8 Result(s)

Article

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)

Article

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)

Article

Aortic pathology from protein kinase G activation is prevented by an antioxidant vitamin B₁₂ analog

People heterozygous for an activating mutation in protein kinase G1 (PRKG1, p.Arg177Gln) develop thoracic aortic aneurysms and dissections (TAAD) as young adults. Here we report that mice heterozygous for the mut...

Gerburg K. Schwaerzer, Hema Kalyanaraman, Darren E. Casteel… in Nature Communications (2019)

Article

Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications

G. Todd Milne, Peter Sandner, Kathleen A. Lincoln… in BMC Pharmacology and Toxicology (2017)

Article

MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy

MLP (muscle LIM protein)-deficient mice count among the first mouse models for dilated cardiomyopathy (DCM), yet the exact role of MLP in cardiac signalling processes is still enigmatic. Elevated PKCα signalli...

Stephan Lange, Katja Gehmlich, Alexander S. Lun, Jordan Blondelle… in Nature Communications (2016)