-
2
-
-
14244260491
-
Wilson disease in septuganerian siblings: Raising the bar for diagnosis
-
A. Ala, J. Borjigin, A. Rochwarger Wilson disease in septuganerian siblings raising the bar for diagnosis Hepatology 41 2005 668 670
-
(2005)
Hepatology
, vol.41
, pp. 668-670
-
-
Ala, A.1
Borjigin, J.2
Rochwarger, A.3
-
3
-
-
0027427695
-
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
-
K. Petrukhin, S.G. Fischer, M. Pirastu Mapping, cloning and genetic characterization of the region containing the Wilson disease gene Nature Genet 5 1993 338 343
-
(1993)
Nature Genet
, vol.5
, pp. 338-343
-
-
Petrukhin, K.1
Fischer, S.G.2
Pirastu, M.3
-
4
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
R.E. Tanzi, K. Petrukhin, I. Chernov The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene Nature Genet 5 1993 344 350
-
(1993)
Nature Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
-
5
-
-
0028040512
-
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
-
K.E. Petrukhin, S. Lutsenko, I. Chernov Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase genomic organization, alternative splicing, and structure/function predictions Hum Mol Genet 3 1994 1647 1656
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1647-1656
-
-
Petrukhin, K.E.1
Lutsenko, S.2
Chernov, I.3
-
6
-
-
0034700982
-
Copper-induced conformational changes in the N-terminal domain of the Wilson disease copper-transporting ATPase
-
M. DiDonato, H.F. Hsu, S. Narindrasorasak Copper-induced conformational changes in the N-terminal domain of the Wilson disease copper-transporting ATPase Biochemistry 39 2000 1890 1896
-
(2000)
Biochemistry
, vol.39
, pp. 1890-1896
-
-
Didonato, M.1
Hsu, H.F.2
Narindrasorasak, S.3
-
7
-
-
0035965241
-
Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase
-
S.M. Vanderwerf, M.J. Cooper, I.V. Stetsenko Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase J Biol Chem 276 2001 36289 36294
-
(2001)
J Biol Chem
, vol.276
, pp. 36289-36294
-
-
Vanderwerf, S.M.1
Cooper, M.J.2
Stetsenko, I.V.3
-
8
-
-
3042781148
-
Intracellular trafficking of the human Wilson protein: The role of the six N-terminal metal-binding sites
-
M.A. Cater, J. Forbes, S. La Fontaine Intracellular trafficking of the human Wilson protein the role of the six N-terminal metal-binding sites Biochem J 380 2004 805 813
-
(2004)
Biochem J
, vol.380
, pp. 805-813
-
-
Cater, M.A.1
Forbes, J.2
La Fontaine, S.3
-
9
-
-
0037040252
-
Biochemical characterization of the human copper transporter Ctr1
-
J. Lee, M.M. Pena, Y. Nose Biochemical characterization of the human copper transporter Ctr1 J Biol Chem 277 2001 4380 4387
-
(2001)
J Biol Chem
, vol.277
, pp. 4380-4387
-
-
Lee, J.1
Pena, M.M.2
Nose, Y.3
-
10
-
-
0036606750
-
Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1)
-
A.E. Klomp, B.B. Tops, I.E. Van Denberg Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1) Biochem J 364 2002 497 505
-
(2002)
Biochem J
, vol.364
, pp. 497-505
-
-
Klomp, A.E.1
Tops, B.B.2
Van Denberg, I.E.3
-
11
-
-
0032555204
-
The elusive function of metallothioneins
-
R.D. Palmiter The elusive function of metallothioneins Proc Natl Acad Sci U S A 95 1998 8428 8430
-
(1998)
Proc Natl Acad Sci U S a
, vol.95
, pp. 8428-8430
-
-
Palmiter, R.D.1
-
12
-
-
0038241789
-
Hepatic copper metabolism: Insights from genetic disease
-
Y.T. Tao, J.D. Gitlin Hepatic copper metabolism insights from genetic disease Hepatology 37 2003 1241 1247
-
(2003)
Hepatology
, vol.37
, pp. 1241-1247
-
-
Tao, Y.T.1
Gitlin, J.D.2
-
13
-
-
0033813548
-
Structural basis for copper transfer by the metallochaperone for Menkes/Wilson disease proteins
-
