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Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana R, Baatsen P, Poli MC, Rymen D, Jansen K, Mekahli D, Casteels I, Cassiman C, Demaerel P, Lepelley A, Frémond ML, Schrijvers R, Bossuyt X, Vints K, Huybrechts W, Tacine R, Willekens K, Corveleyn A, Boeckx B, Baggio M, Ehlers L, Munck S, Lambrechts D, Voet A, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, Meyts I. Delafontaine S, et al. Among authors: baatsen p. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 Free PMC article.
Normocalcemia is maintained in mice under conditions of calcium malabsorption by vitamin D-induced inhibition of bone mineralization.
Lieben L, Masuyama R, Torrekens S, Van Looveren R, Schrooten J, Baatsen P, Lafage-Proust MH, Dresselaers T, Feng JQ, Bonewald LF, Meyer MB, Pike JW, Bouillon R, Carmeliet G. Lieben L, et al. Among authors: baatsen p. J Clin Invest. 2012 May;122(5):1803-15. doi: 10.1172/JCI45890. Epub 2012 Apr 23. J Clin Invest. 2012. PMID: 22523068 Free PMC article.
Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels.
Jurisch-Yaksi N, Rose AJ, Lu H, Raemaekers T, Munck S, Baatsen P, Baert V, Vermeire W, Scales SJ, Verleyen D, Vandepoel R, Tylzanowski P, Yaksi E, de Ravel T, Yost HJ, Froyen G, Arrington CB, Annaert W. Jurisch-Yaksi N, et al. Among authors: baatsen p. J Cell Biol. 2013 Mar 18;200(6):709-20. doi: 10.1083/jcb.201208175. Epub 2013 Mar 11. J Cell Biol. 2013. PMID: 23479743 Free PMC article.
Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool.
Sannerud R, Esselens C, Ejsmont P, Mattera R, Rochin L, Tharkeshwar AK, De Baets G, De Wever V, Habets R, Baert V, Vermeire W, Michiels C, Groot AJ, Wouters R, Dillen K, Vints K, Baatsen P, Munck S, Derua R, Waelkens E, Basi GS, Mercken M, Vooijs M, Bollen M, Schymkowitz J, Rousseau F, Bonifacino JS, Van Niel G, De Strooper B, Annaert W. Sannerud R, et al. Among authors: baatsen p. Cell. 2016 Jun 30;166(1):193-208. doi: 10.1016/j.cell.2016.05.020. Epub 2016 Jun 9. Cell. 2016. PMID: 27293189 Free PMC article.
76 results