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Article

CRISPR/Cas9 ‐based double‐strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type‐Ia

19 Jul 2023

Abstract excerpt

Glycogen storage disease type-Ia (GSD-Ia), characterized by impaired blood glucose homeostasis, is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC). Using the G6pc-R83C mouse model of GSD-Ia, we explored a CRISPR/Cas9-based double-strand DNA oligonucleotide (dsODN) insertional strategy that uses the nonhomologous end-joining repair mechanism to correct the pathogenic p.R83C variant in G6pc...

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Genetics and Neurodevelopmental Disorders
Glycogen Storage Diseases and Myoclonus
Lysosomal Storage Disorders Research

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37467014
DOI: 10.1002/jimd.12660

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