-
1
-
-
14244260491
-
Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
-
Ala A, Borjigin J, Rochwarger A, Schilsky M. 2005. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 41: 668-670.
-
(2005)
Hepatology
, vol.41
, pp. 668-670
-
-
Ala, A.1
Borjigin, J.2
Rochwarger, A.3
Schilsky, M.4
-
2
-
-
33646708274
-
Erythrocyte metabolism and antioxidant status of patients with Wilson disease with hemolytic anemia
-
Attri S, Sharma N, Jahagirdar S, Thapa BR, Prasad R. 2006. Erythrocyte metabolism and antioxidant status of patients with Wilson disease with hemolytic anemia. Pediatr Res 59(Pt 1):593-597.
-
(2006)
Pediatr Res
, vol.59
, Issue.PART 1
, pp. 593-597
-
-
Attri, S.1
Sharma, N.2
Jahagirdar, S.3
Thapa, B.R.4
Prasad, R.5
-
3
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. 1993. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327-337.
-
(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
-
4
-
-
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
-
Caca K, Ferenci R Kuhn HJ, Polli C, Willgerodt H, Kunath B, Hermann W, Mossner J, Berr F. 2001. 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 35:575-581.
-
(2001)
J Hepatol
, vol.35
, pp. 575-581
-
-
Caca, K.1
Ferenci, R.2
Kuhn, H.J.3
Polli, C.4
Willgerodt, H.5
Kunath, B.6
Hermann, W.7
Mossner, J.8
Berr, F.9
-
5
-
-
32044432823
-
ATP7B mediates vesicular sequestration of copper: Insight into biliary copper excretion
-
Cater MA, La Fontaine S, Shield K, Deal Y, Mercer JF. 2006. ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion. Gastroenterology 130:493-506.
-
(2006)
Gastroenterology
, vol.130
, pp. 493-506
-
-
Cater, M.A.1
La Fontaine, S.2
Shield, K.3
Deal, Y.4
Mercer, J.F.5
-
6
-
-
33746763794
-
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry
-
Cox DW, Prat L, Walshe JM, Heathcote J, Gaffney D. 2005. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. Hum Mutat 26:280.
-
(2005)
Hum Mutat
, vol.26
, pp. 280
-
-
Cox, D.W.1
Prat, L.2
Walshe, J.M.3
Heathcote, J.4
Gaffney, D.5
-
7
-
-
0348101414
-
Wilson disease
-
Scharschmidt B, Sleisinger MH, editors, Philadelphia: W.B. Saunders. p
-
Cox DW, Roberts EA. 2006a. Wilson disease. In: Scharschmidt B, Sleisinger MH, editors. Sleisinger and Fordtran's gastrointestinal disease: pathophysiology, diagnosis, management. Philadelphia: W.B. Saunders. p 1269-1277.
-
(2006)
Sleisinger and Fordtran's gastrointestinal disease: Pathophysiology, diagnosis, management
, pp. 1269-1277
-
-
Cox, D.W.1
Roberts, E.A.2
-
9
-
-
0242609994
-
Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease
-
Cullen LM, Prat L, Cox DW. 2003. Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease. Clin Genet 64:429-432.
-
(2003)
Clin Genet
, vol.64
, pp. 429-432
-
-
Cullen, L.M.1
Prat, L.2
Cox, D.W.3
-
10
-
-
0032852326
-
A study of Wilson disease mutations in Britain
-
Curtis D, Durkie M, Balac MR Sheard D, Goodeve A, Peake I, Quarrell O, Tanner S. 1999. A study of Wilson disease mutations in Britain. Hum Mutat 14:304-311.
-
(1999)
Hum Mutat
, vol.14
, pp. 304-311
-
-
Curtis, D.1
Durkie, M.2
Balac, M.R.3
Sheard, D.4
Goodeve, A.5
Peake, I.6
Quarrell, O.7
Tanner, S.8
-
11
-
-
2342620218
-
Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients
-
Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH. 2004. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat 23:398.
-
(2004)
Hum Mutat
, vol.23
, pp. 398
-
-
Deguti, M.M.1
Genschel, J.2
Cancado, E.L.3
Barbosa, E.R.4
Bochow, B.5
Mucenic, M.6
Porta, G.7
Lochs, H.8
Carrilho, F.J.9
Schmidt, H.H.10
-
12
-
-
0033987736
-
Mutation nomenclature extension and suggestion to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extension and suggestion to describe complex mutations: a discussion. Hum Mutat 15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
-
13
-
-
0028820678
-
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
-
Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana A. 1996. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 57:1318-1324.
