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A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C. Servián-Morilla E, et al. EMBO Mol Med. 2016 Nov 2;8(11):1289-1309. doi: 10.15252/emmm.201505815. Print 2016 Nov. EMBO Mol Med. 2016. PMID: 27807076 Free PMC article.
Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.
Takeuchi H, Fernández-Valdivia RC, Caswell DS, Nita-Lazar A, Rana NA, Garner TP, Weldeghiorghis TK, Macnaughtan MA, Jafar-Nejad H, Haltiwanger RS. Takeuchi H, et al. Proc Natl Acad Sci U S A. 2011 Oct 4;108(40):16600-5. doi: 10.1073/pnas.1109696108. Epub 2011 Sep 26. Proc Natl Acad Sci U S A. 2011. PMID: 21949356 Free PMC article.
Negative regulation of notch signaling by xylose.
Lee TV, Sethi MK, Leonardi J, Rana NA, Buettner FF, Haltiwanger RS, Bakker H, Jafar-Nejad H. Lee TV, et al. PLoS Genet. 2013 Jun;9(6):e1003547. doi: 10.1371/journal.pgen.1003547. Epub 2013 Jun 6. PLoS Genet. 2013. PMID: 23754965 Free PMC article.
53 results