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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: goldberg ms. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
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: goldberg ms. 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.
PINK1 phosphorylates ubiquitin predominantly in astrocytes.
Barodia SK, McMeekin LJ, Creed RB, Quinones EK, Cowell RM, Goldberg MS. Barodia SK, et al. Among authors: goldberg ms. NPJ Parkinsons Dis. 2019 Dec 11;5:29. doi: 10.1038/s41531-019-0101-9. eCollection 2019. NPJ Parkinsons Dis. 2019. PMID: 31840043 Free PMC article.
Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples.
Watzlawik JO, Hou X, Fricova D, Ramnarine C, Barodia SK, Gendron TF, Heckman MG, DeTure M, Siuda J, Wszolek ZK, Scherzer CR, Ross OA, Bu G, Dickson DW, Goldberg MS, Fiesel FC, Springer W. Watzlawik JO, et al. Among authors: goldberg ms. Autophagy. 2021 Sep;17(9):2613-2628. doi: 10.1080/15548627.2020.1834712. Epub 2020 Oct 28. Autophagy. 2021. PMID: 33112198 Free PMC article.
Alterations of PINK1-PRKN signaling in mice during normal aging.
Baninameh Z, Watzlawik JO, Hou X, Richardson T, Kurchaba NW, Yan T, Di Florio DN, Fairweather D, Kang L, Nguyen JH, Kanekiyo T, Dickson DW, Noda S, Sato S, Hattori N, Goldberg MS, Ganley IG, Stauch KL, Fiesel FC, Springer W. Baninameh Z, et al. Among authors: goldberg ms. bioRxiv [Preprint]. 2024 May 1:2024.04.29.591753. doi: 10.1101/2024.04.29.591753. bioRxiv. 2024. PMID: 38746191 Free PMC article. Preprint.
337 results