Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant

Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant

Abstract LRRK2-related Parkinson’s disease (LRRK2-PD) is the most frequent form of monogenic PD worldwide, with important therapeutic opportunities, exemplified by the advancement in LRRK2 kinase inhibition studies/trials. However, many LRRK2 variants, especially those found in underrepresented popu...

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Main Authors: Shen-Yang Lim, Tzi Shin Toh, Jia Wei Hor, Jia Lun Lim, Lei Cheng Lit, Azlina Ahmad-Annuar, Yi Wen Tay, Jia Nee Foo, Ebonne Yulin Ng, Kalai Arasu Muthusamy, Norlinah Mohamed Ibrahim, Khairul Azmi Ibrahim, Louis Chew Seng Tan, Jannah Zulkefli, Anis Nadhirah Khairul Anuar, Kirsten Black, Pawel Lis, Fei Xie, Zhidong Cen, Kai Shi Lim, Katja Lohmann, Shalini Padmanabhan, Dario R. Alessi, Wei Luo, Eng King Tan, Esther Sammler, Ai Huey Tan
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:npj Parkinson's Disease
Online Access:https://doi.org/10.1038/s41531-025-00884-6
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https://doi.org/10.1038/s41531-025-00884-6

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