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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L. Molinari F, et al. Among authors: morelle w. Am J Hum Genet. 2008 May;82(5):1150-7. doi: 10.1016/j.ajhg.2008.03.021. Epub 2008 May 1. Am J Hum Genet. 2008. PMID: 18455129 Free PMC article.
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. Foulquier F, et al. Among authors: morelle w. Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7. Am J Hum Genet. 2012. PMID: 22683087 Free PMC article.
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: morelle w. Biochem J. 2017 Apr 19;474(9):1481-1493. doi: 10.1042/BCJ20160910. Biochem J. 2017. PMID: 28270545 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: morelle w. 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
76 results