A.K. Wernimont, D.L. Huffman, A.L. Lamb Structural basis for copper transfer by the metallochaperone for Menkes/Wilson disease proteins Nat Struct Biol 7 2000 766 771
-
(2000)
Nat Struct Biol
, vol.7
, pp. 766-771
-
-
Wernimont, A.K.1
Huffman, D.L.2
Lamb, A.L.3
-
14
-
-
0033539566
-
Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis
-
I. Hamza, M. Schaefer, L.W. Klomp Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis Proc Natl Acad Sci U S A 96 1999 13363 13368
-
(1999)
Proc Natl Acad Sci U S a
, vol.96
, pp. 13363-13368
-
-
Hamza, I.1
Schaefer, M.2
Klomp, L.W.3
-
15
-
-
0033214908
-
Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p
-
D. Larin, C. Mekios, K. Das Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p J Biol Chem 274 1999 28497 28504
-
(1999)
J Biol Chem
, vol.274
, pp. 28497-28504
-
-
Larin, D.1
Mekios, C.2
Das, K.3
-
16
-
-
0037802583
-
Function and regulation of the mammalian copper-transporting ATPases: Insights from biochemical and cell biological approaches
-
S. Lutsenko, M.J. Petris Function and regulation of the mammalian copper-transporting ATPases insights from biochemical and cell biological approaches J Membr Biol 191 2003 1 12
-
(2003)
J Membr Biol
, vol.191
, pp. 1-12
-
-
Lutsenko, S.1
Petris, M.J.2
-
17
-
-
0037008692
-
Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity
-
J.M. Walker, R. Tsivkovskii, S. Lutsenko Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity J Biol Chem 277 2002 27953 27959
-
(2002)
J Biol Chem
, vol.277
, pp. 27953-27959
-
-
Walker, J.M.1
Tsivkovskii, R.2
Lutsenko, S.3
-
18
-
-
0033617578
-
Undetectable intracellular free copper: The requirement of a copper chaperone for superoxide dismutase
-
T. Rae, P. Schmidt, R. Pufahl Undetectable intracellular free copper the requirement of a copper chaperone for superoxide dismutase Science 284 1999 805 808
-
(1999)
Science
, vol.284
, pp. 805-808
-
-
Rae, T.1
Schmidt, P.2
Pufahl, R.3
-
19
-
-
0345059398
-
Wilson disease
-
J.D. Gitlin Wilson disease Gastroenterology 125 2003 1868 1877
-
(2003)
Gastroenterology
, vol.125
, pp. 1868-1877
-
-
Gitlin, J.D.1
-
20
-
-
4344689863
-
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
-
C.T. Morgan, R. Tsivkovskii, Y.A. Kosinsky 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 279 2004 36363 36371
-
(2004)
J Biol Chem
, vol.279
, pp. 36363-36371
-
-
Morgan, C.T.1
Tsivkovskii, R.2
Kosinsky, Y.A.3
-
21
-
-
0032734949
-
Localization of the Wilson's disease protein in human liver
-
M. Schaefer, H. Roelofsen, H. Wolters Localization of the Wilson's disease protein in human liver Gastroenterology 117 1999 1380 1385
-
(1999)
Gastroenterology
, vol.117
, pp. 1380-1385
-
-
Schaefer, M.1
Roelofsen, H.2
Wolters, H.3
-
22
-
-
0034641603
-
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
-
J.R. Forbes, D.W. Cox Copper-dependent trafficking of Wilson disease mutant ATP7B proteins Hum Mol Genet 9 2000 1927 1935
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1927-1935
-
-
Forbes, J.R.1
Cox, D.W.2
-
23
-
-
0037309679
-
Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines
-
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
-
(2003)
Gastroenterology
, vol.124
, pp. 335-345
-
-
Huster, D.1
Hoppert, M.2
Lutsenko, S.3
-
24
-
-
0030871471
-
The His1069Gln mutation in Wilson's disease: Detection by a rapid PCR-test, clinical course and liver biopsy findings
-
T. Maier-Dobersberger, P. Ferenci, C. Polli The His1069Gln mutation in Wilson's disease detection by a rapid PCR-test, clinical course and liver biopsy findings Ann Intern Med 127 1997 21 26
-
(1997)
Ann Intern Med
, vol.127
, pp. 21-26
-
-
Maier-Dobersberger, T.1
Ferenci, P.2
Polli, C.3
-
25
-
-
0035171548
-
