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Article

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.

The Journal of cell biology - 8 Dec 2003

Kamsteeg Erik-Jan, Bichet Daniel G, Konings Irene B M, Nivet Hubert, Lonergan Michelle, Arthus Marie-Françoise, van Os Carel H, Deen Peter M T

Abstract excerpt

Vasopressin regulates body water conservation by redistributing aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical surface of renal collecting ducts, resulting in water reabsorption from urine. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease characterized by the inability to concentrate urine. Here, we report a frame-shift mutation in AQP2 causing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14662748
DOI: 10.1083/jcb.200309017
PMCID: PMC2173618

Genes

AQP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.PMID 14662748Read ↗

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Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.Semantic proximity Read ↗

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidusSemantic proximity Read ↗

An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.Semantic proximity Read ↗

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