Search Results - "Freeze, H."

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

“…Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven…”
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Mannose metabolism: More than meets the eye by Sharma, Vandana, Ichikawa, Mie, Freeze, Hudson H.

“…•Mammalian plasma contains 50–100μM mannose and dietary mannose supplements raise it 3–5-fold.•Mutations in mannose-metabolizing enzymes cause Congenital…”
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Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways by Freeze, Hudson H., Chong, Jessica X., Bamshad, Michael J., Ng, Bobby G.

“…Over 100 human genetic disorders result from mutations in glycosylation-related genes. In 2013, a new glycosylation disorder was reported every 17 days. This…”
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Neurological Aspects of Human Glycosylation Disorders by Freeze, Hudson H, Eklund, Erik A, Ng, Bobby G, Patterson, Marc C

“…This review presents principles of glycosylation, describes the relevant glycosylation pathways and their related disorders, and highlights some of the…”
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Endogenous Damage-Associated Molecular Pattern Molecules at the Crossroads of Inflammation and Cancer by Srikrishna, Geetha, Freeze, Hudson H.

“…Inflammatory mediators play important roles in the development and progression of cancer. Cellular stress, damage, inflammation, and necrotic cell death cause…”
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Proinflammatory S100 Proteins Regulate the Accumulation of Myeloid-Derived Suppressor Cells by Sinha, Pratima, Okoro, Chinonyerem, Foell, Dirk, Freeze, Hudson H, Ostrand-Rosenberg, Suzanne, Srikrishna, Geetha

“…Chronic inflammation is a complex process that promotes carcinogenesis and tumor progression; however, the mechanisms by which specific inflammatory mediators…”
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Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism by Sharma, Vandana, Smolin, Jamie, Nayak, Jonamani, Ayala, Julio E., Scott, David A., Peterson, Scott N., Freeze, Hudson H.

“…Mannose is an important monosaccharide for protein glycosylation in mammals but is an inefficient cellular energy source. Using a C57BL6/J mouse model of…”
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Mutations in STT3A and STT3B cause two congenital disorders of glycosylation by Shrimal, Shiteshu, Ng, Bobby G, Losfeld, Marie-Estelle, Gilmore, Reid, Freeze, Hudson H

“…We describe two unreported types of congenital disorders of glycosylation (CDG) which are caused by mutations in different isoforms of the catalytic subunit of…”
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Dissecting the molecular organization of the translocon-associated protein complex by 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

“…In eukaryotic cells, one-third of all proteins must be transported across or inserted into the endoplasmic reticulum (ER) membrane by the ER protein…”
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N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity by Tambe, Mitali A., Ng, Bobby G., Freeze, Hudson H.

“…Patients with pathogenic mutations in NGLY1 cannot make tears and have global developmental delay and liver dysfunction. Traditionally, NGLY1 cleaves intact…”
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Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment by 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

“…Background Identifying genetic syndromes that lead to significant atopic disease can open new pathways for investigation and intervention in allergy. Objective…”
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Altered glycan structures: the molecular basis of congenital disorders of glycosylation by Freeze, Hudson H, Aebi, Markus

“…Congenital disorders of glycosylation (CDG) are a group of diseases that affect glycoprotein biogenesis. Eighteen different types of CDG have been defined…”
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Neurology of inherited glycosylation disorders by Freeze, Hudson H, Dr, Prof, Eklund, Erik A, MD, Ng, Bobby G, BS, Patterson, Marc C, Prof

“…Summary Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The…”
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Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import by Nguyen, Duy, Stutz, Regine, Schorr, Stefan, Lang, Sven, Pfeffer, Stefan, Freeze, Hudson H., Förster, Friedrich, Helms, Volkhard, Dudek, Johanna, Zimmermann, Richard

“…In mammalian cells, one-third of all polypeptides are transported into or across the ER membrane via the Sec61 channel. While the Sec61 complex facilitates…”
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Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL) by Ng, Bobby G., Freeze, Hudson H.

“…Glycosylation - enabling genes are thought to comprise approximately 1–2 % of the human genome, thus, it is not surprising that more than 100 genetic disorders…”
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Update and perspectives on congenital disorders of glycosylation by Freeze, H H

“…Defects in nine genes of the N-linked glycosylation pathway cause congenital disorders of glycosylation (CDGs) and serious medical consequences. Although…”
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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation by 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.

“…Biochemical analysis and whole-exome sequencing identified mutations in the Golgi-localized UDP-galactose transporter SLC35A2 that define an undiagnosed…”
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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation by 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

“…Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also on a subtle balance between…”
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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder by Freeze, Hudson H, Wu, Xiaohua, Steet, Richard A, Bohorov, Ognian, Bakker, Jaap, Newell, John, Krieger, Monty, Spaapen, Leo, Kornfeld, Stuart

“…The congenital disorders of glycosylation (CDG) are characterized by defects in N-linked glycan biosynthesis that result from mutations in genes encoding…”
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The Metabolic Origins of Mannose in Glycoproteins by Ichikawa, Mie, Scott, David A., Losfeld, Marie-Estelle, Freeze, Hudson H.

“…Mannose in N-glycans is derived from glucose through phosphomannose isomerase (MPI, Fru-6-P ↔ Man-6-P) whose deficiency causes a congenital disorder of…”
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