Home LiteratureArticle Details
PMID: 17717039 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Journal of medical genetics ·Vol. 44 ·No. 11 ·2007-11-00 ·Pages 673-88

de Bie P, Muller P, Wijmenga C, Klomp LW

Abstract

The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper deficiency (Menkes disease) or copper overload (Wilson disease), respectively. ATP7A and ATP7B exert their functions in copper transport through a variety of interdependent mechanisms and regulatory events, including their catalytic ATPase activity, copper-induced trafficking, post-translational modifications and protein-protein interactions. This paper reviews the extensive efforts that have been undertaken over the past few years to dissect and characterise these mechanisms, and how these are affected in Menkes and Wilson disease. As both disorders are characterised by an extensive clinical heterogeneity, we will discus how the underlying genetic defects correlate with the molecular functions of ATP7A and ATP7B and with the clinical expression of these disorders.

MeSH Terms
Adenosine Triphosphatases/chemistry,genetics,physiology Adenosine Triphosphate/metabolism Animals Cation Transport Proteins/chemistry,genetics,physiology Copper/metabolism Copper-Transporting ATPases Disease Models, Animal Female Genotype Hepatolenticular Degeneration/genetics,metabolism Humans Male Menkes Kinky Hair Syndrome/genetics,metabolism Mice Mice, Mutant Strains Mutation, Missense Phenotype Protein Interaction Mapping Protein Structure, Tertiary Rats Rats, Inbred LEC Structure-Activity Relationship Zebrafish
Chemicals
Cation Transport Proteins Copper Adenosine Triphosphate Adenosine Triphosphatases ATP7A protein, human ATP7B protein, human Copper-Transporting ATPases
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
de Bie P
Laboratory of Metabolic and Endocrine Diseases, Room KC.02.069.1, Lundlaan 6, 3584 EA Utrecht, The Netherlands.
Muller P
Wijmenga C
Klomp L W J
References (255)
255 references, click to expand
  1. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Am J Hum Genet. 1998 Dec;63(6):1663-74 PMID: 9837819
  2. The regulation of catalytic activity of the menkes copper-translocating P-type ATPase. Role of high affinity copper-binding sites.
    J Biol Chem. 2001 Jul 27;276(30):28620-7 PMID: 11373292
  3. CopZ from Bacillus subtilis interacts in vivo with a copper exporting CPx-type ATPase CopA.
    FEMS Microbiol Lett. 2003 Mar 14;220(1):105-12 PMID: 12644235
  4. Imaging of the intracellular topography of copper with a fluorescent sensor and by synchrotron x-ray fluorescence microscopy.
    Proc Natl Acad Sci U S A. 2005 Aug 9;102(32):11179-84 PMID: 16061820
  5. Identification of Murr1 as a regulator of the human delta epithelial sodium channel.
    J Biol Chem. 2004 Feb 13;279(7):5429-34 PMID: 14645214
  6. Essential role for Atox1 in the copper-mediated intracellular trafficking of the Menkes ATPase.
    Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1215-20 PMID: 12538877
  7. Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.
    J Biol Chem. 2006 May 19;281(20):14006-14 PMID: 16554302
  8. Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane.
    J Cell Sci. 1999 Jun;112 ( Pt 11):1721-32 PMID: 10318764
  9. Metal ion chaperone function of the soluble Cu(I) receptor Atx1.
    Science. 1997 Oct 31;278(5339):853-6 PMID: 9346482
  10. Restriction of copper export in Saccharomyces cerevisiae to a late Golgi or post-Golgi compartment in the secretory pathway.
    J Biol Chem. 1997 Oct 10;272(41):25787-93 PMID: 9325307
  11. Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse.
    Nat Genet. 1997 Jul;16(3):224-5 PMID: 9207785
  12. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.
    Am J Hum Genet. 2006 Aug;79(2):214-29 PMID: 16826513
  13. Cu(I) binding and transfer by the N terminus of the Wilson disease protein.
    J Biol Chem. 2007 Mar 23;282(12):8622-31 PMID: 17229731
  14. A novel role for the immunophilin FKBP52 in copper transport.
    J Biol Chem. 2004 Jul 2;279(27):27845-8 PMID: 15133031
  15. Localization of the Wilson's disease protein in human liver.
    Gastroenterology. 1999 Dec;117(6):1380-5 PMID: 10579979
  16. Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.
    Hum Mol Genet. 1999 Mar;8(3):501-7 PMID: 9949209
  17. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.
    Gastroenterology. 2003 Feb;124(2):335-45 PMID: 12557139
  18. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.
    Brain. 2009 Aug;132(Pt 8):1997-2001 PMID: 19634211
  19. Interaction of the CopZ copper chaperone with the CopA copper ATPase of Enterococcus hirae assessed by surface plasmon resonance.
