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Volumn 119, Issue 21, 2012, Pages 5021-5029

Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 6; HEMOGLOBIN; HEPCIDIN; INHIBITOR OF DIFFERENTIATION 1; IRON; MEMBRANE PROTEIN; MESSENGER RNA; SERINE PROTEINASE; SMAD7 PROTEIN; TRANSMEMBRANE PROTEASE SERINE 6; UNCLASSIFIED DRUG;

EID: 84861525631     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-01-401885     Document Type: Article
Times cited : (137)

References (47)
  • 1
    • 77954249308 scopus 로고    scopus 로고
    • Two to tango: Regulation of Mammalian iron metabolism
    • Hentze MW, Muckenthaler MU, Galy B, Camaschella C. Two to tango: regulation of Mammalian iron metabolism. Cell. 2010;142(1):24-38.
    • (2010) Cell , vol.142 , Issue.1 , pp. 24-38
    • Hentze, M.W.1    Muckenthaler, M.U.2    Galy, B.3    Camaschella, C.4
  • 5
    • 23644444316 scopus 로고    scopus 로고
    • Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload
    • DOI 10.1172/JCI25683
    • Niederkofler V, Salie R, Arber S. Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J Clin Invest. 2005; 115(8):2180-2186. (Pubitemid 41134159)
    • (2005) Journal of Clinical Investigation , vol.115 , Issue.8 , pp. 2180-2186
    • Niederkofler, V.1    Salie, R.2    Arber, S.3
  • 6
    • 0037020169 scopus 로고    scopus 로고
    • Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins
    • Velasco G, Cal S, Quesada V, Sanchez LM, Lopez-Otin C. Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins. J Biol Chem. 2002;277(40):37637-37646.
    • (2002) J Biol Chem , vol.277 , Issue.40 , pp. 37637-37646
    • Velasco, G.1    Cal, S.2    Quesada, V.3    Sanchez, L.M.4    Lopez-Otin, C.5
  • 7
    • 0041567036 scopus 로고    scopus 로고
    • Mouse matriptase-2: Identification, characterization and comparative mRNA expression analysis with mouse hepsin in adult and embryonic tissues
    • DOI 10.1042/BJ20030390
    • Hooper JD, Campagnolo L, Goodarzi G, Truong TN, Stuhlmann H, Quigley JP. Mouse matriptase-2: identification, characterization and comparative mRNA expression analysis with mouse hepsin in adult and embryonic tissues. Biochem J. 2003; 373(pt 3):689-702. (Pubitemid 36981079)
    • (2003) Biochemical Journal , vol.373 , Issue.3 , pp. 689-702
    • Hooper, J.D.1    Campagnolo, L.2    Goodarzi, G.3    Truong, T.N.4    Stuhlmann, H.5    Quigley, J.P.6
  • 8
    • 56449096622 scopus 로고    scopus 로고
    • The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin
    • Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab. 2008;8(6):502-511.
    • (2008) Cell Metab , vol.8 , Issue.6 , pp. 502-511
    • Silvestri, L.1    Pagani, A.2    Nai, A.3    De Domenico, I.4    Kaplan, J.5    Camaschella, C.6
  • 9
    • 77952573858 scopus 로고    scopus 로고
    • Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis
    • Finberg KE, Whittlesey RL, Fleming MD, Andrews NC. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood. 2010; 115(18):3817-3826.
    • (2010) Blood , vol.115 , Issue.18 , pp. 3817-3826
    • Finberg, K.E.1    Whittlesey, R.L.2    Fleming, M.D.3    Andrews, N.C.4
  • 11
    • 54349096688 scopus 로고    scopus 로고
    • Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis
    • Folgueras AR, de Lara FM, Pendas AM, et al. Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis. Blood. 2008;112(6):2539-2545.
