| Experiment Id | E-GEOD-57980 | Series Id | GSE57980 |
| Name | Skeletal muscle gene expression in the wild type and the GAA knock-out mice, a model of Pompe disease | Experiment Type | RNA-Seq |
| Study Type | WT vs. Mutant | Source | ArrayExpress |
| Curation Date | 2019-02-22 |
| description | Pompe disease is a Lysosomal glycogen storage disorder due to the deficiency of acid alpha glucosidase. The enzyme degrades glycogen to glucose and its deficiency results in progressive enlargement of glycogen-filled lysosomes in multiple tissues with skeletal and cardiac muscle most severely affected clinically. Clinical spectrum ranges from most severe infantile cardiomegally and skeletal muscle myopathy to milder late onset forms with only skeletal muscle pathology. The currently available enzyme replacement therapy has only limited effect in skeletal muscle. Here we use RNA sequencing of therapy-resistant skeletal muscle (white part of gastrocnemius muscle) to identify the differences between the diseased and healthy muscle. Total RNA was obtained from gastrocnemius muscle (white part) of acid alpha glucosidase knock-out and wild-type mice. |
