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Showing 1 to 8 of 8 for “"Congenital Disorders of Glycosylation"”.
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Omics-driven Insights into Congenital Disorders of Glycosylation
Contains fulltext : 327958.pdf (Publisher’s version ) (Open Access)
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Modeling congenital disorders of glycosylation in Caenorhabditis elegans: Genetic influences and structural consequences of N-linked glycosylation
<p>The attachment of oligosaccharides to the amide nitrogen of asparagine side chains in proteins is a fundamental process occurring in all metazoans. This process, known as N-glycosylation, is complex and is achieved by the precise interactions of various cellular components. The initial stage of …
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Congenital Disorders of Glycosylation IIj (CDG-IIj): Identifizierung eines Defekts der COG6-Untereinheit des Conserved Oligomeric Golgi-Komplexes
`Congenital Disorders of Glycosylation` (CDG) ist eine schnell wachsende Gruppe mit bislang 23 autosomal rezessiven, multisystemischen Erkrankungen, welche mit einem Defizit in der Glykoproteinbiosynthese einhergeht. Die Übertragung der Oligosaccharidketten auf neu synthetisierte Proteine …
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Congenital Disorder of Glycosylation (CDG) - Ih
Congenital Disorders of Glycosylation (CDG) comprise a rapidly growing group of multisystemic inherited disorders caused by mutations in genes which are required for the biosynthesis of glycoproteins. Here the molecular defect in a new type of CDG with an unusual clinical phenotype and a difficult …
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Ein Knockout-Mausmodell für Congenital Disorder of Glycosylation-IIc: Defizienz des Golgi-GDP-Fucose-Transporters
… vererbten humanen Erkrankungen der 'Congenital Disorders of Glycosylation' (CDG) werden durch Defekte von Enzymen und Transportern verursacht, die an der Modifikation von Proteinen durch kovalente Verknüpfung mit verschiedenen Zuckerbausteinen beteiligt sind. Die große Bedeutung des …
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DISSECTING THE ROLE OF GOLGI TRAFFIC IN BRAIN DEVELOPMENT ACROSS HEALTH AND DISEASE: A LESSON FROM COG5-CDG STUDIES
… embryonic development from two main classes of neural progenitor cells: apical and basal progenitors (APs and BPs, respectively). The cell fate switch from AP to BP is accompanied by changes in polarization and intracellular architecture. Interestingly, Golgi apparatus (GA) is differentially …
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Mini-Isoelektrofokussierung von Serum-Transferrin bei Patienten mit CDG-Syndrom
… vergangenen Jahren wurden einige angeborene Stoffwechselerkrankungen entdeckt, deren Ursache in einer defekten Synthese von N-gebundenen Glykoproteinen liegt, so genannte „Congenital Disorders of Glycosylation“ (CDG). Die klassische Galaktosämie und der Fruktosemangel führen auf ähnliche Weise …
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IS B4GALT5 DEFICIENCY A NEW CONGENITAL DISORDER OF GLYCOSYLATION?
Glycosphingolipids (GSLs) are relevant components of mammalian cell membranes where they play multiple roles. Many specific glycosyltransferase enzymes are responsible for the synthesis of the different oligosaccharide chains of GSLs. Knock-out mouse models lacking single or multiple …