-
(1996)
Am J Hum Genet
, vol.57
, pp. 1318-1324
-
-
Figus, A.1
Angius, A.2
Loudianos, G.3
Bertini, C.4
Dessi, V.5
Loi, A.6
Deiana, A.7
-
14
-
-
0037082977
-
Common mutations of ATP7B in Wilson disease patients from Hungary
-
Firneisz G, Lakatos PL, Szalay F, Polli C, Giant TT, Ferenci R 2002. Common mutations of ATP7B in Wilson disease patients from Hungary. Am J Med Genet 108:23-28.
-
(2002)
Am J Med Genet
, vol.108
, pp. 23-28
-
-
Firneisz, G.1
Lakatos, P.L.2
Szalay, F.3
Polli, C.4
Giant, T.T.5
Ferenci, R.6
-
15
-
-
0032471911
-
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
-
Forbes JR, Cox DW. 1998. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? Am J Hum Genet 63:1663-1674.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1663-1674
-
-
Forbes, J.R.1
Cox, D.W.2
-
16
-
-
0034641603
-
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
-
Forbes JR, Cox DW. 2000. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 9:1927-1935.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1927-1935
-
-
Forbes, J.R.1
Cox, D.W.2
-
17
-
-
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. 1999. Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease. J Biol Chem 274:12408-12413.
-
(1999)
J Biol Chem
, vol.274
, pp. 12408-12413
-
-
Forbes, J.R.1
Hsi, G.2
Cox, D.W.3
-
18
-
-
0345170773
-
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. 2003. 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 64:479-484.
-
(2003)
Clin Genet
, vol.64
, pp. 479-484
-
-
Gu, Y.H.1
Kodama, H.2
Du, S.L.3
Gu, Q.J.4
Sun, H.J.5
Ushijima, H.6
-
19
-
-
0032406019
-
His 1069Gln and six novel Wilson disease mutations: Analysis of relevance for early diagnosis and phenotype
-
Ha-Hao D, Hefter H, Stremmel W, Castaneda-Guillot C, Hernandez AH, Cox DW, Auburger G. 1998. His 1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. Eur J Hum Genet 6:616-623.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 616-623
-
-
Ha-Hao, D.1
Hefter, H.2
Stremmel, W.3
Castaneda-Guillot, C.4
Hernandez, A.H.5
Cox, D.W.6
Auburger, G.7
-
20
-
-
0033539566
-
Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis
-
Hamza I, Schaefer M, Klomp LW, Gitlin JD. 1999. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proc Natl Acad Sci USA 96:13363-13368.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 13363-13368
-
-
Hamza, I.1
Schaefer, M.2
Klomp, L.W.3
Gitlin, J.D.4
-
21
-
-
1242316275
-
Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B
-
Hsi G, Cullen LM, Moira Glerum D, Cox DW. 2004. Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B. Genomics 83:473-481.
-
(2004)
Genomics
, vol.83
, pp. 473-481
-
-
Hsi, G.1
Cullen, L.M.2
Moira Glerum, D.3
Cox, D.W.4
-
22
-
-
0037309679
-
Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines
-
Huster D, Hoppert M, Lutsenko S, Zinke J, Lehmann C, Mossner J, Berr F, Caca K. 2003. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. Gastroenterology 124:335-345.
-
(2003)
Gastroenterology
, vol.124
, pp. 335-345
-
-
Huster, D.1
Hoppert, M.2
Lutsenko, S.3
Zinke, J.4
Lehmann, C.5
Mossner, J.6
Berr, F.7
Caca, K.8
-
23
-
-
0032577524
-
Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae
-
Iida M, Terada K, Sambongi Y, Wakabayashi T, Miura N, Koyama K, Futai M, Sugiyama T. 1998. Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae. FEBS Lett 428:281-285.
-
(1998)
FEBS Lett
, vol.428
, pp. 281-285
-
-
Iida, M.1
Terada, K.2
Sambongi, Y.3
Wakabayashi, T.4
Miura, N.5
Koyama, K.6
Futai, M.7
Sugiyama, T.8
-
24
-
-
0031930832
-
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. 1998. Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat 11:145-151.
