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H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.
Krajka V, Vulinovic F, Genova M, Tanzer K, Jijumon AS, Bodakuntla S, Tennstedt S, Mueller-Fielitz H, Meier B, Janke C, Klein C, Rakovic A. Krajka V, et al. Among authors: rakovic a. Sci Adv. 2022 Mar 11;8(10):eabj9229. doi: 10.1126/sciadv.abj9229. Epub 2022 Mar 11. Sci Adv. 2022. PMID: 35275727 Free PMC article.
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Djarmati A, et al. Among authors: rakovic a. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1. Lancet Neurol. 2009. PMID: 19345148
Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts.
Grünewald A, Voges L, Rakovic A, Kasten M, Vandebona H, Hemmelmann C, Lohmann K, Orolicki S, Ramirez A, Schapira AH, Pramstaller PP, Sue CM, Klein C. Grünewald A, et al. Among authors: rakovic a. PLoS One. 2010 Sep 27;5(9):e12962. doi: 10.1371/journal.pone.0012962. PLoS One. 2010. PMID: 20885945 Free PMC article.
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. Kaiser FJ, et al. Among authors: rakovic a. Ann Neurol. 2010 Oct;68(4):554-9. doi: 10.1002/ana.22157. Ann Neurol. 2010. PMID: 20976771
Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons.
Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, Krainc D, Klein C. Rakovic A, et al. J Biol Chem. 2013 Jan 25;288(4):2223-37. doi: 10.1074/jbc.M112.391680. Epub 2012 Dec 4. J Biol Chem. 2013. PMID: 23212910 Free PMC article.
54 results