang G, Feng W.
europepmc   +1 more source

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ATP7B (WND) protein

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, M L, Schilsky, N, Miura, T, Sugiyama   +3 more
openaire   +2 more sources

Transport of Cisplatin by the Copper Efflux Transporter ATP7B

Molecular Pharmacology, 2008
ATP7B 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, Shinji, Otani, Barrett J, Larson, Michael L, Rasmussen, Stephen B, Howell   +4 more
openaire   +2 more sources

The frequency of mutations in the ATP7B gene in Russia

Meta Gene, 2017
Abstract Wilson's disease (WD, OMIM # 277900 ), or hepatolenticular degeneration, is an autosomal recessive disease caused by a large number of different mutations in the ATP7B gene. More than 700 different mutations in the coding sequence of ATP7B have been described so far.
Andrey A. Kudryavtsev, Elena V. Gornostaeva, Mikhail I. Voevoda, Vladimir N. Maximov, Sergey P. Kovalenko   +4 more
openaire   +1 more source

Neurological manifestations and ATP7B mutations in Wilson's disease

Parkinsonism & Related Disorders, 2008
Wilson'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, Marta Mitiko, Deguti, Janine, Genschel, Eduardo Luiz Rachid, Cançado, Bettina, Bochow, Hartmut, Schmidt, Egberto Reis, Barbosa   +6 more
openaire   +2 more sources

Pseudo‐Wilsonian Crisis in a ATP7B Heterozygote

Liver Transplantation, 2021
Mohammad Qasim Khan, Jerry Yung‐Lun Chin, Hassan Azhari, Charles B. Rosen, Michael D. Leise   +4 more
openaire   +2 more sources

Intracellular Copper Transport and ATP7B, the Wilson’s Disease Protein

2002
Copper is an essential trace metal for all living organisms because this metal serves as a cofactor for activating numerous enzymes critical for homeostasis. However, when copper exceeds the cellular needs, it is toxic through the production of highly reactive hydroxyl radicals that have deleterious effects on cellular components, including ...
Kunihiko Terada, Toshihiro Sugiyama
openaire   +1 more source

Atp7b −/− mice as a model for studies of Wilson's disease

Biochemical Society Transactions, 2008
Wilson's disease is a severe human disorder of copper homoeostasis. The disease is associated with various mutations in the ATP7B gene that encodes a copper-transporting ATPase, and a massive accumulation of copper in the liver and several other tissues.
openaire   +2 more sources