Annie Arguello

This study shows the PD-risk GBA1 variant E326K reduces lysosomal GCase activity by disrupting LIMP2 interaction and causes lysosomal and mitochondrial dysfunction.

This study shows that LRRK2 kinase activity affects BMP and GSL levels in lysosomes, linking lysosomal dysfunction to Parkinson's disease through changes in GCase activity and BMP accumulation.

The paper compares brain delivery and efficacy of two TfR-targeted enzyme fusions in MPS II mice, finding the moderate-affinity ETV:IDS has better brain exposure and substrate reduction than the high-affinity IgG:IDS.

The paper develops and applies quantitative assays to measure LRRK2 and pRab10 levels in cellular models and human subjects to assess LRRK2 kinase activity and its association with Parkinson's disease.