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Article

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

9 Nov 2024

Abstract excerpt

Glycogen storage disease type-Ia patients, deficient in the G6PC1 gene encoding glucose-6-phosphatase-α, lack blood glucose control, resulting in life-threatening hypoglycemia. Here we show our humanized mouse model, huR83C, carrying the pathogenic G6PC1-R83C variant displays the phenotype of glycogen storage disease type-Ia and dies prematurely. We evaluate the efficacy of BEAM-301, a formulation of lipid...

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PMID: 39523369
DOI: 10.1038/s41467-024-54108-1

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