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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: potelle s. 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.
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Morava E, et al. Among authors: potelle s. Am J Hum Genet. 2021 Jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11. Am J Hum Genet. 2021. PMID: 33979636 Free PMC article.
Evidence for splice transcript variants of TMEM165, a gene involved in CDG.
Krzewinski-Recchi MA, Potelle S, Mir AM, Vicogne D, Dulary E, Duvet S, Morelle W, de Bettignies G, Foulquier F. Krzewinski-Recchi MA, et al. Among authors: potelle s. Biochim Biophys Acta Gen Subj. 2017 Apr;1861(4):737-748. doi: 10.1016/j.bbagen.2017.01.011. Epub 2017 Jan 11. Biochim Biophys Acta Gen Subj. 2017. PMID: 28088503
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: potelle s. 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.
Investigating the function of Gdt1p in yeast Golgi glycosylation.
Dulary E, Yu SY, Houdou M, de Bettignies G, Decool V, Potelle S, Duvet S, Krzewinski-Recchi MA, Garat A, Matthijs G, Guerardel Y, Foulquier F. Dulary E, et al. Among authors: potelle s. Biochim Biophys Acta Gen Subj. 2018 Mar;1862(3):394-402. doi: 10.1016/j.bbagen.2017.11.006. Epub 2017 Nov 3. Biochim Biophys Acta Gen Subj. 2018. PMID: 29108953
Manganese-induced turnover of TMEM165.
Potelle S, Dulary E, Climer L, Duvet S, Morelle W, Vicogne D, Lebredonchel E, Houdou M, Spriet C, Krzewinski-Recchi MA, Peanne R, Klein A, de Bettignies G, Morsomme P, Matthijs G, Marquardt T, Lupashin V, Foulquier F. Potelle S, et al. Biochem J. 2017 Apr 19;474(9):1481-1493. doi: 10.1042/BCJ20160910. Biochem J. 2017. PMID: 28270545 Free PMC article.
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