ArticleInternational journal of molecular sciences2018
Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Article in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- Structural and functional characterization of aquaporin 4 from the freshwater gastropod Pomacea canaliculata under temperature stress.Molecular biology reports · 2026Article
- Article
- Structural assessment of OsNIP2;1 highlighted critical residues defining solute specificity and functionality of NIP class aquaporins.Journal of advanced research · 2024Article
- Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.Molecular genetics & genomic medicine · 2024Article
- dbAQP-SNP: a database of missense single-nucleotide polymorphisms in human aquaporins.Database : the journal of biological databases and curation · 2023Article
- Evolutionary Overview of Aquaporin Superfamily.Advances in experimental medicine and biology · 2023Article
- Evolution, function and roles in drug sensitivity of trypanosome aquaglyceroporins.Parasitology · 2021Article
- The regulatory roles of aquaporins in the digestive system.Genes & diseases · 2021Review
- Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus.Frontiers in endocrinology · 2021Article
- NovelFrontiers in endocrinology · 2021Article
- Review
- Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.Cellular and molecular life sciences : CMLS · 2020Article
- Inhibitors of Mammalian Aquaporin Water Channels.International journal of molecular sciences · 2019Review
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aquaporins (AQPs) are among the best structural-characterized membrane proteins, fulfilling the role of allowing water flux across cellular membranes. Thus far, 34 single amino acid polymorphisms have been reported in HUMSAVAR for human aquaporins as disease-related. They affect AQP2, AQP5 and AQP8, where they are associated with nephrogenic diabetes insipidus, keratoderma and colorectal cancer, respectively. For half of these mutations, although they are mostly experimentally characterized in their dysfunctional phenotypes, a structural characterization at a molecular level is still missing. In this work, we focus on such mutations and discuss what the structural defects are that they appear to cause. To achieve this aim, we built a 3D molecular model for each mutant and explored the effect of the mutation on all of their structural features. Based on these analyses, we could collect the structural defects of all the pathogenic mutations (here or previously analysed) under few main categories, that we found to nicely correlate with the experimental phenotypes reported for several of the analysed mutants. Some of the structural analyses we present here provide a rationale for previously experimentally observed phenotypes. Furthermore, our comprehensive overview can be used as a reference frame for the interpretation, on a structural basis, of defective phenotypes of other aquaporin pathogenic mutants.
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