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Page 1
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R; Genomics England Research Consortium; Genkyst Study Group; Le Meur Y, Audrézet MP, Cornec-Le Gall E. Lemoine H, et al. Among authors: foulquier f. Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi: 10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26. Am J Hum Genet. 2022. PMID: 35896117 Free PMC article.
Metalloglycobiology: The power of metals in regulating glycosylation.
Durin Z, Houdou M, Legrand D, Foulquier F. Durin Z, et al. Among authors: foulquier f. Biochim Biophys Acta Gen Subj. 2023 Sep;1867(9):130412. doi: 10.1016/j.bbagen.2023.130412. Epub 2023 Jun 20. Biochim Biophys Acta Gen Subj. 2023. PMID: 37348823 Free article. Review.
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A, Foulquier F. Durin Z, et al. Among authors: foulquier f. Transl Res. 2024 Apr;266:57-67. doi: 10.1016/j.trsl.2023.11.005. Epub 2023 Nov 25. Transl Res. 2024. PMID: 38013006 Free article.
Insights into the regulation of cellular Mn2+ homeostasis via TMEM165.
Vicogne D, Beauval N, Durin Z, Allorge D, Kondratska K, Haustrate A, Prevarskaya N, Lupashin V, Legrand D, Foulquier F. Vicogne D, et al. Among authors: foulquier f. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166717. doi: 10.1016/j.bbadis.2023.166717. Epub 2023 Apr 14. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37062452 Free PMC article.
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: foulquier f. J Biol Chem. 2024 Oct 10;300(12):107875. doi: 10.1016/j.jbc.2024.107875. Online ahead of print. J Biol Chem. 2024. PMID: 39395802 Free 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: foulquier f. bioRxiv [Preprint]. 2024 Jun 18:2024.06.18.599300. doi: 10.1101/2024.06.18.599300. bioRxiv. 2024. Update in: J Biol Chem. 2024 Oct 10;300(12):107875. doi: 10.1016/j.jbc.2024.107875 PMID: 38948797 Free PMC article. Updated. Preprint.
114 results