Ferroportin disease: pathogenesis, diagnosis and treatment
Open accessAbstract
Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene. It represents one of the commonest causes of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. In FD, loss-of-function mutations of FPN1 limit but do not impair iron export in enterocytes, but they do severely affect iron transfer in macrophages. This leads to progressive and preferential iron trapping in tissue macrophages, reduced iron release to serum transferrin (i.e. inappropriately low transferrin saturation) and a tendency towards anemia at menarche or after intense bloodletting. The hallmark of FD is marked iron accumulation in hepatic Kupffer cells. Numerous FD-associated mutations have been reported worldwide, with a few occurring in different populations and some more commonly reported (e.g. Val192del, A77D, and G80S). FPN1 polymorphisms also represent the gene variants most commonly responsible for hyperferritinemia in Africans. Differential diagnosis includes mainly hereditary hemochromatosis, the syndrome commonly due to either HFE or TfR2, HJV, HAMP, and, in rare instances, FPN1 itself. Here, unlike FD, hyperferritinemia associates with high transferrin saturation, iron-spared macrophages, and progressive parenchymal cell iron load. Abdominal magnetic resonance imaging (MRI), the key non-invasive diagnostic tool for the diagnosis of FD, shows the characteristic iron loading SSL triad (spleen, spine and liver). A non-aggressive phlebotomy regimen is recommended, with careful monitoring of transferrin saturation and hemoglobin due to the risk of anemia. Family screening is mandatory since siblings and offspring have a 50% chance of carrying the pathogenic mutation.
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Loss-of-function mutations of ferroportin impair iron export, are associated with iron accumulation in Küpffer cells and require no or reduced phlebotomy therapy, representing the true ferroportin disease.
“Loss-of-function mutations impair iron export, are associated with iron accumulation in Küpffer cells and require no or reduced phlebotomy therapy, representing the true “ferroportin disease”.81”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [81]
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Cites
Targeting Hypoxia-Inducible Factors for the Treatment of Anemia in Chronic Kidney Disease Patients
Locatelli, F., Fishbane, S. N., Block, G. A., & Macdougall, I. C. (2017) · American Journal of Nephrology · doi:10.1159/000455166 · Cited by 4,834 · see citing works
Hepcidin Regulates Cellular Iron Efflux by Binding to Ferroportin and Inducing Its Internalization
Nemeth, E., Tuttle, M. S., Powelson, J., Vaughn, M. B., Donovan, A., Ward, D. M., Ganz, T., & Kaplan, J. (2004) · Science · doi:10.1126/science.1104742 · Cited by 4,803 · see citing works
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., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-399 · Cited by 3,664 · see citing works
Hepcidin, a urinary antimicrobial peptide synthesized in the liver
Park, C. H., Valore, E. V., Waring, A. J., & Ganz, T. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m008922200 · Cited by 2,168 · see citing works
Pigeon, C., Ilyin, G., Courselaud, B., Leroyer, P., Turlin, B., Brissot, P., & Loréal, O. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m008923200 · Cited by 1,697 · see citing works
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
Donovan, A., Brownlie, A., Zhou, Y., Shepard, J., Pratt, S. J., Moynihan, J., Paw, B. H., Drejer, A., Barut, B., Zapata, A., et al. (2000) · Nature · doi:10.1038/35001596 · Cited by 1,667 · see citing works
McKie, A. T., Marciani, P., Rolfs, A., Brennan, K., Wehr, K., Barrow, D., Miret, S., Bomford, A., Peters, T. J., Farzaneh, F., et al. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)80425-6 · Cited by 1,422 · see citing works
Dysmetabolic Hyperferritinemia: All Iron Overload Is Not Hemochromatosis
Makker, J. S., Hanif, A., Bajantri, B., & Chilimuri, S. S. (2015) · Case Reports in Gastroenterology · doi:10.1159/000373883 · Cited by 1,353 · see citing works
LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity
Krause, A., Neitz, S., Mägert, H.-J., Schulz, A., Forssmann, W.-G., Schulz-Knappe, P., & Adermann, K. (2000) · FEBS Letters · doi:10.1016/s0014-5793(00)01920-7 · Cited by 1,324 · see citing works
The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis
Donovan, A., Lima, C. A., Pinkus, J. L., Pinkus, G. S., Zon, L. I., Robine, S., & Andrews, N. C. (2005) · Cell Metabolism · doi:10.1016/j.cmet.2005.01.003 · Cited by 1,275 · see citing works
A Novel Mammalian Iron-regulated Protein Involved in Intracellular Iron Metabolism
Abboud, S., & Haile, D. J. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m000713200 · Cited by 1,267 · see citing works
Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
Papanikolaou, G., Samuels, M. E., Ludwig, E. H., MacDonald, M. L. E., Franchini, P. L., Dubé, M.-P., Andres, L., MacFarlane, J., Sakellaropoulos, N., Politou, M., et al. (2004) · Nature Genetics · doi:10.1038/ng1274 · Cited by 974 · see citing works
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
Camaschella, C., Roetto, A., Calì, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., & Gasparini, P. (2000) · Nature Genetics · doi:10.1038/75534 · Cited by 803 · see citing works
Drakesmith, H., Nemeth, E., & Ganz, T. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.09.006 · Cited by 638 · see citing works
Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene
Montosi, G., Donovan, A., Totaro, A., Garuti, C., Pignatti, E., Cassanelli, S., Trenor, C. C., Gasparini, P., Andrews, N. C., & Pietrangelo, A. (2001) · Journal of Clinical Investigation · doi:10.1172/jci13468 · Cited by 555 · see citing works
Self-citationA mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
Njajou, O. T., Vaessen, N., Joosse, M., Berghuis, B., van Dongen, J. W. F., Breuning, M. H., Snijders, P. J. L. M., Rutten, W. P. F., Sandkuijl, L. A., Oostra, B. A., et al. (2001) · Nature Genetics · doi:10.1038/90038 · Cited by 492 · see citing works
The Molecular Mechanism of Hepcidin-mediated Ferroportin Down-Regulation
De Domenico, I., Ward, D. M., Langelier, C., Vaughn, M. B., Nemeth, E., Sundquist, W. I., Ganz, T., Musci, G., & Kaplan, J. (2007) · Molecular Biology of the Cell · doi:10.1091/mbc.e07-01-0060 · Cited by 434 · see citing works
Pietrangelo, A. (2003) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2003.08.003 · Cited by 380 · see citing works
Self-citationHepcidin-Induced Endocytosis of Ferroportin Is Dependent on Ferroportin Ubiquitination
Qiao, B., Sugianto, P., Fung, E., del-Castillo-Rueda, A., Moran-Jimenez, M.-J., Ganz, T., & Nemeth, E. (2012) · Cell Metabolism · doi:10.1016/j.cmet.2012.03.018 · Cited by 334 · see citing works
ER Stress Controls Iron Metabolism Through Induction of Hepcidin
Vecchi, C., Montosi, G., Zhang, K., Lamberti, I., Duncan, S. A., Kaufman, R. J., & Pietrangelo, A. (2009) · Science · doi:10.1126/science.1176639 · Cited by 310 · cited 1× · see citing works
“Hepcidin is produced by the liver in response to iron, inflammation, and a variety of stressors.(22-25) Hepcidin binds to the extracellular loop of FPN1 and triggers its ubiquitinylation on lysine residues located in the intracellular domain leading to internalization and degradation in lysosomes.”
