메뉴 건너뛰기




Volumn 105, Issue 10, 2005, Pages 4096-4102

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; FERROPORTIN 1; IRON; TRANSFERRIN;

EID: 20844462571     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-11-4502     Document Type: Article
Times cited : (185)

References (34)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 2
    • 9144252017 scopus 로고    scopus 로고
    • Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    • Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004;36:77-82.
    • (2004) Nat Genet , vol.36 , pp. 77-82
    • Papanikolaou, G.1    Samuels, M.E.2    Ludwig, E.H.3
  • 3
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003;33:21-22.
    • (2003) Nat Genet , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3
  • 4
    • 0035902605 scopus 로고    scopus 로고
    • Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
    • Nicolas G, Bennoun M, Devaux I, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A. 2001;98:8780-8785.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 8780-8785
    • Nicolas, G.1    Bennoun, M.2    Devaux, I.3
  • 5
    • 0037460697 scopus 로고    scopus 로고
    • Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
    • Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet. 2003;361:669-673.
    • (2003) Lancet , vol.361 , pp. 669-673
    • Bridle, K.R.1    Frazer, D.M.2    Wilkins, S.J.3
  • 7
    • 19944427107 scopus 로고    scopus 로고
    • Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis
    • Kawabata H, Fleming RE, Gui D, et al. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood. 2005;105:376-381.
    • (2005) Blood , vol.105 , pp. 376-381
    • Kawabata, H.1    Fleming, R.E.2    Gui, D.3
  • 8
    • 0034022636 scopus 로고    scopus 로고
    • The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    • Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 2000;25:14-15.
    • (2000) Nat Genet , vol.25 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    Cali, A.3
  • 9
    • 0037111572 scopus 로고    scopus 로고
    • Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum
    • Deaglio S, Capobianco A, Cali A, et al. Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum. Blood. 2002;100:3782-3789.
    • (2002) Blood , vol.100 , pp. 3782-3789
    • Deaglio, S.1    Capobianco, A.2    Cali, A.3
  • 10
    • 0033861745 scopus 로고    scopus 로고
    • A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
    • McKie AT, Marciani P, Rolfs A, et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell. 2000;5:299-309.
    • (2000) Mol Cell , vol.5 , pp. 299-309
    • McKie, A.T.1    Marciani, P.2    Rolfs, A.3
  • 11
    • 0034733635 scopus 로고    scopus 로고
    • A novel mammalian iron-regulated protein involved in intracellular iron metabolism
    • Abboud S, Haile DJ. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem. 2000;275:19906-19912.
    • (2000) J Biol Chem , vol.275 , pp. 19906-19912
    • Abboud, S.1    Haile, D.J.2
  • 12
    • 0034677467 scopus 로고    scopus 로고
    • Positional cloning of zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter
    • Donovan A, Brownlie A, Zhou Y, et al. Positional cloning of zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter. Nature. 2000;403:776-781.
    • (2000) Nature , vol.403 , pp. 776-781
    • Donovan, A.1    Brownlie, A.2    Zhou, Y.3
  • 13
    • 0742272103 scopus 로고    scopus 로고
    • The ferroportin disease
    • Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis. 2004;32:131-138.
    • (2004) Blood Cells Mol Dis , vol.32 , pp. 131-138
    • Pietrangelo, A.1
  • 14
    • 1242295148 scopus 로고    scopus 로고
    • The SLC40 basolateral iron transporter family (IREG1/ferroportin/MTP1)
    • McKie AT, Barlow DJ. The SLC40 basolateral iron transporter family (IREG1/ferroportin/MTP1). Pflugers Arch. 2004;447:801-806.
    • (2004) Pflugers Arch , vol.447 , pp. 801-806
    • McKie, A.T.1    Barlow, D.J.2
  • 15
    • 0038536855 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family
    • Rivard SR, Lanzara C, Grimard D, et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. Haematologica. 2003;88:824-826.
    • (2003) Haematologica , vol.88 , pp. 824-826
    • Rivard, S.R.1    Lanzara, C.2    Grimard, D.3
  • 16
    • 17944380796 scopus 로고    scopus 로고
    • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    • Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 2001;108:619-623.
    • (2001) J Clin Invest , vol.108 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3
  • 17
    • 1642280929 scopus 로고    scopus 로고
    • Autosomal dominant iron overload due to a novel mutation of ferroportin 1 associated with parenchymal iron loading and cirrhosis
    • Wallace DF, Clark RM, Harley HA, Subramaniam VN. Autosomal dominant iron overload due to a novel mutation of ferroportin 1 associated with parenchymal iron loading and cirrhosis. J Hepatol. 2004;40:710-713.
    • (2004) J Hepatol , vol.40 , pp. 710-713
    • Wallace, D.F.1    Clark, R.M.2    Harley, H.A.3    Subramaniam, V.N.4
  • 18
    • 0034930197 scopus 로고    scopus 로고
    • A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
    • Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001;28:213-214.
    • (2001) Nat Genet , vol.28 , pp. 213-214
    • Njajou, O.T.1    Vaessen, N.2    Joosse, M.3
  • 19
    • 0037622887 scopus 로고    scopus 로고
    • A novel mutation in ferroportin 1 is associated with haemochromatosis in a Solomon Islands patient
    • Arden KE, Wallace DF, Dixon JL, et al. A novel mutation in ferroportin 1 is associated with haemochromatosis in a Solomon Islands patient. Gut. 2003;52:1215-1217.