    • (2008) Blood , vol.112 , Issue.6 , pp. 2539-2545
    • Folgueras, A.R.1    De Lara, F.M.2    Pendas, A.M.3
  • 13
    • 54349094273 scopus 로고    scopus 로고
    • A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron
    • Melis MA, Cau M, Congiu R, et al. A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica. 2008;93(10):1473-1479.
    • (2008) Haematologica , vol.93 , Issue.10 , pp. 1473-1479
    • Melis, M.A.1    Cau, M.2    Congiu, R.3
  • 14
    • 52649096861 scopus 로고    scopus 로고
    • Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency
    • Guillem F, Lawson S, Kannengiesser C, Westerman M, Beaumont C, Grandchamp B. Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. Blood. 2008;112(5):2089-2091.
    • (2008) Blood , vol.112 , Issue.5 , pp. 2089-2091
    • Guillem, F.1    Lawson, S.2    Kannengiesser, C.3    Westerman, M.4    Beaumont, C.5    Grandchamp, B.6
  • 15
    • 67049134745 scopus 로고    scopus 로고
    • Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia
    • Silvestri L, Guillem F, Pagani A, et al. Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood. 2009;113(22): 5605-5608.
    • (2009) Blood , vol.113 , Issue.22 , pp. 5605-5608
    • Silvestri, L.1    Guillem, F.2    Pagani, A.3
  • 16
    • 70350757743 scopus 로고    scopus 로고
    • Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
    • Ramsay AJ, Quesada V, Sanchez M, et al. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Hum Mol Genet. 2009;18(19):3673-3683.
    • (2009) Hum Mol Genet , vol.18 , Issue.19 , pp. 3673-3683
    • Ramsay, A.J.1    Quesada, V.2    Sanchez, M.3
  • 17
    • 77951822044 scopus 로고    scopus 로고
    • Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)
    • De Falco L, Totaro F, Nai A, et al. Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). Hum Mutat. 2010;31(5):E1390-E1405.
    • (2010) Hum Mutat , vol.31 , Issue.5
    • De Falco, L.1    Totaro, F.2    Nai, A.3
  • 18
    • 70350628958 scopus 로고    scopus 로고
    • Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
    • Benyamin B, Ferreira MA, Willemsen G, et al. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat Genet. 2009;41(11):1173-1175.
    • (2009) Nat Genet , vol.41 , Issue.11 , pp. 1173-1175
    • Benyamin, B.1    Ferreira, M.A.2    Willemsen, G.3
  • 19
    • 70350646902 scopus 로고    scopus 로고
    • Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
    • Ganesh SK, Zakai NA, van Rooij FJ, et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet. 2009;41(11): 1191-1198.
    • (2009) Nat Genet , vol.41 , Issue.11 , pp. 1191-1198
    • Ganesh, S.K.1    Zakai, N.A.2    Van Rooij, F.J.3
  • 20
    • 70350638919 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
    • Chambers JC, Zhang W, Li Y, et al. Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat Genet. 2009;41(11):1170-1172.
    • (2009) Nat Genet , vol.41 , Issue.11 , pp. 1170-1172
    • Chambers, J.C.1    Zhang, W.2    Li, Y.3
  • 21
    • 74949090955 scopus 로고    scopus 로고
    • A genome-wide association analysis of serum iron concentrations
    • Tanaka T, Roy CN, Yao W, et al. A genome-wide association analysis of serum iron concentrations. Blood. 2010;115(1):94-96.
    • (2010) Blood , vol.115 , Issue.1 , pp. 94-96
    • Tanaka, T.1    Roy, C.N.2    Yao, W.3
  • 22
    • 78649461131 scopus 로고    scopus 로고
    • Common variants at 10 genomic loci influence hemoglobin A(C) levels via glycemic and nonglycemic pathways
    • Soranzo N, Sanna S, Wheeler E, et al. Common variants at 10 genomic loci influence hemoglobin A(C) levels via glycemic and nonglycemic pathways. Diabetes. 2010;59(12):3229-3239.
