-
1
-
-
0019817450
-
The essential trace elements
-
Mertz M. The essential trace elements. Science 1981; 213: 1332-6
-
(1981)
Science
, vol.213
, pp. 1332-1336
-
-
Mertz, M.1
-
2
-
-
0028923703
-
Genes of the copper pathway
-
Cox DW. Genes of the copper pathway. Am J Hum Genet 1995; 56: 828-34
-
(1995)
Am J Hum Genet
, vol.56
, pp. 828-834
-
-
Cox, D.W.1
-
4
-
-
0000386450
-
Disorders of copper transport
-
Scriver CR, Beaudet AL, Sly WS, Valle D (Eds) New York: McGraw-Hill
-
Danks DM. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D (Eds) The Molecular and Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1995: 4125-58
-
(1995)
The Molecular and Metabolic Basis of Inherited Disease
, pp. 4125-4158
-
-
Danks, D.M.1
-
5
-
-
0025126555
-
Role of free radicals and catalytic metal ions in human disease: An overview
-
Halliwell B, Gutteridge JM. Role of free radicals and catalytic metal ions in human disease: an overview. Methods Enzymol 1990; 186: 1-85
-
(1990)
Methods Enzymol
, vol.186
, pp. 1-85
-
-
Halliwell, B.1
Gutteridge, J.M.2
-
6
-
-
0027446365
-
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
-
erratum in Nat Genet 1993; 3: 273
-
Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase [erratum in Nat Genet 1993; 3: 273]. Nat Genet 1993; 3: 7-13
-
(1993)
Nat Genet
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
-
7
-
-
0027500142
-
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
-
Chelly J, Turner Z, Tonnesen T et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993; 3: 14-19
-
(1993)
Nat Genet
, vol.3
, pp. 14-19
-
-
Chelly, J.1
Turner, Z.2
Tonnesen, T.3
-
8
-
-
0027475976
-
Isolation of a partial candidate gene for Menkes disease by positional cloning
-
Mercer JF, Livingston J, Hall B et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 1993; 3: 20-25
-
(1993)
Nat Genet
, vol.3
, pp. 20-25
-
-
Mercer, J.F.1
Livingston, J.2
Hall, B.3
-
9
-
-
0027288228
-
Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae
-
Odermatt A, Suter H, Krapf R, Solioz M. Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae. J Biol Chem 1993; 268: 12775-9
-
(1993)
J Biol Chem
, vol.268
, pp. 12775-12779
-
-
Odermatt, A.1
Suter, H.2
Krapf, R.3
Solioz, M.4
-
10
-
-
0342372868
-
Assignment of the gene for Wilson disease to chromosome 13: Linkage to the esterase D locus
-
Frydman M, Bonne-Tamir B, Farrer LA et al. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci USA 1985; 82: 1819-21
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 1819-1821
-
-
Frydman, M.1
Bonne-Tamir, B.2
Farrer, L.A.3
-
11
-
-
0026056330
-
A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5.1 centimorgans
-
Bowcock AM, Farrer LA, Hebert JM, Bale AE, Cavalli-Sforza LL. A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5.1 centimorgans. Genomics 1991; 11: 517-29
-
(1991)
Genomics
, vol.11
, pp. 517-529
-
-
Bowcock, A.M.1
Farrer, L.A.2
Hebert, J.M.3
Bale, A.E.4
Cavalli-Sforza, L.L.5
-
12
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
erratum in Nat Genet 1994; 6: 214
-
Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene [erratum in Nat Genet 1994; 6: 214]. Nat Genet 1993; 5: 327-37
-
(1993)
Nat Genet
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
13
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi RE, Petrukhin KE, Chernov I et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5: 344-50
-
(1993)
Nat Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.E.2
Chernov, I.3
-
14
-
-
0028916909
-
The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake
-
