2. Academic Validation
  3. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

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

  • Nat Genet. 2008 Feb;40(2):155-7. doi: 10.1038/ng.2007.65.
Heidi O Nousiainen 1,  Marjo Kestilä,  Niklas Pakkasjärvi,  Heli Honkala,  Satu Kuure,  Jonna Tallila,  Katri Vuopala,  Jaakko Ignatius,  Riitta Herva,  Leena Peltonen
Affiliations

Affiliation

  • 1 Department of Molecular Medicine, National Public Health Institute, Helsinki 00290, Finland.
PMID: 18204449 DOI: 10.1038/ng.2007.65
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.

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