Author

E. Sammler

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Open access Jul 2026

LRRK2 in Focus: A Global Browser Linking Genetic Diversity to Functional Effects

The publicly available LRRK2 Browser represents an open-access, multi-ancestry resource to support LRRK2 variant interpretation and aims to enhance the translational potential of genetic and functional data for precision medicine and the implementation of gene-targeted therapies in diverse populations.

S. Grant, V. van Midden, Elias Fernandez-Toledo et al. · medRxiv · 0 citations

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...

S. Glendinning, J. Arbelo-González, L. Díaz-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