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CRISPR-Mediated Generation and Characterization of a <i>Gaa</i> Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease

2022-05-30

Abstract excerpt

Pompe disease (PD) is an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), leading to reduced degradation and subsequent accumulation of intra-lysosomal glycogen in tissues, especially skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant is the most frequent GAA pathogenic mutation in people of Taiwanese and Southern Chinese ethnicity, causing infantile-on...

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Literature Corpus work: 2f225273-2318-559f-8282-b2f567c31660
DOI: 10.1101/2022.05.30.494061

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CRISPR-Mediated Generation and Characterization of a <i>Gaa</i> Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe DiseaseDOI 10.1101/2022.05.30.494061Read

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