Article
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
The Journal of clinical investigation - 1 Jul 1998
Mulders S M, Bichet D G, Rijss J P, Kamsteeg E J, Arthus M F, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os C H, Deen P M
Abstract excerpt
Mutations in the aquaporin-2 (AQP2) water channel gene cause autosomal recessive nephrogenic diabetes insipidus (NDI). Here we report the first patient with an autosomal dominant form of NDI, which is caused by a G866A transition in the AQP2 gene of one allele, resulting in a E258K substitution in the C-tail of AQP2. To define the molecular cause of NDI in this patient, AQP2-E258K was studied in Xenopus oocytes....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.