    Biochem Biophys Res Commun. 2001 Oct 19;288(1):172-7 PMID: 11594769
  20. Structure-function analyses of the ATX1 metallochaperone.
    J Biol Chem. 1999 May 21;274(21):15041-5 PMID: 10329707
  21. The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake.
    Proc Natl Acad Sci U S A. 1995 Mar 28;92(7):2632-6 PMID: 7708696
  22. ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion.
    Gastroenterology. 2006 Feb;130(2):493-506 PMID: 16472602
  23. Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?
    Clin Genet. 2006 Apr;69(4):363-6 PMID: 16630173
  24. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
    Am J Hum Genet. 1997 Aug;61(2):317-28 PMID: 9311736
  25. A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.
    J Biol Chem. 2002 Nov 15;277(46):44079-84 PMID: 12221109
  26. Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase.
    Science. 1999 Apr 30;284(5415):805-8 PMID: 10221913
  27. Studies on endocytic mechanisms of the Menkes copper-translocating P-type ATPase (ATP7A; MNK). Endocytosis of the Menkes protein.
    Biometals. 2004 Feb;17(1):87-98 PMID: 14977365
  28. The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis.
    Proc Natl Acad Sci U S A. 2001 Jun 5;98(12):6848-52 PMID: 11391006
  29. Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene.
    Gene. 2000 Oct 17;257(1):13-22 PMID: 11054564
  30. The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes.
    Nature. 2003 Dec 18;426(6968):853-7 PMID: 14685242
  31. Solution structures of the reduced and Cu(I) bound forms of the first metal binding sequence of ATP7A associated with Menkes disease.
    Proteins. 2005 Dec 1;61(4):1038-49 PMID: 16211579
  32. Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity.
    J Biol Chem. 2002 Aug 2;277(31):27953-9 PMID: 12029094
  33. A Golgi localization signal identified in the Menkes recombinant protein.
    Hum Mol Genet. 1998 Aug;7(8):1245-52 PMID: 9668166
  34. Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization.
    Hum Mol Genet. 1999 Aug;8(8):1473-8 PMID: 10400994
  35. The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.
    Hum Mol Genet. 1999 Oct;8(11):2107-15 PMID: 10484781
  36. Functional studies on the Wilson copper P-type ATPase and toxic milk mouse mutant.
    Biochem Biophys Res Commun. 2001 Mar 9;281(4):966-70 PMID: 11237756
  37. The mild form of Menkes disease: progress report on the original case.
    Am J Med Genet. 1988 Jul;30(3):859-64 PMID: 3189408
  38. Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease.
    Hum Mol Genet. 1997 Jul;6(7):1037-42 PMID: 9215672
  39. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
    World J Gastroenterol. 2004 Feb 15;10(4):590-3 PMID: 14966923
  40. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.
    Biochem Biophys Res Commun. 1993 Nov 30;197(1):271-7 PMID: 8250934
  41. Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.
    J Med Genet. 2007 Oct;44(10):641-6 PMID: 17483305
  42. Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
    J Hum Genet. 2000;45(2):86-91 PMID: 10721669
  43. The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.
    Hum Mol Genet. 1997 Mar;6(3):425-33 PMID: 9147646
  44. Role of copper in Indian childhood cirrhosis.
    Am J Clin Nutr. 1998 May;67(5 Suppl):1074S-1081S PMID: 9587155
  45. Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat.
    Biochem J. 1994 Jul 1;301 ( Pt 1):1-4 PMID: 8037655
  46. A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
    Am J Hum Genet. 1997 Jul;61(1):233-8 PMID: 9246006
  47. Wilson disease and idiopathic copper toxicosis.
    Am J Clin Nutr. 1996 May;63(5):842S-5S PMID: 8615372
  48. The Wilson's disease protein expressed in Sf9 cells is phosphorylated.
    Biochem Soc Trans. 2002 Aug;30(4):739-41 PMID: 12196182
  49. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
    Nat Genet. 1993 Dec;5(4):338-43 PMID: 8298640
  50. Characterization of the binding interface between the copper chaperone Atx1 and the first cytosolic domain of Ccc2 ATPase.
    J Biol Chem. 2001 Nov 2;276(44):41365-76 PMID: 11500502
  51. Role of ATP7B in biliary copper excretion in a human hepatoma cell line and normal rat hepatocytes.
    Gastroenterology. 2000 May;118(5):921-8 PMID: 10784591
  52. Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease.
    Arch Neurol. 2006 Jul;63(7):982-5 PMID: 16831968
  53. COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology.
    Clin Genet. 2005 Dec;68(6):548-51 PMID: 16283886
  54. Protein kinase-dependent phosphorylation of the Menkes copper P-type ATPase.
    Biochem Biophys Res Commun. 2003 Mar 28;303(1):337-42 PMID: 12646208
  55. Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis.
