ArticleMolecular therapy : the journal of the American Society of Gene Therapy2018
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 36 citations in OpenAlex.
- Article
- Glycogen and Glycosylation: Friends or Foes?Biomolecules · 2026Review
- Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.JHEP reports : innovation in hepatology · 2026Article
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Galectin-3: a novel biomarker of glycogen storage disease type III.Cell death discovery · 2025Article
- Liver fibrosis negatively impacts in vivo gene transfer to murine hepatocytes.Nature communications · 2025Article
- The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis.Biomolecules · 2024Article
- Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.JCI insight · 2024Article
- A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.The Journal of clinical investigation · 2024Article
- Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024Review
- A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management.Protein and peptide letters · 2024Article
- Paving the way for future gene therapies: A case study of scientific spillover from delandistrogene moxeparvovec.Molecular therapy. Methods & clinical development · 2023Review
- French recommendations for the management of glycogen storage disease type III.European journal of medical research · 2023Review
- Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.Frontiers in cell and developmental biology · 2023Article
- 251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.Neuromuscular disorders : NMD · 2021Article
- Diurnal variability of glucose tetrasaccharide (GlcJIMD reports · 2021Article
- Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.International journal of molecular sciences · 2020Review
- A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.Molecular therapy. Methods & clinical development · 2020Article
- Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- AAV Vector Immunogenicity in Humans: A Long Journey to Successful Gene Transfer.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Review
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Authors and funding
23 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no cure is available for GSDIII and current treatments are mostly based on diet. Here we describe the development of a mouse model of GSDIII, which faithfully recapitulates the main features of the human condition. We used this model to develop and test novel therapies based on adeno-associated virus (AAV) vector-mediated gene transfer. First, we showed that overexpression of the lysosomal enzyme alpha-acid glucosidase (GAA) with an AAV vector led to a decrease in liver glycogen content but failed to reverse the disease phenotype. Using dual overlapping AAV vectors expressing the GDE transgene in muscle, we showed functional rescue with no impact on glucose metabolism. Liver expression of GDE, conversely, had a direct impact on blood glucose levels. These results provide proof of concept of correction of GSDIII with AAV vectors, and they indicate that restoration of the enzyme deficiency in muscle and liver is necessary to address both the metabolic and neuromuscular manifestations of the disease.
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