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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: voet a. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 Free PMC article.
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
Riestra MR, Pillay BA, Willemsen M, Kienapfel V, Ehlers L, Delafontaine S, Pinton A, Wouters M, Hombrouck A, Sauer K, Bossuyt X, Voet A, Soenen SJ, Conde CD, Bucciol G, Boztug K, Humblet-Baron S, Touzart A, Rieux-Laucat F, Notarangelo LD, Moens L, Meyts I. Riestra MR, et al. Among authors: voet a. J Clin Immunol. 2023 Dec 15;44(1):2. doi: 10.1007/s10875-023-01627-z. J Clin Immunol. 2023. PMID: 38099988
Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11.
Odrzywolski A, Tüysüz B, Debeer P, Souche E, Voet A, Dimitrov B, Krzesińska P, Vermeesch JR, Tylzanowski P. Odrzywolski A, et al. Among authors: voet a. Genes (Basel). 2024 Jan 20;15(1):129. doi: 10.3390/genes15010129. Genes (Basel). 2024. PMID: 38275609 Free PMC article.
Polyketide Synthase-Mediated O-Methyloxime Formation in the Biosynthesis of the Oximidine Anticancer Agents.
Vriens E, De Ruysscher D, Weir ANM, Dekimpe S, Steurs G, Shemy A, Persoons L, Santos AR, Williams C, Daelemans D, Crump MP, Voet A, De Borggraeve W, Lescrinier E, Masschelein J. Vriens E, et al. Among authors: voet a. Angew Chem Int Ed Engl. 2023 Aug 21;62(34):e202304476. doi: 10.1002/anie.202304476. Epub 2023 Jun 30. Angew Chem Int Ed Engl. 2023. PMID: 37218580
Intracellular BAPTA directly inhibits PFKFB3, thereby impeding mTORC1-driven Mcl-1 translation and killing MCL-1-addicted cancer cells.
Sneyers F, Kerkhofs M, Speelman-Rooms F, Welkenhuyzen K, La Rovere R, Shemy A, Voet A, Eelen G, Dewerchin M, Tait SWG, Ghesquière B, Bootman MD, Bultynck G. Sneyers F, et al. Among authors: voet a. Cell Death Dis. 2023 Sep 8;14(9):600. doi: 10.1038/s41419-023-06120-4. Cell Death Dis. 2023. PMID: 37684238 Free PMC article.
103 results