Leillani L. Ha

This study examines cardiac pathology in spinal muscular atrophy (SMA) and shows that SMN deficiency causes metabolic and PTEN signaling changes in cardiomyocytes.

The paper measures circulating Tau and phosphorylated Tau profiles in SMA patients across different age groups and treatments, finding distinct alterations in adults and transient increases after gene therapy in infants.

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.

This study evaluates the safety of onasemnogene abeparvovec gene therapy in SMA patients, showing transient liver enzyme elevations that normalized, with no impact from concurrent nusinersen treatment.

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.