ArticleExperimental eye research2013
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.
Article in Experimental eye research, 2013. 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, 38 citations in OpenAlex.
- Systematic review:Frontiers in medicine · 2025Review
- NovelInternational journal of ophthalmology · 2024Article
- JAM-C Is Important for Lens Epithelial Cell Proliferation and Lens Fiber Maturation in Murine Lens Development.Investigative ophthalmology & visual science · 2023Article
- Lens Aquaporin-5 Inserts Into Bovine Fiber Cell Plasma Membranes Via Unconventional Protein Secretion.Investigative ophthalmology & visual science · 2022Article
- A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation.BMC genomics · 2021Article
- The relationship between major intrinsic protein genes and cataract.International ophthalmology · 2021Review
- BFSP1 C-terminal domains released by post-translational processing events can alter significantly the calcium regulation of AQP0 water permeability.Experimental eye research · 2019Article
- A predominant form of C-terminally end-cleaved AQP0 functions as an open water channel and an adhesion protein in AQP0Biochemical and biophysical research communications · 2019Article
- Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.Eye (London, England) · 2018Article
- Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.Orphanet journal of rare diseases · 2018Article
- A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.Experimental animals · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.Scientific reports · 2017Article
- The E368Q Mutant Allele ofOpen access journal of ophthalmology · 2016Article
- MALDI Imaging Mass Spectrometry Spatially Maps Age-Related Deamidation and Truncation of Human Lens Aquaporin-0.Investigative ophthalmology & visual science · 2015Article
- A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.PloS one · 2015Article
- Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.PloS one · 2015Article
- Aquaporins in the eye: expression, function, and roles in ocular disease.Biochimica et biophysica acta · 2014Review
- A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.BMC medical genetics · 2014Article
- A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.PloS one · 2014Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Autosomal dominant congenital cataracts have been associated with mutations of genes encoding several soluble and membrane proteins. By candidate gene screening, we identified a novel mutation in MIP (c.494 G > A) that segregates with a congenital lamellar cataract within a south Indian family and causes the replacement of a highly conserved glycine by aspartate (G165D) within aquaporin0 (AQP0). Unlike wild type AQP0, expression of AQP0-G165D in Xenopus oocytes did not facilitate swelling in hypotonic medium. In transfected HeLa cells, wild type AQP0 localized at the plasma membrane while AQP0-G165D was retained within the secretory pathway, and localized mainly within the endoplasmic reticulum. These results suggest that mutation of this conserved glycine residue leads to improper trafficking of AQP0-G165D and loss of water channel function. They emphasize the importance of AQP0 for maintenance of lens transparency and identify a critical residue that is conserved among aquaporins, but has not previously been associated with disease-associated replacement.
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