-
1
-
-
84963072124
-
Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver
-
Wilson S. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912, 34:295.
-
(1912)
Brain
, vol.34
, pp. 295
-
-
Wilson, S.1
-
2
-
-
0025205112
-
Perspectives on Wilson's disease
-
Sterlieb I. Perspectives on Wilson's disease. Hepathology 1990, 12:1234-1239.
-
(1990)
Hepathology
, vol.12
, pp. 1234-1239
-
-
Sterlieb, I.1
-
3
-
-
0028820678
-
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
-
Figus A., Angius A., Loudianos G., Bertini C., Dessi V., Loi A., et al. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 1995, 57:1318-1324.
-
(1995)
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
-
4
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., Cox D.W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 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
-
5
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease
-
Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease. Nat Genet 1993, 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
-
6
-
-
34447510930
-
Function and regulation of human copper-transporting ATPases
-
Lutsenko S., Barnes N.L., Bartee M.Y., Dmitriev O.Y. Function and regulation of human copper-transporting ATPases. Physiol Rev 2007, 87:1011-1046.
-
(2007)
Physiol Rev
, vol.87
, pp. 1011-1046
-
-
Lutsenko, S.1
Barnes, N.L.2
Bartee, M.Y.3
Dmitriev, O.Y.4
-
8
-
-
36448983237
-
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
-
de Bie P., Muller P., Wijmenga C., Klomp L.W.J. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet 2007, 44:673-688.
-
(2007)
J Med Genet
, vol.44
, pp. 673-688
-
-
de Bie, P.1
Muller, P.2
Wijmenga, C.3
Klomp, L.W.J.4
-
9
-
-
84864300450
-
Charting the travels of copper in eukaryotes from yeast to mammals
-
Nevitt T. Charting the travels of copper in eukaryotes from yeast to mammals. Biomed Biochim Acta 2012, 1823:1580-1593.
-
(2012)
Biomed Biochim Acta
, vol.1823
, pp. 1580-1593
-
-
Nevitt, T.1
-
10
-
-
84875889916
-
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations
-
Papur O.S., Akman S.A., Cakmur R., Terzioglu O. Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations. Eur J Med Genet 2013, 56:175-179.
-
(2013)
Eur J Med Genet
, vol.56
, pp. 175-179
-
-
Papur, O.S.1
Akman, S.A.2
Cakmur, R.3
Terzioglu, O.4
-
11
-
-
0036270543
-
Transformati{dotless}on of yeast by the Liac/SS carrier DNA/PEG method
-
Gietz R.D., Woods R.A. Transformati{dotless}on of yeast by the Liac/SS carrier DNA/PEG method. Methods Enzymol 2002, 350:87-96.
-
(2002)
Methods Enzymol
, vol.350
, pp. 87-96
-
-
Gietz, R.D.1
Woods, R.A.2
-
12
-
-
0029921680
-
A permease-oxidase complex involved in high-affinity iron uptake in yeast
-
Stearman R., Yuan D.S., Yamaguchi-Iwai Y., Klausner R.D., Dancis A. A permease-oxidase complex involved in high-affinity iron uptake in yeast. Science 1996, 271:1552-1557.
-
(1996)
Science
, vol.271
, pp. 1552-1557
-
-
Stearman, R.1
Yuan, D.S.2
Yamaguchi-Iwai, Y.3
Klausner, R.D.4
Dancis, A.5
-
13
-
-
20544477907
-
The yeast multicopper oxidase Fet3p and the iron permease Ftr1p physically interact
-
Bonaccorsi di Patti M.C., Miele R., Eugenia Schininà M., Barra D. The yeast multicopper oxidase Fet3p and the iron permease Ftr1p physically interact. Biochem Biophys Res Commun 2005, 333:432-437.
-
(2005)
Biochem Biophys Res Commun
, vol.333
, pp. 432-437
-
-
Bonaccorsi di Patti, M.C.1
Miele, R.2
Eugenia Schininà, M.3
Barra, D.4
-
14
-
-
0028916909
-
The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake
-
Yuan D.S., Stearman R., Dancis A., Dunn T., Beeler T., Klausner R.D. 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, 92:2632-2636.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 2632-2636
-
-
Yuan, D.S.1
Stearman, R.2
Dancis, A.3
Dunn, T.4
Beeler, T.5
Klausner, R.D.6
-
15
-
-
0032471911
-
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
-
Forbes J.R., Cox D.W. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?. Am J Hum Genet 1998, 63:1663-1674.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1663-1674
-
-
Forbes, J.R.1
Cox, D.W.2
-
16
-
-
0030803730
-
Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae
-
Hung I.H., Suzuki M., Yamaguchi Y., Yuan D.S., Klausner R.S., Gitlin J.D. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae. J Biol Chem 1997, 272(34):21461-21466.
-
(1997)
J Biol Chem
, vol.272
, Issue.34
, pp. 21461-21466
-
-
Hung, I.H.1
Suzuki, M.2
Yamaguchi, Y.3
Yuan, D.S.4
Klausner, R.S.5
Gitlin, J.D.6
|