-
1
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995;9:210-217.
-
(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
-
2
-
-
0027431996
-
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
-
Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun. 1993;197:271-277.
-
(1993)
Biochem Biophys Res Commun
, vol.197
, pp. 271-277
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Gitlin, J.D.3
-
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. 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
-
4
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993;5:344-350.
-
(1993)
Nat Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
-
5
-
-
0030467256
-
Biochemical characterization and intracellular localization of the Menkes disease protein
-
Yamaguchi Y, Heiny ME, Suzuki M, Gitlin JD. Biochemical characterization and intracellular localization of the Menkes disease protein. Proc Natl Acad Sci USA. 1996;93:14030-14035.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 14030-14035
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Suzuki, M.3
Gitlin, J.D.4
-
6
-
-
0022253955
-
Menkes' kinky hair disease: Clinical and experimental study
-
Watanabe I, Watanabe Y, Motomura E, Nishimura M, Yazaki M. Menkes' kinky hair disease: clinical and experimental study. Doc Ophthalmol. 1985;60:173-181.
-
(1985)
Doc Ophthalmol
, vol.60
, pp. 173-181
-
-
Watanabe, I.1
Watanabe, Y.2
Motomura, E.3
Nishimura, M.4
Yazaki, M.5
-
7
-
-
0032875387
-
Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux
-
Harris ZL, Durley AP, Man TK, Gitlin JD. Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux. Proc Natl Acad Sci USA. 1999;96:10812-10817.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 10812-10817
-
-
Harris, Z.L.1
Durley, A.P.2
Man, T.K.3
Gitlin, J.D.4
-
8
-
-
0030803730
-
Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae
-
Hung IH, Suzuki M, Yamaguchi Y, Yuan DS, Klausner RD, Gitlin JD. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae. J Biol Chem. 1997;272:21461-1466.
-
(1997)
J Biol Chem
, vol.272
, pp. 21461-21466
-
-
Hung, I.H.1
Suzuki, M.2
Yamaguchi, Y.3
Yuan, D.S.4
Klausner, R.D.5
Gitlin, J.D.6
-
9
-
-
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, Lockhart P, Gleeson PA, Camakaris J. 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;15:6084-6095.
-
(1996)
EMBO J
, vol.15
, pp. 6084-6095
-
-
Petris, M.J.1
Mercer, J.F.2
Culvenor, J.G.3
Lockhart, P.4
Gleeson, P.A.5
Camakaris, J.6
-
10
-
-
0027968802
-
Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels
-
Paynter JA, Grimes A, Lockhart P, Mercer JF. Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels. FEBS Lett. 1994;351:186-190.
-
(1994)
FEBS Lett
, vol.351
, pp. 186-190
-
-
Paynter, J.A.1
Grimes, A.2
Lockhart, P.3
Mercer, J.F.4
-
11
-
-
0031829282
-
Copper efflux from murine microvascular cells requires expression of the Menkes disease Cu-ATPase
-
Qian Y, Tiffany-Castiglioni E, Welsh J, Harris ED. Copper efflux from murine microvascular cells requires expression of the Menkes disease Cu-ATPase. J Nutr. 1998;128:1276-1282.
-
(1998)
J Nutr
, vol.128
, pp. 1276-1282
-
-
Qian, Y.1
Tiffany-Castiglioni, E.2
Welsh, J.3
Harris, E.D.4
-
12
-
-
0037802583
-
Function and regulation of the mammalian copper-transporting ATPases: Insights from biochemical and cell biological approaches
-
Lutsenko S, Petris MJ. Function and regulation of the mammalian copper-transporting ATPases: insights from biochemical and cell biological approaches. J Membr Biol. 2003;191:1-12.
-
(2003)
J Membr Biol
, vol.191
, pp. 1-12
-
-
Lutsenko, S.1
Petris, M.J.2
-
13
-
-
0018904864
-
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants
-
Camakaris J, Danks DM, Ackland L, Cartwright E, Borger P, Cotton RG. Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants. Biochem Genet. 1980;18:117-131.
