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

@article{Nousiainen2008MutationsIM,
  title={Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease},
  author={Heidi O. Nousiainen and Marjo Kestil{\"a} and Niklas Pakkasj{\"a}rvi and Heli Honkala and Satu Kuure and Jonna Tallila and Katri Vuopala and Jaakko Ignatius and Riitta Herva and L. Peltonen},
  journal={Nature Genetics},
  year={2008},
  volume={40},
  pages={155-157}
}
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.