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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. Among authors: west ab. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.
Aasly JO, Vilariño-Güell C, Dachsel JC, Webber PJ, West AB, Haugarvoll K, Johansen KK, Toft M, Nutt JG, Payami H, Kachergus JM, Lincoln SJ, Felic A, Wider C, Soto-Ortolaza AI, Cobb SA, White LR, Ross OA, Farrer MJ. Aasly JO, et al. Among authors: west ab. Mov Disord. 2010 Oct 15;25(13):2156-63. doi: 10.1002/mds.23265. Mov Disord. 2010. PMID: 20669305 Free PMC article.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
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, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: west ab. Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10. Lancet Neurol. 2024. PMID: 38614108 Free article.
LRRK2 autophosphorylation enhances its GTPase activity.
Liu Z, Mobley JA, DeLucas LJ, Kahn RA, West AB. Liu Z, et al. Among authors: west ab. FASEB J. 2016 Jan;30(1):336-47. doi: 10.1096/fj.15-277095. Epub 2015 Sep 22. FASEB J. 2016. PMID: 26396237 Free PMC article.
The G2019S mutation in LRRK2 imparts resiliency to kinase inhibition.
Kelly K, Wang S, Boddu R, Liu Z, Moukha-Chafiq O, Augelli-Szafran C, West AB. Kelly K, et al. Among authors: west ab. Exp Neurol. 2018 Nov;309:1-13. doi: 10.1016/j.expneurol.2018.07.012. Epub 2018 Jul 24. Exp Neurol. 2018. PMID: 30048714 Free PMC article.
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