Yuan DS, Stearman R, Dancis A et al. The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake. Proc Natl Acad Sci USA 1995; 92: 2632-6
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 2632-2636
-
-
Yuan, D.S.1
Stearman, R.2
Dancis, A.3
-
15
-
-
0030671295
-
Delivering copper inside yeast and human cells
-
Valentine JS, Gralla EB. Delivering copper inside yeast and human cells. Science 1997; 278: 817-8
-
(1997)
Science
, vol.278
, pp. 817-818
-
-
Valentine, J.S.1
Gralla, E.B.2
-
16
-
-
0032909207
-
Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
-
Vulpe CD, Kuo YM, Murphy TL et al. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat Genet 1999; 21: 195-9
-
(1999)
Nat Genet
, vol.21
, pp. 195-199
-
-
Vulpe, C.D.1
Kuo, Y.M.2
Murphy, T.L.3
-
17
-
-
0028090209
-
Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus
-
Logan JI, Harveyson KB, Wisdom GB, Hughes AE, Atchbold GPR. Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. Quart J Med 1994; 87: 663-70
-
(1994)
Quart J Med
, vol.87
, pp. 663-670
-
-
Logan, J.I.1
Harveyson, K.B.2
Wisdom, G.B.3
Hughes, A.E.4
Atchbold, G.P.R.5
-
18
-
-
0028895749
-
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
-
Yoshida K, Furihata K, Takeda S et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995; 9: 267-72
-
(1995)
Nat Genet
, vol.9
, pp. 267-272
-
-
Yoshida, K.1
Furihata, K.2
Takeda, S.3
-
19
-
-
0028903259
-
Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
-
Harris ZL, Takahashi Y, Miyajima H et al. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci USA 1995; 92: 2539-43
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 2539-2543
-
-
Harris, Z.L.1
Takahashi, Y.2
Miyajima, H.3
-
20
-
-
0029909937
-
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
-
Petris MJ, Mercer JF, Culvenor JG et al. 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; 15: 6084-95
-
(1996)
EMBO J
, vol.15
, pp. 6084-6095
-
-
Petris, M.J.1
Mercer, J.F.2
Culvenor, J.G.3
-
21
-
-
0030803730
-
Biochemical characterization of the wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae
-
Hung IH, Suzuki M, Yamaguchi Y et al. Biochemical characterization of the wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae. J Biol Chem 1997; 272: 21461-6
-
(1997)
J Biol Chem
, vol.272
, pp. 21461-21466
-
-
Hung, I.H.1
Suzuki, M.2
Yamaguchi, Y.3
-
22
-
-
0030928379
-
Menkes disease: Recent advances and new aspects
-
Turner Z, Horn N. Menkes disease: recent advances and new aspects. J Med Genet 1997; 34: 265-74
-
(1997)
J Med Genet
, vol.34
, pp. 265-274
-
-
Turner, Z.1
Horn, N.2
-
23
-
-
0031025976
-
Identification of point mutations in 41 unrelated patients affected with Menkes disease
-
Turner Z, Lund C, Tolshave J et al. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet 1997; 60: 63-71
-
(1997)
Am J Hum Genet
, vol.60
, pp. 63-71
-
-
Turner, Z.1
Lund, C.2
Tolshave, J.3
-
24
-
-
0032485513
-
Early treatment of Menkes disease with parenteral copper-histidine: Long-term follow-up of four treated patients
-
Christodoulou J, Danks DM, Sarkar B et al. Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 1998; 76: 154-64
-
(1998)
Am J Med Genet
, vol.76
, pp. 154-164
-
-
Christodoulou, J.1
Danks, D.M.2
Sarkar, B.3
-
25
-
-
0031971144
-
Menkes syndrome and animal models
-
Mercer JF. Menkes syndrome and animal models. Am J Clin Nutr 1998; 67: 1022S-8S
-
(1998)
Am J Clin Nutr
, vol.67
-
-
Mercer, J.F.1
-
26
-
-
0030954683
-
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease
-
Masson W, Hughes H, Papworth D, Boyd Y, Horn N. Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. J Med Genet 1997; 34: 729-32
-
(1997)
J Med Genet
, vol.34
