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Volumn 41, Issue 11, 2009, Pages 2094-2097

Hemochromatosis: As a conformational disorder

Author keywords

Conformational disease; Endoplasmic reticulum stress; Hemochromatosis; Iron

Indexed keywords

4 PHENYLBUTYRIC ACID; BETA 2 MICROGLOBULIN; CYSTEINE; HEMOJUVELIN; HEPCIDIN; HFE PROTEIN; TAUROURSODEOXYCHOLIC ACID; TRANSFERRIN RECEPTOR 2; TYROSINE;

EID: 70349432268     PISSN: 13572725     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biocel.2009.04.006     Document Type: Short Survey
Times cited : (13)

References (20)
  • 1
    • 0036800649 scopus 로고    scopus 로고
    • Hereditary hemochromatosis
    • Ajioka R.S., and Kushner J.P. Hereditary hemochromatosis. Semin Hematol 39 4 (2002) 235-241
    • (2002) Semin Hematol , vol.39 , Issue.4 , pp. 235-241
    • Ajioka, R.S.1    Kushner, J.P.2
  • 3
    • 0346727128 scopus 로고    scopus 로고
    • Therapeutic approaches to protein-misfolding diseases
    • Cohen F.E., and Kelly J.W. Therapeutic approaches to protein-misfolding diseases. Nature 426 6968 (2003) 905-909
    • (2003) Nature , vol.426 , Issue.6968 , pp. 905-909
    • Cohen, F.E.1    Kelly, J.W.2
  • 4
    • 33947220268 scopus 로고    scopus 로고
    • 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 6 (2007) 3612-3619
    • (2007) J Immunol , vol.178 , Issue.6 , pp. 3612-3619
    • de Almeida, S.F.1    Fleming, J.V.2    Azevedo, J.E.3    Carmo-Fonseca, M.4    de Sousa, M.5
  • 5
    • 34948859111 scopus 로고    scopus 로고
    • Chemical chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation
    • de Ameida S.F., Picarote, Fleming J.V., Carmo-Fonseca M., Azevedo J.E., and de Sousa M. Chemical chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation. J Biol Chem 282 38 (2007) 27905-27912
    • (2007) J Biol Chem , vol.282 , Issue.38 , pp. 27905-27912
    • de Ameida, S.F.1    Picarote2    Fleming, J.V.3    Carmo-Fonseca, M.4    Azevedo, J.E.5    de Sousa, M.6
  • 6
    • 33745808734 scopus 로고    scopus 로고
    • 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 1 (2006) 105-111
    • (2006) Biol Res , vol.39 , Issue.1 , pp. 105-111
    • Enns, C.A.1
  • 7
    • 9344224529 scopus 로고    scopus 로고
    • 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., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13 4 (1996) 399-408
    • (1996) Nat Genet , vol.13 , Issue.4 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 8
    • 17644434333 scopus 로고    scopus 로고
    • 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., et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem 272 22 (1997) 14025-14028
    • (1997) J Biol Chem , vol.272 , Issue.22 , pp. 14025-14028
    • Feder, J.N.1    Tsuchihashi, Z.2    Irrinki, A.3    Lee, V.K.4    Mapa, F.A.5    Morikang, E.6
  • 9
    • 34250337398 scopus 로고    scopus 로고
    • Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtIIV, a murine model fro osteogenesis imperfecta
    • Forlino A., Tani C., Rossi A., Lupi A., Campari E., Gualeni B., Bianchi L., Armini A., Cetta G., Bini L., and Marini J.C. Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtIIV, a murine model fro osteogenesis imperfecta. Proteomics 7 11 (2006) 1877-1891
    • (2006) Proteomics , vol.7 , Issue.11 , pp. 1877-1891
    • Forlino, A.1    Tani, C.2    Rossi, A.3    Lupi, A.4    Campari, E.5    Gualeni, B.6    Bianchi, L.7    Armini, A.8    Cetta, G.9    Bini, L.10    Marini, J.C.11
  • 10
    • 34547964642 scopus 로고    scopus 로고
    • Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses
