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Article

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

Nature genetics - 1 Feb 2008

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 18204449
DOI: 10.1038/ng.2007.65
PMCID: PMC2684619

Genes

GLE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.PMID 18204449Read ↗

A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization.Semantic proximity Read ↗

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Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.Semantic proximity Read ↗

mRNA nuclear export and human disease.Semantic proximity Read ↗

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.Semantic proximity Read ↗

Human models of GLE1-associated LCCS1 reveal neural crest deficiency and multisystem developmental failure accompanied by altered RNA metabolismSemantic proximity Read ↗

Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease.Semantic proximity Read ↗

GLE1 dysfunction compromises cellular homeostasis, spatial organization, and peripheral axon branchingSemantic proximity Read ↗

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in <i>GLE1</i>Semantic proximity Read ↗

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Peripheral neuropathy linked mRNA export factor GANP reshapes gene regulation in human motor neuronsSemantic proximity Read ↗

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