Lost in translation

被引：4

作者：

Julier, C ^{[1
]}

机构：

[1] Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France

来源：

NATURE GENETICS | 2001年 / 29卷 / 04期

关键词：

D O I：

10.1038/ng1201-358

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Translation initiation is a tightly regulated process, central to cell function, and proteins involved in this process and its regulation are highly conserved throughout evolution. New results show that mutations in genes encoding subunits of the ubiquitously expressed eIF2B translation initiation factor are responsible for a rare neurological disorder in humans-leukoencephalopathy with vanishing white matter (VWM). The eIF2/eIF2B complex has a key role in the response to a variety of stress conditions. Notably, mutations affecting other proteins of this complex or regulatory kinases cause distinct disorders.

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页码：358 / 359

页数：2

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