首页> 外文期刊>Glycobiology. >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
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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

机译:载脂蛋白C-III的质谱分析,一种用于粘蛋白型O-糖基化的简单分析方法及其在常染色体隐性角质松弛2型(ARCL2)患者中的应用

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摘要

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.
机译:载脂蛋白C-III(apoCIII)是一种具有单个粘蛋白型core-1寡糖的小糖蛋白,并通过等电聚焦(IEF)分析以诊断O-聚糖生物合成的遗传缺陷,例如先天性糖基化疾病。在本研究中,apoCIII的质谱分析是在使用少量血清进行样品制备的简单程序之后,证明是一种可靠的替代IEF的方法。它允许可再现的聚糖谱分析和未糖基化物质的检测。该方法应用于常染色体隐性隐匿性角膜松弛2型患者,并通过O-糖基化证实位点占用减少。

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