Abstract:
: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.
journal_name
Glycobiologyjournal_title
Glycobiologyauthors
Wada Y,Kadoya M,Okamoto Ndoi
10.1093/glycob/cws086subject
Has Abstractpub_date
2012-08-01 00:00:00pages
1140-4issue
8eissn
0959-6658issn
1460-2423pii
cws086journal_volume
22pub_type
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