The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease
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چکیده
منابع مشابه
The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease.
Ferroportin disease is caused by mutation of one allele of the iron exporter ferroportin (Fpn/IREG1/Slc40a1/MTP1). All reported human mutations are missense mutations and heterozygous null mutations in mouse Fpn do not recapitulate the human disease. Here we describe the flatiron (ffe) mouse with a missense mutation (H32R) in Fpn that affects its localization and iron export activity. Similar t...
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Mutations in the iron exporter ferroportin (Fpn) result in iron overload in macrophages or hepatocytes depending upon the mutation. Patients with Fpn mutation D157G show high serum ferritin and normal to slightly elevated transferrin saturation. Here, we show that Fpn(D157G)-green fluorescent protein (GFP) is down-regulated independent of hepcidin, and that this down-regulation is due to the co...
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From the Servicio d Guadalajara, Guadal lidades Médicas, U zServicio de Radiolo dalajara, and the §In Madrid, Spain. Address correspondence Jiménez, PhD, Cen Hospital 12 de Octub (e-mail: moranjimen The authors report no co Copyright # 2016 by E Hepatology, and Nu Gastroenterology, H article distributed un tion-Non Commerci where it is permissib properly cited. The commercially withou DOI: 10.1...
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Hemochromatosis is a progressive iron overload disorder that is prevalent among individuals of European descent. It is usually inherited in an autosomal-recessive pattern and associated with missense mutations in HFE, an atypical major histocompatibility class I gene. Recently, we described a large family with autosomal-dominant hemochromatosis not linked to HFE and distinguished by early iron ...
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Mammalian iron homeostasis is dominated by the fact that there is no normal excretory route for iron. Iron homeostasis is regulated at the level of intestinal absorption by the body’s demand for iron. In normal adults, iron absorption matches the rate of iron loss due to desquamification or intestinal sloughing. Iron absorption can be increased in response to increased need deriving from events...
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ژورنال
عنوان ژورنال: Blood
سال: 2007
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2007-01-066068