An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

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 endopl...

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Veröffentlicht in:The EMBO journal 1999-05, Vol.18 (9), p.2394-2400
Hauptverfasser: Kamsteeg, Erik-Jan, Wormhoudt, Thera A.M., Rijss, Johan P.L., van Os, Carel H., Deen, Peter M.T.
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Sprache:eng
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