These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

257 related articles for article (PubMed ID: 32778786)

  • 1. 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(1):13487. PubMed ID: 32778786
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson disease.
    Das S; Mohammed A; Mandal T; Maji S; Verma J; Ruturaj ; Gupta A
    Hum Mutat; 2022 Oct; 43(10):1408-1429. PubMed ID: 35762218
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 111(14):E1364-73. PubMed ID: 24706876
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.
    Chesi G; Hegde RN; Iacobacci S; Concilli M; Parashuraman S; Festa BP; Polishchuk EV; Di Tullio G; Carissimo A; Montefusco S; Canetti D; Monti M; Amoresano A; Pucci P; van de Sluis B; Lutsenko S; Luini A; Polishchuk RS
    Hepatology; 2016 Jun; 63(6):1842-59. PubMed ID: 26660341
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 287(43):36041-50. PubMed ID: 22898812
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 108(13):5390-5. PubMed ID: 21406592
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
    Mukherjee S; Dutta S; Majumdar S; Biswas T; Jaiswal P; Sengupta M; Bhattacharya A; Gangopadhyay PK; Bavdekar A; Das SK; Ray K
    Parkinsonism Relat Disord; 2014 Jan; 20(1):75-81. PubMed ID: 24094725
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
    Aggarwal A; Chandhok G; Todorov T; Parekh S; Tilve S; Zibert A; Bhatt M; Schmidt HH
    Ann Hum Genet; 2013 Jul; 77(4):299-307. PubMed ID: 23551039
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A Novel Mutation of
    Kahraman CY; Islek A; Tatar A; Özdemir Ö; Mardinglu A; Turkez H
    Medicina (Kaunas); 2021 Jan; 57(2):. PubMed ID: 33573009
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Progress in molecular mechanism of hepatolenticular degeneration induced by ATP7B gene mutation].
    Jia SY; Zhou DH; Ou XJ; Huang J
    Zhonghua Gan Zang Bing Za Zhi; 2020 Feb; 28(2):188-192. PubMed ID: 32164076
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 301(1):G69-81. PubMed ID: 21454443
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
    Li M; Ma J; Wang W; Yang X; Luo K
    BMC Gastroenterol; 2021 Sep; 21(1):339. PubMed ID: 34470610
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 20(3):112-7. PubMed ID: 26799313
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.
    Ariöz C; Li Y; Wittung-Stafshede P
    Biometals; 2017 Dec; 30(6):823-840. PubMed ID: 29063292
    [TBL] [Abstract][Full Text] [Related]  

  • 19. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
    Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
    Mov Disord; 2006 Feb; 21(2):245-8. PubMed ID: 16211609
    [TBL] [Abstract][Full Text] [Related]  

  • 20. In-silico analysis of novel p.(Gly14Ser) variant of ATOX1 gene: plausible role in modulating ATOX1-ATP7B interaction.
    Kumari N; Kumar A; Pal A; Thapa BR; Modi M; Prasad R
    Mol Biol Rep; 2019 Jun; 46(3):3307-3313. PubMed ID: 30980273
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.