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Blood Cells, Molecules, and Diseases, 2004 A new inherited disorder of iron metabolism, hereafter called "the ferroportin disease," is increasingly recognized worldwide. The disorder is due to pathogenic mutations in the SLC40A1 gene encoding for a main iron export protein in mammals, ferroportin1/IREG1/MTP1, and it was originally identified as an autosomal-dominant form of iron overload not ...
Antonello Pietrangelo
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Therapeutic Advances in Regulating the Hepcidin/Ferroportin Axis [PDF]
Pharmaceuticals, 2019 The interaction between hepcidin and ferroportin is the key mechanism involved in regulation of systemic iron homeostasis. This axis can be affected by multiple stimuli including plasma iron levels, inflammation and erythropoietic demand. Genetic defects or prolonged inflammatory stimuli results in dysregulation of this axis, which can lead to several ...
Daniel F Wallace +2 more
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Serum hepcidin / ferroportin levels in bipolar disorder and schizophrenia
Journal of Trace Elements in Medicine and Biology, 2021 Background: Despite several alternatives for cellular iron influx, the only mechanism for cellular iron efflux is ferroportin mediated active transport. In cases of ferroportin dysfunction, iron accumulates in the cell and causes ferroptosis.
İlkay Keles Altun, Murat Ilhan Atagun
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Ferroportin-mediated iron transport: Expression and regulation
Biochimica Et Biophysica Acta - Molecular Cell Research, 2012 The distinguishing feature between iron homeostasis in single versus multicellular organisms is the need for multicellular organisms to transfer iron from sites of absorption to sites of utilization and storage.
Diane M Ward
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Flatiron Mice and Ferroportin Disease [PDF]
Nutrition Reviews, 2007 Flatiron mice provide the first genetic model that fully recapitulates the iron-loading disorder ferroportin disease. Unlike the other known genetic causes of hemochromatosis, missense mutations in the ferroportin gene are autosomal dominant. These new findings show that ferroportin disease results from dominant negative effects rather than haplo ...
Marianne Wessling-Resnick +1 more
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Functional consequences of ferroportin 1 mutations
Blood Cells, Molecules, and Diseases, 2005The cellular iron exporter ferroportin 1 is expressed in both the duodenum and in cells of the mononuclear phagocyte system. Expression of ferroportin 1 protein on the cell surface is regulated by the interaction of ferroportin 1 with hepcidin. Hepcidin treatment of cells results in internalization and lysosomal degradation of cell surface ferroportin ...
Funmei Yang
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Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2010 Ceruloplasmin plays an essential role in cellular iron efflux by oxidizing ferrous iron exported from ferroportin. Ferroportin is posttranslationally regulated through internalization triggered by hepcidin binding.
Satoshi Kono +2 more
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Gastroenterology, 2011
Patients with ferroportin iron overload due to loss-of-function mutations in SLC40A1 have macrophage iron overload, hyperferritinemia, and normal transferrin saturation. In contrast, hepatocellular iron storage, hyperferritinemia, and increased saturation of transferrin are a distinct clinical presentation of ferroportin iron overload that results from
William J H Griffiths +2 more
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Patients with ferroportin iron overload due to loss-of-function mutations in SLC40A1 have macrophage iron overload, hyperferritinemia, and normal transferrin saturation. In contrast, hepatocellular iron storage, hyperferritinemia, and increased saturation of transferrin are a distinct clinical presentation of ferroportin iron overload that results from
William J H Griffiths +2 more
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Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease
Gastroenterology, 2011 International audienceBACKGROUND & AIMS: Ferroportin disease is characterized by iron overload. It has an autosomal-dominant pattern of inheritance and has been associated with mutations in the SLC40A1 gene, which encodes the cellular iron exporter ...
Annick Mosser +2 more
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Expression of ferroportin in hemochromatosis liver
Blood Cells, Molecules, and Diseases, 2003Iron-regulated transporter protein 1 (IREG1 or ferroportin 1) is a transmembrane iron transporter that has been described in macrophages and hepatocytes. Ferroportin mutations have been described to result in hepatic iron overload in human pedigrees.
Paul C, Adams +3 more
openaire +2 more sources