AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG)
The paper identifies Neurexin-2 downregulation in a mouse model of PMM2-CDG and shows it can be reversed by AAV9-PMM2 gene treatment.
bioRxiv · Aug 11, 2025 · PreprintGenetics