Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).
نویسندگان
چکیده
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.
منابع مشابه
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids. Mutations in genes involved in the homeostasis of the endoplasmic reticulum (ER), the Golgi apparatus (GA), and the vesicular trafficking from the ER to the ER-Golgi intermediate compartment (ERGIC) have been found to be associated wit...
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عنوان ژورنال:
- Chemical communications
دوره 49 96 شماره
صفحات -
تاریخ انتشار 2013