High prevalence of the H1069Q mutation in East German patients with Wilson disease: Rapid detection of mutations by limited sequencing and phenotype-genotype analysis
-
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
-
(2001)
J Hepatol
, vol.35
, pp. 575-581
-
-
Caca, K.1
Ferenci, P.2
Kuhn, H.J.3
-
26
-
-
0037082977
-
Common mutations of ATP7B in Wilson disease patients from Hungary
-
G. Firneisz, P.L. Lakatos, F. Szalay Common mutations of ATP7B in Wilson disease patients from Hungary Am J Med Genet 108 2002 23 28
-
(2002)
Am J Med Genet
, vol.108
, pp. 23-28
-
-
Firneisz, G.1
Lakatos, P.L.2
Szalay, F.3
-
27
-
-
17544388130
-
Wilson's disease in patients presenting with liver disease: A diagnostic challenge
-
P. Steindl, P. Ferenci, H.P. Dienes Wilson's disease in patients presenting with liver disease a diagnostic challenge Gastroenterology 113 1997 212 218
-
(1997)
Gastroenterology
, vol.113
, pp. 212-218
-
-
Steindl, P.1
Ferenci, P.2
Dienes, H.P.3
-
28
-
-
33644566071
-
Diagnostic value of quantitative copper determination in liver biopsy samples in patients with Wilson disease
-
(in press).
-
Ferenci P, Steindl-Munda P, Vogel W, et al. Diagnostic value of quantitative copper determination in liver biopsy samples in patients with Wilson disease. J Clin Gastroenterol Hepatol (in press).
-
J Clin Gastroenterol Hepatol
-
-
Ferenci, P.1
Steindl-Munda, P.2
Vogel, W.3
-
29
-
-
0142029450
-
Diagnosis and phenotypic classification of Wilson disease: Final report of the proceedings of the working party at the 8th International Meeting on Wilson disease and Menkes disease, Leipzig/Germany, 2001
-
P. Ferenci, K. Caca, G. Loudianos Diagnosis and phenotypic classification of Wilson disease final report of the proceedings of the working party at the 8th International Meeting on Wilson disease and Menkes disease, Leipzig/Germany, 2001 Liver Int 23 2003 139 142
-
(2003)
Liver Int
, vol.23
, pp. 139-142
-
-
Ferenci, P.1
Caca, K.2
Loudianos, G.3
-
30
-
-
2942650296
-
Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology
-
D. Huster, M. Weizenegger, S. Kress Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology Clin Chem Lab Med 42 2004 507 510
-
(2004)
Clin Chem Lab Med
, vol.42
, pp. 507-510
-
-
Huster, D.1
Weizenegger, M.2
Kress, S.3
-
31
-
-
0037369857
-
Efficient strategy for molecular diagnosis of Wilson disease in the Sardinian population
-
M. Lovicu, V. Dessi, A. Zappu Efficient strategy for molecular diagnosis of Wilson disease in the Sardinian population Clin Chem 49 2003 496 498
-
(2003)
Clin Chem
, vol.49
, pp. 496-498
-
-
Lovicu, M.1
Dessi, V.2
Zappu, A.3
-
32
-
-
0031971699
-
Role of copper in Indian childhood cirrhosis
-
M.S. Tanner Role of copper in Indian childhood cirrhosis Am J Clin Nutr 67 1998 1074S 1081S
-
(1998)
Am J Clin Nutr
, vol.67
-
-
Tanner, M.S.1
-
33
-
-
0029983769
-
Endemic Tyrolean infantile cirrhosis: An ecogenetic disorder
-
T. Muller, H. Feichtinger, H. Berger Endemic Tyrolean infantile cirrhosis an ecogenetic disorder Lancet 347 1996 877 880
-
(1996)
Lancet
, vol.347
, pp. 877-880
-
-
Muller, T.1
Feichtinger, H.2
Berger, H.3
-
34
-
-
0029928263
-
Wilson disease and idiopathic copper toxicosis
-
I.H. Scheinberg, I. Sternlieb Wilson disease and idiopathic copper toxicosis Am J Clin Nutr 63 1996 842S 845S
-
(1996)
Am J Clin Nutr
, vol.63
-
-
Scheinberg, I.H.1
Sternlieb, I.2
-
35
-
-
13044292638
-
Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease
-
C. Wijmenga, T. Muller, I.S. Murli Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease Eur J Hum Genet 6 1998 624 628
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 624-628
-
-
Wijmenga, C.1
Muller, T.2
Murli, I.S.3
