ArticleNucleic acids research2014
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 48 citations in OpenAlex.
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- Splicing correction by peptide-conjugated morpholinos as a novel treatment for late-onset Pompe disease.Molecular therapy. Nucleic acids · 2025Article
- Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.Molecular medicine (Cambridge, Mass.) · 2025Article
- Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.Frontiers in genetics · 2025Article
- Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.Frontiers in molecular biosciences · 2025Article
- Sensory neuropathy in patients with Pompe disease: a case series in Iran.BMC musculoskeletal disorders · 2024Article
- Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.International journal of molecular sciences · 2023Article
- Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).Current issues in molecular biology · 2023Article
- Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation.Molecular genetics and metabolism reports · 2022Article
- Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.Journal of clinical medicine · 2021Article
- Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.Life (Basel, Switzerland) · 2021Article
- Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.Molecular therapy. Methods & clinical development · 2021Article
- A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.European journal of human genetics : EJHG · 2021Article
- Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.Biomolecules · 2020Review
- Resveratrol corrects aberrant splicing ofNeural regeneration research · 2020Article
- Strategy for Designing Selective Lysosomal Acid α-Glucosidase Inhibitors: Binding Orientation and Influence on Selectivity.Molecules (Basel, Switzerland) · 2020Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 not fully known. In this study, we demonstrate that the c.-32-13T>G mutation abrogates the binding of the splicing factor U2AF65 to the polypyrimidine tract of exon 2 and that several splicing factors affect exon 2 inclusion, although the only factor capable of acting in the c.-32-13 T>G context is the SR protein family member, SRSF4 (SRp75). Most importantly, a preliminary screening using small molecules described to be able to affect splicing profiles, showed that resveratrol treatment resulted in a significant increase of normal spliced GAA mRNA, GAA protein content and activity in cells transfected with a mutant minigene and in fibroblasts from patients carrying the c-32-13T>G mutation. In conclusion, this work provides an in-depth functional characterization of the c.-32-13T>G mutation and, most importantly, an in vitro proof of principle for the use of small molecules to rescue normal splicing of c.-32-13T>G mutant alleles.
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