ArticleInvestigative ophthalmology & visual science2014
Connexin46fs380 causes progressive cataracts.
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 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Levels and Modifications of Both Lens Fiber Cell Connexins Are Affected in Connexin Mutant Mice.Cells · 2022Article
- Connexin Mutations and Hereditary Diseases.International journal of molecular sciences · 2022Review
- Genome-Wide Estimates of Runs of Homozygosity, Heterozygosity, and Genetic Load in Two Chinese Indigenous Goat Breeds.Frontiers in genetics · 2022Article
- Connexin Mutants Cause Cataracts Through Deposition of Apatite.Frontiers in cell and developmental biology · 2022Article
- Loss of fiber cell communication may contribute to the development of cataracts of many different etiologies.Frontiers in physiology · 2022Review
- Mutations of CX46/CX50 and Cataract Development.Frontiers in molecular biosciences · 2022Review
- Connexin Gap Junctions and Hemichannels in Modulating Lens Redox Homeostasis and Oxidative Stress in Cataractogenesis.Antioxidants (Basel, Switzerland) · 2021Review
- Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?Biomolecules · 2020Article
- Connexin Mutants Compromise the Lens Circulation and Cause Cataracts through Biomineralization.International journal of molecular sciences · 2020Review
- p62/Sequestosome 1 levels increase and phosphorylation is altered in Cx50D47A lenses, but deletion of p62/sequestosome 1 does not improve transparency.Molecular vision · 2020Article
- The Connexin50D47A Mutant Causes Cataracts by Calcium Precipitation.Investigative ophthalmology & visual science · 2019Article
- Disruption of the lens circulation causes calcium accumulation and precipitates in connexin mutant mice.American journal of physiology. Cell physiology · 2018Article
- Physiological and Optical Alterations Precede the Appearance of Cataracts in Cx46fs380 Mice.Investigative ophthalmology & visual science · 2017Article
- Focus on lens connexins.BMC cell biology · 2017Review
- A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family.International journal of ophthalmology · 2017Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
purposeAlthough many connexin46 (Cx46) mutants have been linked to inherited human cataracts, there are no adequate animal models for their study. The current experiments were designed to characterize the consequences of expression of one such mutant, Cx46fs380, in the mouse lens.
methodsMice expressing Cx46fs380 were generated by a knockin strategy. Levels and distribution of specific proteins were analyzed by immunoblotting and immunofluorescence.
resultsDark-field microscopy revealed that lenses of young heterozygous and homozygous Cx46fs380 mice did not have opacities, but they developed anterior nuclear cataracts that became more severe with age. Immunofluorescence and immunoblotting showed that Cx46 was severely reduced in both heterozygous and homozygous Cx46fs380 lenses at 1 month of age, whereas immunoreactive connexin50 (Cx50) was moderately decreased. The reduction in Cx50 became more severe in older lenses. The solubilities of crystallins from young wild-type and fs380 mice were similar, but older fs380 lenses exhibited abnormalities of abundance, solubility, and modification of some crystallins.
conclusionsMajor decreases in connexin levels precede the development of cataracts. These mice represent a useful model for elucidation of the progression of lens abnormalities during cataractogenesis especially as caused by a mutant connexin.
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