-
(1998)
Hum Mutat
, vol.11
, pp. 145-151
-
-
Kalinsky, H.1
Funes, A.2
Zeldin, A.3
Pel-Or, Y.4
Korostishevsky, M.5
Gershoni-Baruch, R.6
Farrer, L.A.7
Bonne-Tamir, B.8
-
25
-
-
0345480774
-
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
-
Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH. 1998. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 11:275-278.
-
(1998)
Hum Mutat
, vol.11
, pp. 275-278
-
-
Kim, E.K.1
Yoo, O.J.2
Song, K.Y.3
Yoo, H.W.4
Choi, S.Y.5
Cho, S.W.6
Hahn, S.H.7
-
26
-
-
1542284697
-
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease
-
Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, Bao KR, Yu LH, Wang MX. 2004. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol 10:590-593.
-
(2004)
World J Gastroenterol
, vol.10
, pp. 590-593
-
-
Liu, X.Q.1
Zhang, Y.F.2
Liu, T.T.3
Hsiao, K.J.4
Zhang, J.M.5
Gu, X.F.6
Bao, K.R.7
Yu, L.H.8
Wang, M.X.9
-
27
-
-
13144294073
-
Haplotype and mutation analysis in Greek patients with Wilson disease
-
Loudianos G, Dessi V, Lovicu M, Angius A, Kanavakis E, Tzetis M, Kattamis C, Manolaki N, Vassiliki G, Karpathios T, Cao A, Pirastu M. 1998a. Haplotype and mutation analysis in Greek patients with Wilson disease. Eur J Hum Genet 6:487-491.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 487-491
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Kanavakis, E.5
Tzetis, M.6
Kattamis, C.7
Manolaki, N.8
Vassiliki, G.9
Karpathios, T.10
Cao, A.11
Pirastu, M.12
-
28
-
-
7144256225
-
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population
-
Loudianos G, Dessi V, Lovicu M, Angius A, Nurchi A, Sturniolo GC, Marcellini M, Zancan L, Bragetti R Akar N, Yagci R, Vegnente A, Cao A, Pirastu M. 1998b. Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Hum Mutat 12:89-94.
-
(1998)
Hum Mutat
, vol.12
, pp. 89-94
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Nurchi, A.5
Sturniolo, G.C.6
Marcellini, M.7
Zancan, L.8
Bragetti, R.9
Akar, N.10
Yagci, R.11
Vegnente, A.12
Cao, A.13
Pirastu, M.14
-
29
-
-
0032710179
-
Mutation analysis in patients of Mediterranean descent with Wilson disease: Identification of 19 novel mutations
-
Loudianos G, Dessi V, Lovicu M, Angius A, Altuntas B, Giacchino R, Marazzi M, Marcellini M, Sartorelli MR, Sturniolo GC, Kocak N, Yuce A, Akar N, Pirastu M, Cao A. 1999a. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. J Med Genet 36:833-836.
-
(1999)
J Med Genet
, vol.36
, pp. 833-836
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Altuntas, B.5
Giacchino, R.6
Marazzi, M.7
Marcellini, M.8
Sartorelli, M.R.9
Sturniolo, G.C.10
Kocak, N.11
Yuce, A.12
Akar, N.13
Pirastu, M.14
Cao, A.15
-
30
-
-
0032835347
-
Molecular characterization of Wilson disease in the Sardinian population - evidence of a founder effect
-
Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi AM, Deplano A, Moi R Pirastu M, Cao A. 1999b. Molecular characterization of Wilson disease in the Sardinian population - evidence of a founder effect. Hum Mutat 14:294-303.
-
(1999)
Hum Mutat
, vol.14
, pp. 294-303
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Figus, A.5
Lilliu, F.6
De Virgiliis, S.7
Nurchi, A.M.8
Deplano, A.9
Moi, R.10
Pirastu, M.11
Cao, A.12
-
31
-
-
20944443019
-
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 R Queralt R, Ballesta F 2005. Mutation analysis of Wilson disease in the Spanish population- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet 68:61-68.
