Simon N. Waddington

This study compares AAV9 and AAV-F capsids for treating PDHD in mice, finding AAV-F improves survival and enzyme activity at lower doses but causes motor impairments.

This study evaluates neuronal-targeted AAV micro-dystrophin therapy in mdx52 mice, showing IV delivery improves neurobehavioural, motor, and neuromuscular deficits more effectively than ICV delivery.

This paper demonstrates the use of AAV9 vectors to deliver AntagoNATs targeting a natural antisense transcript in a DS mouse model, improving survival and reducing seizures.

This study demonstrates that AAV-delivered RNA editing machinery improves survival and reduces seizures in a mouse model of Dravet Syndrome.

This study shows that ascending vaginal E. coli infection in pregnant mice causes preterm birth and neonatal morbidity, with validated therapeutic potential for cervical gene therapy.

The paper identifies manufacturing plasmid sequences and disrupted vector genomes in liver tissue from a patient with AAV gene therapy-related hepatitis.

This study demonstrates that AAV9-mediated gene therapy prevents liver dysfunction in a mouse model of DGUOK deficiency.

This paper demonstrates that AAV-mediated HPSE2 gene transfer improves bladder function in a mouse model of urofacial syndrome by restoring neurogenic relaxation.

This study investigates the impact of LRRK2 G2019S mutation on Wnt and NFAT signaling in Parkinson's disease models, finding significant dysregulation in specific brain regions.

This study demonstrates that AAV-mediated GLDC expression reduces glycine levels and normalizes folate metabolism in a GLDC-deficient mouse model of NKH.

This study investigates spinal cord pathology in a Dravet Syndrome mouse model and identifies dysregulated pathways related to monooxygenase activity, fatty acid ligases, and lactate transporters.

This study shows that clodronate liposomes enhance lentiviral liver transduction but not AAV or LNP-mRNA in mice.

This study shows that mRNA therapy restores ureagenesis and glutathione metabolism in ASL-deficient mice, correcting liver disease and neurocognitive impairments.

This study shows that activating autophagy via Beclin-1 improves biochemical and clinical outcomes in two types of urea cycle disorders.

The paper develops a method using adeno-associated virus vectors to generate somatic-transgenic mice for non-invasive monitoring of signaling pathways in disease models.

This paper demonstrates that gene therapy using AAV8 vector corrects urea cycle and citrulline-NO cycle defects in ASL-deficient mice, reducing neuronal disease and improving behavior.