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Article

Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.

Neuromuscular disorders : NMD - 1 Jun 2000

Raben N, Nagaraju K, Lee E, Plotz P

Abstract excerpt

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...

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Source

Identifiers

PMID: 10838256
DOI: 10.1016/s0960-8966(99)00117-0

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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