作者
Heidi O Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi, Heli Honkala, Satu Kuure, Jonna Tallila, Katri Vuopala, Jaakko Ignatius, Riitta Herva, Leena Peltonen
发表日期
2008/2
期刊
Nature genetics
卷号
40
期号
2
页码范围
155-157
出版商
Nature Publishing Group US
简介
The most severe forms of motoneuron disease manifest in utero are characterized by marked atrophy of spinal cord motoneurons and fetal immobility. Here, we report that the defective gene underlying lethal motoneuron syndrome LCCS1 is the mRNA export mediator GLE1. Our finding of mutated GLE1 exposes a common pathway connecting the genes implicated in LCCS1, LCCS2 and LCCS3 and elucidates mRNA processing as a critical molecular mechanism in motoneuron development and maturation.
引用总数
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HO Nousiainen, M Kestilä, N Pakkasjärvi, H Honkala… - Nature genetics, 2008