    J Biol Chem. 1997 Apr 4;272(14):9221-6 PMID: 9083055
  56. The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.
    J Hepatol. 2003 Feb;38(2):164-8 PMID: 12547404
  57. Copper-dependent protein-protein interactions studied by yeast two-hybrid analysis.
    Biochem Biophys Res Commun. 2004 Oct 22;323(3):789-95 PMID: 15381069
  58. Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease.
    Eur J Hum Genet. 1998 Nov-Dec;6(6):624-8 PMID: 9887382
  59. Initial therapy of patients with Wilson's disease with tetrathiomolybdate.
    Arch Neurol. 1991 Jan;48(1):42-7 PMID: 1986725
  60. Wilson's disease.
    Lancet. 2007 Feb 3;369(9559):397-408 PMID: 17276780
  61. Modifier genetics: cystic fibrosis.
    Annu Rev Genomics Hum Genet. 2005;6:237-60 PMID: 16124861
  62. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
    J Mol Med (Berl). 2006 May;84(5):438-42 PMID: 16649058
  63. Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
    Hum Mutat. 2005 Aug;26(2):84-93 PMID: 15981243
  64. Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells.
    J Biol Chem. 1999 Jul 30;274(31):22008-12 PMID: 10419525
  65. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
    J Med Genet. 2007 Aug;44(8):492-7 PMID: 17496194
  66. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.
    Am J Hum Genet. 1995 Mar;56(3):570-6 PMID: 7887410
  67. Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver.
    Am J Physiol. 1999 Mar;276(3 Pt 1):G639-46 PMID: 10070040
  68. The molecular basis of copper-transport diseases.
    Trends Mol Med. 2001 Feb;7(2):64-9 PMID: 11286757
  69. Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.
    Pediatr Res. 1997 Oct;42(4):436-42 PMID: 9380433
  70. Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes.
    J Clin Invest. 1995 Jan;95(1):412-6 PMID: 7814642
  71. HAH1 is a copper-binding protein with distinct amino acid residues mediating copper homeostasis and antioxidant defense.
    J Biol Chem. 1998 Jan 16;273(3):1749-54 PMID: 9430722
  72. Copper-induced trafficking of the cU-ATPases: a key mechanism for copper homeostasis.
    Biometals. 2003 Mar;16(1):175-84 PMID: 12572677
  73. Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase.
    J Biol Chem. 1996 Jun 14;271(24):14504-9 PMID: 8662933
  74. Supplying copper to the cuproenzyme peptidylglycine alpha-amidating monooxygenase.
    J Biol Chem. 2003 Apr 4;278(14):12278-84 PMID: 12529325
  75. How resting T cells deMURR HIV infection.
    Nat Immunol. 2004 Jan;5(1):18-9 PMID: 14699403
  76. Biochemical characterization and intracellular localization of the Menkes disease protein.
    Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):14030-5 PMID: 8943055
  77. A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.
    Mamm Genome. 1997 Jun;8(6):407-10 PMID: 9166584
  78. Identification of an ATP-dependent copper transport system in endoplasmic reticulum vesicles isolated from rat liver.
    J Physiol. 1995 Feb 1;482 ( Pt 3):583-7 PMID: 7738849
  79. Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases.
    Biochem Biophys Res Commun. 2006 Sep 22;348(2):428-36 PMID: 16884690
  80. Metallochaperones and metal-transporting ATPases: a comparative analysis of sequences and structures.
    Genome Res. 2002 Feb;12(2):255-71 PMID: 11827945
  81. Copper transfer to the N-terminal domain of the Wilson disease protein (ATP7B): X-ray absorption spectroscopy of reconstituted and chaperone-loaded metal binding domains and their interaction with exogenous ligands.
    J Inorg Biochem. 2004 May;98(5):765-74 PMID: 15134922
  82. Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.
    Hum Mol Genet. 2001 Feb 15;10(4):361-70 PMID: 11157799
  83. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.
    J Biol Chem. 2003 Oct 24;278(43):41593-6 PMID: 12968035
  84. His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
    Eur J Hum Genet. 1998 Nov-Dec;6(6):616-23 PMID: 9887381
  85. Functional properties of the copper-transporting ATPase ATP7B (the Wilson's disease protein) expressed in insect cells.
    J Biol Chem. 2002 Jan 11;277(2):976-83 PMID: 11677246
  86. COMMD proteins, a novel family of structural and functional homologs of MURR1.
    J Biol Chem. 2005 Jun 10;280(23):22222-32 PMID: 15799966
  87. An NMR study of the interaction between the human copper(I) chaperone and the second and fifth metal-binding domains of the Menkes protein.
