Anastasia G. Henry

CSF glucosylsphingosine is a central readout of GCase impairment across genetic and sporadic Parkinson’s disease

This study measures CSF glucosylsphingosine (GlcSph) levels in Parkinson’s disease patients and finds elevated GlcSph in GBA1 carriers and sporadic PD, indicating central GCase pathway impairment.

A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction

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

LRRK2 Kinase Activity Regulates Parkinson's Disease-Relevant Lipids at the Lysosome

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 genetic drivers of juvenile, young, and early-onset Parkinson's Disease in India

This study identifies genetic risk factors for early-onset Parkinson's Disease in a South Asian population, finding a genome-wide significant signal in the SNCA region and associations with BSN gene variants.

Molecular architecture determines brain delivery of a transferrin-receptor targeted lysosomal enzyme

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.

Understanding LRRK2 kinase activity in preclinical models and human subjects through quantitative analysis of LRRK2 and pRab10

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.

LRRK2 kinase inhibitors induce a reversible effect in the lungs of non-human primates with no measurable pulmonary deficits

This study evaluates the lung effects of LRRK2 kinase inhibitors in non-human primates, finding reversible histopathological changes without pulmonary function deficits.