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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation Dardas, Z; Harrold, L; Calame, DG; Salter, CG; Kikuma, T; Guay, KP; Ng, BG; Sano, K; Saad, AK; Du, HW; Sangermano, R; Patankar, SG; Jhangiani, SN; Gürsoy, S; Abdel-Hamid, MS; Ahmed, MKH; Maroofian, R; Kaiyrzhanov, R; Salayev, K; Jones, WD; Caballero, AP; McGavin, L; Spiller, M; Durkie, M; Wood, N; O'Grady, L; Goldenberg, P; Neumeyer, AM; Begtrup, A; Abdel-Ghafar, SF; Zaki, MS; Van Esch, H; Posey, JE; Wenger, OK; Scott, EM; Bujakowska, KM; Gibbs, RA; Pehlivan, D; Marafi, D; Leslie, JS; Ubeyratna, N; Day, J; Owens, M; Settle, J; Balkhy, S; Tamim, A; Alabdi, L; Alkuraya, FS; Takeda, Y; Freeze, HH; Hebert, DN; Lupski, JR; Crosby, AH; Baple, EL Share Save
Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells Tax, Gabor; Guay, Kevin P.; Pantalone, Ludovica; Ceci, Martina; Solda, Tatiana; Hitchman, Charlie J.; Hill, Johan C.; Vasiljevic, Snezana; Lia, Andrea; Modenutti, Carlos P.; Straatman, Kees R.; Santino, Angelo; Molinari, Maurizio; Zitzmann, Nicole; Hebert, Daniel N.; Roversi, Pietro; Trerotola, Marco Share Save
ER chaperones use a protein folding and quality control glyco-code Guay, Kevin P.; Ke, Haiping; Canniff, Nathan P.; George, Gracie T.; Eyles, Stephen J.; Mariappan, Malaiyalam; Contessa, Joseph N.; Gershenson, Anne; Gierasch, Lila M.; Hebert, Daniel N. Share Save
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Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation Graham, Jill B.; Sunryd, Johan C.; Mathavan, Ketan; Weir, Emma; Larsen, Ida Signe Bohse; Halim, Adnan; Clausen, Henrik; Cousin, Helene; Alfandari, Dominque; Hebert, Daniel N. Share Save
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