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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. Among authors: takeuchi h. 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.
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C. Servián-Morilla E, et al. Among authors: takeuchi m, takeuchi h. Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3. Acta Neuropathol. 2020. PMID: 31897643 Free PMC article.
Role of glycosylation of Notch in development.
Takeuchi H, Haltiwanger RS. Takeuchi H, et al. Semin Cell Dev Biol. 2010 Aug;21(6):638-45. doi: 10.1016/j.semcdb.2010.03.003. Epub 2010 Mar 10. Semin Cell Dev Biol. 2010. PMID: 20226260 Free PMC article. Review.
Significance of glycosylation in Notch signaling.
Takeuchi H, Haltiwanger RS. Takeuchi H, et al. Biochem Biophys Res Commun. 2014 Oct 17;453(2):235-42. doi: 10.1016/j.bbrc.2014.05.115. Epub 2014 Jun 6. Biochem Biophys Res Commun. 2014. PMID: 24909690 Free PMC article. Review.
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.
3,694 results