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Journal Abstract Search

807 related items for PubMed ID: 19937698

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
    Lovicu M, Dessì V, Lepori MB, Zappu A, Zancan L, Giacchino R, Marazzi MG, Iorio R, Vegnente A, Vajro P, Maggiore G, Marcellini M, Barbera C, Kostic V, Farci AM, Solinas A, Altuntas B, Yuce A, Kocak N, Tsezou A, De Virgiliis S, Cao A, Loudianos G.
    J Gastroenterol; 2006 Jun; 41(6):582-7. PubMed ID: 16868807
    [Abstract] [Full Text] [Related]

  • 23. 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 01; 401(1):143-53. PubMed ID: 16939419
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Wilson disease.
    Harada M.
    Med Electron Microsc; 2002 Jun 06; 35(2):61-6. PubMed ID: 12181646
    [Abstract] [Full Text] [Related]

  • 26. Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
    El-Mougy FA, Sharaf SA, Elsharkawy MM, Mandour IA, El-Essawy RA, Eldin AM, Helmy HM, Soliman DH, Selim LH, Sharafeldin HM, Mogahed EA, El-Karaksy HM.
    Arab J Gastroenterol; 2014 Jun 06; 15(3-4):114-8. PubMed ID: 25465132
    [Abstract] [Full Text] [Related]

  • 27. 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 Jun 06; 31():33-6. PubMed ID: 26004889
    [Abstract] [Full Text] [Related]

  • 28. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
    Vrabelova S, Letocha O, Borsky M, Kozak L.
    Mol Genet Metab; 2005 Jun 06; 86(1-2):277-85. PubMed ID: 15967699
    [Abstract] [Full Text] [Related]

  • 29. ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
    Ljubić H, Kalauz M, Telarović S, Ferenci P, Ostojić R, Noli MC, Lepori MB, Hrstić I, Vuković J, Premužić M, Radić D, Ravić KG, Sertić J, Merkler A, Barišić AA, Loudianos G, Vucelić B.
    Genet Test Mol Biomarkers; 2016 Mar 06; 20(3):112-7. PubMed ID: 26799313
    [Abstract] [Full Text] [Related]

  • 30. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
    Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH.
    Hum Mutat; 2004 Apr 06; 23(4):398. PubMed ID: 15024742
    [Abstract] [Full Text] [Related]

  • 31. Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
    Tomić A, Dobricić V, Novaković I, Svetel M, Pekmezović T, Kresojević N, Potrebić A, Kostić VS.
    Vojnosanit Pregl; 2013 May 06; 70(5):457-62. PubMed ID: 23789284
    [Abstract] [Full Text] [Related]

  • 32. Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein.
    Gupta A, Bhattacharjee A, Dmitriev OY, Nokhrin S, Braiterman L, Hubbard AL, Lutsenko S.
    Proc Natl Acad Sci U S A; 2011 Mar 29; 108(13):5390-5. PubMed ID: 21406592
    [Abstract] [Full Text] [Related]

  • 33. Six novel ATP7B mutations in Thai patients with Wilson disease.
    Panichareon B, Taweechue K, Thongnoppakhun W, Aksornworanart M, Pithukpakorn M, Yenchitsomanus PT, Limwongse C, Limjindaporn T.
    Eur J Med Genet; 2011 Mar 29; 54(2):103-7. PubMed ID: 21034864
    [Abstract] [Full Text] [Related]

  • 34. Activation of liver X receptor/retinoid X receptor pathway ameliorates liver disease in Atp7B(-/-) (Wilson disease) mice.
    Hamilton JP, Koganti L, Muchenditsi A, Pendyala VS, Huso D, Hankin J, Murphy RC, Huster D, Merle U, Mangels C, Yang N, Potter JJ, Mezey E, Lutsenko S.
    Hepatology; 2016 Jun 29; 63(6):1828-41. PubMed ID: 26679751
    [Abstract] [Full Text] [Related]

  • 35. 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 29; 9(1):25-38. PubMed ID: 26747866
    [Abstract] [Full Text] [Related]

  • 36. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
    Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.
    Clin Genet; 2005 Dec 29; 68(6):524-32. PubMed ID: 16283883
    [Abstract] [Full Text] [Related]

  • 37. From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia.
    Krumina A, Keiss J, Sondore V, Chernushenko A, Cernevska G, Zarina A, Micule I, Piekuse L, Kreile M, Lace B, Krumina Z, Rozentale B.
    Genetika; 2008 Oct 29; 44(10):1379-84. PubMed ID: 19062534
    [Abstract] [Full Text] [Related]

  • 38.
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  • 39. Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
    Li K, Zhang WM, Lin S, Wen L, Wang ZF, Xie D, Wei M, Qiu ZQ, Dai Y, Lin MC, Kung HF, Yao FX.
    J Hum Genet; 2013 Feb 29; 58(2):67-72. PubMed ID: 23235335
    [Abstract] [Full Text] [Related]

  • 40. Common mutations of ATP7B in Wilson disease patients from Hungary.
    Firneisz G, Lakatos PL, Szalay F, Polli C, Glant TT, Ferenci P.
    Am J Med Genet; 2002 Feb 15; 108(1):23-8. PubMed ID: 11857545
    [Abstract] [Full Text] [Related]

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