    • (2003) Gut , vol.52 , pp. 1215-1217
    • Arden, K.E.1    Wallace, D.F.2    Dixon, J.L.3
  • 20
    • 0037100383 scopus 로고    scopus 로고
    • A valine deletion of ferroportin 1: A common mutation in hemochromastosis type 4
    • Roetto A, Merryweather-Clarke AT, Daraio F, et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood. 2002;100:733-734.
    • (2002) Blood , vol.100 , pp. 733-734
    • Roetto, A.1    Merryweather-Clarke, A.T.2    Daraio, F.3
  • 21
    • 0037100517 scopus 로고    scopus 로고
    • Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis
    • Wallace DF, Pedersen P, Dixon JL, et al. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood. 2002;100:692-694.
    • (2002) Blood , vol.100 , pp. 692-694
    • Wallace, D.F.1    Pedersen, P.2    Dixon, J.L.3
  • 22
    • 0037100382 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
    • Devalia V, Carter K, Walker AP, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood. 2002;100:695-697.
    • (2002) Blood , vol.100 , pp. 695-697
    • Devalia, V.1    Carter, K.2    Walker, A.P.3
  • 23
    • 10744232713 scopus 로고    scopus 로고
    • Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene
    • Gordeuk VR, Caleffi A, Corradini E, et al. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. Blood Cells Mol Dis. 2003;31:299-304.
    • (2003) Blood Cells Mol Dis , vol.31 , pp. 299-304
    • Gordeuk, V.R.1    Caleffi, A.2    Corradini, E.3
  • 24
    • 0242636419 scopus 로고    scopus 로고
    • Genotypic and phenotypic heterogeneity of African Americans with primary iron overload
    • Barton JC, Acton RT, Rivers CA, et al. Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Blood Cells Mol Dis. 2003;31:310-319.
    • (2003) Blood Cells Mol Dis , vol.31 , pp. 310-319
    • Barton, J.C.1    Acton, R.T.2    Rivers, C.A.3
  • 25
    • 6344237322 scopus 로고    scopus 로고
    • Recent advances in understanding haemochromatosis: A transition state
    • Robson KJ, Merryweather-Clarke AT, Cadet E, et al. Recent advances in understanding haemochromatosis: a transition state. J Med Genet. 2004;41:721-730.
    • (2004) J Med Genet , vol.41 , pp. 721-730
    • Robson, K.J.1    Merryweather-Clarke, A.T.2    Cadet, E.3
  • 26
    • 10744219904 scopus 로고    scopus 로고
    • Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
    • Jouanolle AM, Douabin-Gicquel V, Halimi C, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol. 2003;39:286-289.
    • (2003) J Hepatol , vol.39 , pp. 286-289
    • Jouanolle, A.M.1    Douabin-Gicquel, V.2    Halimi, C.3
  • 27
    • 0037860450 scopus 로고    scopus 로고
    • Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
    • Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood. 2003;102:1904-1910.
    • (2003) Blood , vol.102 , pp. 1904-1910
    • Hetet, G.1    Devaux, I.2    Soufir, N.3    Grandchamp, B.4    Beaumont, C.5
  • 28
    • 0242724153 scopus 로고    scopus 로고
    • Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans
    • Beutler E, Barton JC, Felitti VJ, et al. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells Mol Dis. 2003;31:305-309.
    • (2003) Blood Cells Mol Dis , vol.31 , pp. 305-309
    • Beutler, E.1    Barton, J.C.2    Felitti, V.J.3
  • 29
    • 0033517341 scopus 로고    scopus 로고
    • Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
    • Pietrangelo A, Montosi G, Totaro A, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med. 1999;341:725-732.
    • (1999) N Engl J Med , vol.341 , pp. 725-732
    • Pietrangelo, A.1    Montosi, G.2    Totaro, A.3
  • 30
    • 0034883373 scopus 로고    scopus 로고
    • Ferroportin mutation in autosomal dominant hemochromatosis: Loss of function, gain in understanding
    • Fleming RE, Sly WS. Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding. J Clin Invest. 2001;108:521-522.
    • (2001) J Clin Invest , vol.108 , pp. 521-522
    • Fleming, R.E.1    Sly, W.S.2
  • 31
    • 0037180545 scopus 로고    scopus 로고
    • The hemochromatosis protein HFE inhibits iron export from macrophages
    • Drakesmith H, Sweetland E, Schimanski L, et al. The hemochromatosis protein HFE inhibits iron export from macrophages. Proc Natl Acad Sci U S A. 2002;99:15602-15607.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 15602-15607
    • Drakesmith, H.1    Sweetland, E.2    Schimanski, L.3
  • 32
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E, Tuttle MS, Powelson J, et al. Hepcidin regulates iron efflux by binding to ferroportin and inducing its internalization. Science. 2004;306:2090-2093.
    • (2004) Science , vol.306 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3
  • 33
    • 2942537827 scopus 로고    scopus 로고
    • Expression of the hereditary hemochromatosis protein HFE increases ferritin levels by inhibiting iron export in HT29 cells
    • Davies PS, Enns CA. Expression of the hereditary hemochromatosis protein HFE increases ferritin levels by inhibiting iron export in HT29 cells. J Biol Chem. 2004;279:25085-25092.
    • (2004) J Biol Chem , vol.279 , pp. 25085-25092
    • Davies, P.S.1    Enns, C.A.2
  • 34
    • 0037926880 scopus 로고    scopus 로고
    • Cytokine-mediated regulation of iron transport in human monocytic cells
    • Ludwiczek S, Aigner E, Theurl I, Weiss G. Cytokine-mediated regulation of iron transport in human monocytic cells. Blood. 2003;101:4148-4154.
    • (2003) Blood , vol.101 , pp. 4148-4154
    • Ludwiczek, S.1    Aigner, E.2    Theurl, I.3    Weiss, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.