-
1
-
-
33144456592
-
Hemochromatosis: genetics and pathophysiology
-
Beutler E. Hemochromatosis: genetics and pathophysiology. Annu. Rev. Med. 57 (2006) 331-347
-
(2006)
Annu. Rev. Med.
, vol.57
, pp. 331-347
-
-
Beutler, E.1
-
2
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder J.N., Penny D.M., Irrinki A., Lee V.K., Lebrón J.A., Watson N., Tsuchihashi Z., Sigal E., Bjorkman P.J., and Schatzman R.C. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 1472-1477
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 1472-1477
-
-
Feder, J.N.1
Penny, D.M.2
Irrinki, A.3
Lee, V.K.4
Lebrón, J.A.5
Watson, N.6
Tsuchihashi, Z.7
Sigal, E.8
Bjorkman, P.J.9
Schatzman, R.C.10
-
3
-
-
15244342393
-
The hereditary hemochromatosis protein, HFE, lowers intracellular iron levels independently of transferrin receptor 1 in TRVb cells
-
Carlson H., Zhang A.-S., Fleming W.H., and Enns C.A. The hereditary hemochromatosis protein, HFE, lowers intracellular iron levels independently of transferrin receptor 1 in TRVb cells. Blood 105 (2005) 2564-2570
-
(2005)
Blood
, vol.105
, pp. 2564-2570
-
-
Carlson, H.1
Zhang, A.-S.2
Fleming, W.H.3
Enns, C.A.4
-
4
-
-
4444226451
-
Nontransferrin-bound iron uptake by hepatocytes is increased in the Hfe knockout mouse model of hereditary hemochromatosis
-
Chua A.C., Olynyk J.K., Leedman P.J., and Trinder D. Nontransferrin-bound iron uptake by hepatocytes is increased in the Hfe knockout mouse model of hereditary hemochromatosis. Blood 104 (2004) 1519-1525
-
(2004)
Blood
, vol.104
, pp. 1519-1525
-
-
Chua, A.C.1
Olynyk, J.K.2
Leedman, P.J.3
Trinder, D.4
-
5
-
-
33749393565
-
Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing
-
Goswami T., and Andrews N.C. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J. Biol. Chem. 281 (2006) 28494-28498
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 28494-28498
-
-
Goswami, T.1
Andrews, N.C.2
-
7
-
-
0037132786
-
Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E., Felitti V.J., Koziol J.A., Ho N.J., and Gelbart T. Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359 (2002) 211-218
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
8
-
-
0030732164
-
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
-
Waheed A., Parkkila S., Zhou X.Y., Tomatsu S., Tsuchihashi Z., Feder J.N., Schatzman R.C., Britton R.S., Bacon B.R., and Sly W.S. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc. Natl. Acad. Sci. U. S. A. 94 (1997) 12384-12389
-
(1997)
Proc. Natl. Acad. Sci. U. S. A.
, vol.94
, pp. 12384-12389
-
-
Waheed, A.1
Parkkila, S.2
Zhou, X.Y.3
Tomatsu, S.4
Tsuchihashi, Z.5
Feder, J.N.6
Schatzman, R.C.7
Britton, R.S.8
Bacon, B.R.9
Sly, W.S.10
-
9
-
-
34248522827
-
Overexpression of HFE in HepG2 cells reveals differences in intracellular distribution and co-localization of wt- and mutated forms
-
Pinto J.P., Ramos P., and de Sousa M. Overexpression of HFE in HepG2 cells reveals differences in intracellular distribution and co-localization of wt- and mutated forms. Blood cells mol. diseases 39 (2007) 75-81
-
(2007)
Blood cells mol. diseases
, vol.39
, pp. 75-81
-
-
Pinto, J.P.1
Ramos, P.2
de Sousa, M.3
-
10
-
-
33947220268
-
Stimulation of an unfolded protein response impairs MHC class I expression
-
de Almeida S.F., Fleming J.V., Azevedo J.E., Carmo-Fonseca M., and de Sousa M. Stimulation of an unfolded protein response impairs MHC class I expression. J. Immunol. 178 (2007) 3612-3619
-
(2007)
