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

Heidi O Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi, Heli Honkala, Satu Helena Kuure, Jonna Tallila, Katri Vuopala, Jaakko Ignatius, Riitta Herva, Leena Peltonen

    Research output: Contribution to journalArticleScientificpeer-review

    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.
    Original languageEnglish
    JournalNature Genetics
    Volume40
    Issue number2
    Pages (from-to)155-157
    Number of pages3
    ISSN1061-4036
    DOIs
    Publication statusPublished - 2008
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • 3111 Biomedicine

    Cite this

    Nousiainen, H. O., Kestilä, M., Pakkasjärvi, N., Honkala, H., Kuure, S. H., Tallila, J., ... Peltonen, L. (2008). Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nature Genetics, 40(2), 155-157. https://doi.org/10.1038/ng.2007.65