Diverse functional properties of wilson disease ATP7B variants

Gastroenterology

Volumn 142, Issue 4, 2012, Pages

  Huster, Dominik ^a,b,c   Khne, Angelika ^a   Bhattacharjee, Ashima ^d   Raines, Lily ^d   Jantsch, Vanessa ^a   Noe, Johannes ^e   Schirrmeister, Wiebke ^a,b   Sommerer, Ines ^a   Sabri, Osama ^a   Berr, Frieder ^a,f   Mssner, Joachim ^a   Stieger, Bruno ^e   Caca, Karel ^a,g   Lutsenko, Svetlana ^d  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b OTTO VON GUERICKE UNIVERSITY   (Germany)

^c Deaconess Hospital Leipzig   (Germany)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^f PARACELSUS MEDICAL UNIVERSITY   (Austria)

^g KLINIKUM LUDWIGSBURG   (Germany)

Author keywords

Genetic Analysis; Golgi; Liver Disease; P Type ATPase

Indexed keywords

COPPER 64; WILSON DISEASE PROTEIN;

ANIMAL CELL; ARTICLE; BACULOVIRUS EXPRESSION SYSTEM; GENE EXPRESSION; GENE FUNCTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; NONHUMAN; PRIORITY JOURNAL; WILSON DISEASE;

EID: 84859397498     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2011.12.048     Document Type: Article

References (32)

1. R.F. Pfeiffer Wilson's disease Semin Neurol 27 2007 123 132
2. D. Huster Wilson disease Best Pract Res Clin Gastroenterol 24 2010 531 539
3. S.M. Riordan, R. Williams The Wilson's disease gene and phenotypic diversity J Hepatol 34 2001 165 171
4. M.T. Lorincz Neurologic Wilson's disease Ann N Y Acad Sci 1184 2010 173 187
5. K.M. Kegley, M.A. Sellers, M.J. Ferber Fulminant Wilson's disease requiring liver transplantation in one monozygotic twin despite identical genetic mutation Am J Transplant 10 2010 1325 1329
6. A. Czlonkowska, G. Gromadzka, G. Chabik Monozygotic female twins discordant for phenotype of Wilson's disease Mov Disord 24 2009 1066 1069
7. K. Caca, P. Ferenci, H.J. Kuhn High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis J Hepatol 35 2001 575 581
8. J.M. Stapelbroek, C.W. Bollen, J.K. van Amstel The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis J Hepatol 41 2004 758 763
9. P. Ferenci, A. Czlonkowska, U. Merle Late-onset Wilson's disease Gastroenterology 132 2007 1294 1298
10. S.M. Kenney, D.W. Cox Sequence variation database for the Wilson disease copper transporter, ATP7B Hum Mutat 28 2007 1171 1177
11. R. Tsivkovskii, T. Purnat, S. Lutsenko Copper-transporting ATPases: key regulators of intracellular copper concentration M. Futai, Y. Wada, J. Kaplan, Handbook of ATPases 2004 Wiley-VCH Verlag GmbH & Co Weinheim 99 158
12. J.R. Forbes, D.W. Cox Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? Am J Hum Genet 63 1998 1663 1674
13. G. Hsi, L.M. Cullen, G. Macintyre Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system Hum Mutat 29 2008 491 501
14. L.M. Luoma, T.M. Deeb, G. Macintyre Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B Hum Mutat 31 2010 569 577
15. D. Huster, M. Hoppert, S. Lutsenko Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines Gastroenterology 124 2003 335 345
16. A.S. Payne, E.J. Kelly, J.D. Gitlin Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation Proc Natl Acad Sci U S A 95 1998 10854 10859
17. P.V. van den Berghe, J.M. Stapelbroek, E. Krieger Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin Hepatology 50 2009 1783 1795
18. R. Tsivkovskii, J.F. Eisses, J.H. Kaplan Functional properties of the copper-transporting ATPase ATP7B (the Wilson's disease protein) expressed in insect cells J Biol Chem 277 2002 976 983
19. D. Huster, S. Lutsenko The distinct roles of the N-terminal copper-binding sites in regulation of catalytic activity of the Wilson's disease protein J Biol Chem 278 2003 32212 32218
20. O.J. Lowry, N.J. Rosebrough, A.L. Farr Protein measurement with the Folin phenol reagent J Biol Chem 193 1951 265 275
21. U.K. Laemmli Cleavage of structural proteins during the assembly of the head of bacteriophage T4 Nature 227 1970 680 685
22. N.J. Kruger The Bradford method for protein quantitation Methods Mol Biol 32 1994 9 15
23. P. Gmaj, M. Zurini, H. Murer A high-affinity, calmodulin-dependent Ca2+ pump in the basal-lateral plasma membranes of kidney cortex Eur J Biochem 136 1983 71 76
24. O. Dmitriev, R. Tsivkovskii, F. Abildgaard Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations Proc Natl Acad Sci USA 103 2006 5302 5307
25. L. Banci, I. Bertini, F. Cantini Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1 Biochemistry 47 2008 7423 7429
26. L. Banci, I. Bertini, F. Cantini Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins Biochemistry 48 2009 7849 7855
27. M.H. Sazinsky, S. Agarwal, J.M. Arguello Structure of the actuator domain from the Archaeoglobus fulgidus Cu(+)-ATPase Biochemistry 45 2006 9949 9955
28. M.H. Sazinsky, A.K. Mandal, J.M. Arguello Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase J Biol Chem 281 2006 11161 11166
29. H.W. Yoo Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease Genet Med 4 Suppl 2002 43S 48S
30. A. Gupta, A. Bhattacharjee, O. Dmitriev Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein Proc Natl Acad Sci U S A 108 2011 5390 5395
31. M. Iida, K. Terada, Y. Sambongi Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae FEBS Lett 428 1998 281 285
32. R. Tsivkovskii, B.C. MacArthur, S. Lutsenko The Lys1010-Lys1325 fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent manner J Biol Chem 276 2001 2234 2242