BackgroundSelf-citationMarro, S., Chiabrando, D., Messana, E., Stolte, J., Turco, E., Tolosano, E., & Muckenthaler, M. U. (2010) · Haematologica · doi:10.3324/haematol.2009.020123 · Cited by 297 · see citing works
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
Miyajima, H., Nishimura, Y., Mimguchi, K., Sakamoto, M., Shimizu, T., & Honda, N. (1987) · Neurology · doi:10.1212/wnl.37.5.761 · Cited by 295 · see citing works
Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., & Bonneau, D. (1995) · Nature Genetics · doi:10.1038/ng1295-444 · Cited by 293 · see citing works
Hereditary Hemochromatosis in Adults without Pathogenic Mutations in the Hemochromatosis Gene
Pietrangelo, A., Montosi, G., Totaro, A., Garuti, C., Conte, D., Cassanelli, S., Fraquelli, M., Sardini, C., Vasta, F., & Gasparini, P. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909023411003 · Cited by 265 · see citing works
Self-citationResistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
Drakesmith, H., Schimanski, L. M., Ormerod, E., Merryweather-Clarke, A. T., Viprakasit, V., Edwards, J. P., Sweetland, E., Bastin, J. M., Cowley, D., Chinthammitr, Y., et al. (2005) · Blood · doi:10.1182/blood-2005-02-0561 · Cited by 264 · see citing works
The molecular basis of ferroportin-linked hemochromatosis
De Domenico, I., Ward, D. M., Nemeth, E., Vaughn, M. B., Musci, G., Ganz, T., & Kaplan, J. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503804102 · Cited by 230 · see citing works
Hemochromatosis: An endocrine liver disease
Pietrangelo, A. (2007) · Hepatology · doi:10.1002/hep.21886 · Cited by 212 · cited 2× · see citing works
“those due to lossof-function mutations of HFE, TfR2, HJV, HAMP and gainof-function mutations of FPN1) belong to the same syndromic entity as they share the pathogenic basis (lack of hepcidin function-activity), biochemical expressivity (high transferrin saturation and high serum ferritin), liver pathology features (ir…”
BackgroundMethodSelf-citationIn vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
Schimanski, L. M., Drakesmith, H., Merryweather-Clarke, A. T., Viprakasit, V., Edwards, J. P., Sweetland, E., Bastin, J. M., Cowley, D., Chinthammitr, Y., Robson, K. J. H., et al. (2005) · Blood · doi:10.1182/blood-2004-11-4502 · Cited by 212 · see citing works
Gordeuk, V. R., Caleffi, A., Corradini, E., Ferrara, F., Jones, R. A., Castro, O., Onyekwere, O., Kittles, R., Pignatti, E., Montosi, G., et al. (2003) · Blood Cells, Molecules, and Diseases · doi:10.1016/s1079-9796(03)00164-5 · Cited by 198 · see citing works
Self-citationDevalia, V., Carter, K., Walker, A. P., Perkins, S. J., Worwood, M., May, A. M., & Dooley, J. S. (2002) · Blood · doi:10.1182/blood-2001-11-0132 · Cited by 188 · see citing works
Melis, M. A., Cau, M., Congiu, R., Sole, G., Barella, S., Cao, A., Westerman, M., Cazzola, M., & Galanello, R. (2008) · Haematologica · doi:10.3324/haematol.13342 · Cited by 185 · see citing works
A novel MHC class-I-like gene is mutated in patients with hereditary haemochromatosis
(1996) · Trends in Genetics · doi:10.1016/0168-9525(96)81483-1 · Cited by 183 · see citing works
The role of the iron responsive element in the control of ferroportin1/IREG1/MTP1 gene expression
Lymboussaki, A., Pignatti, E., Montosi, G., Garuti, C., Haile, D. J., & Pietrangelo, A. (2003) · Journal of Hepatology · doi:10.1016/s0168-8278(03)00408-2 · Cited by 177 · see citing works
Self-citationNovel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
Wallace, D. F., Pedersen, P. L., Dixon, J. L., Stephenson, P. M., Searle, J. W., Powell, L. W., & Subramaniam, V. N. (2002) · Blood · doi:10.1182/blood.v100.2.692 · Cited by 173 · see citing works
Gaucher disease: Progress and ongoing challenges
Mistry, P. K., Lopez, G. J., Schiffmann, R., Barton, N. W., Weinreb, N. J., & Sidransky, E. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2016.11.006 · Cited by 166 · see citing works
Sham, R. L., Phatak, P. D., West, C., Lee, P., Andrews, C., & Beutler, E. (2005) · Blood Cells, Molecules, and Diseases · doi:10.1016/j.bcmd.2004.12.002 · Cited by 146 · see citing works
Ross, S. L., Tran, L., Winters, A., Lee, K.-J., Plewa, C., Foltz, I., King, C., Miranda, L. P., Allen, J., Beckman, H., et al. (2012) · Cell Metabolism · doi:10.1016/j.cmet.2012.03.017 · Cited by 145 · see citing works
Hetet, G., Devaux, I., Soufir, N., Grandchamp, B., & Beaumont, C. (2003) · Blood · doi:10.1182/blood-2003-02-0439 · Cited by 134 · see citing works
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings
Mayr, R., Janecke, A. R., Schranz, M., Griffiths, W. J. H., Vogel, W., Pietrangelo, A., & Zoller, H. (2010) · Journal of Hepatology · doi:10.1016/j.jhep.2010.05.016 · Cited by 133 · see citing works
Self-citationFunctional consequences of ferroportin 1 mutations
Liu, X.-B., Yang, F., & Haile, D. J. (2005) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2005.04.005 · Cited by 132 · see citing works
Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans
Beutler, E., Barton, J. C., Felitti, V. J., Gelbart, T., West, C., Lee, P. L., Waalen, J., & Vulpe, C. D. (2003) · Blood Cells Molecules and Diseases · doi:10.1016/s1079-9796(03)00165-7 · Cited by 129 · see citing works
Iron metabolism and related genetic diseases: A cleared land, keeping mysteries
Brissot, P., & Loréal, O. (2015) · Journal of Hepatology · doi:10.1016/j.jhep.2015.11.009 · Cited by 126 · see citing works
Taniguchi, R., Kato, H. E., Font, J., Deshpande, C. N., Wada, M., Ito, K., Ishitani, R., Jormakka, M., & Nureki, O. (2015) · Nature Communications · doi:10.1038/ncomms9545 · Cited by 120 · see citing works
Altamura, S., Kessler, R., Gröne, H.-J., Gretz, N., Hentze, M. W., Galy, B., & Muckenthaler, M. U. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2014.07.007 · Cited by 119 · see citing works
The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease.
Zohn, I. E., De Domenico, I., Pollock, A., Ward, D. M., Goodman, J. F., Liang, X., Sanchez, A. J., Niswander, L., & Kaplan, J. (2007) · Blood · doi:10.1182/blood-2007-01-066068 · Cited by 104 · see citing works
A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4?
