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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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Veröffentlicht in:J Biol Chem
Hauptverfasser: Mercer, Stephen W., Wang, Jianbin, Burke, Richard
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2017
Schlagworte:
Online Zugang: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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