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In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease

Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterized are the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATPase genes ATP7A and ATP7B...

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Bibliografiset tiedot
Julkaisussa:J Biol Chem
Päätekijät: Mercer, Stephen W., Wang, Jianbin, Burke, Richard
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Biochemistry and Molecular Biology 2017
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5354492/
https://ncbi.nlm.nih.gov/pubmed/28119449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.756163
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