Roetto, A., Merryweather‐Clarke, A. T., Daraio, F., Livesey, K., Pointon, J. J., Barbabietola, G., Piga, A. G., Mackie, P. H., Robson, K., & Camaschella, C. (2002) · Blood · doi:10.1182/blood-2002-03-0693 · Cited by 102 · see citing works
Iron overload in the Asian community
Lok, C. Y., Merryweather‐Clarke, A. T., Viprakasit, V., Chinthammitr, Y., Srichairatanakool, S., Limwongse, C., Oleesky, D. A., Robins, A. J., Hudson, J., Wai, P. T. J., et al. (2009) · Blood · doi:10.1182/blood-2009-01-199109 · Cited by 98 · see citing works
Pietrangelo, A., Caleffi, A., & Corradini, E. (2011) · Seminars in Liver Disease · doi:10.1055/s-0031-1286061 · Cited by 98 · see citing works
Self-citationRice, A. E., Mendez, M. J., Hokanson, C. A., Rees, D. C., & Björkman, P. J. (2009) · Journal of Molecular Biology · doi:10.1016/j.jmb.2008.12.063 · Cited by 97 · see citing works
Cazzola, M., Cremonesi, L., Papaioannou, M., Soriani, N., Kioumi, A., Charalambidou, A., Paroni, R. C., Romtsou, K., Levi, S., Ferrari, M., et al. (2002) · British Journal of Haematology · doi:10.1046/j.1365-2141.2002.03946.x · Cited by 92 · see citing works
Wallace, D. F., & Subramaniam, V. N. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.140 · Cited by 92 · see citing works
Kannengiesser, C., Jouanolle, A., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou‐Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., et al. (2009) · Haematologica · doi:10.3324/haematol.2008.000125 · Cited by 85 · see citing works
Arden, K. E., Wallace, D. F., Dixon, J. L., Summerville, L., Searle, J. W., Anderson, G. J., Ramm, G. A., Powell, L. W., & Subramaniam, V. N. (2003) · Gut · doi:10.1136/gut.52.8.1215 · Cited by 84 · see citing works
Wallace, D. F., Clark, R. M., Harley, H. A. J., & Subramaniam, V. N. (2004) · Journal of Hepatology · doi:10.1016/j.jhep.2003.12.008 · Cited by 83 · see citing works
Wallace, D. F., Harris, J. M., & Subramaniam, V. N. (2009) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00621.2008 · Cited by 80 · see citing works
Pathophysiological consequences and benefits of HFE mutations: 20 years of research
Hollerer, I., Bachmann, A., & Muckenthaler, M. U. (2017) · Haematologica · doi:10.3324/haematol.2016.160432 · Cited by 80 · see citing works
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
Jouanolle, A., Douabin-Gicquel, V., Halimi, C., Loréal, O., Fergelot, P., Delacour, T., de Lajarte‐Thirouard, A., Turlin, B., Gall, J. L., Cadet, E., et al. (2003) · Journal of Hepatology · doi:10.1016/s0168-8278(03)00148-x · Cited by 79 · see citing works
Evidence for the multimeric structure of ferroportin.
De Domenico, I., Ward, D. M., Musci, G., & Kaplan, J. (2007) · Blood · doi:10.1182/blood-2006-06-032516 · Cited by 72 · see citing works
Genetic and clinical heterogeneity of ferroportin disease
Cemonesi, L., Forni, G. L., Soriani, N., Lamagna, M., Fermo, I., Daraio, F., Gallì, A., Pietra, D., Malcovati, L., Ferrari, M., et al. (2005) · British Journal of Haematology · doi:10.1111/j.1365-2141.2005.05815.x · Cited by 71 · see citing works
Genotypic and phenotypic heterogeneity of African Americans with primary iron overload
Barton, J. C., Acton, R. T., Rivers, C. A., Bertoli, L. F., Gelbart, T., West, C., & Beutler, E. (2003) · Blood Cells Molecules and Diseases · doi:10.1016/s1079-9796(03)00166-9 · Cited by 68 · see citing works
Mayr, R., Griffiths, W. J. H., Hermann, M., McFarlane, I., Halsall, D. J., Finkenstedt, A., Douds, A., Davies, S. E., Janecke, A. R., Vogel, W., et al. (2011) · Gastroenterology · doi:10.1053/j.gastro.2011.02.064 · Cited by 64 · see citing works
Gac, G. L., Ka, C., Joubrel, R., Gourlaouen, I., Lehn, P., Mornon, J., Férec, C., & Callebaut, I. (2013) · Human Mutation · doi:10.1002/humu.22369 · Cited by 63 · see citing works
Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease†
Zoller, H., McFarlane, I., Theurl, I., Stadlmann, S., Nemeth, E., Oxley, D., Ganz, T., Halsall, D. J., Cox, T. M., & Vogel, W. (2005) · Hepatology · doi:10.1002/hep.20775 · Cited by 62 · see citing works
Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease
Lan, C. L., Mosser, A., Ropert, M., Détivaud, L., Loustaud-Ratti, V., Vital-Durand, D., Roget, L. D.-P., Bardou‐Jacquet, E., Turlin, B., David, V., et al. (2011) · Gastroenterology · doi:10.1053/j.gastro.2010.12.049 · Cited by 62 · see citing works
Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease
Pietrangelo, A., Corradini, E., Ferrara, F., Vegetti, A., Jong, G. D., Abbati, G. L., Arcuri, P. P., Martinelli, S., & Cerofolini, E. (2006) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2006.08.007 · Cited by 60 · see citing works
Self-citationFamilial iron overload with possible autosomal dominant inheritance
Eason, R. J., Adams, P. C., Aston, C. E., & Searle, J. W. (1990) · Australian and New Zealand Journal of Medicine · doi:10.1111/j.1445-5994.1990.tb01024.x · Cited by 60 · see citing works
(2003) · PubMed · Cited by 59 · see citing works
Human macrophage ferroportin biology and the basis for the ferroportin disease
Sabelli, M., Montosi, G., Garuti, C., Caleffi, A., Oliveto, S., Biffo, S., & Pietrangelo, A. (2016) · Hepatology · doi:10.1002/hep.29007 · Cited by 58 · see citing works
Self-citationCallebaut, I., Joubrel, R., Pissard, S., Kannengiesser, C., Gérolami, V., Ged, C., Cadet, E., Cartault, F., Ka, C., Gourlaouen, I., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu160 · Cited by 54 · see citing works
Wild-type and mutant ferroportins do not form oligomers in transfected cells
Gonçalves, A. S., Muzeau, F., Blaybel, R., Hetet, G., Driss, F., Delaby, C., Canonne‐Hergaux, F., & Beaumont, C. (2006) · Biochemical Journal · doi:10.1042/bj20051682 · Cited by 52 · see citing works
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload
Zaahl, M. G., Merryweather‐Clarke, A. T., Kotze, M. J., der Merwe, V., Warnich, L., & Robson, K. (2004) · Human Genetics · doi:10.1007/s00439-004-1166-y · Cited by 50 · see citing works
Molecular and clinical correlates in iron overload associated with mutations in ferroportin.
