ArticleHuman molecular genetics2020
Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Lentivirus- or AAV-mediated gene therapy interventions in ischemic stroke: A systematic review of preclinicalJournal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2022Pooled it
- Backbone-Minimised Nanoplasmid DNA Systems Enable High-Titre AAV Production in Suspension HEK293 Platforms.Pharmaceutics · 2026Article
- Biodistribution of AAV1, AAV5, AAV9, and AAVDJ serotypes after intra-cisterna magna delivery in non-human primates.Molecular therapy. Methods & clinical development · 2025Article
- Development of a targeted BioPROTAC degrader selective for misfolded SOD1.Nature communications · 2025Article
- Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy.Pharmaceutics · 2025Article
- Article
- Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model.JCI insight · 2024Article
- Efficacy of an AAV vector encoding a thermostable form of glucocerebrosidase in alleviating symptoms in a Gaucher disease mouse model.Gene therapy · 2024Article
- Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease.Human molecular genetics · 2024Article
- Neurosurgical gene therapy for central nervous system diseases.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Review
- Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.EMBO molecular medicine · 2023Article
- A Novel SmallCells · 2023Article
- Improving adeno-associated viral (AAV) vector-mediated transgene expression in retinal ganglion cells: comparison of five promoters.Gene therapy · 2023Article
- Viral Vector-Based Gene Therapy.International journal of molecular sciences · 2023Review
- Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.Brain : a journal of neurology · 2023Article
- Optimized thyroid transcription factor-1 core promoter-driven microRNA-7 expression effectively inhibits the growth of human non-small-cell lung cancer cells.Journal of Zhejiang University. Science. B · 2022Article
- Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders.Bioengineering (Basel, Switzerland) · 2022Review
- Article
- Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 3 countries.
Funding
Abstract
Gaucher disease is caused by mutations in the GBA gene, which encodes for the lysosomal enzyme β-glucocerebrosidase (GCase), resulting in the accumulation of storage material in visceral organs and in some cases the brain of affected patients. While there is a commercially available treatment for the systemic manifestations, neuropathology still remains untreatable. We previously demonstrated that gene therapy represents a feasible therapeutic tool for the treatment of the neuronopathic forms of Gaucher disease (nGD). In order to further enhance the therapeutic affects to the central nervous system, we systemically delivered an adeno-associated virus (AAV) serotype 9 carrying the human GBA gene under control of a neuron-specific promoter to an nGD mouse model. Gene therapy increased the life span of treated animals, rescued the lethal neurodegeneration, normalized the locomotor behavioural defects and ameliorated the visceral pathology. Together, these results provided further indication of gene therapy as a possible effective treatment option for the neuropathic forms of Gaucher disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.