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A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.
Dachsel JC, Nishioka K, Vilariño-Güell C, Lincoln SJ, Soto-Ortolaza AI, Kachergus J, Hinkle KM, Heckman MG, Jasinska-Myga B, Taylor JP, Dickson DW, Gibson RA, Hentati F, Ross OA, Farrer MJ. Dachsel JC, et al. Mech Ageing Dev. 2010 Mar;131(3):210-4. doi: 10.1016/j.mad.2010.01.009. Epub 2010 Feb 6. Mech Ageing Dev. 2010. PMID: 20144646 Free PMC article.