    FEBS J. 2005 Feb;272(3):865-71 PMID: 15670166
  88. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
    Nat Genet. 1993 Jan;3(1):14-9 PMID: 8490646
  89. The Wilson disease gene: spectrum of mutations and their consequences.
    Nat Genet. 1995 Feb;9(2):210-7 PMID: 7626145
  90. Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux.
    Hum Mol Genet. 1995 Nov;4(11):2117-23 PMID: 8589689
  91. Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites.
    Biochem J. 2004 Jun 15;380(Pt 3):805-13 PMID: 14998371
  92. Very high frequency of the His1069Gln mutation in Polish Wilson disease patients.
    J Neurol. 1997 Sep;244(9):591-2 PMID: 9352458
  93. Copper-histidine therapy for Menkes disease.
    J Pediatr. 1993 Nov;123(5):828-30 PMID: 8229500
  94. Oxidative mechanisms in the toxicity of metal ions.
    Free Radic Biol Med. 1995 Feb;18(2):321-36 PMID: 7744317
  95. Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome.
    J Inherit Metab Dis. 1989;12(4):386-9 PMID: 2560098
  96. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
    Am J Med Genet. 2001 Mar 15;99(3):217-22 PMID: 11241493
  97. Copper(I) interaction with model peptides of WD6 and TM6 domains of Wilson ATPase: regulatory and mechanistic implications.
    J Inorg Biochem. 2004 Sep;98(9):1483-94 PMID: 15337600
  98. Menkes' kinky-hair syndrome.
    Lancet. 1972 May 20;1(7760):1100-2 PMID: 4112576
  99. Understanding copper trafficking in bacteria: interaction between the copper transport protein CopZ and the N-terminal domain of the copper ATPase CopA from Bacillus subtilis.
    Biochemistry. 2003 Feb 25;42(7):1939-49 PMID: 12590580
  100. CPx-type ATPases: a class of P-type ATPases that pump heavy metals.
    Trends Biochem Sci. 1996 Jul;21(7):237-41 PMID: 8755241
  101. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene.
    Nat Genet. 1994 Aug;7(4):541-5 PMID: 7951327
  102. Evaluation of haplotypes associated with copper toxicosis in Bedlington Terriers in Australia.
    Am J Vet Res. 2004 Nov;65(11):1573-9 PMID: 15566097
  103. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.
    Hum Mol Genet. 1997 Mar;6(3):417-23 PMID: 9147645
  104. Metabolic and molecular bases of Menkes disease and occipital horn syndrome.
    Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98 PMID: 10463276
  105. Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations.
    Biochem J. 2004 Aug 15;382(Pt 1):293-305 PMID: 15147237
  106. The canine copper toxicosis locus is not syntenic with ATP7B or ATX1 and maps to a region showing homology to human 2p21.
    Mamm Genome. 1999 Jul;10(7):753-6 PMID: 10384054
  107. Localization of the Wilson's disease protein product to mitochondria.
    Proc Natl Acad Sci U S A. 1998 May 26;95(11):6004-9 PMID: 9600907
  108. Menkes Copper ATPase (Atp7a) is a novel metal-responsive gene in rat duodenum, and immunoreactive protein is present on brush-border and basolateral membrane domains.
    J Biol Chem. 2005 Oct 28;280(43):36221-7 PMID: 16081413
  109. The toxic milk mouse is a murine model of Wilson disease.
    Hum Mol Genet. 1996 Oct;5(10):1619-24 PMID: 8894697
  110. The mottled gene is the mouse homologue of the Menkes disease gene.
    Nat Genet. 1994 Apr;6(4):369-73 PMID: 8054976
  111. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
    Clin Genet. 2003 Dec;64(6):479-84 PMID: 14986826
  112. Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p.
    J Biol Chem. 1999 Oct 1;274(40):28497-504 PMID: 10497213
  113. Role of copper in the proteosome-mediated degradation of the multicopper oxidase hephaestin.
    J Biol Chem. 2004 Jun 11;279(24):25696-702 PMID: 15087449
  114. A comparison of the mutation spectra of Menkes disease and Wilson disease.
    Hum Genet. 2004 Jan;114(2):165-72 PMID: 14579150
  115. The N-terminal metal-binding site 2 of the Wilson's Disease Protein plays a key role in the transfer of copper from Atox1.
    J Biol Chem. 2004 Apr 9;279(15):15376-84 PMID: 14754885
  116. The many faces of the copper metabolism protein MURR1/COMMD1.
    J Hered. 2005;96(7):803-11 PMID: 16267171
  117. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
    Am J Med Genet A. 2004 Dec 1;131(2):168-73 PMID: 15523622
  118. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
    Mov Disord. 2006 Feb;21(2):245-8 PMID: 16211609
  119. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis.
