Article
Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease.
Disease models & mechanisms - 1 Mar 2026
Harb Jerry F, Kan Shih-Hsin, Christensen Chloe L, Rha Allisandra K, Andrade-Heckman Perla, Kliman Agatha, Padilla Alejandra, Holbrook Cora, Huang Jeffrey Y, Koeberl Dwight D, Wang Raymond Y
Abstract excerpt
Pompe disease (PD) is a rare autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation. Pathogenic GAA variants result in enzyme dysfunction and glycogen storage in cardiac, skeletal and smooth muscle, as well as in the central nervous system, driving both systemic and neurological manifestations. We have previously characterized a transgenic knock-in...
Topics
- Animals
- Glycogen Storage Disease Type II
- Phenotype
- alpha-Glucosidases
- Glycogen
- Myocardium
- Muscle, Skeletal
- Disease Models, Animal
- Mice, Transgenic
- Lysosomes