Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.

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

Glycobiology

journal_title

Glycobiology

authors

Wada Y,Kadoya M,Okamoto N

doi

10.1093/glycob/cws086

subject

Has Abstract

pub_date

2012-08-01 00:00:00

pages

1140-4

issue

8

eissn

0959-6658

issn

1460-2423

pii

cws086

journal_volume

22

pub_type

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