BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

244 related articles for article (PubMed ID: 9654149)

  • 21. 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]  

  • 22. 24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.
    Orrù S; Thomas G; Loizedda A; Cox DW; Contu L
    Hum Mutat; 1997; 10(1):84-5. PubMed ID: 9222767
    [No Abstract]   [Full Text] [Related]  

  • 23. The toxic milk mouse is a murine model of Wilson disease.
    Theophilos MB; Cox DW; Mercer JF
    Hum Mol Genet; 1996 Oct; 5(10):1619-24. PubMed ID: 8894697
    [TBL] [Abstract][Full Text] [Related]  

  • 24. ATP7B (WND) protein.
    Terada K; Schilsky ML; Miura N; Sugiyama T
    Int J Biochem Cell Biol; 1998 Oct; 30(10):1063-7. PubMed ID: 9785470
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene.
    Wu J; Forbes JR; Chen HS; Cox DW
    Nat Genet; 1994 Aug; 7(4):541-5. PubMed ID: 7951327
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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; 286(18):16355-62. PubMed ID: 21398519
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Haplotype and mutation analysis in Japanese patients with Wilson disease.
    Nanji MS; Nguyen VT; Kawasoe JH; Inui K; Endo F; Nakajima T; Anezaki T; Cox DW
    Am J Hum Genet; 1997 Jun; 60(6):1423-9. PubMed ID: 9199563
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
    Yoo HW
    Genet Med; 2002; 4(6 Suppl):43S-48S. PubMed ID: 12544487
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F.
    Morgan CT; Tsivkovskii R; Kosinsky YA; Efremov RG; Lutsenko S
    J Biol Chem; 2004 Aug; 279(35):36363-71. PubMed ID: 15205462
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Wilson disease].
    Abonyi M; Folhoffer A; Lakatos PL
    Orv Hetil; 2004 Oct; 145(42):2147-51. PubMed ID: 15566072
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 9(1):25-38. PubMed ID: 26747866
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
    Kim EK; Yoo OJ; Song KY; Yoo HW; Choi SY; Cho SW; Hahn SH
    Hum Mutat; 1998; 11(4):275-8. PubMed ID: 9554743
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Physiologic function of the Wilson disease gene product, ATP7B.
    Bingham MJ; Ong TJ; Summer KH; Middleton RB; McArdle HJ
    Am J Clin Nutr; 1998 May; 67(5 Suppl):982S-987S. PubMed ID: 9587140
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae.
    Hung IH; Suzuki M; Yamaguchi Y; Yuan DS; Klausner RD; Gitlin JD
    J Biol Chem; 1997 Aug; 272(34):21461-6. PubMed ID: 9261163
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
    Schushan M; Bhattacharjee A; Ben-Tal N; Lutsenko S
    Metallomics; 2012 Jul; 4(7):669-78. PubMed ID: 22692182
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Reaction cycle of Thermotoga maritima copper ATPase and conformational characterization of catalytically deficient mutants.
    Hatori Y; Lewis D; Toyoshima C; Inesi G
    Biochemistry; 2009 Jun; 48(22):4871-80. PubMed ID: 19364131
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 13.