    Proc Natl Acad Sci U S A. 1999 Nov 9;96(23):13363-8 PMID: 10557326
  120. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
    Mol Genet Metab. 2005 Sep-Oct;86(1-2):277-85 PMID: 15967699
  121. Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
    Nat Genet. 1994 Apr;6(4):374-8 PMID: 8054977
  122. Atp7a determines a hierarchy of copper metabolism essential for notochord development.
    Cell Metab. 2006 Aug;4(2):155-62 PMID: 16890543
  123. The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
    J Gastroenterol. 2006 Jun;41(6):582-7 PMID: 16868807
  124. A new hepatocytic isoform of PLZF lacking the BTB domain interacts with ATP7B, the Wilson disease protein, and positively regulates ERK signal transduction.
    J Cell Biochem. 2006 Oct 15;99(3):719-34 PMID: 16676348
  125. Animal models of Menkes disease.
    Adv Exp Med Biol. 1999;448:97-108 PMID: 10079818
  126. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
    J Hepatol. 2004 Nov;41(5):758-63 PMID: 15519648
  127. A fraction of yeast Cu,Zn-superoxide dismutase and its metallochaperone, CCS, localize to the intermembrane space of mitochondria. A physiological role for SOD1 in guarding against mitochondrial oxidative damage.
    J Biol Chem. 2001 Oct 12;276(41):38084-9 PMID: 11500508
  128. Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).
    Hum Mol Genet. 1998 Aug;7(8):1293-300 PMID: 9668172
  129. Copper modulates the degradation of copper chaperone for Cu,Zn superoxide dismutase by the 26 S proteosome.
    J Biol Chem. 2003 Sep 12;278(37):35071-8 PMID: 12832419
  130. Functional copper transport explains neurologic sparing in occipital horn syndrome.
    Genet Med. 2006 Nov;8(11):711-8 PMID: 17108763
  131. Purification and membrane reconstitution of catalytically active Menkes copper-transporting P-type ATPase (MNK; ATP7A).
    Biochem J. 2007 Jan 15;401(2):569-79 PMID: 17009961
  132. A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.
    Gastroenterology. 2001 Mar;120(4):967-74 PMID: 11231950
  133. Idiopathic copper toxicosis.
    Am J Clin Nutr. 1998 May;67(5 Suppl):1082S-1086S PMID: 9587156
  134. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
    Am J Hum Genet. 2000 Apr;66(4):1211-20 PMID: 10739752
  135. 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. 2001 Nov;35(5):575-81 PMID: 11690702
  136. Function and regulation of the mammalian copper-transporting ATPases: insights from biochemical and cell biological approaches.
    J Membr Biol. 2003 Jan 1;191(1):1-12 PMID: 12532272
  137. 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).
    Biochem J. 2007 Jan 1;401(1):143-53 PMID: 16939419
  138. Correction of a mouse model of Menkes disease by the human Menkes gene.
    Biochim Biophys Acta. 2006 Apr;1762(4):485-93 PMID: 16488577
  139. Organization of P-type ATPases: significance of structural diversity.
    Biochemistry. 1995 Dec 5;34(48):15607-13 PMID: 7495787
  140. 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.
    J Biol Chem. 2004 Aug 27;279(35):36363-71 PMID: 15205462
  141. Prion protein gene codon 129 modulates clinical course of neurological Wilson disease.
    Neuroreport. 2006 Apr 3;17(5):549-52 PMID: 16543824
  142. Solution structure and backbone dynamics of the Cu(I) and apo forms of the second metal-binding domain of the Menkes protein ATP7A.
    Biochemistry. 2004 Mar 30;43(12):3396-403 PMID: 15035611
  143. Increased activity of hypoxia-inducible factor 1 is associated with early embryonic lethality in Commd1 null mice.
    Mol Cell Biol. 2007 Jun;27(11):4142-56 PMID: 17371845
  144. Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
    Am J Med Genet. 1996 Oct 2;65(1):44-51 PMID: 8914740
  145. A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
    J Med Genet. 2003 Apr;40(4):290-5 PMID: 12676902
  146. Kinetic analysis of the interaction of the copper chaperone Atox1 with the metal binding sites of the Menkes protein.
    J Biol Chem. 2003 Jun 6;278(23):20821-7 PMID: 12679332
  147. Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cells.
    Am J Physiol Cell Physiol. 2004 Nov;287(5):C1463-71 PMID: 15269005
  148. Cell culture studies of Menkes kinky hair disease.
    Clin Chim Acta. 1978 Sep 15;88(3):495-507 PMID: 699339
  149. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
    Hum Genet. 2006 Sep;120(2):151-9 PMID: 16791614
  150. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
    Genet Med. 2002 Nov-Dec;4(6 Suppl):43S-48S PMID: 12544487
  151. Wilson disease.
    Gastroenterology. 2003 Dec;125(6):1868-77 PMID: 14724838
  152. Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate.
    J Biol Chem. 2002 Nov 29;277(48):46736-42 PMID: 12228238
  153. Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion.