-
(2005)
Clin Genet
, vol.68
, pp. 61-68
-
-
Margarit, E.1
Bach, V.2
Gomez, D.3
Bruguera, M.4
Jara, R.5
Queralt, R.6
Ballesta, F.7
-
32
-
-
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
-
Morgan CT, Tsivkovskii R, Kosinsky YA, Efremov RG, Lutsenko S. 2004. 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 279:36363-36371.
-
(2004)
J Biol Chem
, vol.279
, pp. 36363-36371
-
-
Morgan, C.T.1
Tsivkovskii, R.2
Kosinsky, Y.A.3
Efremov, R.G.4
Lutsenko, S.5
-
33
-
-
0030971764
-
Haplotype and mutation analysis in Japanese patients with Wilson disease
-
Nanji MS, Nguyen VT, Kawasoe JH, Inui K, Endo F, Nakajima T, Anezaki T, Cox DW. 1997. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 60:1423-1429.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1423-1429
-
-
Nanji, M.S.1
Nguyen, V.T.2
Kawasoe, J.H.3
Inui, K.4
Endo, F.5
Nakajima, T.6
Anezaki, T.7
Cox, D.W.8
-
34
-
-
0036118967
-
Introducing Wilson discase mutations into the zinc-transporting P-type ATPase of Escherichia coli. The mutation P634L in the 'hinge' motif (GDGXNDXP) perturbs the formation of the E2P state
-
Okkeri J, Bencomo E, Pietila M, Haltia T 2002. Introducing Wilson discase mutations into the zinc-transporting P-type ATPase of Escherichia coli. The mutation P634L in the 'hinge' motif (GDGXNDXP) perturbs the formation of the E2P state. Eur J Biochem 269:1579-1586.
-
(2002)
Eur J Biochem
, vol.269
, pp. 1579-1586
-
-
Okkeri, J.1
Bencomo, E.2
Pietila, M.3
Haltia, T.4
-
35
-
-
0030806941
-
24bp 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. 1997. 24bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease. Hum Mutat 10:84-85.
-
(1997)
Hum Mutat
, vol.10
, pp. 84-85
-
-
Orru, S.1
Thomas, G.2
Loizedda, A.3
Cox, D.W.4
Contu, L.5
-
36
-
-
0032167856
-
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation
-
Payne AS, Kelly EJ, Gitlin JD. 1998. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc Natl Acad Sci USA 95:10854-10859.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10854-10859
-
-
Payne, A.S.1
Kelly, E.J.2
Gitlin, J.D.3
-
37
-
-
37049038376
-
Wilson disease
-
Boyer T, Manns M, Wright T, editors, Philadelphia: Elsevier
-
Roberts EA, Cox DW. 2006. Wilson disease. In: Boyer T, Manns M, Wright T, editors. Zakim and Boyer's Hepatology. Philadelphia: Elsevier.
-
(2006)
Zakim and Boyer's Hepatology
-
-
Roberts, E.A.1
Cox, D.W.2
-
38
-
-
0037566015
-
A practice guideline on Wilson disease
-
Roberts EA, Schilsky ML. 2003. A practice guideline on Wilson disease. Hepatology 37:1475-1492.
-
(2003)
Hepatology
, vol.37
, pp. 1475-1492
-
-
Roberts, E.A.1
Schilsky, M.L.2
-
39
-
-
0026484871
-
Failure of simple biochemical indexes to reliably differentiate fulminant Wilson's disease from other causes of fulminant liver failure
-
Sallie R, Katsiyiannakis L, Baldwin D. 1992. Failure of simple biochemical indexes to reliably differentiate fulminant Wilson's disease from other causes of fulminant liver failure. Hepatology 16:1206-1211.
-
(1992)
Hepatology
, vol.16
, pp. 1206-1211
-
-
Sallie, R.1
Katsiyiannakis, L.2
Baldwin, D.3
-
40
-
-
22144447718
-
Wilson disease: New insights into pathogenesis, diagnosis, and future therapy
-
Schilsky ML. 2005. Wilson disease: new insights into pathogenesis, diagnosis, and future therapy. Curr Gastroenterol Rep 7:26-31.
-
(2005)
Curr Gastroenterol Rep
, vol.7
, pp. 26-31
-
-
Schilsky, M.L.1
-
41
-
-
16944366995
-
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. 1997. Identification and analysis of mutations in the Wilson disease gene (atp7b): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 61:317-328.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 317-328
-
-
Shah, A.B.1
Chernov, I.2
Zhang, H.T.3
Ross, B.M.4
Das, K.5
Lutsenko, S.6
Parano, E.7
Pavone, L.8
Evgrafov, O.9
Ivanova-Smolenskaya, I.A.10
Anneren, G.11
Westermark, K.12
Urrutia, F.H.13
Penchaszadeh, G.K.14
Sternlieb, I.15
Scheinberg, I.H.16
Gilliam, T.C.17
Petrukhin, K.18
-
42
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sternlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC. 1993. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-350.
-
(1993)
Nat Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
Pellequer, J.L.4
Wasco, W.5
Ross, B.6
Romano, D.M.7
Parano, E.8
Pavone, L.9
Brzustowicz, L.M.10
Devoto, M.11
Peppercorn, J.12
Bush, A.I.13
Sternlieb, I.14
Pirastu, M.15
Gusella, J.F.16
Evgrafov, O.17
Penchaszadeh, G.K.18
Honig, B.19
Edelman, I.S.20
Soares, M.B.21
Scheinberg, I.H.22
Gilliam, T.C.23
more..
-
43
-
-
0028869945
-
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. 1995. The Wilson disease gene: spectrum of mutations and their consequences. [Erratum in Nat Genet 1995;9:451]. Nat Genet 9:210-217.
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. 1995. The Wilson disease gene: spectrum of mutations and their consequences. [Erratum in Nat Genet 1995;9:451]. Nat Genet 9:210-217.
-
-
-
-
44
-
-
0031731014
-
Mutation analysis of Wilson disease in Taiwan and description of six new mutations
-
Tsai CH, Tsai FJ, Wu JY, Chang JG, Lee CC, Lin SP, Yang CF, Jong YJ, Lo MC. 1998. Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Hum Mutat 12:370-376.
-
(1998)
Hum Mutat
, vol.12
, pp. 370-376
-
-
Tsai, C.H.1
Tsai, F.J.2
Wu, J.Y.3
Chang, J.G.4
Lee, C.C.5
Lin, S.P.6
Yang, C.F.7
Jong, Y.J.8
Lo, M.C.9
-
45
-
-
0030298046
-
Efficient detection of mutations in Wilson disease by manifold sequencing
-
Waldenstrom E, Lagerkvist A, Dahlman T, Westermark K, Landegren U. 1996. Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics 37:303-309.
-
(1996)
Genomics
, vol.37
, pp. 303-309
-
-
Waldenstrom, E.1
Lagerkvist, A.2
Dahlman, T.3
Westermark, K.4
Landegren, U.5
-
46
-
-
0037008692
-
Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity
-
Walker JM, Tsivkovskii R, Lutsenko S. 2002. Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity. J Biol Chem 277:27953-27999.
-
(2002)
J Biol Chem
, vol.277
, pp. 27953-27999
-
-
Walker, J.M.1
Tsivkovskii, R.2
Lutsenko, S.3
-
47
-
-
2442572209
-
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. 2004. 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 279:15376-15384.
-
(2004)
J Biol Chem
, vol.279
, pp. 15376-15384
-
-
Walker, J.M.1
Huster, D.2
Ralle, M.3
Morgan, C.T.4
Blackburn, N.J.5
Lutsenko, S.6
-
48
-
-
33646848927
-
Mutation analysis of Taiwanese Wilson disease patients
-
Wan L, Tsai CH, Tsai Y, Hsu CM, Lee CC, Tsai FJ. 2006. Mutation analysis of Taiwanese Wilson disease patients. Biochem Biophys Res Commun 345:734-738.
-
(2006)
Biochem Biophys Res Commun
, vol.345
, pp. 734-738
-
-
Wan, L.1
Tsai, C.H.2
Tsai, Y.3
Hsu, C.M.4
Lee, C.C.5
Tsai, F.J.6
-
50
-
-
33646349507
-
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease
-
Wu ZY, Zhao GX, Chen WJ, Wang N, Wan B, Lin MT Murong SX, Yu L. 2006. 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 84:438-442.
-
(2006)
J Mol Med
, vol.84
, pp. 438-442
-
-
Wu, Z.Y.1
Zhao, G.X.2
Chen, W.J.3
Wang, N.4
Wan, B.5
Lin, M.T.6
Murong, S.X.7
Yu, L.8
|