, pp. 729-732
-
-
Masson, W.1
Hughes, H.2
Papworth, D.3
Boyd, Y.4
Horn, N.5
-
27
-
-
17544388130
-
Wilson's disease in patients with liver disease: A diagnostic challenge
-
Steindl P, Ferenci P, Dienes HP et al. Wilson's disease in patients with liver disease: a diagnostic challenge. Gastroenterology 1998; 113: 212-8
-
(1998)
Gastroenterology
, vol.113
, pp. 212-218
-
-
Steindl, P.1
Ferenci, P.2
Dienes, H.P.3
-
29
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
erratum in Nat Genet 1995; 9: 451
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences [erratum in Nat Genet 1995; 9: 451]. Nat Genet 1995; 9: 210-7
-
(1995)
Nat Genet
, vol.9
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
30
-
-
0028001088
-
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene
-
Wu J, Forbes JR, Chen HS, Cox DW. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat Genet 1994; 7: 541-5
-
(1994)
Nat Genet
, vol.7
, pp. 541-545
-
-
Wu, J.1
Forbes, J.R.2
Chen, H.S.3
Cox, D.W.4
-
31
-
-
0033617198
-
Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease
-
Forbes JR, Hsi G, Cox DW. 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; 274: 12408-13
-
(1999)
J Biol Chem
, vol.274
, pp. 12408-12413
-
-
Forbes, J.R.1
Hsi, G.2
Cox, D.W.3
-
32
-
-
0029799569
-
Molecular advances in Wilson disease
-
Boyer JL, Ockner RK (Eds) Philadelphia: Saunders
-
Cox DW. Molecular advances in Wilson disease. In: Boyer JL, Ockner RK (Eds) Progress in Liver Diseases. Philadelphia: Saunders, 1996: 245-64
-
(1996)
Progress in Liver Diseases
, pp. 245-264
-
-
Cox, D.W.1
-
33
-
-
0015882078
-
Copper chelation in patients with Wilson's disease. A comparison of penicillamine and triethylene tetramine dihydrochloride
-
Walshe JM. Copper chelation in patients with Wilson's disease. A comparison of penicillamine and triethylene tetramine dihydrochloride. Quart J Med 1973; 42: 441-52
-
(1973)
Quart J Med
, vol.42
, pp. 441-452
-
-
Walshe, J.M.1
-
34
-
-
0029821201
-
Treatment of Wilson disease with ammonium tetrathiomolybdate. II. Initial therapy in 33 neurologically affected patients and follow-up with zinc therapy
-
Brewer GJ, Johnson V, Dick RD et al. Treatment of Wilson disease with ammonium tetrathiomolybdate. II. Initial therapy in 33 neurologically affected patients and follow-up with zinc therapy. Arch Neurol 1996; 53: 1017-25
-
(1996)
Arch Neurol
, vol.53
, pp. 1017-1025
-
-
Brewer, G.J.1
Johnson, V.2
Dick, R.D.3
-
35
-
-
0018764261
-
Oral zinc sulphate as long term treatment in Wilson's disease (hepatolenticular degeneration)
-
Hoogenraad TU, Koevoet R, DeRuyter-Korver EGWM. Oral zinc sulphate as long term treatment in Wilson's disease (hepatolenticular degeneration). Eur Neurol 1979; 18: 205-11
-
(1979)
Eur Neurol
, vol.18
, pp. 205-211
-
-
Hoogenraad, T.U.1
Koevoet, R.2
DeRuyter-Korver, E.G.W.M.3
-
36
-
-
0029933296
-
Metal-induced hepatotoxicity
-
Britton RS. Metal-induced hepatotoxicity. Semin Liver Dis 1996; 16: 3-12
-
(1996)
Semin Liver Dis
, vol.16
, pp. 3-12
-
-
Britton, R.S.1
-
37
-
-
0027943858
-
Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis
-
Sokol R, Twedt D, McKim JM et al. Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis. Gastroenterology 1994; 107: 1788-98
-
(1994)
Gastroenterology
, vol.107
, pp. 1788-1798
-
-
Sokol, R.1
Twedt, D.2
McKim, J.M.3
-
38
-
-
0032977740
-
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13- P16
-
van de Sluis BJA, Breen M, Nanjir M et al. 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; 8: 501-7
-
(1999)
Hum Mol Genet
, vol.8
, pp. 501-507
-
-
Van De Sluis, B.J.A.1
Breen, M.2
Nanjir, M.3
|