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• W2072814829 endingPage "1616" @default.
• W2072814829 startingPage "1609" @default.
• W2072814829 abstract "Acid maltase deficiency (AMD) causes a lysosomal glycogenosis inherited as an autosomal recessive trait. The infantile type of AMD (Pompe disease) leads to early death due to severe dysfunction of cardiac and respiratory muscles and no effective therapy is available. Replication-defective adenovirus vectors offer a promising tool for in vivo gene delivery and gene therapy. We constructed a recombinant adenovirus containing the human acid maltase (AM) cDNA downstream of the CAG promoter, composed of modified chicken β-actin promoter and CMV IE enhancer (AxCANAM). Japanese quail with AMD was used for this study as an animal model for human AMD. When cultured fibroblasts from AMD quail were infected with AxCANAM, AM activity in the cells increased in proportion to the multiplicity of infection (MOI). When AxCANAM (4.5 × 108 PFU) was injected into unilateral superficial pectoral muscle of AMD quail, PAS staining showed that glycogenosomes disappeared and stainability of acid phosphatase was reduced in the injected area as compared with the contralateral muscle of the same birds. Biochemically, AM activity increased and glycogen content decreased in the injected muscle. Western blot analysis showed that AMD quail muscle injected with AxCANAM expressed human AM protein processed to active forms. These results suggest that the human AM cDNA transferred by an adenovirus vector was sufficiently expressed, leading to a marked reduction of the glycogen accumulation in the skeletal muscle of AMD quail. We constructed a recombinant adenovirus containing the human acid maltase (AM) cDNA downstream of the CAG promoter (AxCANAM). Japanese quail with AM deficiency (AMD) were used for this study as an animal model for human AMD. When cultured fibroblasts from AMD quail were infected with AxCANAM, AM activity in the cells increased in proportion to the multiplicity of infection (MOI). Subsequent to injection with AxCANAM into superficial pectoral muscle of AMD quail, human AM was expressed and glycogen accumulation was markedly reduced." @default.
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• W2072814829 date "1998-07-20" @default.
• W2072814829 modified "2023-09-23" @default.
• W2072814829 title "Adenovirus-Mediated Transfer of Human Acid Maltase Gene Reduces Glycogen Accumulation in Skeletal Muscle of Japanese Quail with Acid Maltase Deficiency" @default.
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• W2072814829 doi "https://doi.org/10.1089/hum.1998.9.11-1609" @default.
• W2072814829 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9694159" @default.
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