Author

D. Alessi

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Open access Aug 2026

The VPS35 p.A320V variant segregates with Parkinson's disease in a pesticide-exposed family

While VPS35 p.A320V co-segregated with PD in this family, it did not exhibit the characteristic LRRK2-associated biomarker signature observed in VPS35 p.D620N carriers, it is possible that p.A320V exerts a subtle effect on VPS35 function that was not captured by the assays performed and that chronic pesticide exposure contributed to disease penetration in this pedigree.

S. Glendinning, J. A. Arbelo Gonzalez, L. Diaz-Feliz et al. · medRxiv · 0 citations

Open access Jun 2026

Large-scale functional annotation establishes a reference framework for human LRRK2 variants

Functional effect sizes correlated with pathway activation in patient-derived immune cells, altogether providing a framework for ACMG-based variant interpretation in which kinase activation can support PS3 functional evidence for reclassification of variants.

Anthea Cheung, Neringa Pratuseviciute, Kirsten Black et al. · medRxiv · 0 citations