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• W1458736145 abstract "Several point mutations have been identified in human aquaporins, but their effects on the function of the respective aquaporins are mostly enigmatic. We analyzed the impact of the aquaporin 2 mutation V71M, which causes nephrogenic diabetes insipidus in humans, on aquaporin structure and activity, using the bacterial aquaglyceroporin GlpF as a model. Importantly, the sequence and structure around the V71M mutation is highly conserved between aquaporin 2 and GlpF. The V71M mutation neither impairs substrate flux nor oligomerization of the aquaglyceroporin. Therefore, the human aquaporin 2 mutant V71M is most likely active, but cellular trafficking is probably impaired." @default.
• W1458736145 created "2016-06-24" @default.
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• W1458736145 date "2015-01-01" @default.
• W1458736145 modified "2023-10-14" @default.
• W1458736145 title "The AQP2 mutation V71M causes<i>nephrogenic diabetes insipidus</i> in humans but does not impair the function of a bacterial homolog" @default.
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• W1458736145 doi "https://doi.org/10.1016/j.fob.2015.07.003" @default.
• W1458736145 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4552806" @default.
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