ArticleInvestigative ophthalmology & visual science2014
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Pooled it
- Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.Frontiers in medicine · 2023Pooled it
- Differential expression of transcription factors in moderate and severe Fuchs endothelial corneal dystrophy.Indian journal of ophthalmology · 2026Article
- Posterior Polymorphous Corneal Dystrophy in a Patient with a NovelInternational journal of molecular sciences · 2022Article
- Post-Translational Modification of ZEB Family Members in Cancer Progression.International journal of molecular sciences · 2022Review
- CK2 and the Hallmarks of Cancer.Biomedicines · 2022Review
- Expression and Function of ZEB1 in the Cornea.Cells · 2021Review
- Eyeing the Extracellular Matrix in Vascular Development and Microvascular Diseases and Bridging the Divide between Vascular Mechanics and Function.International journal of molecular sciences · 2020Review
- Ultraviolet A light induces DNA damage and estrogen-DNA adducts in Fuchs endothelial corneal dystrophy causing females to be more affected.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Potential Protective and Therapeutic Roles of the Nrf2 Pathway in Ocular Diseases: An Update.Oxidative medicine and cellular longevity · 2020Review
- The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.Molecular diagnosis & therapy · 2019Review
- Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Investigative ophthalmology & visual science · 2017Article
- Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.PloS one · 2017Article
- Biomechanical relationships between the corneal endothelium and Descemet's membrane.Experimental eye research · 2016Review
- Article
- Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.Investigative ophthalmology & visual science · 2016Article
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.American journal of human genetics · 2016Article
- Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India.Molecular vision · 2015Article
- Phytomonas: trypanosomatids adapted to plant environments.PLoS pathogens · 2015Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous corneal dystrophy 3 (PPCD3) and Fuchs' endothelial corneal dystrophy (FECD).
methodsThirteen of the 27 previously reported ZEB1 truncating mutations associated with PPCD3 and the six previously reported ZEB1 missense mutations associated with FECD were generated and transiently transfected into a corneal endothelial cell line. Protein abundance was determined by immunoblotting, while intracellular localization was determined by fluorescence confocal microscopy.
resultsThree of the 13 ZEB1 truncated mutants, and none of the missense mutants, showed significant decrease in mutant ZEB1 protein levels. Predominant nuclear localization was observed for truncated ZEB1 mutant proteins with a predicted molecular weight of less than 92 kilodaltons. The two largest mutant proteins that lacked a putative nuclear localization signal (NLS), p.(Ser638Cysfs*5) and p.(Gln884Argfs*37), primarily localized to the cytoplasm, while the NLS-containing mutant proteins, p.(Glu997Alafs*7) and p.(Glu1039Glyfs*6), primarily localized to the nucleus. All the missense ZEB1 mutant proteins were exclusively present in the nucleus.
conclusionsZEB1 truncating mutations result in a significant decrease and/or impaired nuclear localization of the encoded protein, indicating that ZEB1 haploinsufficiency in PPCD3 may result from decreased protein production and/or impaired cellular localization. Conversely, as the reported ZEB1 missense mutations do not significantly impact protein abundance or nuclear localization, the effect of these mutations on ZEB1 function and their relationship to FECD, if any, remain to be elucidated.
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