Efficacy of Helper-dependent Adenovirus Vector-mediated Gene Therapy in Murine Glycogen Storage Disease Type Ia
作者： Dwight D Koeberl , B Sun , A Bird , YT Chen , K Oka
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摘要: Genetic deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, also known as von Gierke disease; MIM 232200), an autosomal recessive disorder metabolism associated with life-threatening hypoglycemia and growth retardation. We tested whether helper-dependent adenovirus (HDAd)-mediated hepatic delivery G6Pase would lead to prolonged survival sustained correction the metabolic abnormalities in knockout (KO) mice, a model for severe form GSD-Ia. An HDAd vector encoding was administered intravenously (2 or 5 × 10 12 particles/kg) 2-week-old (w.o.) G6Pase-KO mice. Following administration median 7 months, contrast untreated affected mice that did not survive past 3 weeks age. levels increased more than tenfold between days 28 after injection ( P
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