Congenital disorders of glycosylation: new defects and still counting.
Congenital disorders of glycosylation: new defects and still counting.
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DOI：
10.1007/s10545-014-9720-9
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发表时间：
2014-07
影响因子：
4.2
通讯作者：
Morava, Eva
中科院分区：
文献类型：
--
作者：
Scott, Kyle;Gadomski, Therese;Kozicz, Tamas;Morava, Eva
近50种先天代谢缺陷已被描述为N-连接糖基化的先天缺陷。这些表型多样的疾病通常表现为临床综合征，影响包括中枢神经系统、肌肉功能、运输、调节、免疫、内分泌系统和凝血在内的多个系统。使用将糖生物学与下一代测序相结合的新技术或使用串联质谱仪与分子基因搜索技术相结合的新技术，发现了越来越多的疾病。由于N-连锁糖基化缺陷而导致的“经典”先天性糖基化障碍(CDGs)的数量仍在上升。仅在2013年就发现了8种影响N-连接糖链的新型CDG。新发现的基因告诉我们糖基化在细胞-细胞相互作用、信号传递、器官发育、细胞存活和嵌合体中的重要性，以及糖基化异常对肌肉功能的影响。我们已经了解了糖基化在翻译后修饰中的重要性，以及糖基化缺陷如何模仿先前描述的可识别的表型。在许多CDG亚型中，患者出人意料地表现为长期存活，而其他一些患者则表现为非综合征性智能障碍。在这篇综述中，描述了最近发现的N-连锁CDG，重点介绍了临床表现和治疗思想。对转铁蛋白筛查结果异常的未解决的N连锁CDG病例也提出了一种诊断方法。
Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glycosylation. These phenotypically diverse disorders typically present as clinical syndromes, affecting multiple systems including the central nervous system, muscle function, transport, regulation, immunity, endocrine system, and coagulation. An increasing number of disorders have been discovered using novel techniques that combine glycobiology with next-generation sequencing or use tandem mass spectrometry in combination with molecular gene-hunting techniques. The number of “classic” congenital disorders of glycosylation (CDGs) due to N-linked glycosylation defects is still rising. Eight novel CDGs affecting N-linked glycans were discovered in 2013 alone. Newly discovered genes teach us about the significance of glycosylation in cell–cell interaction, signaling, organ development, cell survival, and mosaicism, in addition to the consequences of abnormal glycosylation for muscle function. We have learned how important glycosylation is in posttranslational modification and how glycosylation defects can imitate recognizable, previously described phenotypes. In many CDG subtypes, patients unexpectedly presented with long-term survival, whereas some others presented with nonsyndromic intellectual disability. In this review, recently discovered N-linked CDGs are described, with a focus on clinical presentations and therapeutic ideas. A diagnostic approach in unsolved N-linked CDG cases with abnormal transferrin screening results is also suggested.
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影响因子：
4.2
作者：
Mohamed, Miski;Kouwenberg, Dorus;Gardeitchik, Thatjana;Kornak, Uwe;Wevers, Ron A.;Morava, Eva
通讯作者：
Morava, Eva
影响因子：
20.3
作者：
Martinez-Duncker, I;Dupré, T;Mollicone, R
通讯作者：
Mollicone, R
影响因子：
3.8
作者：
Linssen, M.;Mohamed, M.;Morava, E.
通讯作者：
Morava, E.
DOI：
10.1016/j.bbadis.2011.02.011
发表时间：
2011-06-01
影响因子：
6.2
作者：
Mohamed, M.;Guillard, M.;Morava, E.
通讯作者：
Morava, E.
影响因子：
9.8
作者：
Lefeber, Dirk J.;Schoenberger, Johannes;Wevers, Ron A.
通讯作者：
Wevers, Ron A.