Citations for
1ATP7A, ATP7B, CLU
Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
Materia S, Cater MA, Klomp LW, Mercer JF, La Fontaine S.
J Biol Chem 286(12):10073-83. Epub 2011 Jan 17. 2011
2ATP7B, WND
Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin.
Zhang S, Chen S, Li W, Guo X, Zhao P, Xu J, Chen Y, Pan Q, Liu X, Zychlinski D, Lu H, Tortorella MD, Schambach A, Wang Y, Pei D, Esteban MA.
Hum Mol Genet 20(16):3176-87. Epub 2011 May 18. 2011
3ATP7A, ATP7B
Cellular copper distribution: a mechanistic systems biology approach.
Banci L, Bertini I, Cantini F, Ciofi-Baffoni S.
Cell Mol Life Sci ell Mol Life Sci. 2010 Mar 24. [Epub ahead of print]PMID: 20333435 2010
4ATP7A, ATP7B
Mammalian copper-transporting P-type ATPases, ATP7A and ATP7B: emerging roles.
La Fontaine S, Ackland ML, Mercer JF.
Int J Biochem Cell Biol 42(2):206-9. Epub 2009 Nov 13.PMID: 19922814 2010
5ATP7B, WND
Overexpressed ATP7B protects mesenchymal stem cells from toxic copper.
Sauer V, Siaj R, Todorov T, Zibert A, Schmidt HH.
Biochem Biophys Res Commun 395(3):307-11. Epub 2010 Apr 1.PMID: 20362556 2010
6ATP7B, WND
Wilson disease at a single cell level: intracellular copper trafficking activates compartment-specific responses in hepatocytes.
Ralle M, Huster D, Vogt S, Schirrmeister W, Burkhead JL, Capps TR, Gray L, Lai B, Maryon E, Lutsenko S.
J Biol Chem 285(40):30875-83. Epub 2010 Jul 20. 2010
7ATP7B, WND
High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.
Okada T, Shiono Y, Kaneko Y, Miwa K, Hasatani K, Hayashi Y, Mibayashi H, Aoyagi H, Tsuji S, Yoshimitsu M, Hayashi H, Yamagishi M.
Scand J Gastroenterol 45(10):1232-7. 2010
8ATP7B, GLRX
Role of glutaredoxin1 and glutathione in regulating the activity of the copper-transporting P-type ATPases, ATP7A and ATP7B.
Singleton WC, McInnes KT, Cater MA, Winnall WR, McKirdy R, Yu Y, Taylor PE, Ke BX, Richardson DR, Mercer JF, La Fontaine S.
J Biol Chem 285(35):27111-21. Epub 2010 Jun 21. 2010
9ATP7B
NMR characterization of copper-binding domains 4-6 of ATP7B .
Fatemi N, Korzhnev DM, Velyvis A, Sarkar B, Forman-Kay JD.
Biochemistry 49(39):8468-77. Epub 2010 Sep 10. 2010
10ATP7B, COMMD1
Roles of COMM-domain-containing 1 in stability and recruitment of the copper-transporting ATPase in a mouse hepatoma cell line.
Miyayama T, Hiraoka D, Kawaji F, Nakamura E, Suzuki N, Ogra Y.
Biochem J 429(1):53-61. 2010
11ATP7B
Cell-specific trafficking suggests a new role for renal ATP7B in the intracellular copper storage.
Barnes N, Bartee MY, Braiterman L, Gupta A, Ustiyan V, Zuzel V, Kaplan JH, Hubbard AL, Lutsenko S.
Traffic 10(6):767-79. Epub 2009 Feb 18. 2009
12ATP7B, WND
Wilson protein expression, copper excretion and sweat production in sweat glands of Wilson disease patients and controls.
Schaefer M, Schellenberg M, Merle U, Weiss KH, Stremmel W.
BMC Gastroenterol 8:29. 2008
13ATOX1, ATP7B
Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1.
Banci L, Bertini I, Cantini F, Rosenzweig AC, Yatsunyk LA.
Biochemistry 47(28):7423-9. Epub 2008 Jun 18.PMID: 18558714 2008
14ATP7B
Atp7b-/- mice as a model for studies of Wilson's disease.
Lutsenko S.
Biochem Soc Trans 36(Pt 6):1233-8. Review. 2008
15ATP7B, WND
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 401(1):143-53. 2007
16ATP7A, ATP7B
Retinal localization and copper-dependent relocalization of the Wilson and Menkes disease proteins.
Krajacic P, Qian Y, Hahn P, Dentchev T, Lukinova N, Dunaief JL.
Invest Ophthalmol Vis Sci 47(7):3129-34. 2006
17ATP7B
Copper transfer studies between the N-terminal copper binding domains one and four of human Wilson protein.
Bunce J, Achila D, Hetrick E, Lesley L, Huffman DL.
Biochim Biophys Acta 1760(6):907-12. Epub 2006 Mar 3. 2006
18GLRX, ATP7B, ATP7A
Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases.
Lim CM, Cater MA, Mercer JF, La Fontaine S.
Biochem Biophys Res Commun 348(2):428-36. Epub 2006 Jul 24. 2006
19ACTN4, ATP7A, ATP7B, DCTN4
Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.
Lim CM, Cater MA, Mercer JF, La Fontaine S.
J Biol Chem 281(20):14006-14. Epub 2006 Mar 22. 2006
20ATP7B, WND
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
Kumar S, Thapa BR, Kaur G, Prasad R.
