Duvet S - Search Results

1

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: duvet 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.

2

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: duvet s. 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.

3

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.

Potelle S, Morelle W, Dulary E, Duvet S, Vicogne D, Spriet C, Krzewinski-Recchi MA, Morsomme P, Jaeken J, Matthijs G, De Bettignies G, Foulquier F. Potelle S, et al. Among authors: duvet s. Hum Mol Genet. 2016 Apr 15;25(8):1489-500. doi: 10.1093/hmg/ddw026. Epub 2016 Feb 1. Hum Mol Genet. 2016. PMID: 27008884 Free article.

4

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: duvet 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

5

Discrimination between lumenal and cytosolic sites of deglycosylation in endoplasmic reticulum-associated degradation of glycoproteins by using benzyl mannose in CHO cell lines.

Duvet S, Foulquier F, Mir AM, Chirat F, Cacan R. Duvet S, et al. Glycobiology. 2004 Sep;14(9):841-9. doi: 10.1093/glycob/cwh103. Epub 2004 Jun 2. Glycobiology. 2004. PMID: 15175254

6

Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway.

Bernon C, Carré Y, Kuokkanen E, Slomianny MC, Mir AM, Krzewinski F, Cacan R, Heikinheimo P, Morelle W, Michalski JC, Foulquier F, Duvet S. Bernon C, et al. Among authors: duvet s. Glycobiology. 2011 Mar;21(3):363-75. doi: 10.1093/glycob/cwq169. Epub 2010 Oct 25. Glycobiology. 2011. PMID: 20978011

7

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.

Rosnoblet C, Legrand D, Demaegd D, Hacine-Gherbi H, de Bettignies G, Bammens R, Borrego C, Duvet S, Morsomme P, Matthijs G, Foulquier F. Rosnoblet C, et al. Among authors: duvet s. Hum Mol Genet. 2013 Jul 15;22(14):2914-28. doi: 10.1093/hmg/ddt146. Epub 2013 Apr 10. Hum Mol Genet. 2013. PMID: 23575229

8

Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn².

Houdou M, Lebredonchel E, Garat A, Duvet S, Legrand D, Decool V, Klein A, Ouzzine M, Gasnier B, Potelle S, Foulquier F. Houdou M, et al. Among authors: duvet s. FASEB J. 2019 Feb;33(2):2669-2679. doi: 10.1096/fj.201800387R. Epub 2018 Oct 11. FASEB J. 2019. PMID: 30307768 Free article.

9

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).

Vleugels W, Duvet S, Peanne R, Mir AM, Cacan R, Michalski JC, Matthijs G, Foulquier F. Vleugels W, et al. Among authors: duvet s. Biochimie. 2011 May;93(5):823-33. doi: 10.1016/j.biochi.2011.01.016. Epub 2011 Feb 16. Biochimie. 2011. PMID: 21315133

10

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.

Duvet S, Mouajjah D, Péanne R, Matthijs G, Raymond K, Jaeken J, Morava E, Foulquier F. Duvet S, et al. Electrophoresis. 2018 Dec;39(24):3133-3141. doi: 10.1002/elps.201800020. Epub 2018 Aug 2. Electrophoresis. 2018. PMID: 29947113

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