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Page 1
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. Among authors: lebredonchel e. Biochem J. 2017 Apr 19;474(9):1481-1493. doi: 10.1042/BCJ20160910. Biochem J. 2017. PMID: 28270545 Free PMC article.
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: lebredonchel e. FASEB J. 2019 Feb;33(2):2669-2679. doi: 10.1096/fj.201800387R. Epub 2018 Oct 11. FASEB J. 2019. PMID: 30307768 Free article.
Overall, this study indicates that the rescue of Golgi N-glycosylation defects in TMEM165 KO cells by extracellular Mn(2+) involves the activity of Tg and cyclopiazonic acid-sensitive pumps, probably the SERCA pumps.-Houdou, M., Lebredonchel, E., Garat, A., Duvet, S …
Overall, this study indicates that the rescue of Golgi N-glycosylation defects in TMEM165 KO cells by extracellular Mn(2+) involves the acti …
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. 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 functional link between TMEM165 and SPCA1.
Lebredonchel E, Houdou M, Hoffmann HH, Kondratska K, Krzewinski MA, Vicogne D, Rice CM, Klein A, Foulquier F. Lebredonchel E, et al. Biochem J. 2019 Nov 15;476(21):3281-3293. doi: 10.1042/BCJ20190488. Biochem J. 2019. PMID: 31652305
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Dessein AF, Hebbar E, Vamecq J, Lebredonchel E, Devos A, Ghoumid J, Mention K, Dobbelaere D, Chevalier-Curt MJ, Fontaine M, Defoort S, Smirnov V, Douillard C, Dhaenens CM. Dessein AF, et al. Among authors: lebredonchel e. Mol Genet Metab Rep. 2022 Mar 15;31:100860. doi: 10.1016/j.ymgmr.2022.100860. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782617 Free PMC article.
High CDT without clinical context: Beware of the variant.
Lebredonchel E, Raynor A, Bruneel A, Peoc'h K, Klein A. Lebredonchel E, et al. Clin Chim Acta. 2023 Apr 1;544:117333. doi: 10.1016/j.cca.2023.117333. Epub 2023 Apr 6. Clin Chim Acta. 2023. PMID: 37030568
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: lebredonchel e. 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.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM. Smirnov V, et al. Among authors: lebredonchel e. Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410. Int J Mol Sci. 2021. PMID: 34203883 Free PMC article.
15 results