Hennet Thierry
Institute of Physiology, University of Zürich, Switzerland.
Biochim Biophys Acta. 2009 Sep;1792(9):921-4. doi: 10.1016/j.bbadis.2008.10.006. Epub 2008 Oct 22.
Diseases of glycosylation have long remained confined to the rare hematological disorders, the Tn-syndrome and paroxysmal nocturnal hemoglobinuria. This rarity was often interpreted as a sign that defects of glycosylation are either lethal, or remain asymptomatic because of the large redundancy found in glycosylation pathways. The description of multiple glycosylation disorders over the last years has definitively settled the issue and demonstrated the broad range of biological processes relying on proper glycosylation. However, beyond establishing the developmental and physiological roles of glycosylation how did glycosylation disorders provided new insights to the field of glycobiology?
糖基化疾病长期以来一直局限于罕见的血液系统疾病、Tn综合征和阵发性夜间血红蛋白尿。这种罕见性常常被解释为糖基化缺陷要么是致命的，要么由于糖基化途径中存在大量冗余而无症状的迹象。过去几年对多种糖基化疾病的描述最终解决了这个问题，并证明了依赖于正确糖基化的广泛生物过程。然而，除了确定糖基化在发育和生理中的作用之外，糖基化疾病如何为糖生物学领域提供了新的见解呢？