    Gastroenterology. 2000 Sep;119(3):782-93 PMID: 10982773
  154. Dynactin.
    Annu Rev Cell Dev Biol. 2004;20:759-79 PMID: 15473859
  155. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
    Gastroenterology. 2007 Oct;133(4):1316-26 PMID: 17919502
  156. A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis.
    J Biol Chem. 2005 Sep 30;280(39):33270-9 PMID: 16051599
  157. ERAD: the long road to destruction.
    Nat Cell Biol. 2005 Aug;7(8):766-72 PMID: 16056268
  158. Modifier genes in mice and humans.
    Nat Rev Genet. 2001 Mar;2(3):165-74 PMID: 11256068
  159. A selective turn-on fluorescent sensor for imaging copper in living cells.
    J Am Chem Soc. 2006 Jan 11;128(1):10-1 PMID: 16390096
  160. Strategies for identifying modifier genes in cystic fibrosis.
    Proc Am Thorac Soc. 2007 Jan;4(1):52-7 PMID: 17202292
  161. Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction.
    Ann Intern Med. 1997 Jul 1;127(1):21-6 PMID: 9214248
  162. Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters.
    Hum Mol Genet. 1997 Jul;6(7):1043-9 PMID: 9215673
  163. Copper-replacement treatment for symptomatic Menkes disease: ethical considerations.
    Clin Genet. 2005 Sep;68(3):278-83 PMID: 16098018
  164. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
    Hum Mol Genet. 2000 Aug 12;9(13):1927-35 PMID: 10942420
  165. N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat.
    J Biol Chem. 1997 Jul 25;272(30):18939-44 PMID: 9228074
  166. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
    Arch Neurol. 2001 Jun;58(6):971-6 PMID: 11405812
  167. The copper export pump ATP7B modulates the cellular pharmacology of carboplatin in ovarian carcinoma cells.
    Mol Pharmacol. 2003 Aug;64(2):466-73 PMID: 12869652
  168. Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations.
    Proc Natl Acad Sci U S A. 2006 Apr 4;103(14):5302-7 PMID: 16567646
  169. The Menkes copper transporter is required for the activation of tyrosinase.
    Hum Mol Genet. 2000 Nov 22;9(19):2845-51 PMID: 11092760
  170. NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells.
    Am J Physiol Gastrointest Liver Physiol. 2005 Nov;289(5):G904-16 PMID: 15994426
  171. 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. 1998 Sep 1;95(18):10854-9 PMID: 9724794
  172. Identification of a new copper metabolism gene by positional cloning in a purebred dog population.
    Hum Mol Genet. 2002 Jan 15;11(2):165-73 PMID: 11809725
  173. A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis.
    J Inherit Metab Dis. 2005;28(4):473-8 PMID: 15902550
  174. ATP-dependent copper transport by the Menkes protein in membrane vesicles isolated from cultured Chinese hamster ovary cells.
    FEBS Lett. 1998 Sep 18;435(2-3):178-82 PMID: 9762903
  175. Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients.
    Arch Neurol. 1994 Jun;51(6):545-54 PMID: 8198464
  176. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
    Nat Genet. 1993 Dec;5(4):344-50 PMID: 8298641
  177. Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment.
    Hum Genet. 1997 Mar;99(3):329-33 PMID: 9050918
  178. Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder.
    Lancet. 1996 Mar 30;347(9005):877-80 PMID: 8622397
  179. The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.
    Am J Pathol. 2005 Feb;166(2):499-510 PMID: 15681833
  180. Efficient detection of mutations in Wilson disease by manifold sequencing.
    Genomics. 1996 Nov 1;37(3):303-9 PMID: 8938442
  181. Menkes disease: underlying genetic defect and new diagnostic possibilities.
    J Inherit Metab Dis. 1998 Aug;21(5):604-12 PMID: 9728340
  182. Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake.
    Biochem J. 2007 Oct 1;407(1):49-59 PMID: 17617060
  183. Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
    Hum Mol Genet. 1999 Sep;8(9):1665-71 PMID: 10441329
  184. Alteration of copper physiology in mice overexpressing the human Menkes protein ATP7A.
    Am J Physiol Regul Integr Comp Physiol. 2006 May;290(5):R1460-7 PMID: 16397091
  185. Responsible gene for hepatitis of the LEC rat (hts) is the homolog of the human Wilson's disease (WD) gene.
    Transplant Proc. 1995 Apr;27(2):1545 PMID: 7725405
  186. Molecular diagnosis of Wilson disease.
    Mol Genet Metab. 2001 Mar;72(3):223-30 PMID: 11243728
  187. Frequency of His1069Gln and Gly1267Lys mutations in Polish Wilson's disease population.
    Eur J Neurol. 2000 Sep;7(5):495-8 PMID: 11054133
  188. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
    Nat Genet. 1994 Oct;8(2):195-202 PMID: 7842019
  189. Familial clustering of infantile cirrhosis in Northern Germany: A clue to the etiology of idiopathic copper toxicosis.