    • (2010) Diabetes , vol.59 , Issue.12 , pp. 3229-3239
    • Soranzo, N.1    Sanna, S.2    Wheeler, E.3
  • 23
    • 80052587883 scopus 로고    scopus 로고
    • Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations
    • Traglia M, Girelli D, Biino G, et al. Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J Med Genet. 2011;48(9):629-634.
    • (2011) J Med Genet , vol.48 , Issue.9 , pp. 629-634
    • Traglia, M.1    Girelli, D.2    Biino, G.3
  • 24
    • 80054840413 scopus 로고    scopus 로고
    • TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals
    • Nai A, Pagani A, Silvestri L, et al. TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood. 2011;118(16):4459-4462.
    • (2011) Blood , vol.118 , Issue.16 , pp. 4459-4462
    • Nai, A.1    Pagani, A.2    Silvestri, L.3
  • 25
    • 77956276207 scopus 로고    scopus 로고
    • Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice
    • Nai A, Pagani A, Silvestri L, Camaschella C. Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice. Blood. 2010; 116(5):851-852.
    • (2010) Blood , vol.116 , Issue.5 , pp. 851-852
    • Nai, A.1    Pagani, A.2    Silvestri, L.3    Camaschella, C.4
  • 27
    • 0034631379 scopus 로고    scopus 로고
    • Survival in beta-thalassaemia major in the UK: Data from the UK thalassaesnia register
    • Modell B, Khan M, Darlison M. Survival in beta-thalassaemia major in the UK: data from the UK Thalassaemia Register. Lancet. 2000;355(9220): 2051-2052. (Pubitemid 30339248)
    • (2000) Lancet , vol.355 , Issue.9220 , pp. 2051-2052
    • Modell, B.1    Khan, M.2    Darlison, M.3
  • 34
    • 33745684771 scopus 로고    scopus 로고
    • mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models
    • Weizer-Stern O, Adamsky K, Amariglio N, et al. mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. Am J Hematol. 2006;81(7):479-483.
    • (2006) Am J Hematol , vol.81 , Issue.7 , pp. 479-483
    • Weizer-Stern, O.1    Adamsky, K.2    Amariglio, N.3
  • 35
    • 80054838641 scopus 로고    scopus 로고
    • Beta-thalassemia: A model for elucidating the dynamic regulation of ineffective erythropoiesis and iron metabolism
    • Ginzburg Y, Rivella S. Beta-thalassemia: a model for elucidating the dynamic regulation of ineffective erythropoiesis and iron metabolism. Blood. 2011;118(16):4321-4330.
    • (2011) Blood , vol.118 , Issue.16 , pp. 4321-4330
    • Ginzburg, Y.1    Rivella, S.2
  • 36
    • 76349118307 scopus 로고    scopus 로고
    • Transferrin therapy ameliorates disease in beta-thalassemic mice
    • Li H, Rybicki AC, Suzuka SM, et al. Transferrin therapy ameliorates disease in beta-thalassemic mice. Nat Med. 2010;16(2):177-182.
    • (2010) Nat Med , vol.16 , Issue.2 , pp. 177-182
    • Li, H.1    Rybicki, A.C.2    Suzuka, S.M.3
  • 37
    • 78649813036 scopus 로고    scopus 로고
    • Hepcidin as a therapeutic tool to limit iron overload and improve anemia in beta-thalassemic mice
    • Gardenghi S, Ramos P, Marongiu MF, et al. Hepcidin as a therapeutic tool to limit iron overload and improve anemia in beta-thalassemic mice. J Clin Invest. 2010;120(12):4466-4477.
    • (2010) J Clin Invest , vol.120 , Issue.12 , pp. 4466-4477
    • Gardenghi, S.1    Ramos, P.2    Marongiu, M.F.3
  • 39
    • 2442681406 scopus 로고    scopus 로고
    • Different expression pattern of hepcidin genes in the liver and pancreas of C57BL/6N and DBA/2N mice
    • DOI 10.1016/S0168-8278(04)00125-4, PII S0168827804001254
    • Krijt J, Cmejla R, Sykora V, Vokurka M, Vyoral D, Necas E. Different expression pattern of hepcidin genes in the liver and pancreas of C57BL/6N and DBA/2N mice. J Hepatol. 2004;40(6):891-896. (Pubitemid 38670121)
    • (2004) Journal of Hepatology , vol.40 , Issue.6 , pp. 891-896
    • Krijt, J.1    Cmejla, R.2    Sykora, V.3    Vokurka, M.4    Vyoral, D.5    Necas, E.6
  • 40
    • 51649096725 scopus 로고    scopus 로고
    • Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver
    • Kautz L, Meynard D, Monnier A, et al. Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver. Blood. 2008;112(4):1503-1509.
    • (2008) Blood , vol.112 , Issue.4 , pp. 1503-1509
    • Kautz, L.1    Meynard, D.2    Monnier, A.3
  • 41
    • 79251571756 scopus 로고    scopus 로고
    • Enhanced erythropoiesis in Hfe-KO mice indicates a role for Hfe in the modulation of erythroid iron homeostasis
    • Ramos P, Guy E, Chen N, et al. Enhanced erythropoiesis in Hfe-KO mice indicates a role for Hfe in the modulation of erythroid iron homeostasis Blood. 2011;117(4):1379-1389.
    • (2011) Blood , vol.117 , Issue.4 , pp. 1379-1389
    • Ramos, P.1    Guy, E.2    Chen, N.3
  • 42
    • 70449368579 scopus 로고    scopus 로고
    • Iron overload in thalassaemia intermedia: Reassessment of iron chelation strategies
    • Taher A, Hershko C, Cappellini MD. Iron overload in thalassaemia intermedia: reassessment of iron chelation strategies. Br J Haematol. 2009;147(5): 634-640.
    • (2009) Br J Haematol , vol.147 , Issue.5 , pp. 634-640
    • Taher, A.1    Hershko, C.2    Cappellini, M.D.3
  • 43
    • 0017626225 scopus 로고
    • Effects of blood donation on iron stores as evaluated by serum ferritin
    • Finch CA, Cook JD, Labbe RF, Culala M. Effect of blood donation on iron stores as evaluated by serum ferritin. Blood. 1977;50(3):441-447. (Pubitemid 8180427)
    • (1977) Blood , vol.50 , Issue.3 , pp. 441-447
    • Finch, C.A.1    Cook, J.D.2    Labbe, R.F.3    Culala, M.4
  • 44
    • 33947584856 scopus 로고    scopus 로고
    • Regulation of protein synthesis by the heme-regulated eIF2alpha kinase: Relevance to anemias
    • Chen JJ. Regulation of protein synthesis by the heme-regulated eIF2alpha kinase: relevance to anemias. Blood. 2007;109(7):2693-2699.
    • (2007) Blood , vol.109 , Issue.7 , pp. 2693-2699
    • Chen, J.J.1
  • 46
    • 67651043722 scopus 로고    scopus 로고
    • Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells
    • Tanno T, Porayette P, Sripichai O, et al. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood. 2009;114(1):181-186.
    • (2009) Blood , vol.114 , Issue.1 , pp. 181-186
    • Tanno, T.1    Porayette, P.2    Sripichai, O.3
  • 47
    • 79960674973 scopus 로고    scopus 로고
    • Regulation of TMPRSS6 by BMP6 and iron in human cells and mice
    • Meynard D, Vaja V, Sun CC, et al. Regulation of TMPRSS6 by BMP6 and iron in human cells and mice. Blood. 2011;118(3):747-756.
    • (2011) Blood , vol.118 , Issue.3 , pp. 747-756
    • Meynard, D.1    Vaja, V.2    Sun, C.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.