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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: schulz c. J Biol Chem. 2024 Dec;300(12):107875. doi: 10.1016/j.jbc.2024.107875. Epub 2024 Oct 10. J Biol Chem. 2024. PMID: 39395802 Free PMC article.
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: schulz c. 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.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: schulz c. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity.
Lebredonchel E, Houdou M, Potelle S, de Bettignies G, Schulz C, Krzewinski Recchi MA, Lupashin V, Legrand D, Klein A, Foulquier F. Lebredonchel E, et al. Among authors: schulz c. Biochimie. 2019 Oct;165:123-130. doi: 10.1016/j.biochi.2019.07.016. Epub 2019 Jul 24. Biochimie. 2019. PMID: 31351090 Free PMC article.
The extended cytoplasmic tail of the human B4GALNT2 is critical for its Golgi targeting and post-Golgi sorting.
Groux-Degroote S, Schulz C, Cogez V, Noël M, Portier L, Vicogne D, Solorzano C, Dall'Olio F, Steenackers A, Mortuaire M, Gonzalez-Pisfil M, Henry M, Foulquier F, Héliot L, Harduin-Lepers A. Groux-Degroote S, et al. Among authors: schulz c. FEBS J. 2018 Sep;285(18):3442-3463. doi: 10.1111/febs.14621. Epub 2018 Aug 31. FEBS J. 2018. PMID: 30067891 Free article.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A; CAUSES Study; Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM. Polla DL, et al. Among authors: schulz c. Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. doi: 10.1016/j.ajhg.2021.05.010. Epub 2021 Jun 17. Am J Hum Genet. 2021. PMID: 34143952 Free PMC article.
1,473 results