ReviewAdvances in biological regulation2014
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.
Review in Advances in biological regulation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.Cellular and molecular life sciences : CMLS · 2026Review
- In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.The FEBS journal · 2025Article
- The Great Escape: mRNA Export through the Nuclear Pore Complex.International journal of molecular sciences · 2021Review
- Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X.iScience · 2021Article
- Review
- Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation.Nature reviews. Neuroscience · 2021Review
- Mutation Screening of theFrontiers in neuroscience · 2021Article
- The Nuclear Pore Complex and mRNA Export in Cancer.Cancers · 2020Review
- Mechanisms of nuclear mRNA export: A structural perspective.Traffic (Copenhagen, Denmark) · 2019Review
- The Structure of the Nuclear Pore Complex (An Update).Annual review of biochemistry · 2019Review
- Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease.Histochemistry and cell biology · 2018Review
- Identification of the NovelG3 (Bethesda, Md.) · 2018Article
- Structural and functional analysis of mRNA export regulation by the nuclear pore complex.Nature communications · 2018Article
- The importance of managing the patient and not the gene: expanded phenotype ofCold Spring Harbor molecular case studies · 2017Article
- Review
- Article
- An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms.Advances in biological regulation · 2016Article
- Multiple Export Mechanisms for mRNAs.Cells · 2015Review
- Cytoplasmic hGle1A regulates stress granules by modulation of translation.Molecular biology of the cell · 2015Article
- Genetic analysis of the Warburg effect in yeast.Advances in biological regulation · 2015Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
A critical step during gene expression is the directional export of nuclear messenger (m)RNA through nuclear pore complexes (NPCs) to the cytoplasm. During export, Gle1 in conjunction with inositol hexakisphosphate (IP6) spatially regulates the activity of the DEAD-box protein Dbp5 at the NPC cytoplasmic face. GLE1 mutations are causally linked to the human diseases lethal congenital contracture syndrome 1 (LCCS-1) and lethal arthrogryposis with anterior horn cell disease (LAAHD). Here, structure prediction and functional analysis provide strong evidence to suggest that the LCCS-1 and LAAHD disease mutations disrupt the function of Gle1 in mRNA export. Strikingly, direct fluorescence microscopy in living cells reveals a dramatic loss of steady-state NPC localization for GFP-gle1 proteins expressed from human gle1 genes harboring LAAHD and LCCS-1 mutations. The potential significance of these residues is further clarified by analyses of sequence and predicted structural conservation. This work offers insights into the perturbed mechanisms underlying human LCCS-1 and LAAHD disease states and emphasizes the potential impact of altered mRNA transport and gene expression in human disease.
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