GLUT1 is a highly efficient L-fucose transporter

por Ng, Bobby G., Sosicka, Paulina, Xia, Zhijie, Freeze, Hudson H.
Publicado 2022

Dissecting Functions of the Conserved Oligomeric Golgi Tethering Complex Using a Cell-Free Assay

por Cottam, Nathanael P, Wilson, Katherine M, Ng, Bobby G, Körner, Christian, Freeze, Hudson H, Ungar, Daniel
Publicado 2014

A Dominant Heterozygous Mutation in COG4 Causes Saul–Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling

por Xia, Zhi-Jie, Zeng, Xin-Xin I., Tambe, Mitali, Ng, Bobby G., Dong, P. Duc S., Freeze, Hudson H.
Publicado 2021

Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature

por Al-Otaibi, Ali, AlAyed, Alaa, Al Madhi, Asma, Saeed, Leena, Ng, Bobby G., Freeze, Hudson H., Almannai, Mohammed
Publicado 2021

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.

por Sharma, Vandana, Ichikawa, Mie, He, Ping, Scott, David A., Bravo, Yalda, Dahl, Russell, Ng, Bobby G., Cosford, Nicholas D. P., Freeze, Hudson H.
Publicado 2011

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

por Abdel Ghaffar, Tawhida Y., Ng, Bobby G., Elsayed, Solaf M., El Naghi, Suzan, Helmy, Sarah, Mohammed, Nermine, El Hennawy, Ahmed, Freeze, Hudson H.
Publicado 2020

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

por Vajro, Pietro, Zielinska, Katarzyna, Ng, Bobby G., Maccarana, Marco, Bengtson, Per, Poeta, Marco, Mandato, Claudia, D’Acunto, Elisa, Freeze, Hudson H., Eklund, Erik A.
Publicado 2018

COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells

por Xia, Zhi-Jie, Mahajan, Sonal, Paul Daniel, Earnest James, Ng, Bobby G., Saraswat, Mayank, Campos, Alexandre Rosa, Murad, Rabi, He, Miao, Freeze, Hudson H.
Publicado 2022

Dissecting the molecular organization of the translocon-associated protein complex

por Pfeffer, Stefan, Dudek, Johanna, Schaffer, Miroslava, Ng, Bobby G., Albert, Sahradha, Plitzko, Jürgen M., Baumeister, Wolfgang, Zimmermann, Richard, Freeze, Hudson H., Engel, Benjamin D., Förster, Friedrich
Publicado 2017

The Swedish COG6‐CDG experience and a comprehensive literature review

por Xia, Zhi‐Jie, Ng, Bobby G., Jennions, Elizabeth, Blomqvist, Maria, Sandqvist Wiklund, Anneli, Hedberg‐Oldfors, Carola, Gonzalez, Carlos Rodriguez, Freeze, Hudson H., Ygberg, Sofia, Eklund, Erik A.
Publicado 2022

Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions

por 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.
Publicado 2022

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking

por Wilson, Matthew P, Durin, Zoé, Unal, Özlem, Ng, Bobby G, Marrecau, Thomas, Keldermans, Liesbeth, Souche, Erika, Rymen, Daisy, Gündüz, Mehmet, Köse, Gülşen, Sturiale, Luisa, Garozzo, Domenico, Freeze, Hudson H, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Publicado 2022

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

por Nagy, Sara, Lau, Tracy, Alavi, Shahryar, Karimiani, Ehsan Ghayoor, Vallian, Jalal, Ng, Bobby G., Noroozi Asl, Samaneh, Akhondian, Javad, Bahreini, Amir, Yaghini, Omid, Uapinyoying, Prech, Bonnemann, Carsten, Freeze, Hudson H., Dissanayake, Vajira H. W., Sirisena, Nirmala D., Schmidts, Miriam, Houlden, Henry, Moreno‐De‐Luca, Andres, Maroofian, Reza
Publicado 2022

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

por del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago
Publicado 2020

Defining the clinical phenotype of Saul-Wilson syndrome.

por Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, Bober, Michael B.
Publicado 2020