Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.
Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.
复制标题
多醇代谢的遗传性疾病：从甾醇生物合成到分子糖基化的桥梁。
DOI：
10.1002/ajmg.c.31345
复制
发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Gibson,KMichael
中科院分区：
文献类型：
--
作者：
Wolfe,LynneA;Morava,Eva;He,Miao;Vockley,Jerry;Gibson,KMichael
Dolichols 是一种源自胆固醇合成甲羟戊酸途径的聚异戊二烯醇，可作为聚糖前体的载体，用于形成在蛋白质糖基化中重要的寡糖。最近描述了多醇代谢（合成、利用、再循环）的七种常染色体隐性遗传疾病，所有疾病都与脂质连接寡糖减少有关，导致蛋白质或脂质糖基化不足，从而有利于诊断实验室的检测。多系统病理学包括发育迟缓以及眼睛、心脏、皮肤和肌肉异常；结局范围从婴儿期死亡到轻度迟发性疾病。 © 2012 Wiley 期刊公司。
Dolichols, polyisoprene alcohols derived from the mevalonate pathway of cholesterol synthesis, serve as carriers of glycan precursors for the formation of oligosaccharides important in protein glycosylation. Seven autosomal‐recessively inherited disorders in the metabolism (synthesis, utilization, recycling) of the dolichols have recently been described, and all are associated with decreased lipid‐linked oligosaccharides leading to underglycosylated proteins or lipids which facilitate their detection in the diagnostic laboratory. Multisystem pathology encompasses developmental delays and eye, heart, skin and muscle abnormalities; outcomes range from death in infancy to mild, late‐onset disease. © 2012 Wiley Periodicals, Inc.