Romeo D. Maciuca

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.

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.

DNL343 is an investigational CNS penetrant eIF2B activator that prevents and reverses the effects of neurodegeneration caused by the Integrated Stress Response

DNL343 reduces neurodegeneration in mouse models by inhibiting the integrated stress response and normalizing dysregulated biomarkers, with potential clinical relevance for vanishing white matter disease.

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.