title: Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
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.
authors.affiliation: Department of Molecular Medicine, National Public Health Institute, Helsinki 00290, Finland.
authors.forename: Heidi O
authors.initials: HO
authors.lastname: Nousiainen
authors.forename: Marjo
authors.initials: M
authors.lastname: Kestilä
authors.forename: Niklas
authors.initials: N
authors.lastname: Pakkasjärvi
authors.forename: Heli
authors.initials: H
authors.lastname: Honkala
authors.forename: Satu
authors.initials: S
authors.lastname: Kuure
authors.forename: Jonna
authors.initials: J
authors.lastname: Tallila
authors.forename: Katri
authors.initials: K
authors.lastname: Vuopala
authors.forename: Jaakko
authors.initials: J
authors.lastname: Ignatius
authors.forename: Riitta
authors.initials: R
authors.lastname: Herva
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D020413:3' Untranslated Regions; D000818:Animals; D001483:Base Sequence; D016022:Case-Control Studies; D002899:Chromosomes, Human, Pair 9; D018076:DNA, Complementary / Q000737:chemistry; D005091:Exons; D050612:Fatty Acid Transport Proteins / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D005787:Gene Frequency; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes; D006367:HeLa Cells; D006720:Homozygote; D006801:Humans; D007438:Introns; D051379:Mice; D008957:Models, Genetic; D016472:Motor Neuron Disease / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D020401:Primed In Situ Labeling; D017434:Protein Structure, Tertiary; D012333:RNA, Messenger / Q000378:metabolism*; D017422:Sequence Analysis, DNA
chemical_list: D020413:3' Untranslated Regions; D018076:DNA, Complementary; D050612:Fatty Acid Transport Proteins; D005819:Genetic Markers; C474082:Gle1 protein, human; D029543:Nucleocytoplasmic Transport Proteins; D012333:RNA, Messenger; C493571:SLC27A4 protein, human