Article
Analysis of the V2 Vasopressin Receptor (V2R) Mutations Causing Partial Nephrogenic Diabetes Insipidus Highlights a Sustainable Signaling by a Non-peptide V2R Agonist.
The Journal of biological chemistry - 21 Oct 2016
Makita Noriko, Sato Tomohiko, Yajima-Shoji Yuki, Sato Junichiro, Manaka Katsunori, Eda-Hashimoto Makiko, Ootaki Masanori, Matsumoto Naoki, Nangaku Masaomi, Iiri Taroh
Abstract excerpt
Disease-causing mutations in G protein-coupled receptor (GPCR) genes, including the V2 vasopressin receptor (V2R) gene, often cause misfolded receptors, leading to a defect in plasma membrane trafficking. A novel V2R mutation, T273M, identified in a boy with partial nephrogenic diabetes insipidus (NDI), shows intracellular localization and partial defects similar to the two mutants we described previously (10)....
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