Article

Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson’s Disease

2025-04-22

Abstract excerpt

<h4>Background</h4> Gain-of-kinase-function variants in LRRK2 are a leading cause for Parkinson’s disease (PD). <h4>Objectives</h4> We tested the functional impact of a novel LRRK2 variant p.V1447L identified in a young onset PD patient in vivo in peripheral blood as well as in a robust cellular assay in addition to other variants in close proximity to V1447. <h4>Methods</h4> We measured LRRK2-dependent Rab10 phos...

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Literature Corpus work: e1a153a7-583d-582c-a876-6a4dd65e478f
DOI: 10.1101/2025.04.22.25326118

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