J. Immunol.
, vol.178
, pp. 3612-3619
-
-
de Almeida, S.F.1
Fleming, J.V.2
Azevedo, J.E.3
Carmo-Fonseca, M.4
de Sousa, M.5
-
11
-
-
26444442450
-
Endoplasmic reticulum stress: cell life and death decisions
-
Xu C., Bailly-Maitre B., and Reed J.C. Endoplasmic reticulum stress: cell life and death decisions. J. Clin. Invest. 115 (2005) 2656-2664
-
(2005)
J. Clin. Invest.
, vol.115
, pp. 2656-2664
-
-
Xu, C.1
Bailly-Maitre, B.2
Reed, J.C.3
-
12
-
-
0034907531
-
Iron-induced oxidative stress up-regulates calreticulin levels in intestinal epithelial (Caco-2) cells
-
Nunez M.T., Osorio A., Tapia V., Vergara A., and Mura C.V. Iron-induced oxidative stress up-regulates calreticulin levels in intestinal epithelial (Caco-2) cells. J. Cell. Biochem. 82 (2001) 660-665
-
(2001)
J. Cell. Biochem.
, vol.82
, pp. 660-665
-
-
Nunez, M.T.1
Osorio, A.2
Tapia, V.3
Vergara, A.4
Mura, C.V.5
-
13
-
-
1842523082
-
Cytoprotection following endoplasmic reticulum stress protein induction in continuous cell lines
-
Bedard K., MacDonald N., Collins J., and Cribb A. Cytoprotection following endoplasmic reticulum stress protein induction in continuous cell lines. Basic Clin. Pharmacol. Toxicol. 94 (2004) 124-131
-
(2004)
Basic Clin. Pharmacol. Toxicol.
, vol.94
, pp. 124-131
-
-
Bedard, K.1
MacDonald, N.2
Collins, J.3
Cribb, A.4
-
14
-
-
0030765016
-
2+ disturbances, and cell death in renal epithelial cells
-
2+ disturbances, and cell death in renal epithelial cells. J. Biol. Chem. 272 (1997) 21751-21759
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 21751-21759
-
-
Liu, H.1
Bowes III, R.C.2
van de Water, B.3
Sillence, C.4
Nagelkerke, J.F.5
Stevens, J.L.6
-
15
-
-
0033015485
-
The endoplasmic reticulum stress-responsive protein GRP78 protects neurons against excitotoxicity and apoptosis: suppression of oxidative stress and stabilization of calcium homeostasis
-
Yu Z., Luo H., Fu W., and Mattson M.P. The endoplasmic reticulum stress-responsive protein GRP78 protects neurons against excitotoxicity and apoptosis: suppression of oxidative stress and stabilization of calcium homeostasis. Exp. Neurol. 155 (1999) 302-314
-
(1999)
Exp. Neurol.
, vol.155
, pp. 302-314
-
-
Yu, Z.1
Luo, H.2
Fu, W.3
Mattson, M.P.4
-
16
-
-
0036169941
-
Assembly and antigen-presenting function of MHC class I molecules in cells lacking the ER chaperone calreticulin
-
Gao B., Adhikari R., Howarth M., Nakamura K., Gold M.C., Hill A.B., Knee R., Michalak M., and Elliott T. Assembly and antigen-presenting function of MHC class I molecules in cells lacking the ER chaperone calreticulin. Immunity 16 (2002) 99-109
-
(2002)
Immunity
, vol.16
, pp. 99-109
-
-
Gao, B.1
Adhikari, R.2
Howarth, M.3
Nakamura, K.4
Gold, M.C.5
Hill, A.B.6
Knee, R.7
Michalak, M.8
Elliott, T.9
-
18
-
-
0036381371
-
Iron and carcinogenesis: from Fenton reaction to target genes
-
Toyokuni S. Iron and carcinogenesis: from Fenton reaction to target genes. Redox Rep. 7 (2002) 189-197
-
(2002)
Redox Rep.
