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• W2022042619 abstract "Glycogen storage disease type II (GSDII) is a recessively inherited disorder caused by defects in lysosomal acid alpha-glucosidase. In an attempt to reproduce the range of clinical manifestations of the human illness we have created null alleles at the acid alpha-glucosidase locus (GAA) with several gene targeting strategies. In each knockout strain, enzyme activity was completely abolished and glycogen accumulated at indistinguishable rates. The phenotypes, however, differed strikingly. Acid alpha-glucosidase deficiency on a 129xC57BL/6 background resulted in a severe phenotype with progressive cardiomyopathy and profound muscle wasting similar to that in patients with glycogen storage disease type II. On a 129/C57BL/6xFVB background, homozygous mutants developed a milder phenotype with a later age of onset. Females were more affected than males irrespective of genetic background. As in humans with glycogen storage disease type II, therefore, other genetic loci affect the phenotypic expression of a single gene mutation." @default.
• W2022042619 created "2016-06-24" @default.
• W2022042619 creator A5024664136 @default.
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• W2022042619 date "2000-06-01" @default.
• W2022042619 modified "2023-09-30" @default.
• W2022042619 title "Modulation of disease severity in mice with targeted disruption of the acid α-glucosidase gene" @default.
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• W2022042619 doi "https://doi.org/10.1016/s0960-8966(99)00117-0" @default.
• W2022042619 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10838256" @default.
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