Domenico, I. D., Ward, D. M., Nemeth, E., Ganz, T., Corradini, E., Ferrara, F., Musci, G., Pietrangelo, A., & Kaplan, J. (2006) · PubMed · Cited by 48 · see citing works
Self-citationLétocart, É., Gac, G. L., Majore, S., Ka, C., Radio, F. C., Gourlaouen, I., Bernardo, C. D., Férec, C., & Grammatico, P. (2009) · British Journal of Haematology · doi:10.1111/j.1365-2141.2009.07834.x · Cited by 46 · see citing works
A structural model of human ferroportin and of its iron binding site
Bonaccorsi di Patti, M. C., Polticelli, F., Cece, G., Cutone, A., Felici, F., Persichini, T., & Musci, G. (2014) · The FEBS Journal · doi:10.1111/febs.12825 · Cited by 44 · see citing works
KUPFFER-CELL DEPLETION IN CHRONIC LIVER DISEASE: IMPLICATIONS FOR HEPATIC CARCINOGENESIS
Manifold, I. H., Triger, D. R., & Underwood, J. C. E. (1983) · The Lancet · doi:10.1016/s0140-6736(83)90393-8 · Cited by 42 · see citing works
Girelli, D., Domenico, I. D., Bozzini, C., Campostrini, N., Busti, F., Castagna, A., Soriani, N., Cremonesi, L., Ferrari, M., Colombari, R., et al. (2008) · Journal of Hepatology · doi:10.1016/j.jhep.2008.05.028 · Cited by 41 · see citing works
Koyama, C., Wakusawa, S., Hayashi, H., Ueno, T., SUZUKI, R., Yano, M., Saito, H., & OKAZAKI, T. (2005) · Internal Medicine · doi:10.2169/internalmedicine.44.990 · Cited by 41 · see citing works
Impaired Iron Transport Activity of Ferroportin 1 in Hereditary Iron Overload
McGregor, J., Shayeghi, M., Vulpe, C. D., Anderson, G. J., Pietrangelo, A., Simpson, R. J., & McKie, A. T. (2005) · The Journal of Membrane Biology · doi:10.1007/s00232-005-0768-1 · Cited by 38 · see citing works
Self-citationGlobal Sequencing Approach for Characterizing the Molecular Background of Hereditary Iron Disorders
Cunat, S., Giansily‐Blaizot, M., Bismuth, M., Blanc, F., Dereure, O., Larrey, D. G., Quellec, A. L., Pouderoux, P., Rosé, C., Raingeard, I., et al. (2007) · Clinical Chemistry · doi:10.1373/clinchem.2007.090605 · Cited by 36 · see citing works
Lack of enterocyte iron accumulation in the ferroportin disease
Corradini, E., Montosi, G., Ferrara, F., Caleffi, A., Pignatti, E., Barelli, S., Garuti, C., & Pietrangelo, A. (2005) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2005.07.010 · Cited by 36 · see citing works
Self-citationPelucchi, S., Mariani, R., Salvioni, A., Bonfadini, S., Riva, A., Bertola, F., Trombini, P., & Piperno, A. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00950.x · Cited by 36 · see citing works
Barton, J. C., Acton, R. T., Lee, P. L., & West, C. (2007) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2007.03.008 · Cited by 34 · see citing works
Griffiths, W. J., Mayr, R., McFarlane, I., Hermann, M., Halsall, D. J., Zoller, H., & Cox, T. M. (2009) · Hepatology · doi:10.1002/hep.23377 · Cited by 33 · see citing works
Identification of ferroportin disease in the Indian subcontinent
Wallace, D. F. (2005) · Gut · doi:10.1136/gut.2004.060988 · Cited by 33 · see citing works
Ferroportin is a monomer in vivo in mice
Pignatti, E., Mascheroni, L., Sabelli, M., Barelli, S., Biffo, S., & Pietrangelo, A. (2005) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2005.11.001 · Cited by 31 · see citing works
Self-citationFerroportin: Lack of evidence for multimers
Schimanski, L. M., Drakesmith, H., Talbott, C., Horne, K., James, J. R., Davis, S. J., Sweetland, E., Bastin, J. M., Cowley, D., & Townsend, A. (2007) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2007.09.007 · Cited by 30 · see citing works
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population
Rivard, S. R., Lanzara, C., Grimard, D., Carella, M., Simard, H., Ficarella, R., Simard, R., D’Adamo, P., Férec, C., Camaschella, C., et al. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201009 · Cited by 29 · see citing works
A novel mutation in ferroportin implicated in iron overload
Wallace, D. F., Dixon, J. L., Ramm, G. A., Anderson, G. J., Powell, L. W., & Subramaniam, V. N. (2007) · Journal of Hepatology · doi:10.1016/j.jhep.2007.01.033 · Cited by 27 · see citing works
Disease progression and liver cancer in the ferroportin disease
Corradini, E., Ferrara, F., Pollicino, T., Vegetti, A., Abbati, G. L., Losi, L., Raimondo, G., & Pietrangelo, A. (2007) · Gut · doi:10.1136/gut.2007.122549 · Cited by 27 · see citing works
Self-citationBach, V., Remacha, A. F., Altés, A., Barceló, M. J., Molina, M. A., & Baiget, M. (2005) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2005.09.001 · Cited by 27 · see citing works
Speletas, M. G., Kioumi, A., Loules, G., Hytiroglou, P., Tsitouridis, J., Christakis, J. I., & Germenis, A. E. (2007) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2007.09.011 · Cited by 25 · see citing works
Ferroportin disease due to the A77D mutation in Australia
Subramaniam, V. N. (2005) · Gut · doi:10.1136/gut.2005.069021 · Cited by 25 · see citing works
Novel human pathological mutations
Chin, E. L. H., Bean, L. J., Coffee, B. W., & Hegde, M. (2009) · Human Genetics · doi:10.1007/s00439-009-0717-7 · Cited by 25 · see citing works
Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor
Praschberger, R., Schranz, M., Griffiths, W. J., Baumgartner, N., Hermann, M., Lomas, D. J., Pietrangelo, A., Cox, T. M., Vogel, W., & Zoller, H. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.05.011 · Cited by 24 · see citing works
Self-citationA novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis
Morris, T. J., Litvinova, M. M., Ralston, D., Mattman, A., Holmes, D. T., & Lockitch, G. (2005) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2005.07.007 · Cited by 21 · see citing works
Wallace, D. F., McDonald, C. J., Ostini, L., Iser, D. M., Tuckfield, A., & Subramaniam, V. N. (2017) · American Journal of Hematology · doi:10.1002/ajh.24844 · Cited by 21 · see citing works
Lee, P. L., Gelbart, T., West, C., & Barton, J. C. (2007) · Acta Haematologica · doi:10.1159/000112830 · Cited by 20 · see citing works
McDonald, C. J., Wallace, D. F., Ostini, L., Bell, S., Demediuk, B., & Subramaniam, V. N. (2010) · Journal of Hepatology · doi:10.1016/j.jhep.2010.07.048 · Cited by 20 · see citing works
IgG antibodies to foods in IBS.
