ATP7B Variants as Modulators of Copper Dyshomeostasis in Alzheimer’s Disease
نویسندگان
چکیده
منابع مشابه
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, indicating that these ATP7B proteins retained copper transport activity. We analy...
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BACKGROUND & AIMS Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS We analyzed 28 varian...
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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. The most frequent disease manifestations include a wide spectrum of liver pathologies as well as neurological and psychiatric abnormalities. A...
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ژورنال
عنوان ژورنال: NeuroMolecular Medicine
سال: 2013
ISSN: 1535-1084,1559-1174
DOI: 10.1007/s12017-013-8237-y