, vol.7
, pp. 189-197
-
-
Toyokuni, S.1
-
19
-
-
0035937721
-
Identification of ERSE-II, a new cis-acting element responsible for the ATF6-dependent mammalian unfolded protein response
-
Kokame K., Kato H., and Miyata T. Identification of ERSE-II, a new cis-acting element responsible for the ATF6-dependent mammalian unfolded protein response. J. Biol. Chem. 276 (2001) 9199-9205
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 9199-9205
-
-
Kokame, K.1
Kato, H.2
Miyata, T.3
-
20
-
-
10044241545
-
Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation
-
Mura C., le Gac G., Jacolot S., and Ferec C. Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation. FASEB J. 18 (2004) 1922-1924
-
(2004)
FASEB J.
, vol.18
, pp. 1922-1924
-
-
Mura, C.1
le Gac, G.2
Jacolot, S.3
Ferec, C.4
-
21
-
-
0032866573
-
Overexpression of the hereditary hemochromatosis protein, HFE, in HeLa cells induces an iron-deficient phenotype
-
Corsi B., Levi S., Cozzi A., Corti A., Altimare D., Albertini A., and Arosio P. Overexpression of the hereditary hemochromatosis protein, HFE, in HeLa cells induces an iron-deficient phenotype. FEBS Lett. 460 (1999) 149-152
-
(1999)
FEBS Lett.
, vol.460
, pp. 149-152
-
-
Corsi, B.1
Levi, S.2
Cozzi, A.3
Corti, A.4
Altimare, D.5
Albertini, A.6
Arosio, P.7
-
22
-
-
0032478524
-
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
-
Lebrón J.A., Bennett M.J., Vaughn D.E., Chirino A.J., Snow P.M., Mintier G.A., Feder J.N., and Bjorkman P.J. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93 (1998) 111-123
-
(1998)
Cell
, vol.93
, pp. 111-123
-
-
Lebrón, J.A.1
Bennett, M.J.2
Vaughn, D.E.3
Chirino, A.J.4
Snow, P.M.5
Mintier, G.A.6
Feder, J.N.7
Bjorkman, P.J.8
-
23
-
-
0032555601
-
Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation
-
Gross C.N., Irrinki A., Feder J.N., and Enns C.A. Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation. J. Biol. Chem. 273 (1998) 22068-22074
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 22068-22074
-
-
Gross, C.N.1
Irrinki, A.2
Feder, J.N.3
Enns, C.A.4
-
24
-
-
33745808734
-
Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis
-
Enns C.A. Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis. Biol. Res. 39 (2006) 105-111
-
(2006)
Biol. Res.
, vol.39
, pp. 105-111
-
-
Enns, C.A.1
-
25
-
-
0037460697
-
Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
-
Bridle K.R., Frazer D.M., Wilkins S.J., Dixon J.L., Purdie D.M., Crawford D.H., Subramaniam V.N., Powell L.W., Anderson G.J., and Ramm G.A. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 361 (2003) 669-673
-
(2003)
Lancet
, vol.361
, pp. 669-673
-
-
Bridle, K.R.1
Frazer, D.M.2
Wilkins, S.J.3
Dixon, J.L.4
Purdie, D.M.5
Crawford, D.H.6
Subramaniam, V.N.7
Powell, L.W.8
Anderson, G.J.9
Ramm, G.A.10
-
26
-
-
24344462594
-
Iron stores modulate hepatic hepcidin expression by an HFE-independent pathway
-
Gehrke S.G., Herrmann T., Kulaksiz H., Merle U., Bents K., Kaiser I., Riedel H.D., and Stremmel W. Iron stores modulate hepatic hepcidin expression by an HFE-independent pathway. Digestion 72 (2005) 25-32
