Article
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Molecular therapy : the journal of the American Society of Gene Therapy - 6 Sept 2017
Goina Elisa, Peruzzo Paolo, Bembi Bruno, Dardis Andrea, Buratti Emanuele
Abstract excerpt
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the...
Topics
- Alleles
- Cell Line
- Exons
- Gene Order
- Genetic Vectors
- Glycogen
- Glycogen Storage Disease Type II
- Humans
- Muscle Fibers, Skeletal
- Mutation
- Oligonucleotides, Antisense
- Protein Binding
- RNA Splicing
- RNA Splicing Factors