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SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics Lai, Dulcie; Sosicka, Paulina; Williams, Damian J.; Bowyer, Maryann E.; Ressler, Andrew K.; Kohrt, Sarah E.; Muron, Savannah J.; Crino, Peter B.; Freeze, Hudson H.; Boland, Michael J.; Heinzen, Erin L. Share Save
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
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines Shah, Rameen; Eklund, Erik A.; Radenkovic, Silvia; Sadek, Mustafa; Shammas, Ibrahim; Verberkmoes, Sanne; Ng, Bobby G.; Freeze, Hudson H.; Edmondson, Andrew C.; He, Miao; Kozicz, Tamas; Altassan, Ruqaiah; Morava, Eva Share Save
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A complement C4-derived glycopeptide is a biomarker for PMM2-CDG Garapati, Kishore; Budhraja, Rohit; Saraswat, Mayank; Kim, Jinyong; Joshi, Neha; Sachdeva, Gunveen S.; Jain, Anu; Ligezka, Anna N.; Radenkovic, Silvia; Ramarajan, Madan Gopal; Udainiya, Savita; Raymond, Kimiyo; He, Miao; Lam, Christina; Larson, Austin; Edmondson, Andrew C.; Sarafoglou, Kyriakie; Larson, Nicholas B.; Freeze, Hudson H.; Schultz, Matthew J.; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh Share Save
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Metabolic clogging of mannose triggers dNTP loss and genomic instability in human cancer cells Harada, Yoichiro; Mizote, Yu; Suzuki, Takehiro; Hirayama, Akiyoshi; Ikeda, Satsuki; Nishida, Mikako; Hiratsuka, Toru; Ueda, Ayaka; Imagawa, Yusuke; Maeda, Kento; Ohkawa, Yuki; Murai, Junko; Freeze, Hudson H.; Miyoshi, Eiji; Higashiyama, Shigeki; Udono, Heiichiro; Dohmae, Naoshi; Tahara, Hideaki; Taniguchi, Naoyuki Share Save
Agm1/Pgm-3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development Greig, Kylle T.; Antonchuk, Jennifer; Metcalf, Donald; Morgan, Phillip O.; Krebs, Danielle L.; Zhang, Jian-Guo; Hacking, Douglas F.; Bode, Lars; Robb, Lorraine; Kranz, Christian; de Graaf, Carolyn; Bahlo, Melanie; Nicola, Nicos A.; Nutt, Stephen L.; Freeze, Hudson H.; Alexander, Warren S.; Hilton, Douglas J.; Kile, Benjamin T. Share Save
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Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement Mahajan, Sonal; Ng, Bobby George; AlAbdi, Lama; Earnest, Paul Daniel James; Sosicka, Paulina; Patel, Nisha; Helaby, Rana; Abdulwahab, Firdous; He, Miao; Alkuraya, Fowzan S.; Freeze, Hudson H. Share Save
Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions Sosicka, Paulina; Ng, Bobby G.; Pepi, Lauren E.; Shajahan, Asif; Wong, Maurice; Scott, David A.; Matsumoto, Kenjiroo; Xia, Zhi-Jie; Lebrilla, Carlito B.; Haltiwanger, Robert S.; Azadi, Parastoo; Freeze, Hudson H. Share Save
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation Shimada, Shino; Ng, Bobby G.; White, Amy L.; Nickander, Kim K.; Turgeon, Coleman; Liedtke, Kristen L.; Lam, Christina T.; Font-Montgomery, Esperanza; Lourenco, Charles M.; He, Miao; Peck, Dawn S.; Umana, Luis A.; Uhles, Crescenda L.; Haynes, Devon; Wheeler, Patricia G.; Bamshad, Michael J.; Nickerson, Deborah A.; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M.; Scalco, Fernanda B.; Martinez, Noelia N.; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah, V; Scheffer, Ingrid E.; Rosenzweig, Sergio D.; Adams, David R.; Gahl, William A.; Malicdan, May Christine, V; Raymond, Kimiyo M.; Freeze, Hudson H.; Wolfe, Lynne A. Share Save
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Wilson, Matthew P.; Durin, Zoe; Unal, Ozlem; Ng, Bobby G.; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gunduz, Mehmet; Kose, Guluen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H.; Jaeken, Jaak; Foulquier, Francois; Matthijs, Gert Share Save
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis Klaver, Elsenoor J.; Dukes-Rimsky, Lynn; Kumar, Brijesh; Xia, Zhi-Jie; Dang, Tammie; Lehrman, Mark A.; Angel, Peggi; Drake, Richard R.; Freeze, Hudson H.; Steet, Richard; Flanagan-Steet, Heather Share Save
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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Wilson, Matthew P.; Garanto, Alejandro; Vairo, Filippo Pinto E.; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupre, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M.; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodriguez-Palmero, Agusti; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C. H.; Jaeken, Jaak; Freeze, Hudson H.; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J. Share Save
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy Raynor, Alexandre; Haouari, Walid; Ng, Bobby G.; Cholet, Sophie; Harroche, Annie; Raulet-Bussian, Celia; Lounis-Ouaras, Samra; Vuillaumier-Barrot, Sandrine; Pascreau, Tiffany; Borgel, Delphine; Freeze, Hudson H.; Fenaille, Francois; Bruneel, Arnaud Share Save
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