Journal
GLYCOBIOLOGY
Volume 22, Issue 8, Pages 1140-1144Publisher
OXFORD UNIV PRESS INC
DOI: 10.1093/glycob/cws086
Keywords
apolipoprotein C-III; ARCL2; mass spectrometry; O-glycan
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Funding
- Global Centers of Excellence (GCOE) Program of Osaka University from the Japan Society for the Promotion of Science (JSPS)
- [23390081]
- Grants-in-Aid for Scientific Research [23390081] Funding Source: KAKEN
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Apolipoprotein C-III (apoCIII) is a small glycoprotein with a single mucin-type core-1 oligosaccharide and is analyzed by isoelectric focusing (IEF) for the diagnosis of genetic defects in O-glycan biosynthesis such as congenital disorders of glycosylation. In the present study, mass spectrometry of apoCIII, after a simple procedure for sample preparation using a small amount of serum, was demonstrated to be a reliable alternative to IEF. It allows reproducible glycan profiling and detection of unglycosylated species. This method was applied to an autosomal recessive cutis laxa type-2 patient and demonstrated decreased site occupancy by O-glycosylation.
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