Jillian H. Kluss

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.

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

The paper identifies JIP4 and RILPL1 as opposing motor adaptors regulating lysosomal tubulation through differential microtubule transport.

Intronic GBA1 variant rs3115534-G, common in African and African admixed ancestry but rare elsewhere, raises Parkinson's disease risk (OR 1.58) and lowers onset age.

This study reports the cryo-EM structure of LRRK1 and its dimer, revealing structural differences from LRRK2 and providing insights into their regulation.

This study identifies Auxilin mutations as a cause of Parkinson's disease by showing they impair clathrin-mediated trafficking at the Golgi and synapse, leading to neuropathological lesions.

The paper presents a GWAS locus browser for Parkinson's disease that helps prioritize genes associated with risk variants from multiple GWAS studies.