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168 related items for PubMed ID: 15253895

  • 1. Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum.
    Buck TM, Eledge J, Skach WR.
    Am J Physiol Cell Physiol; 2004 Nov; 287(5):C1292-9. PubMed ID: 15253895
    [Abstract] [Full Text] [Related]

  • 2. Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus.
    Marr N, Kamsteeg EJ, van Raak M, van Os CH, Deen PM.
    Pflugers Arch; 2001 Apr; 442(1):73-7. PubMed ID: 11374071
    [Abstract] [Full Text] [Related]

  • 3. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
    Tamarappoo BK, Verkman AS.
    J Clin Invest; 1998 May 15; 101(10):2257-67. PubMed ID: 9593782
    [Abstract] [Full Text] [Related]

  • 4. Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus.
    Tamarappoo BK, Yang B, Verkman AS.
    J Biol Chem; 1999 Dec 03; 274(49):34825-31. PubMed ID: 10574954
    [Abstract] [Full Text] [Related]

  • 5. 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.
    Hum Mol Genet; 2004 Dec 15; 13(24):3045-56. PubMed ID: 15509592
    [Abstract] [Full Text] [Related]

  • 6. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
    Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wühl E, Schober E, Rijss JP, Van Os CH, Deen PM.
    J Am Soc Nephrol; 1997 Feb 15; 8(2):242-8. PubMed ID: 9048343
    [Abstract] [Full Text] [Related]

  • 7. 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.
    J Am Soc Nephrol; 2002 Sep 15; 13(9):2267-77. PubMed ID: 12191971
    [Abstract] [Full Text] [Related]

  • 8. The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus.
    Hirano K, Zuber C, Roth J, Ziak M.
    Am J Pathol; 2003 Jul 15; 163(1):111-20. PubMed ID: 12819016
    [Abstract] [Full Text] [Related]

  • 9. Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum.
    Hendriks G, Koudijs M, van Balkom BW, Oorschot V, Klumperman J, Deen PM, van der Sluijs P.
    J Biol Chem; 2004 Jan 23; 279(4):2975-83. PubMed ID: 14593099
    [Abstract] [Full Text] [Related]

  • 10. Diffusion in the endoplasmic reticulum of an aquaporin-2 mutant causing human nephrogenic diabetes insipidus.
    Levin MH, Haggie PM, Vetrivel L, Verkman AS.
    J Biol Chem; 2001 Jun 15; 276(24):21331-6. PubMed ID: 11297561
    [Abstract] [Full Text] [Related]

  • 11. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
    Kamsteeg EJ, Wormhoudt TA, Rijss JP, van Os CH, Deen PM.
    EMBO J; 1999 May 04; 18(9):2394-400. PubMed ID: 10228154
    [Abstract] [Full Text] [Related]

  • 12. Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression.
    Shinbo I, Fushimi K, Kasahara M, Yamauchi K, Sasaki S, Marumo F.
    Am J Physiol; 1999 Nov 04; 277(5):F734-41. PubMed ID: 10564236
    [Abstract] [Full Text] [Related]

  • 13. Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.
    Kamsteeg EJ, Deen PM.
    Am J Physiol Renal Physiol; 2000 Oct 04; 279(4):F778-84. PubMed ID: 10997928
    [Abstract] [Full Text] [Related]

  • 14. New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
    Leduc-Nadeau A, Lussier Y, Arthus MF, Lonergan M, Martinez-Aguayo A, Riveira-Munoz E, Devuyst O, Bissonnette P, Bichet DG.
    J Physiol; 2010 Jun 15; 588(Pt 12):2205-18. PubMed ID: 20403973
    [Abstract] [Full Text] [Related]

  • 15. Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus.
    Yang B, Gillespie A, Carlson EJ, Epstein CJ, Verkman AS.
    J Biol Chem; 2001 Jan 26; 276(4):2775-9. PubMed ID: 11035038
    [Abstract] [Full Text] [Related]

  • 16. Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.
    Saglar Ozer E, Moeller HB, Karaduman T, Fenton RA, Mergen H.
    Cell Mol Life Sci; 2020 Mar 26; 77(5):953-962. PubMed ID: 31302751
    [Abstract] [Full Text] [Related]

  • 17. Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
    Marr N, Bichet DG, Lonergan M, Arthus MF, Jeck N, Seyberth HW, Rosenthal W, van Os CH, Oksche A, Deen PM.
    Hum Mol Genet; 2002 Apr 01; 11(7):779-89. PubMed ID: 11929850
    [Abstract] [Full Text] [Related]

  • 18. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.
    Kuwahara M, Iwai K, Ooeda T, Igarashi T, Ogawa E, Katsushima Y, Shinbo I, Uchida S, Terada Y, Arthus MF, Lonergan M, Fujiwara TM, Bichet DG, Marumo F, Sasaki S.
    Am J Hum Genet; 2001 Oct 01; 69(4):738-48. PubMed ID: 11536078
    [Abstract] [Full Text] [Related]

  • 19. Effects of missense mutations on rat aquaporin-2 in LLC-PK1 porcine kidney cells.
    Yamauchi K, Fushimi K, Yamashita Y, Shinbo I, Sasaki S, Marumo F.
    Kidney Int; 1999 Jul 01; 56(1):164-71. PubMed ID: 10411689
    [Abstract] [Full Text] [Related]

  • 20. cDNA and genomic cloning of mouse aquaporin-2: functional analysis of an orthologous mutant causing nephrogenic diabetes insipidus.
    Yang B, Ma T, Xu Z, Verkman AS.
    Genomics; 1999 Apr 01; 57(1):79-83. PubMed ID: 10191086
    [Abstract] [Full Text] [Related]

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