Clin Genet 67(5):443-5. No abstract available. 2005
21WND, ATP7B
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
Margarit E, Bach V, Gomez D, Bruguera M, Jara P, Queralt R, Ballesta F.
Clin Genet 68(1):61-8. 2005
22ATP7B, WND
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 86(1-2):277-85. Epub 2005 Jun 20. 2005
23ATP7B, WND
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, Czlonkowska A.
Clin Genet 68(6):524-32. 2005
24ATP7B, RAB7A, NPC1
The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.
Harada M, Kawaguchi T, Kumemura H, Terada K, Ninomiya H, Taniguchi E, Hanada S, Baba S, Maeyama M, Koga H, Ueno T, Furuta K, Suganuma T, Sugiyama T, Sata M.
Am J Pathol 166(2):499-510. 2005
25ATP7A, MNK, ATP7B, WND
The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum.
Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S.
J Biol Chem 280(10):9640-5. Epub 2005 Jan 5. 2005
26MNK, ATP7A, ATP7B, WND
A comparison of the mutation spectra of Menkes disease and Wilson disease.
Hsi G, Cox DW.
Hum Genet 114(2):165-72. Epub 2003 Oct 25. 2004
27ATP7B
Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.
Hsi G, Cullen LM, Moira Glerum D, Cox DW.
Genomics 83(3):473-81. 2004
28ATP7B, WND
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, Papatheodorou A, Manesis E, Nousia-Arvanitakis S, Syriopoulou V, Kanavakis E.
Am J Med Genet A 131A(2):168-73. 2004
29ATP7B, ATOX1
The N-terminal metal-binding site 2 of the Wilson's Disease Protein plays a key role in the transfer of copper from Atox1.
Walker JM, Huster D, Ralle M, Morgan CT, Blackburn NJ, Lutsenko S.
J Biol Chem 279(15):15376-84. Epub 2004 Jan 30. 2004
30ATP7B, WND
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu YH, Kodama H, Du SL, Gu QJ, Sun HJ, Ushijima H.
Clin Genet 64(6):479-84. 2003
31ATP7B
Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human breast carcinoma.
Kanzaki A, Toi M, Neamati N, Miyashita H, Oubu M, Nakayama K, Bando H, Ogawa K, Mutoh M, Mori S, Terada K, Sugiyama T, Fukumoto M, Takebayashi Y.
Jpn J Cancer Res 93(1):70-7. 2002
32ATP7B
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
Forbes JR, Cox DW.
Hum Mol Genet 9(13):1927-35. 2000
33ATP7B, WND
Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples.
Olsson C, Waldenstrom E, Westermark K, Landegre U, Syvanen AC.
Eur J Hum Genet 8(12):933-8. 2000
34ATP7B
Cloning and characterization of the promoter region of the Wilson disease gene.
Oh WJ, et al.
Biochem Biophys Res Commun 259(1):206-11. 1999
35ATP7B, WND
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
Kalinsky H, Funes A, Zeldin A, Pel-Or Y, Korostishevsky M, Gershoni-Baruch R, Farrer LA, Bonne-Tamir B.
Hum Mutat 11(2):145-51. 1998
36ATP7B, WND
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
Kim EK, et al.
Hum Mutat 11 : 275-278. 1998
37ATP7B
Localization of the Wilson's disease protein product to mitochondria.
Lutsenko S, et al.
Proc Natl Acad Sci U S A 95 : 6004-6009. 1998
38ATP7B, WND
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.
Payne AS, et al.
Proc Natl Acad Sci U S A 95 : 10854-10859. 1998
39ATP7B, WND
His1069Gln and six novel Wilson disease mutations : analysis of relevance for early diagnosis and phenotype.
Ha-Hao D, et al.
Eur J Hum Genet 6 : 616-623. 1998
40ATP7B, WND
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
Forbes JR, Cox DW.
Am J Hum Genet 63 : 1663-1674. 1998
41ATP7B, WND
24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.
Orru S, Thomas G, Loizedda A, Cox DW, Contu L.
Hum Mutat 10(1):84-5. 1997
42ATP7B, WND
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, Anneren G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.
Am J Hum Genet 61(2):317-28. 1997
43ATP7B, WND
High frequency of two mutations in codon 778 in exon 8 of the ATP7B genein Taiwanese families with Wilson disease.
Chuang LM, et al.
J Med Genet 33 : 521-523. 1996
44ATP7B, WND
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
Figus A, et al.
Am J Hum Genet 57 : 1318-1324. 1995
45ATP7B, WND
A novel RNA splicing mutation in Japanese patients with Wilson disease.
Shimizu N, et al.
Biochem Biophys Res Commun 217 : 16-20. 1995
46ATP7B, WND
Haplotypes and mutations in Wilson disease.
Thomas GR, et al.
Am J Hum Genet 56 : 1315-1319. 1995
47WND, ATP7B
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase : genomic organization, alternative splicing, and structure/function predictions.
Petrukhin K, et al.
Hum Mol Genet 3 : 1647-1656. 1994
48ATP7B, WND
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the menkes gene.
Bull PC, et al.
Nat Genet 5 : 327-337. 1993
49ATP7B, WND
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
Petrukhin K, et al.
Nat Genet 5 : 338-343. 1993
50WND, ATP7B
The Wilson disease gene is a copper transporting ATPase with homology to the menkes disease gene.
Tanzi RE, et al.
Nat Genet 5 : 344-350. 1993
51ATP7B, WND
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.
Yamaguchi Y, et al.
Biochem Biophys Res Commun 197 : 271-277. 1993