Article
An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
The EMBO journal - 4 May 1999
Kamsteeg E J, Wormhoudt T A, Rijss J P, van Os C H, Deen P M
Abstract excerpt
Autosomal recessive and dominant nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin, are caused by mutations in the aquaporin-2 (AQP2) gene. Missense AQP2 proteins in recessive NDI have been shown to be retarded in the endoplasmic reticulum, whereas AQP2-E258K, an AQP2 mutant in dominant NDI, was retained in the Golgi complex. In this...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.