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

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...

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Main Authors: Nousiainen, Heidi O, Kestilä, Marjo, Pakkasjärvi, Niklas, Honkala, Heli, Kuure, Satu, Tallila, Jonna, Vuopala, Katri, Ignatius, Jaakko, Herva, Riitta, Peltonen, Leena
Format: Artigo
Language:Inglês
Published: 2008
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2684619/
https://ncbi.nlm.nih.gov/pubmed/18204449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2007.65
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