BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

498 related articles for article (PubMed ID: 9837819)

  • 1. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae.
    Iida M; Terada K; Sambongi Y; Wakabayashi T; Miura N; Koyama K; Futai M; Sugiyama T
    FEBS Lett; 1998 May; 428(3):281-5. PubMed ID: 9654149
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model.
    Papur OS; Terzioglu O; Koc A
    J Trace Elem Med Biol; 2015; 31():33-6. PubMed ID: 26004889
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease.
    Forbes JR; Hsi G; Cox DW
    J Biol Chem; 1999 Apr; 274(18):12408-13. PubMed ID: 10212214
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Purification and functional reconstitution of the human Wilson copper ATPase, ATP7B.
    Portmann R; Solioz M
    FEBS Lett; 2005 Jul; 579(17):3589-95. PubMed ID: 15963506
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.
    Hsi G; Cullen LM; Moira Glerum D; Cox DW
    Genomics; 2004 Mar; 83(3):473-81. PubMed ID: 14962673
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. Copper transport and its defect in Wilson disease: characterization of the copper-binding domain of Wilson disease ATPase.
    Sarkar B
    J Inorg Biochem; 2000 Apr; 79(1-4):187-91. PubMed ID: 10830865
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
    van den Berghe PV; Stapelbroek JM; Krieger E; de Bie P; van de Graaf SF; de Groot RE; van Beurden E; Spijker E; Houwen RH; Berger R; Klomp LW
    Hepatology; 2009 Dec; 50(6):1783-95. PubMed ID: 19937698
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Copper binding to the N-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B).
    Cater MA; La Fontaine S; Mercer JF
    Biochem J; 2007 Jan; 401(1):143-53. PubMed ID: 16939419
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Structure-function analysis of purified Enterococcus hirae CopB copper ATPase: effect of Menkes/Wilson disease mutation homologues.
    Bissig KD; Wunderli-Ye H; Duda PW; Solioz M
    Biochem J; 2001 Jul; 357(Pt 1):217-23. PubMed ID: 11415452
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
    Davies LP; Macintyre G; Cox DW
    Genet Test; 2008 Mar; 12(1):139-45. PubMed ID: 18373411
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.
    La Fontaine S; Theophilos MB; Firth SD; Gould R; Parton RG; Mercer JF
    Hum Mol Genet; 2001 Feb; 10(4):361-70. PubMed ID: 11157799
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
    Buiakova OI; Xu J; Lutsenko S; Zeitlin S; Das K; Das S; Ross BM; Mekios C; Scheinberg IH; Gilliam TC
    Hum Mol Genet; 1999 Sep; 8(9):1665-71. PubMed ID: 10441329
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
    Shah AB; Chernov I; Zhang HT; Ross BM; Das K; Lutsenko S; Parano E; Pavone L; Evgrafov O; Ivanova-Smolenskaya IA; Annerén G; Westermark K; Urrutia FH; Penchaszadeh GK; Sternlieb I; Scheinberg IH; Gilliam TC; Petrukhin K
    Am J Hum Genet; 1997 Aug; 61(2):317-28. PubMed ID: 9311736
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.