The Wilson's disease gene and phenotypic diversity

Journal of Hepatology

Volumn 34, Issue 1, 2001, Pages 165-171

  Riordan, Stephen M ^a,b   Williams, Roger ^a  

^a UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^b PRINCE OF WALES HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER; MANGANESE; PENICILLAMINE;

ANIMAL MODEL; CHELATION THERAPY; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; LIVER CELL CARCINOMA; LIVER DISEASE; LIVER TRANSPLANTATION; MENTAL DISEASE; NEUROLOGIC DISEASE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RAT; REVIEW; SCREENING TEST; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CARCINOMA, HEPATOCELLULAR; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CERULOPLASMIN; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER NEOPLASMS; MUTATION; PHENOTYPE;

EID: 0035139204     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(00)00028-3     Document Type: Review

References (88)

1. Wilson disease and Menkes disease: New handles on heavy-metal transport
2. Effects of copper on mammalian cell components
3. Cellular copper transport
4. Wilson diesease in 1998: Genetic, diagnostic and therapeutic aspects
5. Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis
6. Wilson disease and idiopathic copper toxicosis
7. Disorders of copper transport
8. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
9. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
10. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
11. ATP7B (WND) protein
12. The Wilson disease gene: Spectrum of mutations and their consequences
13. Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation and functional analyses
14. Mutation analysis in patients of Mediterranean descent with Wilson disease: Identification of 19 novel mutations
15. Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients
16. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
17. Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect
18. Further delineation of the molecular pathology of Wilson disease in the Mediterranean population
19. Haplotype and mutation analysis in Greek patients with Wilson disease
20. Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction
21. Very high frequency of the His1069Gln mutation in Polish Wilson disease patients
22. H747Q mutation in Wilson disease is associated with late, neurological presentation
23. Efficient detection of mutations in Wilson disease by manifold sequencing
24. Screening for the common mutation His1069Gln in the Wilson's disease gene
25. Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis
26. Role of copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease
27. 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
28. Expression, purification and metal binding properties of the N-terminal domain from the Wilson disease putative copper-transporting ATPase (ATP7B)
29. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene
30. Isolation of a candidate for Menkes disease and evidence that it encodes a copper-transporting ATPase
31. 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
32. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae
33. Two forms of Wilson disease protein produced by alternative splicing are localised in distinct cellular compartments
34. Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver
35. Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases
36. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation
37. Localization of the Wilson's disease protein product to mitochondria
38. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
39. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
40. Immunohistochemical determination of the Wilson copper-transporting P-type ATPase in the brain tissues of the rat
41. Liver transplantation for Wilson's disease: Indications and outcome
42. Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation
43. Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
44. Wilson's disease
45. Wilson's disease presenting with features of hepatic dysfunction: A clinical analysis of eighty-seven patients
46. Wilson's disease and Indian childhood cirrhosis
47. Wilson's disease in Israel: A genetic and epidemiological study
48. Perspectives on Wilson's disease
49. Diagnosis of Wilson's disease: An experience over three decades
50. Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure
51. Diagnosis of Wilson's disease presenting as fulminant hepatic failure
52. Failure of simple biochemical indexes to reliably differentiate fulminant Wilson's disease from other causes of fulminant liver failure
53. Not Wilson's disease: A review of misdiagnosed cases
54. Treatment of hepatic encephalopathy
55. Differentiation between portal-systemic encephalopathy and neurodegenerative disorders in patients with Wilson disease: H-1 MR spectroscopy
56. Manganese and chronic hepatic encephalopathy
57. Hyperintense globus pallidus on T1-weighted MRI in cirrhotic subjects is associated with severity of liver failure
58. Wilson's disease (hepatolenticular degeneration) of late adult onset
59. Late onset of Wilson's disease
60. Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings
61. Wilson's disease in adults with cirrhosis but no neurological abnormalities
62. Late diagnosis of Wilson's disease in a case without onset of symptoms
63. Wilson disease: Asymptomatic or late-onset type
64. The L.E.C. rat: A model for human hepatitis, liver cancer and much more
65. Animal models of copper toxicosis
66. Prevention of spontaneous hepatocellular carcinoma in Long-Evans Cinnamon rats with hereditary hepatitis by the administration of D-Penicillamine
67. A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration)
68. A genetic study of Wilson's disease: Evidence for heterogeneity
69. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
70. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease
71. Genetic heterogeneity in Wilson disease: Lessons from rare alleles
72. An unusual case of Wilson's disease
73. Liver copper storage and trasport during development: Implications for cytotoxicity
74. Differential effects of apolipoprotein E3 and E4 on neuronal growth in vitro
75. Apolipoprotein E. allele-specific antioxidant activity and effects on cytotoxicity by oxidative insults and betaamyloid peptides
76. Wilson's disease. Update of a systemic disorder with protean manifestations
77. Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis
78. Metal ion chaperone function of the soluble Cu(I) receptor Atx1
79. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis
80. Wilson's disease in patients presenting with liver disease: A diagnostic challenge
81. Wilson disease: Clinical presentation, treatment and survival
82. Striking variability of hepatic copper levels in fulminant hepatic failure
83. Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin
84. Detection of the heterozygote carrier of the Wilson's disease gene
85. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
86. DNA markers for the diagnosis of Wilson disease
87. Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis