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Literature DB >> 18204449

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

Heidi O Nousiainen¹, Marjo Kestilä, Niklas Pakkasjärvi, Heli Honkala, Satu Kuure, Jonna Tallila, Katri Vuopala, Jaakko Ignatius, Riitta Herva, Leena Peltonen.

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.

Entities: CellLine Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2008 PMID： 18204449 PMCID： PMC2684619 DOI： 10.1038/ng.2007.65

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

15 in total

1. Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease.

Authors: Niklas Pakkasjärvi; Massimiliano Gentile; Juha Saharinen; Jarno Honkanen; Riitta Herva; Leena Peltonen; Marjo Kestilä
Journal: J Neurobiol Date: 2005-12

2. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype.

Authors: V Dubowitz
Journal: Eur J Paediatr Neurol Date: 1999 Impact factor: 3.140

3. Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA.

Authors: Frederic Kendirgi; Deborah J Rexer; Abel R Alcázar-Román; Halina M Onishko; Susan R Wente
Journal: Mol Biol Cell Date: 2005-07-06 Impact factor: 4.138

4. A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases.

Authors: R Herva; N G Conradi; H Kalimo; J Leisti; P Sourander
Journal: Am J Med Genet Date: 1988-01

5. Inositol hexakisphosphate and Gle1 activate the DEAD-box protein Dbp5 for nuclear mRNA export.

Authors: Abel R Alcázar-Román; Elizabeth J Tran; Shuangli Guo; Susan R Wente
Journal: Nat Cell Biol Date: 2006-06-18 Impact factor: 28.824

6. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.

Authors: P Mäkelä-Bengs; N Järvinen; K Vuopala; A Suomalainen; J Ignatius; M Sipilä; R Herva; A Palotie; L Peltonen
Journal: Am J Hum Genet Date: 1998-08 Impact factor: 11.025

7. The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export.

Authors: J L Watkins; R Murphy; J L Emtage; S R Wente
Journal: Proc Natl Acad Sci U S A Date: 1998-06-09 Impact factor: 11.205

8. Lethal arthrogryposis with anterior horn cell disease.

Authors: K Vuopala; J Ignatius; R Herva
Journal: Hum Pathol Date: 1995-01 Impact factor: 3.466

9. The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155.

Authors: Heidi J Rayala; Frederic Kendirgi; Dianne M Barry; Philip W Majerus; Susan R Wente
Journal: Mol Cell Proteomics Date: 2003-11-25 Impact factor: 5.911

10. An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export.

Authors: Frederic Kendirgi; Dianne M Barry; Eric R Griffis; Maureen A Powers; Susan R Wente
Journal: J Cell Biol Date: 2003-03-31 Impact factor: 10.539

78 in total

Review 1. mRNA nuclear export at a glance.

Authors: Sean R Carmody; Susan R Wente
Journal: J Cell Sci Date: 2009-06-15 Impact factor: 5.285

10. Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.

Authors: Zoran S Gucev; Nada Pop-Jordanova; Gordana Dumalovska; Orhideja Stomnaroska; Gorgji Zafirovski; Velibor B Tasic
Journal: Cases J Date: 2009-12-30

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

1. Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease.

2. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype.

3. Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA.

4. A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases.

5. Inositol hexakisphosphate and Gle1 activate the DEAD-box protein Dbp5 for nuclear mRNA export.

6. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.

7. The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export.

8. Lethal arthrogryposis with anterior horn cell disease.

9. The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155.

10. An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export.

Review 1. mRNA nuclear export at a glance.

2. mRNA nuclear export and human disease.

Review 3. Control of mammalian gene expression by selective mRNA export.

Review 4. The coming-of-age of nucleocytoplasmic transport in motor neuron disease and neurodegeneration.

5. Gle1 Regulates RNA Binding of the DEAD-Box Helicase Ded1 in Its Complex Role in Translation Initiation.

Review 6. The roles of the nuclear pore complex in cellular dysfunction, aging and disease.

Review 7. Mechanisms and consequences of subcellular RNA localization across diverse cell types.

8. Nup42 and IP₆ coordinate Gle1 stimulation of Dbp5/DDX19B for mRNA export in yeast and human cells.

9. Nuclear export factor RBM15 facilitates the access of DBP5 to mRNA.

10. Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.