Ontology highlight
ABSTRACT:
SUBMITTER: Taverna S
PROVIDER: S-EPMC7467391 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Aging 20200803 15
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout <i>GAA</i> gene have been reported. GAA catalyzes the hydrolysis of α-1,4 and α-1,6-glucosidic bonds of glycogen and its deficiency leads to lysosomal storage of glycogen in several tissues, particularly in muscle. PD is a chronic and progressive pathology usually character ...[more]