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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group; Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Kornak U, et al. Among authors: annaert w. Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23. Nat Genet. 2008. PMID: 18157129
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G. Foulquier F, et al. Among authors: annaert w. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9. doi: 10.1073/pnas.0507685103. Epub 2006 Feb 28. Proc Natl Acad Sci U S A. 2006. PMID: 16537452 Free PMC article.
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: annaert w. Nature. 2020 Feb;578(7795):419-424. doi: 10.1038/s41586-020-1968-7. Epub 2020 Jan 29. Nature. 2020. PMID: 31996848
Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells.
Coen K, Flannagan RS, Baron S, Carraro-Lacroix LR, Wang D, Vermeire W, Michiels C, Munck S, Baert V, Sugita S, Wuytack F, Hiesinger PR, Grinstein S, Annaert W. Coen K, et al. Among authors: annaert w. J Cell Biol. 2012 Jul 9;198(1):23-35. doi: 10.1083/jcb.201201076. Epub 2012 Jul 2. J Cell Biol. 2012. PMID: 22753898 Free PMC article.
Genetically encoded dendritic marker sheds light on neuronal connectivity in Drosophila.
Nicolaï LJ, Ramaekers A, Raemaekers T, Drozdzecki A, Mauss AS, Yan J, Landgraf M, Annaert W, Hassan BA. Nicolaï LJ, et al. Among authors: annaert w. Proc Natl Acad Sci U S A. 2010 Nov 23;107(47):20553-8. doi: 10.1073/pnas.1010198107. Epub 2010 Nov 8. Proc Natl Acad Sci U S A. 2010. PMID: 21059961 Free PMC article.
ADP ribosylation factor 6 (ARF6) controls amyloid precursor protein (APP) processing by mediating the endosomal sorting of BACE1.
Sannerud R, Declerck I, Peric A, Raemaekers T, Menendez G, Zhou L, Veerle B, Coen K, Munck S, De Strooper B, Schiavo G, Annaert W. Sannerud R, et al. Among authors: annaert w. Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):E559-68. doi: 10.1073/pnas.1100745108. Epub 2011 Aug 8. Proc Natl Acad Sci U S A. 2011. PMID: 21825135 Free PMC article.
144 results