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Nat Genet. 2008 Feb;40(2):155-7. doi: 10.1038/ng.2007.65. Epub 2008 Jan 20.

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

Author information

1
Department of Molecular Medicine, National Public Health Institute, Helsinki 00290, Finland.

Abstract

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.

PMID:
18204449
PMCID:
PMC2684619
DOI:
10.1038/ng.2007.65
[Indexed for MEDLINE]
Free PMC Article

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