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ATP13A2 deficiency disrupts lysosomal polyamine export.
van Veen S, Martin S, Van den Haute C, Benoy V, Lyons J, Vanhoutte R, Kahler JP, Decuypere JP, Gelders G, Lambie E, Zielich J, Swinnen JV, Annaert W, Agostinis P, Ghesquière B, Verhelst S, Baekelandt V, Eggermont J, Vangheluwe P. van Veen S, et al. Among authors: van den haute c. Nature. 2020 Feb;578(7795):419-424. doi: 10.1038/s41586-020-1968-7. Epub 2020 Jan 29. Nature. 2020. PMID: 31996848
A lipid switch unlocks Parkinson's disease-associated ATP13A2.
Holemans T, Sørensen DM, van Veen S, Martin S, Hermans D, Kemmer GC, Van den Haute C, Baekelandt V, Günther Pomorski T, Agostinis P, Wuytack F, Palmgren M, Eggermont J, Vangheluwe P. Holemans T, et al. Among authors: van veen s, van den haute c. Proc Natl Acad Sci U S A. 2015 Jul 21;112(29):9040-5. doi: 10.1073/pnas.1508220112. Epub 2015 Jul 1. Proc Natl Acad Sci U S A. 2015. PMID: 26134396 Free PMC article.
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schüle R. Estrada-Cuzcano A, et al. Among authors: van veen s. Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307. Brain. 2017. PMID: 28137957 Free PMC article.
Parkinson disease related ATP13A2 evolved early in animal evolution.
Sørensen DM, Holemans T, van Veen S, Martin S, Arslan T, Haagendahl IW, Holen HW, Hamouda NN, Eggermont J, Palmgren M, Vangheluwe P. Sørensen DM, et al. Among authors: van veen s. PLoS One. 2018 Mar 5;13(3):e0193228. doi: 10.1371/journal.pone.0193228. eCollection 2018. PLoS One. 2018. PMID: 29505581 Free PMC article.
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Martin S, Smolders S, Van den Haute C, Heeman B, van Veen S, Crosiers D, Beletchi I, Verstraeten A, Gossye H, Gelders G, Pals P, Hamouda NN, Engelborghs S, Martin JJ, Eggermont J, De Deyn PP, Cras P, Baekelandt V, Vangheluwe P, Van Broeckhoven C; BELNEU consortium. Martin S, et al. Among authors: van veen s, van broeckhoven c, van den haute c. Acta Neuropathol. 2020 Jun;139(6):1001-1024. doi: 10.1007/s00401-020-02145-7. Epub 2020 Mar 14. Acta Neuropathol. 2020. PMID: 32172343 Free PMC article.
ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress.
Vrijsen S, Besora-Casals L, van Veen S, Zielich J, Van den Haute C, Hamouda NN, Fischer C, Ghesquière B, Tournev I, Agostinis P, Baekelandt V, Eggermont J, Lambie E, Martin S, Vangheluwe P. Vrijsen S, et al. Among authors: van veen s, van den haute c. Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31198-31207. doi: 10.1073/pnas.1922342117. Epub 2020 Nov 23. Proc Natl Acad Sci U S A. 2020. PMID: 33229544 Free PMC article.
135 results