Golgi Glycosylation and Human Inherited Diseases
Golgi Glycosylation and Human Inherited Diseases
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DOI：
10.1101/cshperspect.a005371
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发表时间：
2011-09-01
影响因子：
7.2
通讯作者：
Ng, Bobby G.
中科院分区：
文献类型：
--
作者：
Freeze, Hudson H.;Ng, Bobby G.
高尔基工厂接收定制的糖基化物，并将其货物发送到正确的细胞位置。这个过程需要进口供体基质，运输货物和回收机械。正确糖基化的货物反映了高尔基体的质量和效率。特定设备（酶）、供体（核苷酸糖转运蛋白）或设备再循环/重组组件（COG、SEC、golgins）中的遗传疾病都可能影响糖基化。数十种人类糖基化障碍符合这些类别。许多其他的基因，有或没有熟悉的名字，注释良好的谱系，或可能的同源性将加入糖基化障碍的行列。他们广泛和不可预测的个案表型跨越传统医学专业的界限。患者的基因功能可能是难以捉摸的，但它们的共同特征可能包括改变的糖基化，这为高尔基体功能提供了线索。这篇文章集中在一组影响蛋白质或脂质糖基化的人类疾病。读者可能会发现将这些基于患者的翻译观察中的一些推广到他们自己的研究中是有用的。
The Golgi factory receives custom glycosylates and dispatches its cargo to the correct cellular locations. The process requires importing donor substrates, moving the cargo, and recycling machinery. Correctly glycosylated cargo reflects the Golgi's quality and efficiency. Genetic disorders in the specific equipment (enzymes), donors (nucleotide sugar transporters), or equipment recycling/reorganization components (COG, SEC, golgins) can all affect glycosylation. Dozens of human glycosylation disorders fit these categories. Many other genes, with or without familiar names, well-annotated pedigrees, or likely homologies will join the ranks of glycosylation disorders. Their broad and unpredictable case-by-case phenotypes cross the traditional medical specialty boundaries. The gene functions in patients may be elusive, but their common feature may include altered glycosylation that provide clues to Golgi function. This article focuses on a group of human disorders that affect protein or lipid glycosylation. Readers may find it useful to generalize some of these patient-based, translational observations to their own research.