Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.

Abstract excerpt

BACKGROUND: Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid alpha glucosidase (GAA) enzyme due to mutations in the GAA gene. As a result, undigested glycogen accumulates within lysosomes causing their dysfunction. From a clinical point of view, the disease can be classified in infantile-onset (IO) and late-onset (LO) forms. The common GAA...

Topics

• Humans
• RNA, Small Nuclear
• Exons
• alpha-Glucosidases
• Glycogen Storage Disease Type II
• Mutation