-
36
-
-
0037081771
-
Identification of a new copper metabolism gene by positional cloning in a purebred dog population
-
B. van de Sluis, J. Rothuizen, P.L. Pearson Identification of a new copper metabolism gene by positional cloning in a purebred dog population Hum Mol Genet 11 2002 165 173
-
(2002)
Hum Mol Genet
, vol.11
, pp. 165-173
-
-
Van De Sluis, B.1
Rothuizen, J.2
Pearson, P.L.3
-
37
-
-
0142149219
-
The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein
-
T.Y. Tao, F. Liu, L. Klomp The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein J Biol Chem 278 2003 41593 41596
-
(2003)
J Biol Chem
, vol.278
, pp. 41593-41596
-
-
Tao, T.Y.1
Liu, F.2
Klomp, L.3
-
38
-
-
4744373669
-
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients
-
B. Stuehler, J. Reichert, W. Stremme Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients J Mol Med 82 2004 629 634
-
(2004)
J Mol Med
, vol.82
, pp. 629-634
-
-
Stuehler, B.1
Reichert, J.2
Stremme, W.3
-
39
-
-
9644308138
-
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
-
E. Panagiotakaki, M. Tzetis, N. Manolaki Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B) Am J Med Genet 2004 Nov 2 [Epub ahead of print]
-
(2004)
Am J Med Genet
-
-
Panagiotakaki, E.1
Tzetis, M.2
Manolaki, N.3
-
40
-
-
0028820678
-
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
-
A. Figus, A. Angius, O. Loudianos Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations Am J Hum Genet 57 1995 1318 1324
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1318-1324
-
-
Figus, A.1
Angius, A.2
Loudianos, O.3
-
41
-
-
0033651947
-
High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study
-
L. Garcia-Villareal, S. Daniels, S.H. Shaw High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain) a genetic and clinical study Hepatology 32 2000 1329 1336
-
(2000)
Hepatology
, vol.32
, pp. 1329-1336
-
-
Garcia-Villareal, L.1
Daniels, S.2
Shaw, S.H.3
-
42
-
-
0032710179
-
Mutation analysis in patients of Mediterranean descent with Wilson disease: Identification of 19 novel mutations
-
G. Loudianos, V. Dessi, M. Lovicu Mutation analysis in patients of Mediterranean descent with Wilson disease identification of 19 novel mutations J Med Genet 36 1999 833 836
-
(1999)
J Med Genet
, vol.36
, pp. 833-836
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
-
43
-
-
33644568200
-
Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients
-
M.M. Deguti, J. Genschel, E.L. Cancado Wilson disease novel mutations in the ATP7B gene and clinical correlation in Brazilian patients Hum Mutat 398 2004 1 8
-
(2004)
Hum Mutat
, vol.398
, pp. 1-8
-
-
Deguti, M.M.1
Genschel, J.2
Cancado, E.L.3
-
44
-
-
1242269899
-
A clinical and genetic study of 56 Saudi Wilson disease patients: Identification of Saudi-specific mutations
-
M. Al Jumah, R. Majumdar, S. Al Rajeh A clinical and genetic study of 56 Saudi Wilson disease patients identification of Saudi-specific mutations Eur J Neurol 11 2004 121 124
-
(2004)
Eur J Neurol
, vol.11
, pp. 121-124
-
-
Al Jumah, M.1
Majumdar, R.2
Al Rajeh, S.3
-
45
-
-
0032793169
-
Molecular analysis and diagnosis in Japanese patients with Wilson's disease
-
N. Shimizu, H. Nakazono, Y. Takeshita Molecular analysis and diagnosis in Japanese patients with Wilson's disease Pediatr Int 41 1999 409 413
-
(1999)
Pediatr Int
, vol.41
, pp. 409-413
-
-
Shimizu, N.1
Nakazono, H.2
Takeshita, Y.3
-
46
-
-
0345480774
-
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
-
E.K. Kim, O.J. Yoo, K.Y. Song Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease Hum Mutat 11 1998 275 278
-
(1998)
Hum Mutat
, vol.11
, pp. 275-278
-
-
Kim, E.K.1
Yoo, O.J.2
Song, K.Y.3
|