Mawdsley, J. E. D., Irving, P. M., & Makins, R. (2005) · Europe PMC (PubMed Central) · Cited by 17 · see citing works
Iron chelation with deferasirox in a patient with de-novo ferroportin mutation
Ünal, Ş., Piperno, A., & Gümrük, F. (2015) · Journal of Trace Elements in Medicine and Biology · doi:10.1016/j.jtemb.2015.01.002 · Cited by 15 · see citing works
A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro
Moreno‐Carralero, M., Muñoz‐Muñoz, J., Cuadrado‐Grande, N., López‐Rodríguez, R., Hernández‐Alfaro, M. J., del‐Castillo‐Rueda, A., de Salamanca, R. E., Méndez, M., & Morán‐Jiménez, M. (2014) · American Journal of Hematology · doi:10.1002/ajh.23714 · Cited by 14 · see citing works
Chen, S. ‐., Yang, L. ‐., Chong, Y., Jie, Y., Wu, Y., Yang, J., Lin, G., & Li, X. (2015) · Internal Medicine Journal · doi:10.1111/imj.12764 · Cited by 14 · see citing works
Pg, F., Wh, H., & Stauffer, U. G. (1961) · PubMed · Cited by 14 · see citing works
Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man
Rueda, A. D. C., Moreno‐Carralero, M., Álvarez-Sala, J. L., Cuadrado‐Grande, N., de Salamanca, R. E., Méndez, M., & Morán‐Jiménez, M. (2010) · European Journal Of Haematology · doi:10.1111/j.1600-0609.2010.01565.x · Cited by 13 · see citing works
Saja, K., Bignell, P. A., Robson, K., & Provan, D. (2010) · British Journal of Haematology · doi:10.1111/j.1365-2141.2010.08137.x · Cited by 13 · see citing works
Viprakasit, V., Merryweather-Clarke, A. T., Chinthammitr, Y., Schimanski, L., Drakesmith, H., Srichairatanakool, S., Limwongse, C., Townsend, A., & Robson, K. J. H. (2004) · Blood · doi:10.1182/blood.v104.11.3204.3204 · Cited by 13 · see citing works
Multi-Organ Iron Overload in an African-American Man with ALAS2 R452S and SLC40A1 R561G
Sussman, N., Lee, P. L., Dries, A. M., Schwartz, M. R., & Barton, J. C. (2008) · Acta Haematologica · doi:10.1159/000181183 · Cited by 12 · see citing works
Lim, F., Dooley, J. S., Roques, A. W. W., Grellier, L., Dhillon, A. P., & Walker, A. P. (2007) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2007.11.001 · Cited by 12 · see citing works
Mild Iron Overload in an African American Man with SLC40A1 D270V
Lee, P. L., Gaasterland, T., & Barton, J. C. (2012) · Acta Haematologica · doi:10.1159/000337034 · Cited by 11 · see citing works
Yamakawa, N., Oe, K., Yukawa, N., Murakami, K., Nakashima, R., Imura, Y., Yoshifuji, H., Ohmura, K., Miura, Y., Tomosugi, N., et al. (2016) · Internal Medicine · doi:10.2169/internalmedicine.55.6565 · Cited by 11 · see citing works
Gordeuk, V. R., Diaz, S. F., Onojobi, G. O., Kasvosve, I., Debebe, Z., Edossa, A., Pantin, J. M., Xiong, S., Nekhai, S. A., Nouraie, M. S., et al. (2008) · Alcoholism Clinical and Experimental Research · doi:10.1111/j.1530-0277.2008.00782.x · Cited by 10 · see citing works
G80S-linked ferroportin disease: The first clinical description in a Greek family
Mougiou, A., Pietrangelo, A., Caleffi, A., Kourakli, A., Καρακάντζα, Μ., & Zoumbos, N. C. (2008) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2008.03.002 · Cited by 10 · see citing works
Self-citationNovel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.
Relvas, L., Claro, M. T., Bento, M. C., & Ribeiro, M. L. (2009) · PubMed · Cited by 9 · see citing works
INSERM (2020) · Definitions · doi:10.32388/eyfwyl · Cited by 8 · see citing works
Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Garcia-Consuegra, I., Rubio, J. C., Nogales‐Gadea, G., Bautista, J., Jiménez, S., Cabello, A., Lucía, A., Andreu, A. L., Arenas, J., & Martin, M. A. (2009) · PubMed · Cited by 7 · see citing works
Wolff, F., Bailly, B., Gulbis, B., & COTTON, F. J. (2013) · Clinica Chimica Acta · doi:10.1016/j.cca.2013.12.024 · Cited by 6 · see citing works
Galicia‐Poblet, G., Cid‐París, E., López‐Andrés, N., Losada‐Pajares, A., Jurado-López, J. C., Moreno‐Carralero, M., & Morán‐Jiménez, M. (2014) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000000648 · Cited by 6 · see citing works
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
Raszeja‐Wyszomirska, J., Caleffi, A., Milkiewicz, P., & Pietrangelo, A. (2014) · Gastroenterology Review · doi:10.5114/pg.2014.46167 · Cited by 6 · see citing works
Self-citationDetection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Ferbo, L., Manzini, P. M., Badar, S., Campostrini, N., Ferrarini, A., Delledonne, M., Francisci, T., Tassi, V., Valfrè, A., Dall'Omo, A. M., et al. (2016) · Europe PMC (PubMed Central) · doi:10.2450/2016.0286-15 · Cited by 6 · see citing works
Girelli, D., Domenico, I. D., Bozzini, C., Tenuti, I., Soriani, N., Busti, F., Cremonesi, L., Kaplan, J., & Corrocher, R. (2007) · Blood · doi:10.1182/blood.v110.11.706.706 · Cited by 3 · see citing works
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Hayes, J. D., Dinkova-Kostova, A. T., & Tew, K. D. (2020) · Cancer Cell · doi:10.1016/j.ccell.2020.06.001 · Cited by 2,654 · see citing works
Iron metabolism and iron disorders revisited in the hepcidin era
Camaschella, C., Nai, A., & Silvestri, L. (2020) · Haematologica · doi:10.3324/haematol.2019.232124 · Cited by 734 · see citing works
“Loss-of-function mutations impair iron export, are associated with iron accumulation in Küpffer cells and require no or reduced phlebotomy therapy, representing the true “ferroportin disease”.(81) Gain-of-function mutations lead to hepcidin resistance and the release of too much iron, as occurs in hemochromatosis.”
Structures and General Transport Mechanisms by the Major Facilitator Superfamily (MFS)
Drew, D., North, R. A., Nagarathinam, K., & Tanabe, M. (2021) · Chemical Reviews · doi:10.1021/acs.chemrev.0c00983 · Cited by 471 · see citing works
Hepcidin and Iron in Health and Disease
Nemeth, E., & Ganz, T. (2023) · Annual Review of Medicine · doi:10.1146/annurev-med-043021-032816 · Cited by 457 · see citing works
Liver iron sensing and body iron homeostasis
Wang, C.-Y., & Babitt, J. L. (2019) · Blood · doi:10.1182/blood-2018-06-815894 · Cited by 360 · see citing works
Nrf2 attenuates ferroptosis-mediated IIR-ALI by modulating TERT and SLC7A11
Dong, H., Xia, Y., Jin, S., Xue, C., Wang, Y., Hu, R., & Jiang, H. (2021) · Cell Death & Disease · doi:10.1038/s41419-021-04307-1 · Cited by 196 · see citing works
Hemochromatosis classification: update and recommendations by the BIOIRON Society
Girelli, D., Busti, F., Brissot, P., Cabantchik, I. Z., Muckenthaler, M. U., & Porto, G. (2021) · Blood · doi:10.1182/blood.2021011338 · Cited by 186 · see citing works
Role of iron metabolism in heart failure: From iron deficiency to iron overload
Zhang, H., Zhabyeyev, P., Wang, S., & Oudit, G. Y. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2018.08.030 · Cited by 185 · see citing works
