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  • Title: Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer.
    Author: Sorge J, Kuhl W, West C, Beutler E.
    Journal: Proc Natl Acad Sci U S A; 1987 Feb; 84(4):906-9. PubMed ID: 3547401.
    Abstract:
    Glucocerebrosidase cDNA and the neomycin-resistance gene (neo) were cloned into a retrovirus vector. Mouse fibroblasts infected with this vector expressed human glucocerebrosidase, which was readily distinguished from the mouse enzyme using mouse monoclonal anti-glucocerebrosidase antibodies. Cultured fibroblasts and transformed lymphoblasts from patients with type I Gaucher disease were infected with the retrovirus rescued from the mouse fibroblasts by a helper virus. Transformed cells were selected with the antibiotic G418. The enzyme activity of cells infected with virus containing glucocerebrosidase cDNA was restored to normal, while uninfected cells or cells infected with virus containing only the neo gene did not produce glucocerebrosidase.
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