ATP7A Gene Addition to the Choroid Plexus Results in Long-term Rescue of the Lethal Copper Transport Defect in a Menkes Disease Mouse Model

Menkes disease is a lethal infantile neurodegenerative disorder of copper metabolism caused by mutations in a P-type ATPase, ATP7A. Currently available treatment (daily subcutaneous copper injections) is not entirely effective in the majority of affected individuals. The mottled-brindled (mo-br) mou...

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Bibliografische gegevens
Hoofdauteurs: Donsante, Anthony, Yi, Ling, Zerfas, Patricia M, Brinster, Lauren R, Sullivan, Patricia, Goldstein, David S, Prohaska, Joseph, Centeno, Jose A, Rushing, Elisabeth, Kaler, Stephen G
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2011
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Original Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3242653/
https://ncbi.nlm.nih.gov/pubmed/21878905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2011.143
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