-
(2005)
Digestion
, vol.72
, pp. 25-32
-
-
Gehrke, S.G.1
Herrmann, T.2
Kulaksiz, H.3
Merle, U.4
Bents, K.5
Kaiser, I.6
Riedel, H.D.7
Stremmel, W.8
-
27
-
-
0038312385
-
Decreased liver hepcidin expression in the Hfe knockout mouse
-
Ahmad K.A., Ahmann J.R., Migas M.C., Waheed A., Britton R.S., and Bacon B.R. Decreased liver hepcidin expression in the Hfe knockout mouse. Blood cells mol. diseases 29 (2002) 361-366
-
(2002)
Blood cells mol. diseases
, vol.29
, pp. 361-366
-
-
Ahmad, K.A.1
Ahmann, J.R.2
Migas, M.C.3
Waheed, A.4
Britton, R.S.5
Bacon, B.R.6
-
28
-
-
33745767741
-
Distinct requirements for Hfe in basal and induced hepcidin levels in iron overload and inflammation
-
Constante M., Jiang W., Wang D., Raymond V.A., Bilodeau M., and Santos M.M. Distinct requirements for Hfe in basal and induced hepcidin levels in iron overload and inflammation. Am. J. Physiol., Endocrinol Metabol. Gastrointest. Physiol. 291 (2006) G229-G237
-
(2006)
Am. J. Physiol., Endocrinol Metabol. Gastrointest. Physiol.
, vol.291
-
-
Constante, M.1
Jiang, W.2
Wang, D.3
Raymond, V.A.4
Bilodeau, M.5
Santos, M.M.6
-
29
-
-
23944438373
-
Cellular functions of endoplasmic reticulum chaperones calreticulin, calnexin, and ERp57
-
Bedard K., Szabo E., Michalak M., and Opas M. Cellular functions of endoplasmic reticulum chaperones calreticulin, calnexin, and ERp57. Int. Rev. Cyt. 245 (2005) 91-121
-
(2005)
Int. Rev. Cyt.
, vol.245
, pp. 91-121
-
-
Bedard, K.1
Szabo, E.2
Michalak, M.3
Opas, M.4
-
31
-
-
16244405250
-
Hepatitis C virus, ER stress, and oxidative stress
-
Tardif K.D., Waris G., and Siddiqui A. Hepatitis C virus, ER stress, and oxidative stress. Trends Microbiol. 13 (2005) 159-163
-
(2005)
Trends Microbiol.
, vol.13
, pp. 159-163
-
-
Tardif, K.D.1
Waris, G.2
Siddiqui, A.3
-
32
-
-
33645459044
-
Biomarkers of oxidative damage in human disease
-
Dalle-Donne I., Rossi R., Colombo R., Giustarini D., and Milzani A. Biomarkers of oxidative damage in human disease. Clin. Chem. 52 (2006) 601-623
-
(2006)
Clin. Chem.
, vol.52
, pp. 601-623
-
-
Dalle-Donne, I.1
Rossi, R.2
Colombo, R.3
Giustarini, D.4
Milzani, A.5
-
33
-
-
0034083227
-
Role of oxidative stress in cardiovascular diseases
-
Dhalla N.S., Temsah R.M., and Netticadan T. Role of oxidative stress in cardiovascular diseases. J. Hypertens 18 (2000) 655-673
-
(2000)
J. Hypertens
, vol.18
, pp. 655-673
-
-
Dhalla, N.S.1
Temsah, R.M.2
Netticadan, T.3
-
34
-
-
0037378026
-
Oxidative stress in Parkinson's disease
-
Jenner P. Oxidative stress in Parkinson's disease. Ann. Neurol. 53 (2003) S26-S36
-
(2003)
Ann. Neurol.
, vol.53
-
-
Jenner, P.1
-
35
-
-
0035003439
-
Chemistry and biochemistry of oxidative stress in neurodegenerative disease
-
Sayre L.M., Smith M.A., and Perry G. Chemistry and biochemistry of oxidative stress in neurodegenerative disease. Curr. Med. Chem. 8 (2001) 721-738
-
(2001)
Curr. Med. Chem.
