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Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
Smolders S, Philtjens S, Crosiers D, Sieben A, Hens E, Heeman B, Van Mossevelde S, Pals P, Asselbergh B, Dos Santos Dias R, Vermeiren Y, Vandenberghe R, Engelborghs S, De Deyn PP, Martin JJ, Cras P, Annaert W, Van Broeckhoven C; BELNEU consortium. Smolders S, et al. Among authors: annaert w. Acta Neuropathol Commun. 2021 Feb 12;9(1):25. doi: 10.1186/s40478-021-01121-w. Acta Neuropathol Commun. 2021. PMID: 33579389 Free PMC article.
Altered expression of Presenilin2 impacts endolysosomal homeostasis and synapse function in Alzheimer's disease-relevant brain circuits.
Perdok A, Van Acker ZP, Vrancx C, Sannerud R, Vorsters I, Verrengia A, Callaerts-Végh Z, Creemers E, Gutiérrez Fernández S, D'hauw B, Serneels L, Wierda K, Chávez-Gutiérrez L, Annaert W. Perdok A, et al. Among authors: annaert w. Nat Commun. 2024 Nov 29;15(1):10412. doi: 10.1038/s41467-024-54777-y. Nat Commun. 2024. PMID: 39613768 Free PMC article.
Presenilins mutated at Asp-257 or Asp-385 restore Pen-2 expression and Nicastrin glycosylation but remain catalytically inactive in the absence of wild type Presenilin.
Nyabi O, Bentahir M, Horré K, Herreman A, Gottardi-Littell N, Van Broeckhoven C, Merchiers P, Spittaels K, Annaert W, De Strooper B. Nyabi O, et al. Among authors: annaert w. J Biol Chem. 2003 Oct 31;278(44):43430-6. doi: 10.1074/jbc.M306957200. Epub 2003 Jul 28. J Biol Chem. 2003. PMID: 12885769 Free article.
ATP13A3 is a major component of the enigmatic mammalian polyamine transport system.
Hamouda NN, Van den Haute C, Vanhoutte R, Sannerud R, Azfar M, Mayer R, Cortés Calabuig Á, Swinnen JV, Agostinis P, Baekelandt V, Annaert W, Impens F, Verhelst SHL, Eggermont J, Martin S, Vangheluwe P. Hamouda NN, et al. Among authors: annaert w. J Biol Chem. 2021 Jan-Jun;296:100182. doi: 10.1074/jbc.RA120.013908. Epub 2020 Dec 17. J Biol Chem. 2021. PMID: 33310703 Free PMC article.
146 results