-
1
-
-
84963072124
-
Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
-
(1912)
Brain
, vol.34
, pp. 295-507
-
-
Wilson, S.A.K.1
-
5
-
-
0001435653
-
The copper and iron content of brain and liver in the normal and in hepatolenticular degeneration
-
(1948)
Brain
, vol.71
, pp. 410-415
-
-
Cumings, J.N.1
-
9
-
-
0002201227
-
A genetical analysis of 30 families with Wilson's disease (hepatolenticular degeneration)
-
(1960)
Ann Hum Genet
, vol.24
, pp. 33-43
-
-
Bearn, A.G.1
-
11
-
-
0021083002
-
Evidence for linkage between the loci for transferrin and ceruloplasmin in man
-
(1983)
Ann Hum Genet
, vol.47
, pp. 293-297
-
-
Weitkamp, L.R.1
-
12
-
-
0025952952
-
Predictive testing for Wilson disease using tightly linked and flanking DNA markers
-
(1991)
Neurology
, vol.41
, pp. 992-999
-
-
Farrer, L.A.1
Bowcock, A.M.2
Hebert, J.M.3
Bonne-Tamir, B.4
Sternlieb, I.5
Giagheddu, M.6
St George-Hyslop, P.7
Frydman, M.8
Lossner, J.9
Demelia, L.10
Carcassi, C.11
Lee, R.12
Beker, R.13
Bale, A.E.14
Donis-Keller, H.15
Scheinberg, I.H.16
Cavalli-Sforza, L.L.17
-
13
-
-
0027500142
-
Isolation of a candidate gene for Menkes disease that codes a potential heavy metal binding protein
-
(1993)
Nat Genet
, vol.3
, pp. 14-19
-
-
Chelly, J.1
Tumer, Z.2
Tonnesen, T.3
Petterson, A.4
Ishikawa-Brush, Y.5
Tommerup, N.6
Horn, N.7
Monaco, A.P.8
-
14
-
-
0027475976
-
Isolation of a partial candidate gene for Menkes disease by positional cloning
-
(1993)
Nat Genet
, vol.3
, pp. 20-25
-
-
Mercer, J.F.B.1
Livingston, J.2
Hall, B.3
Paynter, J.A.4
Begy, C.5
Chandrasekharappa, S.6
Lockhart, P.7
Grimes, A.8
Bhave, M.9
Siemieniak, D.10
Glover, T.W.11
-
17
-
-
0027427695
-
Mapping, cloning and genetic characterization of the region containing the Wilson's disease gene
-
(1993)
Nat Genet
, vol.5
, pp. 338-343
-
-
Petrukhin, K.1
Fischer, S.G.2
Pirastu, M.3
Tanzi, R.E.4
Chernov, I.5
Devoto, M.6
Brzustowicz, L.M.7
Cayanis, E.8
Vitale, E.9
Russo, J.J.10
Matseoane, D.11
Boukhgalter, B.12
Wasco, W.13
Fifus, A.L.14
Loudianos, J.15
Cao, A.16
Sternlieb, L.17
Evgrafov, O.18
Parano, E.19
Pavone, L.20
Warburton, D.21
Ott, J.22
Penchaszadeh, G.K.23
Scheinberg, I.H.24
Gilliam, T.C.25
more..
-
18
-
-
0027364961
-
The Wilson's disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
(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
Brzustowitz, 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..
-
23
-
-
17144458094
-
Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adeno virus bearing WND cDNA
-
(1998)
J Biol Chem
, vol.273
, pp. 1815-1820
-
-
Terada, K.1
Nakako, T.2
Yang, X.L.3
Iida, M.4
Aiba, N.5
Minamiya, Y.6
Nakai, M.7
Sakaki, T.8
Miura, N.9
Sugiyama, T.10
-
24
-
-
0032995679
-
Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B
-
(1999)
FEBS Lett
, vol.448
, pp. 53-56
-
-
Terada, K.1
Aiba, N.2
Yang, X.L.3
Iida, M.4
Nakai, M.5
Miura, N.6
Sugiyama, T.7
-
26
-
-
0034012479
-
Role of ATP7B in biliary copper excretion in a human hepatoma cell line and normal rat hepatocytes
-
(2000)
Gastroenterology
, vol.118
, pp. 921-928
-
-
Harada, M.1
Sakisaka, S.2
Terada, K.3
Kimura, R.4
Kawaguchi, T.5
Koga, H.6
Taniguchi, E.7
Sasatomi, K.8
Miura, N.9
Suganuma, T.10
Fujita, H.11
Furuta, K.12
Tanikawa, K.13
Sugiyama, T.14
Sata, M.15
-
27
-
-
0034618595
-
Copper does not alter the intracellular distribution of ATP7B, a copper-transporting ATPase
-
(2000)
Biochem Biophys Res Commun
, vol.275
, pp. 871-876
-
-
Harada, M.1
Sakisaka, S.2
Kawaguchi, T.3
Kimura, R.4
Taniguchi, E.5
Koga, H.6
Hanada, S.7
Baba, S.8
Furuta, K.9
Kumashiro, R.10
Sugiyama, T.11
Sata, M.12
-
28
-
-
0035126940
-
A mutation of Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates
-
(2001)
Gastroenterology
, vol.120
, pp. 967-973
-
-
Harada, M.1
Sakisaka, S.2
Terada, K.3
Kimura, R.4
Kawaguchi, T.5
Koga, H.6
Kim, M.7
Taniguchi, E.8
Hanada, S.9
Suganuma, T.10
Furuta, K.11
Sugiyama, T.12
Sata, M.13
-
29
-
-
0032553535
-
Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases
-
(1998)
J Biol Chem
, vol.273
, pp. 31375-31380
-
-
La Fontaine, S.1
Firth, S.D.2
Camakaris, J.3
Englezou, A.4
Theophilos, M.B.5
Petris, M.J.6
Howie, M.7
Lockhart, P.J.8
Greenough, M.9
Brooks, H.10
Reddel, R.R.11
Mercer, J.F.B.12
-
36
-
-
16944366995
-
Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analysis
-
(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
-
37
-
-
0030871471
-
Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction
-
(1997)
Ann Intern Med
, vol.127
, pp. 21-26
-
-
Maier-Dobersberger, T.1
Ferenci, P.2
Polli, C.3
Balac, P.4
Dienes, H.P.5
Kaserer, K.6
Datz, C.7
Vogel, W.8
Gangl, A.9
-
39
-
-
0032577524
-
Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae
-
(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
-
40
-
-
0030949874
-
ER quality control: The cytoplasmic connection
-
(1997)
Cell
, vol.88
, pp. 427-430
-
-
Kopito, R.R.1
-
50
-
-
0033145510
-
Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport
-
(1999)
Nature Cell Biol
, vol.1
, pp. 113-118
-
-
Kobayashi, T.1
Beuchat, M.H.2
Lindsay, M.3
Frias, S.4
Palmiter, R.D.5
Sakuraba, H.6
Parton, R.G.7
Gruenberg, J.8
-
54
-
-
0014336231
-
Mitochondrial and fatty changes in hepatocytes of patients with Wilson's disease
-
(1968)
Gastroenterology
, vol.55
, pp. 354-367
-
-
Sternlieb, I.1
|