Juan F. Antinao Diaz

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

The paper develops TDP-REG, a system using cryptic splicing to enable precise gene therapy activation in diseased neurons for ALS/FTD.

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.

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.