Miguel Sena‐Esteves

This study reports 5-year safety and 3-year clinical outcomes of AAV9-GLB1 gene therapy in a juvenile GM1 gangliosidosis patient, showing sustained seizure freedom and biochemical improvements.

Intravenous AAV gene therapy extends lifespan and improves clinical outcomes in feline Sandhoff Disease by reducing GM2 ganglioside accumulation and neuroinflammation.

This paper evaluates AAV serotypes for delivering U7-SnRNA to induce NF1 exon 17 skipping in mice, finding AAV-F is most effective in brain and AAV-B1 in sciatic nerve.

This phase 1/2 trial evaluates AAV9 gene therapy for GM1 gangliosidosis Type II, showing safety and some biochemical and neuroimaging improvements.

This study demonstrates that AAV9-CSA gene therapy extends lifespan and distributes human CSA in the brain and heart of Csa-/-;Xpa-/- mice, but also causes adverse effects.

This study uses CRISPR/Cas9 to target a specific mutation in LMNA-associated congenital muscular dystrophy, improving survival and cardiac function in mice.

The paper shows that reducing mutant HTT with a zinc finger protein in HD mice prevents lipid changes in brain and plasma.

This study shows that ALS-linked PFN1 mutations impair vesicular degradation in iPSC-derived microglia by disrupting autophagy, which can be mitigated by Rapamycin.