V型碳水化合物缺乏糖蛋白综合征：多萜醇-P-葡萄糖：甘露糖9- N-乙酰葡糖胺2-焦磷酸多萜醇葡糖基转移酶缺乏症
Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.
作者信息
Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K
机构信息
Georg-August-Universität Göttingen, Abt. Biochemie II, Gosslerstr. 12d, D-37073 Göttingen, Germany.
出版信息
Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13200-5. doi: 10.1073/pnas.95.22.13200.
Abstract
Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate-deficient glycoprotein syndrome (CDGS type V). Clinically this type resembles the classical type Ia of CDGS caused by the deficiency of phosphomannomutase. As a result of the glucosyltransferase deficiency in CDGS type V nonglucosylated lipid-linked oligosaccharides accumulate. The defect is leaky and glucosylated oligosaccharides are found on nascent glycoproteins. The limited availability of glucosylated lipid-linked oligosaccharides explains the incomplete usage of N-glycosylation sites in glycoproteins. This finding is reflected in the presence of transferrin forms in serum that lack one or both of the two N-linked oligosaccharides and the reduction of mannose incorporation to about one-third of control in glycoproteins of fibroblasts.
摘要
多萜醇 - P - 葡萄糖：Man9GlcNAc2 - PP - 多萜醇葡萄糖基转移酶缺乏是另一种类型的碳水化合物缺乏糖蛋白综合征（CDGS V型）的病因。临床上，这种类型类似于由磷酸甘露糖变位酶缺乏引起的经典CDGS Ia型。由于CDGS V型中葡萄糖基转移酶缺乏，未糖基化的脂质连接寡糖会积累。该缺陷是渗漏性的，在新生糖蛋白上可发现糖基化的寡糖。糖基化脂质连接寡糖的可用性有限解释了糖蛋白中N - 糖基化位点的不完全使用情况。这一发现反映在血清中转铁蛋白形式的存在上，其缺乏两个N - 连接寡糖中的一个或两个，并且在成纤维细胞的糖蛋白中甘露糖掺入量减少至对照的约三分之一。
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