    • Lawless M.W., Mankan A.K., White M., O'Dwyer M.J., and Norris S. Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses. BMC Cell Biol 8 (2007) 30
    • (2007) BMC Cell Biol , vol.8 , pp. 30
    • Lawless, M.W.1    Mankan, A.K.2    White, M.3    O'Dwyer, M.J.4    Norris, S.5
  • 11
    • 13844275950 scopus 로고    scopus 로고
    • Regulation of Hfe by stress factors in BV-2 cells
    • Lee S.Y., and Connor J.R. Regulation of Hfe by stress factors in BV-2 cells. Neurobiol Aging 26 (2005) 803-812
    • (2005) Neurobiol Aging , vol.26 , pp. 803-812
    • Lee, S.Y.1    Connor, J.R.2
  • 13
    • 34447558581 scopus 로고    scopus 로고
    • Proteomic analysis of hepatic iron overload in mice suggests dysregulation of urea cycle, impairment of fatty acid oxidation and changes in the methylation cycle
    • Petral J., Myslivcova D., Man P., Cmejla R., Cmejlova J., Vyoral D., Elleder M., and Vulpe C.D. Proteomic analysis of hepatic iron overload in mice suggests dysregulation of urea cycle, impairment of fatty acid oxidation and changes in the methylation cycle. Am J Physiol Gastrointest Liver Physiol 294 (2007) 1490-1498
    • (2007) Am J Physiol Gastrointest Liver Physiol , vol.294 , pp. 1490-1498
    • Petral, J.1    Myslivcova, D.2    Man, P.3    Cmejla, R.4    Cmejlova, J.5    Vyoral, D.6    Elleder, M.7    Vulpe, C.D.8
  • 14
    • 0041808770 scopus 로고    scopus 로고
    • Mechanism of iron toxicity
    • Pietrangelo A. Mechanism of iron toxicity. Adv Exp Med Biol 509 (2002) 19-43
    • (2002) Adv Exp Med Biol , vol.509 , pp. 19-43
    • Pietrangelo, A.1
  • 15
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis-a new look at an old disease
    • Pietrangelo A. Hereditary hemochromatosis-a new look at an old disease. N Engl J Med 350 23 (2004) 2383-2397
    • (2004) N Engl J Med , vol.350 , Issue.23 , pp. 2383-2397
    • Pietrangelo, A.1
  • 16
    • 35348827324 scopus 로고    scopus 로고
    • That which does not kill me makes me stronger: adapting to chronic ER stress
    • Rutkowski D.T., and Kaufman R.J. That which does not kill me makes me stronger: adapting to chronic ER stress. Trends Biochem Sci. 32 October (10) (2007) 469-476
    • (2007) Trends Biochem Sci. , vol.32 , Issue.October 10 , pp. 469-476
    • Rutkowski, D.T.1    Kaufman, R.J.2
  • 18
    • 0031879555 scopus 로고    scopus 로고
    • Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation
    • Shaheen N.J., Bacon B.R., and Grimm I.S. Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation. Hepatology 28 2 (1998) 526-529
    • (1998) Hepatology , vol.28 , Issue.2 , pp. 526-529
    • Shaheen, N.J.1    Bacon, B.R.2    Grimm, I.S.3
  • 19
    • 0030732164 scopus 로고    scopus 로고
    • 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., et al. 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 23 (1997) 12384-12389
    • (1997) Proc Natl Acad Sci U S A , vol.94 , Issue.23 , pp. 12384-12389
    • Waheed, A.1    Parkkila, S.2    Zhou, X.Y.3    Tomatsu, S.4    Tsuchihashi, Z.5    Feder, J.N.6
  • 20
    • 33646732642 scopus 로고    scopus 로고
    • Nitrogen monoxide (NO)-mediated iron release from cells is linked to NO-induced glutathione efflux via multidrug resistance-associated protein 1
    • Watts R.N., Hawkins C., Ponka P., and Richardson D.R. Nitrogen monoxide (NO)-mediated iron release from cells is linked to NO-induced glutathione efflux via multidrug resistance-associated protein 1. Proc Natl Acad Sci U S A 103 (2006) 7670-7675
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 7670-7675
    • Watts, R.N.1    Hawkins, C.2    Ponka, P.3    Richardson, D.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.