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Article

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

Nucleic acids research - 1 Jan 2014

Dardis Andrea, Zanin Irene, Zampieri Stefania, Stuani Cristiana, Pianta Annalisa, Romanello Milena, Baralle Francisco E, Bembi Bruno, Buratti Emanuele

Abstract excerpt

Glycogen storage disease type II is a lysosomal storage disorder due to mutations of the GAA gene, which causes lysosomal alpha-glucosidase deficiency. Clinically, glycogen storage disease type II has been classified in infantile and late-onset forms. Most late-onset patients share the leaky splicing mutation c.-32-13T>G. To date, the mechanism by which the c.-32-13T>G mutation affects the GAA mRNA splicing is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24150945
DOI: 10.1093/nar/gkt987
PMCID: PMC3902950

Genes

GAA
SRSF4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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