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  1. Article

    Open Access

    CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

    Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. Th...

    Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha… in Scientific Reports (2022)

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  2. Article

    Open Access

    CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

    Infantile-onset Pompe Disease (IOPD), caused by mutations in lysosomal acid alpha-glucosidase (Gaa), manifests rapidly progressive fatal cardiac and skeletal myopathy incompletely attenuated by synthetic GAA intr...

    Jeffrey Y. Huang, Shih-Hsin Kan, Emilie K. Sandfeld, Nancy D. Dalton… in Scientific Reports (2020)

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