Inherited iron overload disorders
Piperno, A., Pelucchi, S., & Mariani, R. (2020) · Translational Gastroenterology and Hepatology · doi:10.21037/tgh.2019.11.15 · Cited by 151 · see citing works
The Role of Iron in Cancer Progression
Guo, Q., Li, L., Hou, S., Yuan, Z., Li, C., Zhang, W., Zheng, L., & Li, X. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.778492 · Cited by 150 · see citing works
Hyperferritinemia—A Clinical Overview
Sandnes, M., Ulvik, R. J., Vorland, M., & Reikvam, H. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10092008 · Cited by 139 · see citing works
Iron metabolism under conditions of ineffective erythropoiesis in β-thalassemia
Rivella, S. (2019) · Blood · doi:10.1182/blood-2018-07-815928 · Cited by 120 · see citing works
Katsarou, A., & Pantopoulos, K. (2018) · Pharmaceuticals · doi:10.3390/ph11040127 · Cited by 115 · see citing works
Zhang, D.-L., Ghosh, M. C., Ollivierre, H., Li, Y., & Rouault, T. A. (2018) · Blood · doi:10.1182/blood-2018-04-842997 · Cited by 107 · see citing works
Inherited Disorders of Iron Overload
Pantopoulos, K. (2018) · Frontiers in Nutrition · doi:10.3389/fnut.2018.00103 · Cited by 98 · see citing works
Corradini, E., Buzzetti, E., Dongiovanni, P., Scarlini, S., Caleffi, A., Pelusi, S., Bernardis, I., Ventura, P., Rametta, R., Tenedini, E., et al. (2021) · Journal of Hepatology · doi:10.1016/j.jhep.2021.03.014 · Cited by 90 · see citing works
Self-citationXu, Y., Alfaro-Magallanes, V. M., & Babitt, J. L. (2020) · British Journal of Haematology · doi:10.1111/bjh.17252 · Cited by 94 · see citing works
Sanati, M., Afshari, A. R., Kesharwani, P., Sukhorukov, V. N., & Sahebkar, A. (2022) · Journal of Controlled Release · doi:10.1016/j.jconrel.2022.05.035 · Cited by 93 · see citing works
Structural basis of ion transport and inhibition in ferroportin
Pan, Y., Ren, Z., Gao, S., Shen, J., Wang, L., Xu, Z., Yu, Y., Bachina, P., Zhang, H., Fan, X., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19458-6 · Cited by 81 · see citing works
H-Ferritin is essential for macrophages’ capacity to store or detoxify exogenously added iron
Mesquita, G., Silva, T., Gomes, A. C., Oliveira, P. F., Alves, M. G., Fernandes, R., Almeida, A. A., Moreira, A. C., & Gomes, M. S. (2020) · Scientific Reports · doi:10.1038/s41598-020-59898-0 · Cited by 70 · see citing works
Iron and liver cancer: an inseparable connection
Hino, K., Yanatori, I., Hara, Y., & Nishina, S. (2021) · FEBS Journal · doi:10.1111/febs.16208 · Cited by 68 · see citing works
Armitage, A. E., & Moretti, D. (2019) · Pharmaceuticals · doi:10.3390/ph12020059 · Cited by 71 · see citing works
di Patti, M. C. B., Cutone, A., Polticelli, F., Rosa, L., Lepanto, M. S., Valenti, P., & Musci, G. (2018) · BioMetals · doi:10.1007/s10534-018-0087-5 · Cited by 64 · see citing works
Genetic iron overload disorders
Corradini, E., Buzzetti, E., & Pietrangelo, A. (2020) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2020.100896 · Cited by 63 · see citing works
Self-citationRegulation of Iron Homeostasis and Related Diseases
Li, Y., Huang, X., Wang, J., Huang, R., & Wan, D. (2020) · Mediators of Inflammation · doi:10.1155/2020/6062094 · Cited by 64 · see citing works
Vlasveld, L. T., Janssen, R., Bardou-Jacquet, E., Venselaar, H., Hamdi-Roze, H., Drakesmith, H., & Swinkels, D. W. (2019) · Pharmaceuticals · doi:10.3390/ph12030132 · Cited by 57 · see citing works
Ganz, T., Aronoff, G. R., Gaillard, S., Goodnough, L. T., Macdougall, I. C., Mayer, G. J., Porto, G., Winkelmayer, W. C., & Wish, J. B. (2020) · Kidney Medicine · doi:10.1016/j.xkme.2020.01.006 · Cited by 53 · see citing works
Mechanisms of cellular iron sensing, regulation of erythropoiesis and mitochondrial iron utilization
Maio, N., Zhang, D., Ghosh, M. C., Jain, A., SantaMaria, A. M., & Rouault, T. A. (2021) · Seminars in Hematology · doi:10.1053/j.seminhematol.2021.06.001 · Cited by 49 · see citing works
Iron Metabolism: An Under Investigated Driver of Renal Pathology in Lupus Nephritis
Wlazlo, E., Mehrad, B., Morel, L. M., & Scindia, Y. M. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.643686 · Cited by 44 · see citing works
STING deficiency alleviates ferroptosis through FPN1 stabilization in diabetic kidney disease
Zhao, Q., Yan, S., Wang, F., Li, X., Shang, G.-K., Zheng, Z.-J., Xiao, J., Li, C., Ji, X., & Ji, X. (2024) · Biochemical Pharmacology · doi:10.1016/j.bcp.2024.116102 · Cited by 45 · see citing works
Diagnosis and management of hereditary haemochromatosis
Murphree, C. R., Nguyen, N., Raghunathan, V. M., Olson, S. R., DeLoughery, T. G., & Shatzel, J. J. (2020) · Vox Sanguinis · doi:10.1111/vox.12896 · Cited by 45 · see citing works
Coaction of hepatic thioredoxin and glutathione systems in iron overload‐induced oxidative stress
Aydın, F. S., Hukkamlı, B., & Budak, H. (2021) · Journal of Biochemical and Molecular Toxicology · doi:10.1002/jbt.22704 · Cited by 45 · see citing works
The cardinal roles of ferroportin and its partners in controlling cellular iron in and out
Yang, Q., Liu, W., Zhang, S., & Liu, S. (2020) · Life Sciences · doi:10.1016/j.lfs.2020.118135 · Cited by 45 · see citing works
Kontoghiorghes, G. J., Kolnagou, A., Demetriou, T., Neocleous, M., & Kontoghiorghe, C. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22115546 · Cited by 41 · see citing works
Ferroportin disease mutations influence manganese accumulation and cytotoxicity
Choi, E., Nguyen, T., Iwase, S., & Seo, Y. A. (2018) · The FASEB Journal · doi:10.1096/fj.201800831r · Cited by 37 · see citing works
Fisher, A. L., & Babitt, J. L. (2021) · Developmental Dynamics · doi:10.1002/dvdy.372 · Cited by 38 · see citing works
Multitarget Pharmacology of Sulfur–Nitrogen Heterocycles: Anticancer and Antioxidant Perspectives
Drakontaeidi, A., Papanotas, I., & Pontiki, E. A. (2024) · Antioxidants · doi:10.3390/antiox13080898 · Cited by 35 · see citing works
The role of cGAS-STING signaling pathway in ferroptosis
Ding, L., Zhang, R., Du, W., Wang, Q., & Pei, D. (2024) · Journal of Advanced Research · doi:10.1016/j.jare.2024.12.028 · Cited by 38 · see citing works
The potential of ferroptosis combined with radiotherapy in cancer treatment
Lu, Z., Xiao, B., Chen, W., Tang, T., Zhuo, Q., & Chen, X. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1085581 · Cited by 32 · see citing works
Mallio, C. A., Vullo, G. L., Messina, L., Zobel, B. B., Parizel, P. M., & Quattrocchi, C. C. (2019) · Investigative Radiology · doi:10.1097/rli.0000000000000604 · Cited by 32 · see citing works
How does hepcidin hinder ferroportin activity?
