Document Detail

From glycosylation disorders back to glycosylation: what have we learned?
MedLine Citation:
PMID:  19007883     Owner:  NLM     Status:  MEDLINE    
Diseases of glycosylation have long remained confined to the rare hematological disorders, the Tn-syndrome and paroxysmal nocturnal hemoglobinuria. This rarity was often interpreted as a sign that defects of glycosylation are either lethal, or remain asymptomatic because of the large redundancy found in glycosylation pathways. The description of multiple glycosylation disorders over the last years has definitively settled the issue and demonstrated the broad range of biological processes relying on proper glycosylation. However, beyond establishing the developmental and physiological roles of glycosylation how did glycosylation disorders provided new insights to the field of glycobiology?
Thierry Hennet
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2008-10-22
Journal Detail:
Title:  Biochimica et biophysica acta     Volume:  1792     ISSN:  0006-3002     ISO Abbreviation:  Biochim. Biophys. Acta     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-09-21     Completed Date:  2009-11-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0217513     Medline TA:  Biochim Biophys Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  921-4     Citation Subset:  IM    
Institute of Physiology, University of Zürich, Switzerland.
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MeSH Terms
Carbohydrate Metabolism, Inborn Errors / complications*,  genetics
Carbohydrate-Deficient Glycoprotein Syndrome / complications,  genetics
Cytidine Monophosphate N-Acetylneuraminic Acid / metabolism
Hemoglobinuria, Paroxysmal / etiology,  genetics
Hexosyltransferases / genetics,  metabolism
Lipid Metabolism, Inborn Errors / complications
Lipopolysaccharides / metabolism
Membrane Proteins / genetics,  metabolism
Reg. No./Substance:
0/Lipopolysaccharides; 0/Membrane Proteins; 0/lipid-linked oligosaccharides; 3063-71-6/Cytidine Monophosphate N-Acetylneuraminic Acid; EC 2.4.1.-/Hexosyltransferases; EC - protein glycotransferase

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