    J Pediatr. 1999 Aug;135(2 Pt 1):189-96 PMID: 10431113
  190. A role for the Saccharomyces cerevisiae ATX1 gene in copper trafficking and iron transport.
    J Biol Chem. 1997 Apr 4;272(14):9215-20 PMID: 9083054
  191. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease).
    Science. 1952 Oct 31;116(3018):484-5 PMID: 12994898
  192. COMMD1 promotes the ubiquitination of NF-kappaB subunits through a cullin-containing ubiquitin ligase.
    EMBO J. 2007 Jan 24;26(2):436-47 PMID: 17183367
  193. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease.
    Brain. 2000 Mar;123 Pt 3:585-90 PMID: 10686180
  194. Dynamics of endogenous ATP7A (Menkes protein) in intestinal epithelial cells: copper-dependent redistribution between two intracellular sites.
    Am J Physiol Gastrointest Liver Physiol. 2007 Apr;292(4):G1181-94 PMID: 17158254
  195. Animal models of copper-associated liver disease.
    Comp Hepatol. 2003 Apr 3;2(1):5 PMID: 12769823
  196. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis.
    Am J Clin Nutr. 1998 May;67(5 Suppl):972S-977S PMID: 9587138
  197. Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase.
    J Biol Chem. 2001 Sep 28;276(39):36289-94 PMID: 11470780
  198. Copper exposure induces trafficking of the menkes protein in intestinal epithelium of ATP7A transgenic mice.
    J Nutr. 2005 Dec;135(12):2762-6 PMID: 16317117
  199. The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway.
    Hum Mol Genet. 2003 Jul 1;12(13):1523-33 PMID: 12812980
  200. The distinct roles of the N-terminal copper-binding sites in regulation of catalytic activity of the Wilson's disease protein.
    J Biol Chem. 2003 Aug 22;278(34):32212-8 PMID: 12794172
  201. H714Q mutation in Wilson disease is associated with late, neurological presentation.
    J Med Genet. 1995 Jun;32(6):480-2 PMID: 7666402
  202. The role of GMXCXXC metal binding sites in the copper-induced redistribution of the Menkes protein.
    J Biol Chem. 1999 Apr 16;274(16):11170-7 PMID: 10196202
  203. Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome.
    Biochem J. 1980 Nov 15;192(2):579-86 PMID: 6112984
  204. New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis.
    Mamm Genome. 2003 Jul;14(7):483-91 PMID: 12925897
  205. Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae.
    FEBS Lett. 1998 May 29;428(3):281-5 PMID: 9654149
  206. Mutation spectrum of ATP7A, the gene defective in Menkes disease.
    Adv Exp Med Biol. 1999;448:83-95 PMID: 10079817
  207. Molecular regulation of copper excretion in the liver.
    Proc Nutr Soc. 2004 Feb;63(1):31-9 PMID: 15099406
  208. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
    Nat Genet. 1993 Jan;3(1):7-13 PMID: 8490659
  209. Structure and metal binding studies of the second copper binding domain of the Menkes ATPase.
    J Struct Biol. 2003 Sep;143(3):209-18 PMID: 14572476
  210. Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation.
    Biochem J. 2000 Dec 1;352 Pt 2:565-71 PMID: 11085952
  211. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.
    Hum Mol Genet. 1994 Sep;3(9):1647-56 PMID: 7833924
  212. A human protein-protein interaction network: a resource for annotating the proteome.
    Cell. 2005 Sep 23;122(6):957-68 PMID: 16169070
  213. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency.
    Am J Clin Nutr. 1998 May;67(5 Suppl):1029S-1034S PMID: 9587147
  214. Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.
    EMBO J. 1996 Nov 15;15(22):6084-95 PMID: 8947031
  215. Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.
    Genomics. 1994 Jul 1;22(1):27-35 PMID: 7959788
  216. Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L.
    Brain Dev. 2005 Dec;27(8):551-3 PMID: 16310588
  217. A novel role for XIAP in copper homeostasis through regulation of MURR1.
    EMBO J. 2004 Jan 14;23(1):244-54 PMID: 14685266
  218. The rat homologue of the Wilson's disease gene was partially deleted at the 3' end of its protein-coding region in Long-Evans Cinnamon mutant rats.
    Res Commun Mol Pathol Pharmacol. 1995 Sep;89(3):421-4 PMID: 8680810
  219. A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network.
    Hum Mol Genet. 1998 Dec;7(13):2063-71 PMID: 9817923
  220. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.
    Hum Mol Genet. 1999 Aug;8(8):1547-55 PMID: 10401004
  221. 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.
