Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California 92037, United States.
Biochemistry. 2020 Sep 1;59(34):3064-3077. doi: 10.1021/acs.biochem.9b00565. Epub 2019 Aug 22.
In this review, we focus on the metabolism of mammalian glycan-associated monosaccharides, where the vast majority of our current knowledge comes from research done during the 1960s and 1970s. Most monosaccharides enter the cell using distinct, often tissue specific transporters from the SLC2A family. If not catabolized, these monosaccharides can be activated to donor nucleotide sugars and used for glycan synthesis. Apart from exogenous and dietary sources, all monosaccharides and their associated nucleotide sugars can be synthesized , using mostly glucose to produce all nine nucleotide sugars present in human cells. Today, monosaccharides are used as treatment options for a small number of rare genetic disorders and even some common conditions. Here, we cover therapeutic applications of these sugars and highlight biochemical gaps that must be revisited as we go forward.
在这篇综述中，我们专注于糖基化单糖的哺乳动物代谢，其中绝大多数的现有知识来自于 20 世纪 60 年代和 70 年代的研究。大多数单糖通过 SLC2A 家族中独特的、通常是组织特异性的转运蛋白进入细胞。如果不被代谢，这些单糖可以被激活为供体核苷酸糖，并用于聚糖合成。除了外源性和饮食来源，所有的单糖及其相关的核苷酸糖都可以被合成，大多数使用葡萄糖来产生存在于人类细胞中的所有 9 种核苷酸糖。如今，单糖被用作少数罕见遗传疾病甚至一些常见疾病的治疗选择。在这里，我们将介绍这些糖的治疗应用，并强调在我们前进的过程中必须重新审视的生化差距。
