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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.
de Mattia F, Savelkoul PJ, Bichet DG, Kamsteeg EJ, Konings IB, Marr N, Arthus MF, Lonergan M, van Os CH, van der Sluijs P, Robertson G, Deen PM. de Mattia F, et al. Among authors: savelkoul pj. Hum Mol Genet. 2004 Dec 15;13(24):3045-56. doi: 10.1093/hmg/ddh339. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509592
Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Müller D, Van Os CH, Deen PM. Marr N, et al. Among authors: savelkoul pj. J Am Soc Nephrol. 2002 Sep;13(9):2267-77. doi: 10.1097/01.asn.0000027355.41663.14. J Am Soc Nephrol. 2002. PMID: 12191971
Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.
Kamsteeg EJ, Savelkoul PJ, Hendriks G, Konings IB, Nivillac NM, Lagendijk AK, van der Sluijs P, Deen PM. Kamsteeg EJ, et al. Among authors: savelkoul pj. Pflugers Arch. 2008 Mar;455(6):1041-54. doi: 10.1007/s00424-007-0364-6. Epub 2007 Oct 27. Pflugers Arch. 2008. PMID: 17965877
Polarisation, key to good localisation.
van Beest M, Robben JH, Savelkoul PJ, Hendriks G, Devonald MA, Konings IB, Lagendijk AK, Karet F, Deen PM. van Beest M, et al. Among authors: savelkoul pj. Biochim Biophys Acta. 2006 Aug;1758(8):1126-33. doi: 10.1016/j.bbamem.2006.03.007. Epub 2006 Mar 31. Biochim Biophys Acta. 2006. PMID: 16630534 Free article.
Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD.
Franke B, Hoogman M, Arias Vasquez A, Heister JG, Savelkoul PJ, Naber M, Scheffer H, Kiemeney LA, Kan CC, Kooij JJ, Buitelaar JK. Franke B, et al. Among authors: savelkoul pj. Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1576-9. doi: 10.1002/ajmg.b.30861. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18802924
17 results