    Clin Genet. 2005 Dec;68(6):524-32 PMID: 16283883
  222. Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.
    J Biol Chem. 1998 Nov 20;273(47):31375-80 PMID: 9813047
  223. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
    Hum Mutat. 2000;15(5):454-62 PMID: 10790207
  224. Solution structure and intermolecular interactions of the third metal-binding domain of ATP7A, the Menkes disease protein.
    J Biol Chem. 2006 Sep 29;281(39):29141-7 PMID: 16873374
  225. Menkes syndrome and animal models.
    Am J Clin Nutr. 1998 May;67(5 Suppl):1022S-1028S PMID: 9587146
  226. Deletion of the Wilson's disease gene in hereditary hepatitis LEC rats.
    Jpn J Genet. 1995 Feb;70(1):25-33 PMID: 7772379
  227. A mild form of Menkes steely hair syndrome.
    J Pediatr. 1981 Jan;98(1):97-9 PMID: 7452417
  228. Expression, purification, and metal binding properties of the N-terminal domain from the wilson disease putative copper-transporting ATPase (ATP7B).
    J Biol Chem. 1997 Dec 26;272(52):33279-82 PMID: 9407118
  229. Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress.
    FASEB J. 2006 Feb;20(2):334-6 PMID: 16371425
  230. Common mutations of ATP7B in Wilson disease patients from Hungary.
    Am J Med Genet. 2002 Feb 15;108(1):23-8 PMID: 11857545
  231. Wilson's disease; new oral therapy.
    Lancet. 1956 Jan 7;270(6906):25-6 PMID: 13279157
  232. The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis.
    J Hepatol. 2003 Nov;39(5):703-9 PMID: 14568250
  233. The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.
    J Med Genet. 1999 Feb;36(2):174 PMID: 10051024
  234. The Wilson's disease gene and phenotypic diversity.
    J Hepatol. 2001 Jan;34(1):165-71 PMID: 11211896
  235. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
    Genet Test. 2003 Summer;7(2):107-12 PMID: 12885331
  236. Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease.
    Genomics. 2006 Feb;87(2):191-9 PMID: 16338116
  237. Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease.
    J Biol Chem. 1999 Apr 30;274(18):12408-13 PMID: 10212214
  238. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.
    Hum Mol Genet. 1998 Mar;7(3):465-9 PMID: 9467005
  239. Ratiometric fluorescent sensor proteins with subnanomolar affinity for Zn(II) based on copper chaperone domains.
    J Am Chem Soc. 2006 Aug 23;128(33):10754-62 PMID: 16910670
  240. hCTR1: a human gene for copper uptake identified by complementation in yeast.
    Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7481-6 PMID: 9207117
  241. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients.
    J Mol Med (Berl). 2004 Sep;82(9):629-34 PMID: 15205742
  242. Biology, structure and mechanism of P-type ATPases.
    Nat Rev Mol Cell Biol. 2004 Apr;5(4):282-95 PMID: 15071553
  243. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.
    Pediatrics. 1962 May;29:764-79 PMID: 14472668
  244. Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers.
    Anim Genet. 2005 Dec;36(6):497-501 PMID: 16293123
  245. The copper chaperone for superoxide dismutase.
    J Biol Chem. 1997 Sep 19;272(38):23469-72 PMID: 9295278
  246. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
    Nat Genet. 1993 Dec;5(4):327-37 PMID: 8298639
  247. Incidence of Menkes disease.
    Hum Genet. 1991 Feb;86(4):408-10 PMID: 1999344
  248. Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases.
    J Biol Chem. 1998 Feb 6;273(6):3765-70 PMID: 9452509
  249. Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels.
    World J Gastroenterol. 2006 Apr 14;12(14):2239-42 PMID: 16610028
  250. 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. 2001 Jan 19;276(3):2234-42 PMID: 11053407
  251. Investigation of the copper binding sites in the Menkes disease protein, ATP7A. SSIEM Award. Society of the Study of Inborn Errors of Metabolism.
    J Inherit Metab Dis. 1998 Jun;21(3):195-8 PMID: 9686355
  252. Isolation of a partial candidate gene for Menkes disease by positional cloning.
    Nat Genet. 1993 Jan;3(1):20-5 PMID: 8490647
  253. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae.
    J Biol Chem. 1997 Aug 22;272(34):21461-6 PMID: 9261163
  254. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.
    Cell. 1990 Nov 16;63(4):827-34 PMID: 1699669
  255. Characterization of COMMD protein-protein interactions in NF-kappaB signalling.
    Biochem J. 2006 Aug 15;398(1):63-71 PMID: 16573520
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
1468-6244
DOI
10.1136/jmg.2007.052746
Published
2007-11-00
Epub
2007-00-23
Pages
673-88
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC2752173
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.2007.052746 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2