Casey A. Maguire

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 paper develops a customized CRISPR-Cas9 base editor to correct the ACTA2 R179H mutation in a mouse model of MSMDS, improving survival and rescuing vascular and neurological phenotypes.

The paper identifies an AAV capsid, MC5, that efficiently and specifically transduces microglia via direct and intracerebroventricular injection in mice.

This paper optimizes size exclusion chromatography (SEC) for isolating biologically active EV-AAVs for non-invasive brain gene delivery, showing higher recovery and transgene expression efficiency compared to differential ultracentrifugation.

This paper describes the optimization of base editing to correct the SMN2 exon 7 mutation in SMA, achieving high editing efficiency and increased SMN protein levels in vitro and in vivo.