Institute of Physiology, University of Zurich, CH-8057 Zurich, Switzerland.
Institute of Physiology, University of Zurich, CH-8057 Zurich, Switzerland.
Trends Biochem Sci. 2015 Jul;40(7):377-84. doi: 10.1016/j.tibs.2015.03.002. Epub 2015 Mar 31.
Glycosylation is a ubiquitous modification of lipids and proteins. Despite the essential contribution of glycoconjugates to the viability of all living organisms, diseases of glycosylation in humans have only been identified over the past few decades. The recent development of next-generation DNA sequencing techniques has accelerated the pace of discovery of novel glycosylation defects. The description of multiple mutations across glycosylation pathways not only revealed tremendous diversity in functional impairments, but also pointed to phenotypic similarities, emphasizing the interconnected flow of substrates underlying glycan assembly. The current list of 100 known glycosylation disorders provides an overview of the significance of glycosylation in human development and physiology.
糖基化是脂质和蛋白质的一种普遍修饰。尽管糖缀合物对所有生物的生存能力都有重要贡献，但人类的糖基化疾病仅在过去几十年才被发现。新一代 DNA 测序技术的发展加速了新型糖基化缺陷的发现速度。糖基化途径中多种突变的描述不仅揭示了功能障碍的巨大多样性，还指出了表型相似性，强调了糖链组装的底物之间的相互关联。目前已知的 100 种糖基化疾病列表概述了糖基化在人类发育和生理学中的重要性。