Zhang, D., & Rouault, T. A. (2018) · Blood · doi:10.1182/blood-2018-01-824151 · Cited by 31 · see citing works
Zhang, W., Xu, A., Li, Y., Zhao, S., Zhou, D., Wu, L., Zhang, B., Zhao, X., Wang, Y., Wang, X., et al. (2019) · Liver International · doi:10.1111/liv.14013 · Cited by 29 · see citing works
Kontoghiorghes, G. J. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25094654 · Cited by 31 · see citing works
Eder, S. K., Feldman, A., Strebinger, G., Kemnitz, J., Zandanell, S., Niederseer, D., Straßer, M., Haufe, H., Sotlar, K., Stickel, F., et al. (2020) · Liver International · doi:10.1111/liv.14503 · Cited by 26 · see citing works
Iron Availability in Tissue Microenvironment: The Key Role of Ferroportin
Gammella, E., Correnti, M., Cairo, G., & Recalcati, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22062986 · Cited by 28 · see citing works
Ka, C., Guellec, J., Pepermans, X., Kannengiesser, C., Ged, C., Wuyts, W. A., Cassiman, D. M., de Lédinghen, V., Varet, B. R., de Kerguenec, C., et al. (2018) · Haematologica · doi:10.3324/haematol.2018.189845 · Cited by 25 · see citing works
Membrane Transporters Involved in Iron Trafficking: Physiological and Pathological Aspects
Pasquadibisceglie, A., di Patti, M. C. B., Musci, G., & Polticelli, F. (2023) · Biomolecules · doi:10.3390/biom13081172 · Cited by 26 · see citing works
Mitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis
Bucarey, J. L., Casas, M., & Espinosa, A. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27052232 · Cited by 24 · see citing works
Sorokin, E. P., Basty, N., Whitcher, B. J., Liu, Y., Bell, J. D., Cohen, R. L., Cule, M., & Thomas, E. L. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.04.013 · Cited by 24 · see citing works
Redox mechanism of glycerophospholipids and relevant targeted therapy in ferroptosis
Chang, S., Zhang, M., Liu, C., Li, M., Lou, Y., & Tan, H. (2025) · Cell Death Discovery · doi:10.1038/s41420-025-02654-y · Cited by 28 · see citing works
Guellec, J., Elbahnsi, A., Tertre, M. L., Uguen, K., Gourlaouen, I., Férec, C., Ka, C., Callebaut, I., & Gac, G. L. (2019) · The FASEB Journal · doi:10.1096/fj.201901857r · Cited by 21 · see citing works
Nrf2 activators for the treatment of rare iron overload diseases: From bench to bedside
Dong, Y., Zheng, M., Ding, W., Guan, H., Xiao, J., & Li, F. (2025) · Redox Biology · doi:10.1016/j.redox.2025.103551 · Cited by 22 · see citing works
What’s Important and New in Hemochromatosis?
Brissot, P., & Brissot, É. (2020) · Clinical Hematology International · doi:10.2991/chi.k.200726.001 · Cited by 21 · see citing works
Cai, C., Zeng, D., Gao, Q., Ma, L., Zeng, B., Zhou, Y., & Wang, H. (2021) · Scientific Reports · doi:10.1038/s41598-021-92839-z · Cited by 22 · see citing works
Ekaputri, S., Choi, E., Sabelli, M., Aring, L., Green, K. J., Chang, J., Bao, K., Choi, H. S., Iwase, S., Kim, J., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2121400119 · Cited by 22 · see citing works
Self-citationPiperno, A., Pelucchi, S., & Mariani, R. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032560 · Cited by 22 · see citing works
Ferroportin-Hepcidin Axis in Prepubertal Obese Children with Sufficient Daily Iron Intake
Gajewska, J., Ambroszkiewicz, J., Klemarczyk, W., Głąb-Jabłońska, E., Weker, H., & Chełchowska, M. (2018) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph15102156 · Cited by 22 · see citing works
Mertens, C., Schnetz, M., Rehwald, C., Grein, S., Elwakeel, E., Weigert, A., Brüne, B., & Jung, M. (2021) · Metabolites · doi:10.3390/metabo11030180 · Cited by 22 · see citing works
Mechanism of Ca2+ transport by ferroportin
Shen, J., Wilbon, A. S., Zhou, M., & Pan, Y. (2023) · eLife · doi:10.7554/elife.82947 · Cited by 21 · see citing works
Kenawi, M., Rouger, E., Island, M., Leroyer, P., Robin, F., Remy, S., Tesson, L., Anegón, I., Nay, K., Derbré, F., et al. (2019) · The FASEB Journal · doi:10.1096/fj.201901106r · Cited by 20 · see citing works
Uguen, K., Ka, C., Collod‐Béroud, G., Tertre, M. L., Guellec, J., Férec, C., Béroud, C., Callebaut, I., & Gac, G. L. (2023) · Human Mutation · doi:10.1155/2023/5162256 · Cited by 19 · see citing works
Girelli, D., Marchi, G., & Busti, F. (2024) · Hematology · doi:10.1182/hematology.2024000568 · Cited by 17 · see citing works
Elbahnsi, A., Dudás, B., Callebaut, I., Hinzpeter, A., & Miteva, M. A. (2024) · Pharmaceuticals · doi:10.3390/ph17121602 · Cited by 17 · see citing works
Viveiros, A., Schaefer, B., Panzer, M., Henninger, B., Plaikner, M., Kremser, C., Franke, A., Franzenburg, S., Hoeppner, M. P., Stauder, R., et al. (2021) · Hepatology · doi:10.1002/hep.31982 · Cited by 15 · see citing works
Liu, B., Song, Z., Fan, Y., Zhang, G., Cao, P., Li, D., Liu, X., Chang, Y., & Tan, K. (2021) · Aging · doi:10.18632/aging.202685 · Cited by 16 · see citing works
Importance of Iron Absorption in Human Health: An Overview
Dixit, S. P., Logesh, R., Palaniswamy, D. S., & Mohankumar, S. K. (2020) · Current Nutrition & Food Science · doi:10.2174/1573401316999200801021752 · Cited by 15 · see citing works
Disturbances of Copper and Iron Metabolism
Lefkowitch, J. H. (2020) · Elsevier eBooks · doi:10.1016/b978-0-7020-7584-1.00014-0 · Cited by 15 · see citing works
Hyperferritinemia and diagnosis of type 1 Gaucher disease
Marchi, G., Nascimbeni, F., Motta, I., Busti, F., Carubbi, F., Cappellini, M. D., Pietrangelo, A., Corradini, E., Piperno, A., & Girelli, D. (2020) · American Journal of Hematology · doi:10.1002/ajh.25752 · Cited by 14 · see citing works
Self-citationBanerjee, S., Lu, S., Jain, A. S., Wang, I., Tao, H., Srinivasan, S., Nemeth, E., & He, P. (2024) · Blood · doi:10.1182/blood.2024023829 · Cited by 13 · see citing works
Tatsumi, Y., Kato, A., Kato, K., & Hayashi, H. (2018) · Hepatology Research · doi:10.1111/hepr.13200 · Cited by 12 · see citing works
Structural basis of ferroportin inhibition by minihepcidin PR73
Wilbon, A. S., Shen, J., Ruchala, P. P., Zhou, M., & Pan, Y. (2023) · PLoS Biology · doi:10.1371/journal.pbio.3001936 · Cited by 13 · see citing works
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia
Ravasi, G., Pelucchi, S., Bertola, F., Capelletti, M. M., Mariani, R., & Piperno, A. (2021) · Genes · doi:10.3390/genes12111778 · Cited by 12 · see citing works
Baltacı, N. G., Toraman, E., Akyüz, M., Kalın, Ş. N., & Budak, H. (2022) · BioMetals · doi:10.1007/s10534-022-00435-z · Cited by 11 · see citing works
Uguen, K., Tertre, M. L., Tchernitchko, D., Elbahnsi, A., Maestri, S., Gourlaouen, I., Férec, C., Ka, C., Callebaut, I., & Gac, G. L. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100335 · Cited by 12 · see citing works
New developments in the role of ferroptosis in sepsis‑induced cardiomyopathy (Review)
Wang, D., Qu, X., Zhang, Z.-H., & Zhou, G.-S. (2025) · Molecular Medicine Reports · doi:10.3892/mmr.2025.13483 · Cited by 12 · see citing works
Thorne, I., Stroud, J., & Penn, H. (2018) · International Journal of Clinical Practice · doi:10.1111/ijcp.13215 · Cited by 10 · see citing works
Ferroportin disease: A novel SLC40A1 mutation
Ravasi, G., Pelucchi, S., Russo, A., Mariani, R., & Piperno, A. (2020) · Digestive and Liver Disease · doi:10.1016/j.dld.2020.03.013 · Cited by 10 · see citing works
Cappellini, M. D. (2022) · Springer eBooks · doi:10.1007/978-3-030-67727-5_37 · Cited by 10 · see citing works
Tortosa, V., Bonaccorsi di Patti, M. C., Brandi, V., Musci, G., & Polticelli, F. (2017) · Bio-Algorithms and Med-Systems · doi:10.1515/bams-2017-0029 · Cited by 9 · see citing works
A Review of New Concepts in Iron Overload.
