p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation von Savelkoul, Paul JM, De Mattia, Fabrizio, Li, Yuedan, Kamsteeg, Erik-Jan, Konings, Irene BM, van der Sluijs, Peter, Deen, Peter MT

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Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus von Kamsteeg, Erik-Jan, Stoffels, Monique, Tamma, Grazia, Konings, Irene B.M, Deen, Peter M.T

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Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations von Nelen, M R, Kremer, H, Konings, I B, Schoute, F, van Essen, A J, Koch, R, Woods, C G, Fryns, J P, Hamel, B, Hoefsloot, L H, Peeters, E A, Padberg, G W

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A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L von de Mattia, Fabrizio, Savelkoul, Paul J.M., Bichet, Daniel G., Kamsteeg, Erik-Jan, Konings, Irene B.M., Marr, Nannette, Arthus, Marie-Françoise, Lonergan, Michèle, van Os, Carel H., van der Sluijs, Peter, Robertson, Gary, Deen, Peter M.T.

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Changing S261, including constitutive phosphorylation, enhances AQP2 ubiquitination and internalization von Deen, Peter MT, Tamma, Grazia, Stoffels, Monique, Hoffert, Jason D, Konings, Irene BM, Knepper, Mark A

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Missorting to late endosome/lysosomes due to increased phosphorylation by protein kinase C and mono‐ubiquitination of the Aquaporin‐2 mutant E258K might explain its role in dominan... von Deen, Peter MT, Savelkoul, Paul JM, Kamsteeg, Erik‐Jan, Hendriks, Giel, Konings, Irene BM, van der Sluijs, Peter

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