ArticleHuman molecular genetics2024
Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease.
Article in Human molecular genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Next generation AAV-F capsid gene therapy rescues disease pathology in a model of pyruvate dehydrogenase complex deficiency.Molecular therapy. Advances · 2026Article
- Backbone-Minimised Nanoplasmid DNA Systems Enable High-Titre AAV Production in Suspension HEK293 Platforms.Pharmaceutics · 2026Article
- Crossing the barrier: nanomedicine as a frontier therapy for neuropathic Gaucher disease type 3.Annals of medicine and surgery (2012) · 2026Article
- Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy.Pharmaceutics · 2025Article
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7 authors.
Funding
Abstract
Gaucher Disease (GD) is an inherited metabolic disorder caused by mutations in the GBA1 gene. It can manifest with severe neurodegeneration and visceral pathology. The most acute neuronopathic form (nGD), for which there are no curative therapeutic options, is characterised by devastating neuropathology and death during infancy. In this study, we investigated the therapeutic benefit of systemically delivered AAV9 vectors expressing the human GBA1 gene at two different doses comparing a neuronal-selective promoter with ubiquitous promoters. Our results highlight the importance of a careful evaluation of the promoter sequence used in gene delivery vectors, suggesting a neuron-targeted therapy leading to high levels of enzymatic activity in the brain but lower GCase expression in the viscera, might be the optimal therapeutic strategy for nGD.
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