-
(1980)
Biochem Genet
, vol.18
, pp. 117-131
-
-
Camakaris, J.1
Danks, D.M.2
Ackland, L.3
Cartwright, E.4
Borger, P.5
Cotton, R.G.6
-
14
-
-
0033081767
-
A novel pineal night-specific ATPase encoded by the Wilson disease gene
-
Borjigin J, Payne AS, Deng J, et al. A novel pineal night-specific ATPase encoded by the Wilson disease gene. J Neurosci. 1999;19:1018-1026.
-
(1999)
J Neurosci
, vol.19
, pp. 1018-1026
-
-
Borjigin, J.1
Payne, A.S.2
Deng, J.3
-
15
-
-
12144257164
-
NMDA receptor activation mediates copper homeostasis in hippocampal neurons
-
Schlief ML, Craig AM, Gitlin JD. NMDA receptor activation mediates copper homeostasis in hippocampal neurons. J Neurosci. 2005;25:239-246.
-
(2005)
J Neurosci
, vol.25
, pp. 239-246
-
-
Schlief, M.L.1
Craig, A.M.2
Gitlin, J.D.3
-
16
-
-
15744392287
-
The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum
-
Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005;280:9640-9645.
-
(2005)
J Biol Chem
, vol.280
, pp. 9640-9645
-
-
Barnes, N.1
Tsivkovskii, R.2
Tsivkovskaia, N.3
Lutsenko, S.4
-
17
-
-
0017239970
-
Menkes' kinky hair disease: A light and electron microscopic study of the eye
-
Wray SH, Kuwabara T, Sanderson P. Menkes' kinky hair disease: a light and electron microscopic study of the eye. Invest Ophthalmol. 1976;15:128-138.
-
(1976)
Invest Ophthalmol
, vol.15
, pp. 128-138
-
-
Wray, S.H.1
Kuwabara, T.2
Sanderson, P.3
-
19
-
-
0034192938
-
Visual pathway abnormalities Wilson's disease: An electrophysiological study using electroretinography and visual evoked potentials
-
Satishchandra P, Ravishankar Naik K. Visual pathway abnormalities Wilson's disease: an electrophysiological study using electroretinography and visual evoked potentials. J Neurol Sci. 2000;176:13-20.
-
(2000)
J Neurol Sci
, vol.176
, pp. 13-20
-
-
Satishchandra, P.1
Ravishankar Naik, K.2
-
20
-
-
0025852186
-
Retinal changes in Wilson's disease]
-
Rossa V. [Retinal changes in Wilson's disease]. Fortschr Ophthalmol. 1991;88:230-232.
-
(1991)
Fortschr Ophthalmol
, vol.88
, pp. 230-232
-
-
Rossa, V.1
-
21
-
-
0029872876
-
ARPE-19, a human retinal pigment epithelial cell line with differentiated properties
-
Dunn KC, Aotaki-Keen AE, Putkey FR, Hjelmeland LM. ARPE-19, a human retinal pigment epithelial cell line with differentiated properties. Exp Eye Res. 1996;62:155-169.
-
(1996)
Exp Eye Res
, vol.62
, pp. 155-169
-
-
Dunn, K.C.1
Aotaki-Keen, A.E.2
Putkey, F.R.3
Hjelmeland, L.M.4
-
22
-
-
0037409990
-
A mutation in the ATP7B copper transporter causes reduced dopamine beta-hydroxylase and norepinephrine in mouse adrenal
-
Gerbasi V, Lutsenko S, Lewis EJ. A mutation in the ATP7B copper transporter causes reduced dopamine beta-hydroxylase and norepinephrine in mouse adrenal. Neurochem Res. 2003;28:867-873.
-
(2003)
Neurochem Res
, vol.28
, pp. 867-873
-
-
Gerbasi, V.1
Lutsenko, S.2
Lewis, E.J.3
-
24
-
-
0041560975
-
Maculas affected by age-related macular degeneration contain increased chelatable iron in the retinal pigment epithelium and Bruch's membrane
-
Hahn P, Milam AH, Dunaief JL. Maculas affected by age-related macular degeneration contain increased chelatable iron in the retinal pigment epithelium and Bruch's membrane. Arch Ophthalmol. 2003;121:1099-1105.
-
(2003)
Arch Ophthalmol
, vol.121
, pp. 1099-1105
-
-
Hahn, P.1
Milam, A.H.2
Dunaief, J.L.3
-
25
-
-
0032920935
-
Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver
-
Schaefer M, Hopkins RG, Failla ML, Gitlin JD. Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver. Am J Physiol. 1999;276:G639-G646.
