ArticleThe journal of gene medicine2020
Improvement of motor and behavioral activity in Sandhoff mice transplanted with human CD34+ cells transduced with a HexA/HexB expressing lentiviral vector.
Article in The journal of gene medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Microglial replacement in a Sandhoff disease mouse model reveals myeloid-derived β-hexosaminidase is necessary for neuronal health.Nature communications · 2025Article
- Transduction of hematopoietic stem and progenitor cells by anFrontiers in drug discovery · 2025Article
- Skeleton keys and Trojan horses: a review of therapeutic delivery to the brain.Frontiers in cell and developmental biology · 2025Review
- Myeloid-derived β-hexosaminidase is essential for neuronal health and lysosome function: implications for Sandhoff disease.bioRxiv : the preprint server for biology · 2024Article
- Targeting GM2 Ganglioside Accumulation in Dementia: Current Therapeutic Approaches and Future Directions.Current molecular medicine · 2024Review
- An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome).Scientific reports · 2023Article
- Generation and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II.Molecular genetics and metabolism · 2023Article
- Rare Diseases in Glycosphingolipid Metabolism.Advances in experimental medicine and biology · 2022Article
- The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.Neuroscience letters · 2021Article
- A novel Huntington's disease mouse model to assess the role of neuroinflammation on disease progression and to develop human cell therapies.Stem cells translational medicine · 2021Article
- Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.Human molecular genetics · 2021Article
- AnFrontiers in molecular neuroscience · 2021Article
- Cell-Based Delivery Approaches for DNA-Binding Domains to the Central Nervous System.Current neuropharmacology · 2021Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundTay-Sachs and Sandhoff disease are debilitating genetic diseases that affect the central nervous system leading to neurodegeneration through the accumulation of GM2 gangliosides. There are no cures for these diseases and treatments do not alleviate all symptoms. Hematopoietic stem cell gene therapy offers a promising treatment strategy for delivering wild-type enzymes to affected cells. By genetically modifying hematopoietic stem cells to express wild-type HexA and HexB, systemic delivery of functional enzyme can be achieved.
methodsPrimary human hematopoietic stem/progenitor cells and Tay-Sachs affected cells were used to evaluate the functionality of the vector. An immunodeficient and humanized mouse model of Sandhoff disease was used to evaluate whether the HexA/HexB lentiviral vector transduced cells were able to improve the phenotypes associated with Sandhoff disease. An immunodeficient NOD-RAG1-/-IL2-/- (NRG) mouse model was used to evaluate whether the HexA/HexB vector transduced human CD34+ cells were able to engraft and undergo normal multilineage hematopoiesis.
resultsHexA/HexB lentiviral vector transduced cells demonstrated strong expression of HexA and HexB and restored enzyme activity in Tay-Sachs affected cells. Upon transplantation into a humanized Sandhoff disease mouse model, improved motor and behavioral skills were observed. Decreased GM2 gangliosides were observed in the brains of HexA/HexB vector transduced cell transplanted mice. Increased peripheral blood levels of HexB was also observed in transplanted mice. Normal hematopoiesis in the peripheral blood and various lymphoid organs was also observed in transplanted NRG mice.
conclusionsThese results highlight the potential use of stem cell gene therapy as a treatment strategy for Tay-Sachs and Sandhoff disease.
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