About: Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I     Goto   Sponge   NotDistinct   Permalink

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Description
  • Congenital Disorders of Glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of protein N-glycosylation. On basis of the isofocusing profile, patients can be grouped in CDG type I or CDG type II. Secondary causes, such as the presence of a transferrin protein polymorphism can complicate interpretation and must be excluded before time-consuming diagnostics is initiated. Several protein variants of transferrin are known that result in a shift in pI and thereby result in double bands in IEF. Incubation of the plasma sample with neuraminidase can indicate the presence of a protein polymorphism by showing double bands at the position of asialotransferrin. Here, we present two cases with a novel protein polymorphism, resulting in a single transferrin isoform after neuraminidase digestion. Mass spectrometric analysis of immunopurified transferrin showed the presence of a non-glycosylated peptide, corresponding to the N-glycan consensus sequence of glycopeptide 2 in case 1 with the heterozygous p.Asn630Thr mutation and of glycopeptide 1 in case 2 with a heterozygous p.Asn432His mutation. Our results show the importance of mass spectrometry in the diagnostic track of CDG type I patients.
  • Congenital Disorders of Glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of protein N-glycosylation. On basis of the isofocusing profile, patients can be grouped in CDG type I or CDG type II. Secondary causes, such as the presence of a transferrin protein polymorphism can complicate interpretation and must be excluded before time-consuming diagnostics is initiated. Several protein variants of transferrin are known that result in a shift in pI and thereby result in double bands in IEF. Incubation of the plasma sample with neuraminidase can indicate the presence of a protein polymorphism by showing double bands at the position of asialotransferrin. Here, we present two cases with a novel protein polymorphism, resulting in a single transferrin isoform after neuraminidase digestion. Mass spectrometric analysis of immunopurified transferrin showed the presence of a non-glycosylated peptide, corresponding to the N-glycan consensus sequence of glycopeptide 2 in case 1 with the heterozygous p.Asn630Thr mutation and of glycopeptide 1 in case 2 with a heterozygous p.Asn432His mutation. Our results show the importance of mass spectrometry in the diagnostic track of CDG type I patients. (en)
Title
  • Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
  • Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I (en)
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  • Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
  • Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I (en)
skos:notation
  • RIV/00064165:_____/11:10071!RIV12-MZ0-00064165
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • 4
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 235782
http://linked.open...ai/riv/idVysledku
  • RIV/00064165:_____/11:10071
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • : CHROMATOGRAPHY-MASS-SPECTROMETRY; DEFICIENT GLYCOPROTEIN SYNDROME; LIQUID-CHROMATOGRAPHY; VARIANTS; PROTEINS; CDG (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • NL - Nizozemsko
http://linked.open...ontrolniKodProRIV
  • [D802B8D5B27D]
http://linked.open...i/riv/nazevZdroje
  • Journal of Inherited Metabolic Disease
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 34
http://linked.open...iv/tvurceVysledku
  • Zeman, Jiří
  • Veselá, Kateřina
  • Guillard, Mailys
  • Hansíková, Hana
  • Janssen, Alice
  • Kadoya, Machiko
  • Lefeber, Dirk J
  • Morava, Eva
  • Ondrušková, Nina
  • Van den Heuvel, LPWJ
  • Wada, Yoshinao
  • Wevers, Ron A
  • Yuasa, Isao
http://linked.open...ain/vavai/riv/wos
  • 000292829800008
http://linked.open...n/vavai/riv/zamer
issn
  • 0141-8955
number of pages
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