Sohal, A., & Kowdley, K. V. (2024) · PubMed Central · Cited by 8 · see citing works
Wang, J., He, F., Wang, R., Zou, F., Yan, W., Cheng, S., Liu, R. R., & Lei, X. (2025) · APOPTOSIS · doi:10.1007/s10495-025-02195-w · Cited by 9 · see citing works
Tertre, M. L., Ka, C., Raud, L., Berlivet, I., Gourlaouen, I., Richard, G., Uguen, K., Chen, J., Férec, C., Fichou, Y., et al. (2020) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2020.102527 · Cited by 10 · see citing works
Brissot, P., & Loréal, O. (2021) · Journal of Hepatology · doi:10.1016/j.jhep.2021.04.001 · Cited by 8 · see citing works
Masoumi, Z. T., Hansson, L. R., Hansson, E., Ahlm, E., Mezey, É., Erlandsson, L., & Hansson, S. R. (2023) · Placenta · doi:10.1016/j.placenta.2023.01.008 · Cited by 8 · see citing works
Honma, Y., Karasuyama, T., Kumamoto, K., Shimajiri, S., Toki, Y., Tatsumi, Y., Sumida, K., Koikawa, K., Morino, K., Oe, S., et al. (2020) · Medical Molecular Morphology · doi:10.1007/s00795-020-00259-1 · Cited by 7 · see citing works
Iron chelators reverse organ damage in type 4B hereditary hemochromatosis
Wu, L., Song, Z., Li, Q., Mou, L.-J., Yu, Y., Shen, S., & Song, X. (2021) · Medicine · doi:10.1097/md.0000000000025258 · Cited by 7 · see citing works
Hayashi, H., Yano, M., Urawa, N., Mizutani, A., Hamaoka, S., Araki, J., Kojima, Y., Naito, Y., Kato, A., Tatsumi, Y., et al. (2018) · Internal Medicine · doi:10.2169/internalmedicine.0481-17 · Cited by 7 · see citing works
Kourti, M., & Kontoghiorghes, G. J. (2025) · Antioxidants · doi:10.3390/antiox15010015 · Cited by 8 · see citing works
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease
Kowdley, D. S., & Kowdley, K. V. (2021) · The Application of Clinical Genetics · doi:10.2147/tacg.s269622 · Cited by 6 · see citing works
Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions
Vlasveld, L. T., & Swinkels, D. W. (2018) · Haematologica · doi:10.3324/haematol.2018.203315 · Cited by 6 · see citing works
Tertre, M. L., Elbahnsi, A., Ged, C., Uguen, K., Gourlaouen, I., Férec, C., Ka, C., Gac, G. L., & Callebaut, I. (2025) · The FASEB Journal · doi:10.1096/fj.202500790rr · Cited by 5 · see citing works
Liao, Y., Chen, J., Zhao, Y., Yao, H., Ye, W., Tang, H., He, Z., Sheng, Y., Lu, S., Hu, Y., et al. (2025) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2025.12.058 · Cited by 5 · see citing works
Production of Recombinant Human Ceruloplasmin: Improvements and Perspectives
di Patti, M. C. B., Cutone, A., Nemčovič, M., Pakanová, Z., Baráth, P., & Musci, G. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22158228 · Cited by 5 · see citing works
Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis
Hu, J., Li, Y., Zhang, L., Peng, G., Zhang, F., & Zhao, X. (2023) · Medical Molecular Morphology · doi:10.1007/s00795-023-00359-8 · Cited by 5 · see citing works
The Ferroxidase–Permease System for Transport of Iron Across Membranes: From Yeast to Humans
Amadei, M., Polticelli, F., Musci, G., & di Patti, M. C. B. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26030875 · Cited by 5 · see citing works
Dietzen, D. J., & Diab, Y. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-817962-8.00026-3 · Cited by 6 · see citing works
Rishi, G., Secondes, E. S., Wallace, D. F., & Subramaniam, V. N. (2020) · Bioscience Reports · doi:10.1042/bsr20191499 · Cited by 5 · see citing works
Structural and functional characterisation of HepTH1-5 peptide as a potential hepcidin replacement
Azemin, W.-A., Alias, N., Ali, A. M., & Shamsir, M. S. (2021) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2021.2011415 · Cited by 5 · see citing works
Troppmair, M. R., Ricci, A., Scarlini, S., Pelucchi, S., Porto, G., Busti, F., Sánchez, M., Weißensteiner, H., Schönherr, S., Forer, L., et al. (2025) · Journal of Hepatology · doi:10.1016/j.jhep.2025.10.016 · Cited by 4 · see citing works
Self-citationHao, J.-J., Xiu, F., Chen, Y.-Y., Meng, Z., Dong, F., Yang, X.-F., Chu, Z., Kuai, J., & Bao, H. (2025) · Metabolic Brain Disease · doi:10.1007/s11011-025-01732-5 · Cited by 4 · see citing works
- Authors
- Pietrangelo, A.
- Affiliations
- University of Modena and Reggio Emilia (IT)
- Corresponding author
- Pietrangelo, Antonello
- Venue
- Haematologica
- Published
- 2017-11-03
- Volume
- 102
- Issue
- 12
- Pages
- 1972-1984
- ISSN
- 0390-6078 (ISSN-L)
- 1592-8721
- PMC
- PMC5709096
- OpenAlex
- W2766930181
- Cited by
- 151
- References
- 123
- Citations by year
- 2026: 12 · 2025: 22 · 2024: 14 · 2023: 17 · 2022: 10 · 2021: 28 · 2020: 23 · 2019: 7 · 2018: 16 · 2017: 1
- FWCI
- 9.91
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Haematologica (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Keywords
- ferroportin disease, ferroportin 1, hereditary iron overload, hyperferritinemia, transferrin saturation, Kupffer cells, phlebotomy, family screening
- MeSH terms
- Ferroportin, Humans, Kupffer Cells, Mutation, Phlebotomy, Iron Overload, Cation Transport Proteins
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