Mass spectrometry for congenital disorders of glycosylation, CDG
Mass spectrometry for congenital disorders of glycosylation, CDG
复制标题
DOI：
10.1016/j.jchromb.2006.02.028
复制
发表时间：
2006-06-21
影响因子：
3
通讯作者：
Wada, Yoshinao
中科院分区：
文献类型：
--
作者：
Wada, Yoshinao
先天性糖基化疾病（CDG）构成了一组影响N-连接糖基化途径的疾病。CDG的经典类型，现在被称为CDG-I，是由于早期糖基化途径中的缺陷导致的，该途径用于脂质连接的寡糖的生物合成及其在内质网中转移到蛋白质，而CDG-II疾病是由后续加工步骤中的缺陷引起的。1992年，质谱（MS）通过将CDG-I缺陷定位于早期糖基化途径，在CDG研究中产生了里程碑。目前，转铁蛋白的质谱，无论是通过电喷雾电离或基质辅助激光解吸/电离，发挥核心作用，在实验室筛选CDG-I。另一方面，最近开发的糖肽分析的糖蛋白的位点特异性聚糖允许详细的聚糖分析，在一个高通量的方式，将解决问题的CDG-II诊断。这些技术将有助于研究CDG，这一领域现在扩展到O-连接糖基化和获得性以及遗传性条件，可以影响蛋白质糖基化。(c)2006 Elsevier B. V.保留所有权利。
Congenital disorders of glycosylation (CDG) constitute a group of diseases affecting N-linked glycosylation pathways. The classical type of CDG, now called CDG-I, results from deficiencies in the early glycosylation pathway for biosynthesis of lipid-linked oligosaccharide and its transfer to proteins in endoplasmic reticulum, while the CDG-II diseases are caused by defects in the subsequent processing steps. Mass spectrometry (MS) produced a milestone in CDG research, by localizing the CDG-I defect to the early glycosylation pathway in 1992. Currently, MS of transferrin, either by electrospray ionization or matrix-assisted laser desorption/ionization, plays the central role in laboratory screening of CDG-I. On the other hand, the glycopeptide analysis recently developed for site-specific glycans of glycoproteins allows detailed glycan analysis in a high throughput manner and will solve problems in CDG-II diagnosis. These techniques will facilitate studying CDG, a field now expanding to O-linked glycosylation and to acquired as well as inherited conditions that can affect protein glycosylation. (c) 2006 Elsevier B.V. All rights reserved.