, vol.8
, pp. 721-738
-
-
Sayre, L.M.1
Smith, M.A.2
Perry, G.3
-
36
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., Dormishian F., Domingo R., Ellis M.C., Fullan A., Hinton L.M., Jones N.L., Kimmel B.E., Kronmal G.S., Lauer P., Lee V.K., Loeb D.B., Mapa F.A., McClelland E., Meyer N.C., Mintier G.A., Moeller N., Moore T., Morikang E., Prass C.E., Quintana L., Starnes S.M., Schatzman R.C., Brunke K.J., Drayna D.T., Risch N.J., Bacon B.R., and Wolff R.K. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13 (1996) 399-408
-
(1996)
Nat. Genet.
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
Dormishian, F.7
Domingo, R.8
Ellis, M.C.9
Fullan, A.10
Hinton, L.M.11
Jones, N.L.12
Kimmel, B.E.13
Kronmal, G.S.14
Lauer, P.15
Lee, V.K.16
Loeb, D.B.17
Mapa, F.A.18
McClelland, E.19
Meyer, N.C.20
Mintier, G.A.21
Moeller, N.22
Moore, T.23
Morikang, E.24
Prass, C.E.25
Quintana, L.26
Starnes, S.M.27
Schatzman, R.C.28
Brunke, K.J.29
Drayna, D.T.30
Risch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
37
-
-
17644434333
-
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
-
Feder J.N., Tsuchihashi Z., Irrinki A., Lee V.K., Mapa F.A., Morikang E., Prass C.E., Starnes S.M., Wolff R.K., Parkkila S., Sly W.S., and Schatzman R.C. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J. Biol. Chem. 272 (1997) 14025-14028
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 14025-14028
-
-
Feder, J.N.1
Tsuchihashi, Z.2
Irrinki, A.3
Lee, V.K.4
Mapa, F.A.5
Morikang, E.6
Prass, C.E.7
Starnes, S.M.8
Wolff, R.K.9
Parkkila, S.10
Sly, W.S.11
Schatzman, R.C.12
-
38
-
-
0031002910
-
Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
-
Parkkila S., Waheed A., Britton R.S., Feder J.N., Tsuchihashi Z., Schatzman R.C., Bacon B.R., and Sly W.S. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc. Natl. Acad. Sci. U. S. A. 94 (1997) 2534-2539
-
(1997)
Proc. Natl. Acad. Sci. U. S. A.
, vol.94
, pp. 2534-2539
-
-
Parkkila, S.1
Waheed, A.2
Britton, R.S.3
Feder, J.N.4
Tsuchihashi, Z.5
Schatzman, R.C.6
Bacon, B.R.7
Sly, W.S.8
-
39
-
-
33751069967
-
Adaptation to ER stress is mediated by differential stabilities of pro-survival and pro-apoptotic mRNAs and proteins
-
Rutkowski D.T., Arnold S.M., Miller C.N., Wu J., Li J., Gunnison K.M., Mori K., Sadighi Akha A.A., Raden D., and Kaufman R.J. Adaptation to ER stress is mediated by differential stabilities of pro-survival and pro-apoptotic mRNAs and proteins. PLoS Biol. 4 (2006) e374
-
(2006)
PLoS Biol.
, vol.4
-
-
Rutkowski, D.T.1
Arnold, S.M.2
Miller, C.N.3
Wu, J.4
Li, J.5
Gunnison, K.M.6
Mori, K.7
Sadighi Akha, A.A.8
Raden, D.9
Kaufman, R.J.10
-
40
-
-
0034118022
-
Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes
-
Parkkila S., Parkkila A.K., Waheed A., Britton R.S., Zhou X.Y., Fleming R.E., Tomatsu S., Bacon B.R., and Sly W.S. Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes. Haematologica 85 (2000) 340-345
-
(2000)
Haematologica
, vol.85
, pp. 340-345
-
-
Parkkila, S.1
Parkkila, A.K.2
Waheed, A.3
Britton, R.S.4
Zhou, X.Y.5
Fleming, R.E.6
Tomatsu, S.7
Bacon, B.R.8
Sly, W.S.9
|