| Phosphorylation impacts GLE1 nuclear localization and association with DDX1. | Phosphorylation impacts GLE1 nuclear localization and association with DDX1.
Sharma M, Mason AC, Dawson TR, Wente SR. | 01/31/2024 |
| Biallelic variants in GLE1 with survival beyond neonatal period. | Biallelic variants in GLE1 with survival beyond neonatal period.
Yates TM, Campeau PM, Ghoumid J, Kibaek M, Larsen MJ, Smol T, Albaba S, Hertz JM, Balasubramanian M. | 08/21/2021 |
| Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites. | Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites.
Sharma M, Wente SR., Free PMC Article | 06/12/2021 |
| Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. | Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B., Free PMC Article | 05/15/2021 |
| Functions of Gle1 are governed by two distinct modes of self-association. | Functions of Gle1 are governed by two distinct modes of self-association.
Mason AC, Wente SR., Free PMC Article | 05/8/2021 |
| This study supports models wherein SGs play a role in cell evasion of apoptosis and further reveal Gle1A and SG functions as targets for clinical approaches directed at chemoresistant/refractory cells. | Gle1 mediates stress granule-dependent survival during chemotoxic stress.
Glass L, Wente SR., Free PMC Article | 03/7/2020 |
| Results found that Nup159 did not accelerate ADP release, while Gle1 actually slowed it independently of Mg(2+) which is not consistent with Nup159 acting as a nucleotide exchange factor to promote ADP release and Dbp5 ATPase cycling. Instead, in the presence of Nup159, the interaction between Gle1 and ADP-bound Dbp5 was found more reduced, suggesting that Nup159 alters the Dbp5-Gle1 to aid Gle1 release from Dbp5. | Nup159 Weakens Gle1 Binding to Dbp5 But Does Not Accelerate ADP Release.
Wong EV, Gray S, Cao W, Montpetit R, Montpetit B, De La Cruz EM., Free PMC Article | 06/22/2019 |
| Mitogen-activated protein kinases and glycogen synthase kinase 3 phosphorylate Gle1A and thereby coordinate stress granule dynamics by altering DDX3 function. | MAPK- and glycogen synthase kinase 3-mediated phosphorylation regulates the DEAD-box protein modulator Gle1 for control of stress granule dynamics.
Aditi, Mason AC, Sharma M, Dawson TR, Wente SR., Free PMC Article | 05/4/2019 |
| preliminary data show an intriguing expression profile of Gle1, MART3 and FUS genes in Spinal muscular atrophy (SMA), and suggest a critical role of FUS protein in the SMA pathogenesis. | The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy.
Alrafiah A, Alghanmi M, Almashhadi S, Aqeel A, Awaji A. | 03/23/2019 |
| Pathogenic variants in the GLE1 gene are rare in Chinese ALS patients. | Screening of GLE1 mutations in Chinese amyotrophic lateral sclerosis patients.
Zhang K, Liu Q, Shen D, Tai H, Fu H, Liu S, Chen J, Li X, Liu M, Zhang X, Cui L. | 10/6/2018 |
| Data indicate 2 siblings with a homozygous p.I684T mutation in RNA export mediator (GLE1). | A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.
Paakkola T, Vuopala K, Kokkonen H, Ignatius J, Valkama M, Moilanen JS, Fahiminiya S, Majewski J, Hinttala R, Uusimaa J. | 08/11/2018 |
| These results imply that DBP5, GLE1 and IP6 have a conserved and individual function in the cytoplasmic mRNA expression. Variations in phenotype are due to the difference in each function of DBP5, GLE1 and IPPK in intracellular mRNA metabolism. | Depletion of mRNA export regulator DBP5/DDX19, GLE1 or IPPK that is a key enzyme for the production of IP6, resulting in differentially altered cytoplasmic mRNA expression and specific cell defect.
Okamura M, Yamanaka Y, Shigemoto M, Kitadani Y, Kobayashi Y, Kambe T, Nagao M, Kobayashi I, Okumura K, Masuda S., Free PMC Article | 08/4/2018 |
| We identified bi-allelic mutations in GLE1 in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period. Each affected child had missense variants predicted to result in amino acid substitutions near the C-terminus of GLE1 that are predicted to disrupt protein-protein interaction or GLE1 protein targeting. | Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said E, Chong JX, Hempel M, Denecke J, Soler P, Strom T, Nickerson DA, Kubisch C, University of Washington Center for Mendelian Genomics, Bamshad MJ, Lessel D., Free PMC Article | 06/9/2018 |
| It was concluded that the amyotrophic lateral sclerosis-linked Gle1-c.1965-2A>C mutation generates a protein isoform capable of both Gle1A- and Gle1B-ascribed functions, and thereby uncoupled from normal mechanisms of Gle1 regulation. | An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms.
Aditi, Glass L, Dawson TR, Wente SR., Free PMC Article | 11/11/2017 |
| We also suggest that lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn disease (LAAHD), the two AMC subtypes related to GLE1, do not have sufficient clinical or molecular differentiation to be considered allelic disorders. Rather, GLE1 mutations cause a variable spectrum of AMC severity including a non-lethal variant described herein | Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
Smith C, Parboosingh JS, Boycott KM, Bönnemann CG, Mah JK, Care4Rare Canada Consortium, Lamont RE, Micheil Innes A, Bernier FP. | 07/1/2017 |
| Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6. | Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6.
Fellenberg J, Sähr H, Kunz P, Zhao Z, Liu L, Tichy D, Herr I. | 05/21/2016 |
| Role for Gle1A during stress granule formation and translation regulation during environmental stress responses is examined. | Cytoplasmic hGle1A regulates stress granules by modulation of translation.
Aditi, Folkmann AW, Wente SR., Free PMC Article | 02/6/2016 |
| We report the identification of the first heterozygous mutations in GLE1 ever found to be associated with amyotrophic lateral sclerosis. | Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA., Free PMC Article | 11/21/2015 |
| Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are associated with defective Gle1 function during the export of mRNA. [review] | Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.
Folkmann AW, Dawson TR, Wente SR., Free PMC Article | 09/20/2014 |
| Report documents a requirement for Gle1 self-association during mRNA export and uncover molecular defects underlying a lethal human disease lethal congenital contracture syndrome-1. | Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease.
Folkmann AW, Collier SE, Zhan X, Aditi, Ohi MD, Wente SR., Free PMC Article | 01/4/2014 |
| Dbp5, Gle1-IP6 and Nup159: a working model for mRNP export. | Dbp5, Gle1-IP6 and Nup159: a working model for mRNP export.
Folkmann AW, Noble KN, Cole CN, Wente SR., Free PMC Article | 05/26/2012 |
| defective zebrafish GLE1 function in human LCCS1 results in both neurogenic and non-neurogenic defects linked to the apoptosis of proliferative organ precursors | A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization.
Jao LE, Appel B, Wente SR., Free PMC Article | 05/5/2012 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Mutations in mRNA export mediator GLE1 result in fetal motoneuron disease. | Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L., Free PMC Article | 01/21/2010 |
| The unique carboxyl-terminal 43 amino acid region of the hGle1B isoform mediates binding to the C-terminal non-phenylalanine- glycine region of the nucleoporin hCG1/NPL1. | Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA.
Kendirgi F, Rexer DJ, Alcázar-Román AR, Onishko HM, Wente SR., Free PMC Article | 01/21/2010 |