Article
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Dec 2011
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
Abstract excerpt
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) mouse recapitulates the Menkes phenotype, including abnormal copper transport to the brain owing to mutation in the...
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