Université Lille1, UGSF, F-59650 Villeneuve d'Ascq, France.
Chem Commun (Camb). 2013 Dec 14;49(96):11293-5. doi: 10.1039/c3cc45914d. Epub 2013 Oct 24.
The visualization of Golgi glycosylation defects in patients' cells with Congenital Disorders of Glycosylation (CDG) is challenging and necessitates the use of cumbersome glycan analysis methods that are barely adapted to clinical research. We show here that metabolic labelling of patient cells with alkyne-tagged sialic-acid (SiaNAl) enables an easy and reliable readout assay for the detection of CDG occurrence. It also provides valuable clues regarding the pathological processes by assessing the distribution of sialic acid analogues within the cells.
先天性糖基化障碍（CDG）患者细胞中高尔基体糖基化缺陷的可视化具有挑战性，需要使用繁琐的聚糖分析方法，这些方法几乎不适应临床研究。我们在这里表明，用炔基标记的唾液酸（SiaNAl）对患者细胞进行代谢标记，可用于检测 CDG 发生的简便可靠的读出测定法。它还通过评估细胞内唾液酸类似物的分布，为评估病理过程提供了有价值的线索。
