CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Univ. Lille, Lille, France.
LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation-from cellular mechanisms to cure"), France.
Electrophoresis. 2018 Dec;39(24):3133-3141. doi: 10.1002/elps.201800020. Epub 2018 Aug 2.
Congenital disorders of glycosylation (CDG) are heterogeneous group of genetic protein and lipid glycosylation abnormalities. With some 33 reported patients, MAN1B1-CDG belongs to the more frequent causes of CDG-II. MAN1B1 encodes an α1,2-mannosidase that removes the terminal mannose residue from the middle branch. Several methods have been proposed to characterize the glycosylation changes. In MAN1B1-CDG, the abnormal accumulating N-glycan structures are mostly absent or found in trace amounts in total human serum. To overcome this issue, in this study, we present a straightforward procedure based on the use of Endo-β-N-acetylglucosaminidase H to easily diagnose MAN1B1-CDG patients and mannosidase defects.
先天性糖基化障碍（CDG）是一组遗传蛋白和脂质糖基化异常的异质性疾病。MAN1B1-CDG 属于 CDG-II 中较为常见的病因之一，已有约 33 例报道。MAN1B1 编码一种α1,2-甘露糖苷酶，可从分支中间去除末端甘露糖残基。已经提出了几种方法来描述糖基化变化。在 MAN1B1-CDG 中，异常堆积的 N-聚糖结构在人血清中大部分缺失或仅微量存在。为了解决这个问题，本研究提出了一种基于使用内切-β-N-乙酰氨基葡萄糖苷酶 H 的简单方法，可轻松诊断 MAN1B1-CDG 患者和甘露糖苷酶缺陷。
