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Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.
Kentache T, Althoff CR, Caligiore F, Souche E, Schulz C, Graff J, Pieters E, Stanley P, Contessa JN, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT, Wilson MP. Kentache T, et al. Among authors: van schaftingen e. J Biol Chem. 2024 Oct 10:107875. doi: 10.1016/j.jbc.2024.107875. Online ahead of print. J Biol Chem. 2024. PMID: 39395802
ACAD10 and ACAD11 allow entry of 4-hydroxy fatty acids into β-oxidation.
Paquay S, Duraffourd J, Bury M, Heremans IP, Caligiore F, Gerin I, Stroobant V, Jacobs J, Pinon A, Graff J, Vertommen D, Van Schaftingen E, Dewulf JP, Bommer GT. Paquay S, et al. Among authors: van schaftingen e. Cell Mol Life Sci. 2024 Aug 22;81(1):367. doi: 10.1007/s00018-024-05397-8. Cell Mol Life Sci. 2024. PMID: 39174697 Free PMC article.
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.
Kentache T, Althoff CR, Caligiore F, Souche E, Schulz C, Graff J, Pieters E, Stanley P, Contessa JN, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT, Wilson MP. Kentache T, et al. Among authors: van schaftingen e. bioRxiv [Preprint]. 2024 Jun 18:2024.06.18.599300. doi: 10.1101/2024.06.18.599300. bioRxiv. 2024. PMID: 38948797 Free PMC article. Preprint.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Cabrera GM, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: van schaftingen e. Cell. 2024 Jul 11;187(14):3784. doi: 10.1016/j.cell.2024.06.004. Epub 2024 Jun 12. Cell. 2024. PMID: 38870945 Free PMC article. No abstract available.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: van schaftingen e. Cell. 2024 Jul 11;187(14):3585-3601.e22. doi: 10.1016/j.cell.2024.04.041. Epub 2024 May 30. Cell. 2024. PMID: 38821050 Free PMC article.
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: van schaftingen e. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
A novel gluconeogenic route enables efficient use of erythritol in zoonotic Brucella.
Lázaro-Antón L, Veiga-da-Cunha M, Elizalde-Bielsa A, Chevalier N, Conde-Álvarez R, Iriarte M, Letesson JJ, Moriyón I, Van Schaftingen E, Zúñiga-Ripa A. Lázaro-Antón L, et al. Among authors: van schaftingen e. Front Vet Sci. 2024 Mar 27;11:1328293. doi: 10.3389/fvets.2024.1328293. eCollection 2024. Front Vet Sci. 2024. PMID: 38601913 Free PMC article.
265 results