Glycosylation of proteins and lipids in mammals is essential for embryogenesis and the development of all tissues. Analyses of glycosylation mutants in cultured mammalian cells and model organisms have been key to defining glycosylation pathways and the biological functions of glycans. More recently, applications of genome sequencing have revealed the breadth of rare congenital disorders of glycosylation in humans and the influence of genetics on the synthesis of glycans relevant to infectious diseases, cancer progression and diseases of the immune system. This improved understanding of glycan synthesis and functions is paving the way for advances in the diagnosis and treatment of glycosylation-related diseases, including the development of glycoprotein therapeutics through glycosylation engineering.

哺乳动物中蛋白质和脂质的糖基化对于胚胎发生和所有组织的发育至关重要。对培养的哺乳动物细胞和模型生物体中糖基化突变体的分析是定义糖基化途径和聚糖生物学功能的关键。最近，基因组测序的应用揭示了人类罕见的先天性糖基化疾病的范围，以及遗传学对与传染病、癌症进展和免疫系统疾病相关的聚糖合成的影响。对聚糖合成和功能的进一步了解正在为糖基化相关疾病的诊断和治疗的进步铺平道路，包括通过糖基化工程开发糖蛋白疗法。