Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge von Freeze, Hudson H.

Volltext

Mannose metabolism: More than meets the eye von Sharma, Vandana, Ichikawa, Mie, Freeze, Hudson H.

Volltext

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways von Freeze, Hudson H., Chong, Jessica X., Bamshad, Michael J., Ng, Bobby G.

Volltext

Neurological Aspects of Human Glycosylation Disorders von Freeze, Hudson H, Eklund, Erik A, Ng, Bobby G, Patterson, Marc C

Volltext

Endogenous Damage-Associated Molecular Pattern Molecules at the Crossroads of Inflammation and Cancer von Srikrishna, Geetha, Freeze, Hudson H.

Volltext

Proinflammatory S100 Proteins Regulate the Accumulation of Myeloid-Derived Suppressor Cells von Sinha, Pratima, Okoro, Chinonyerem, Foell, Dirk, Freeze, Hudson H, Ostrand-Rosenberg, Suzanne, Srikrishna, Geetha

Volltext

Neurology of inherited glycosylation disorders von Freeze, Hudson H, Dr, Prof, Eklund, Erik A, MD, Ng, Bobby G, BS, Patterson, Marc C, Prof

Volltext

Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism von Sharma, Vandana, Smolin, Jamie, Nayak, Jonamani, Ayala, Julio E., Scott, David A., Peterson, Scott N., Freeze, Hudson H.

Volltext

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation von Shrimal, Shiteshu, Ng, Bobby G, Losfeld, Marie-Estelle, Gilmore, Reid, Freeze, Hudson H

Volltext

Altered glycan structures: the molecular basis of congenital disorders of glycosylation von Freeze, Hudson H, Aebi, Markus

Volltext

Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment von Zhang, Yu, PhD, Yu, Xiaomin, PhD, Ichikawa, Mie, BSc, Lyons, Jonathan J., MD, Datta, Shrimati, PhD, Lamborn, Ian T., BSc, Jing, Huie, PhD, Kim, Emily S., BSc, Biancalana, Matthew, BSc, Wolfe, Lynne A., CRNP, DiMaggio, Thomas, ADN, Matthews, Helen F., BSN, Kranick, Sarah M., MD, Stone, Kelly D., MD, PhD, Holland, Steven M., MD, Reich, Daniel S., MD, PhD, Hughes, Jason D., PhD, Mehmet, Huseyin, PhD, McElwee, Joshua, PhD, Freeman, Alexandra F., MD, Freeze, Hudson H., PhD, Su, Helen C., MD, PhD, Milner, Joshua D., MD

Volltext

Dissecting the molecular organization of the translocon-associated protein complex von 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

Volltext

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity von Tambe, Mitali A., Ng, Bobby G., Freeze, Hudson H.

Volltext

Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import von Nguyen, Duy, Stutz, Regine, Schorr, Stefan, Lang, Sven, Pfeffer, Stefan, Freeze, Hudson H., Förster, Friedrich, Helms, Volkhard, Dudek, Johanna, Zimmermann, Richard

Volltext

Update and perspectives on congenital disorders of glycosylation von Freeze, H H

Volltext

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation von Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.

Volltext

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder von Freeze, Hudson H, Wu, Xiaohua, Steet, Richard A, Bohorov, Ognian, Bakker, Jaap, Newell, John, Krieger, Monty, Spaapen, Leo, Kornfeld, Stuart

Volltext

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL) von Ng, Bobby G., Freeze, Hudson H.

Volltext

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation von Foulquier, François, Amyere, Mustapha, Jaeken, Jaak, Zeevaert, Renate, Schollen, Els, Race, Valérie, Bammens, Riet, Morelle, Willy, Rosnoblet, Claire, Legrand, Dominique, Demaegd, Didier, Buist, Neil, Cheillan, David, Guffon, Nathalie, Morsomme, Pierre, Annaert, Willem, Freeze, Hudson H., Van Schaftingen, Emile, Vikkula, Miikka, Matthijs, Gert

Volltext

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway von Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard A., Freeze, Hudson H., Goldstein, David B.

Volltext