-
(1999)
Am J Physiol
, vol.276
-
-
Schaefer, M.1
Hopkins, R.G.2
Failla, M.L.3
Gitlin, J.D.4
-
26
-
-
0029134884
-
Cellular copper transport
-
Vulpe CD, Packman S. Cellular copper transport. Annu Rev Nutr. 1995;15:293-322.
-
(1995)
Annu Rev Nutr
, vol.15
, pp. 293-322
-
-
Vulpe, C.D.1
Packman, S.2
-
27
-
-
31544454133
-
Copper transport protein (Ctr1) levels in mice are tissue specific and dependent on copper status
-
Kuo YM, Gybina AA, Pyatskowit JW, Gitschier J, Prohaska JR. Copper transport protein (Ctr1) levels in mice are tissue specific and dependent on copper status. J Nutr. 2006;136:21-26.
-
(2006)
J Nutr
, vol.136
, pp. 21-26
-
-
Kuo, Y.M.1
Gybina, A.A.2
Pyatskowit, J.W.3
Gitschier, J.4
Prohaska, J.R.5
-
28
-
-
0032553535
-
Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases
-
La Fontaine SL, Firth SD, Camakaris J, et al. Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. J Biol Chem. 1998;273:31375-31380.
-
(1998)
J Biol Chem
, vol.273
, pp. 31375-31380
-
-
La Fontaine, S.L.1
Firth, S.D.2
Camakaris, J.3
-
29
-
-
0030768062
-
Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease
-
Murata Y, Kodama H, Abe T, et al. Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Pediatr Res. 1997;42:436-442.
-
(1997)
Pediatr Res
, vol.42
, pp. 436-442
-
-
Murata, Y.1
Kodama, H.2
Abe, T.3
-
30
-
-
0033044824
-
X-ray microanalysis of melanin granules of retinal pigment epithelium and choroid in hereditary copper deficient mice (macular mice)
-
Mishima K, Amemiya T, Takano K. X-ray microanalysis of melanin granules of retinal pigment epithelium and choroid in hereditary copper deficient mice (macular mice). Exp Eye Res. 1999;68:59-65.
-
(1999)
Exp Eye Res
, vol.68
, pp. 59-65
-
-
Mishima, K.1
Amemiya, T.2
Takano, K.3
-
31
-
-
4644293303
-
Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration
-
Hahn P, Qian Y, Dentchev T, et al. Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. Proc Natl Acad Sci USA. 2004;101:13850-13855.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 13850-13855
-
-
Hahn, P.1
Qian, Y.2
Dentchev, T.3
-
32
-
-
0029800745
-
Expression of the ceruloplasmin gene in the human retina and brain: Implications for a pathogenic model in aceruloplasminemia
-
Klomp LW, Gitlin JD. Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. Hum Mol Genet. 1996;5:1989-1996.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1989-1996
-
-
Klomp, L.W.1
Gitlin, J.D.2
-
33
-
-
0031964341
-
Expression of ceruloplasmin in the retina: Induction after optic nerve crush
-
Levin LA, Geszvain KM. Expression of ceruloplasmin in the retina: induction after optic nerve crush. Invest Ophthalmol Vis Sci. 1998;39:157-163.
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 157-163
-
-
Levin, L.A.1
Geszvain, K.M.2
-
34
-
-
0038750831
-
Increased expression of ceruloplasmin in the retina following photic injury
-
Chen L, Dentchev T, Wong R, et al. Increased expression of ceruloplasmin in the retina following photic injury. Mol Vis. 2003;9:151-158.
-
(2003)
Mol Vis
, vol.9
, pp. 151-158
-
-
Chen, L.1
Dentchev, T.2
Wong, R.3
-
35
-
-
0034800655
-
A randomized, placebo-controlled clinical trial of highdose supplementation with vitamins C and E, beta carotene and zinc for age-related macular degeneration and vision loss
-
AREDS
-
AREDS. A randomized, placebo-controlled clinical trial of highdose supplementation with vitamins C and E, beta carotene and zinc for age-related macular degeneration and vision loss. Arch Ophthalmol. 2001;119:1417-1436.
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 1417-1436
-
-
|