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484 related items for PubMed ID: 22240481

  • 1. Diverse functional properties of Wilson disease ATP7B variants.
    Huster D, Kühne A, Bhattacharjee A, Raines L, Jantsch V, Noe J, Schirrmeister W, Sommerer I, Sabri O, Berr F, Mössner J, Stieger B, Caca K, Lutsenko S.
    Gastroenterology; 2012 Apr; 142(4):947-956.e5. PubMed ID: 22240481
    [Abstract] [Full Text] [Related]

  • 2. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
    Hsi G, Cullen LM, Macintyre G, Chen MM, Glerum DM, Cox DW.
    Hum Mutat; 2008 Apr; 29(4):491-501. PubMed ID: 18203200
    [Abstract] [Full Text] [Related]

  • 3. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Forbes JR, Cox DW.
    Am J Hum Genet; 1998 Dec; 63(6):1663-74. PubMed ID: 9837819
    [Abstract] [Full Text] [Related]

  • 4. Copper transporting P-type ATPases and human disease.
    Cox DW, Moore SD.
    J Bioenerg Biomembr; 2002 Oct; 34(5):333-8. PubMed ID: 12539960
    [Abstract] [Full Text] [Related]

  • 5. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
    de Bie P, van de Sluis B, Burstein E, van de Berghe PV, Muller P, Berger R, Gitlin JD, Wijmenga C, Klomp LW.
    Gastroenterology; 2007 Oct; 133(4):1316-26. PubMed ID: 17919502
    [Abstract] [Full Text] [Related]

  • 6. Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
    Wan L, Tsai CH, Hsu CM, Huang CC, Yang CC, Liao CC, Wu CC, Hsu YA, Lee CC, Liu SC, Lin WD, Tsai FJ.
    Hepatology; 2010 Nov; 52(5):1662-70. PubMed ID: 20931554
    [Abstract] [Full Text] [Related]

  • 7. Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.
    Dmitriev OY, Bhattacharjee A, Nokhrin S, Uhlemann EM, Lutsenko S.
    J Biol Chem; 2011 May 06; 286(18):16355-62. PubMed ID: 21398519
    [Abstract] [Full Text] [Related]

  • 8. Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
    Braiterman LT, Murthy A, Jayakanthan S, Nyasae L, Tzeng E, Gromadzka G, Woolf TB, Lutsenko S, Hubbard AL.
    Proc Natl Acad Sci U S A; 2014 Apr 08; 111(14):E1364-73. PubMed ID: 24706876
    [Abstract] [Full Text] [Related]

  • 9. Molecular events initiating exit of a copper-transporting ATPase ATP7B from the trans-Golgi network.
    Hasan NM, Gupta A, Polishchuk E, Yu CH, Polishchuk R, Dmitriev OY, Lutsenko S.
    J Biol Chem; 2012 Oct 19; 287(43):36041-50. PubMed ID: 22898812
    [Abstract] [Full Text] [Related]

  • 10. Wilson disease.
    Harada M.
    Med Electron Microsc; 2002 Jun 19; 35(2):61-6. PubMed ID: 12181646
    [Abstract] [Full Text] [Related]

  • 11. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
    Forbes JR, Cox DW.
    Hum Mol Genet; 2000 Aug 12; 9(13):1927-35. PubMed ID: 10942420
    [Abstract] [Full Text] [Related]

  • 12. Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.
    Braiterman L, Nyasae L, Leves F, Hubbard AL.
    Am J Physiol Gastrointest Liver Physiol; 2011 Jul 12; 301(1):G69-81. PubMed ID: 21454443
    [Abstract] [Full Text] [Related]

  • 13. Structural and functional insights of Wilson disease copper-transporting ATPase.
    Fatemi N, Sarkar B.
    J Bioenerg Biomembr; 2002 Oct 12; 34(5):339-49. PubMed ID: 12539961
    [Abstract] [Full Text] [Related]

  • 14. Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B.
    Braiterman L, Nyasae L, Guo Y, Bustos R, Lutsenko S, Hubbard A.
    Am J Physiol Gastrointest Liver Physiol; 2009 Feb 12; 296(2):G433-44. PubMed ID: 19033537
    [Abstract] [Full Text] [Related]

  • 15. Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
    Roy S, McCann CJ, Ralle M, Ray K, Ray J, Lutsenko S, Jayakanthan S.
    Sci Rep; 2020 Aug 10; 10(1):13487. PubMed ID: 32778786
    [Abstract] [Full Text] [Related]

  • 16. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.
    Huster D, Hoppert M, Lutsenko S, Zinke J, Lehmann C, Mössner J, Berr F, Caca K.
    Gastroenterology; 2003 Feb 10; 124(2):335-45. PubMed ID: 12557139
    [Abstract] [Full Text] [Related]

  • 17. Copper does not alter the intracellular distribution of ATP7B, a copper-transporting ATPase.
    Harada M, Sakisaka S, Kawaguchi T, Kimura R, Taniguchi E, Koga H, Hanada S, Baba S, Furuta K, Kumashiro R, Sugiyama T, Sata M.
    Biochem Biophys Res Commun; 2000 Sep 07; 275(3):871-6. PubMed ID: 10973814
    [Abstract] [Full Text] [Related]

  • 18. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
    Fieten H, Gill Y, Martin AJ, Concilli M, Dirksen K, van Steenbeek FG, Spee B, van den Ingh TS, Martens EC, Festa P, Chesi G, van de Sluis B, Houwen RH, Watson AL, Aulchenko YS, Hodgkinson VL, Zhu S, Petris MJ, Polishchuk RS, Leegwater PA, Rothuizen J.
    Dis Model Mech; 2016 Jan 07; 9(1):25-38. PubMed ID: 26747866
    [Abstract] [Full Text] [Related]

  • 19. Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
    Chandhok G, Horvath J, Aggarwal A, Bhatt M, Zibert A, Schmidt HH.
    World J Gastroenterol; 2016 Apr 28; 22(16):4109-19. PubMed ID: 27122662
    [Abstract] [Full Text] [Related]

  • 20. Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
    Materia S, Cater MA, Klomp LW, Mercer JF, La Fontaine S.
    J Biol Chem; 2011 Mar 25; 286(12):10073-83. PubMed ID: 21242307
    [Abstract] [Full Text] [Related]

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