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• W2010074434 abstract "A recently described canine model (Lapland dog) of glycogen storage disease type II (GSD II, Pompe disease, acid α-glucosidase deficiency) was identified with several biochemical genetic methods. Complementation studies in which fibroblasts from a GSD II dog were fused with fibroblasts derived from control dogs and from human patients with different clinical forms of the disease did not lead to restoration of acid α-glucosidase activity in the heterokaryon cell populations. These results indicate that acid α-glucosidase deficiency is the primary defect in canine GSD II and that there is a close genetic parallelism with human GSD II. Immunotitration analysis of the residual acid α-glucosidase activity in the canine GSD II fibroblasts and liver demonstrated that this residual activity was not due to acid α-glucosidase enzyme, in which respect canine GSD II was similar to the infantile form of the human disease. Double immunodiffusion studies showed the presence of catalytically inactive acid α-glucosidase enzyme protein in canine GSD II. This is consistent with a structural gene mutation. It is concluded that canine GSD II in the Lapland dog is a homologous model of the infantile form of human GSD II, a conclusion in concordance with clinical and pathological studies." @default.
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• W2010074434 date "1984-11-01" @default.
• W2010074434 modified "2023-09-23" @default.
• W2010074434 title "Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid α-glucosidase deficiency)" @default.
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• W2010074434 doi "https://doi.org/10.1002/ajmg.1320190323" @default.
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