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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Muscle Fibers, Skeletal

Share to Oligonucleotides, Antisense

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Source

Open in PubMed Open full text

Identifiers

PMID: 28629821
DOI: 10.1016/j.ymthe.2017.05.019
PMCID: PMC5589062

Genes

GAA
TFEB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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