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Molecular Neurodegeneration|January 24, 2018
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylationJesús Madero-Pérez, Elena Fdez, Belén Fernández, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Large-scale functional annotation establishes a reference framework for human LRRK2 variantsAnthea Cheung, Neringa Pratuseviciute, Kirsten Black, et al.
The Journal of Clinical Investigation|December 26, 2024
Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samplesDaniel Saarela, Pawel Lis, Sara Gomes, et al.
NPJ Parkinson'S Disease|February 23, 2025
Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variantShen-Yang Lim, Tzi Shin Toh, Jia Wei Hor, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinaseEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.
The Lancet. Neurology|April 13, 2024
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analysesEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
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