Article

Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia

2024-04-17

Abstract excerpt

<title>Abstract</title> <p>Glycogen storage disease type-Ia (GSD-Ia) patients, deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC), manifest impaired glucose homeostasis with hallmark fasting hypoglycemia. We generated a humanized knock-in mouse model, huR83C, that is homozygous for the pathogenic <italic>G6PC</italic>-R83C variant and manifests a GSD-Ia phenotype. We evaluated the efficacy of BEAM-301, lipid...

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Literature Corpus work: 00b8eff5-0964-5567-8816-8a48682bbb2c
DOI: 10.21203/rs.3.rs-4208786/v1

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