ArticleMolecular therapy. Methods & clinical development2020
A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.
Article in Molecular therapy. Methods & clinical development, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 27 citations in OpenAlex.
- Highly potent MyoAAV4A vector reverses GSD III pathology in aged mice and enables long-term muscle disease correction in young adult mice.Molecular therapy. Advances · 2026Article
- Glycogen and Glycosylation: Friends or Foes?Biomolecules · 2026Review
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- WhenMolecular therapy. Methods & clinical development · 2025Article
- Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.Science advances · 2025Article
- High-potency MyoAAV capsids enhanced skeletal muscle correction in a mouse model of GSD IIIa.Molecular therapy. Methods & clinical development · 2025Article
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- Recent developments in translational imaging of in vivo gene therapy outcomes.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Long-Term Correction of Murine Glycogen Storage Disease Type III by AAV-Mediated Gene Therapy Using an Immunotolerizing Dual Promoter to Express Bacterial Pullulanase.Advances in cell and gene therapy · 2025Article
- Galectin-3: a novel biomarker of glycogen storage disease type III.Cell death discovery · 2025Article
- 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
- 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
- Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024Review
- Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III.International journal of endocrinology · 2023Article
- Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.Frontiers in cell and developmental biology · 2023Article
- Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice.JCI insight · 2022Article
- Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders.Bioengineering (Basel, Switzerland) · 2022Review
- Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes.Frontiers in pediatrics · 2021Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type III (GSD III) is an inherited disorder caused by a deficiency of glycogen debranching enzyme (GDE), which results in the accumulation of abnormal glycogen (limit dextrin) in the cytoplasm of liver, heart, and skeletal muscle cells. Currently, there is no curative treatment for this disease. Gene therapy with adeno-associated virus (AAV) provides an optimal treatment approach for monogenic diseases like GSD III. However, the 4.6 kb human GDE cDNA is too large to be packaged into a single AAV vector due to its small carrying capacity. To overcome this limitation, we tested a new gene therapy approach in GSD IIIa mice using an AAV vector ubiquitously expressing a smaller bacterial GDE, Pullulanase, whose cDNA is 2.2 kb. Intravenous injection of the AAV vector (AAV9-CB-Pull) into 2-week-old GSD IIIa mice blocked glycogen accumulation in both cardiac and skeletal muscles, but not in the liver, accompanied by the improvement of muscle functions. Subsequent treatment with a liver-restricted AAV vector (AAV8-LSP-Pull) reduced liver glycogen content by 75% and reversed hepatic fibrosis while maintaining the effect of AAV9-CB-Pull treatment on heart and skeletal muscle. Our results suggest that AAV-mediated gene therapy with Pullulanase is a possible treatment for GSD III.
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