Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin.

Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin.

Ferroportin (FPN) mediates iron export from cells; FPN mutations are associated with the iron overloading disorder hemochromatosis. Previously, we found that the A77D, V162del, and G490D mutations inhibited FPN activity, but that other disease-associated FPN variants retained full iron export capabi...

Bibliografski detalji
Glavni autori:	Drakesmith, H, Schimanski, L, Ormerod, E, Merryweather-Clarke, A, Viprakasit, V, Edwards, J, Sweetland, E, Bastin, J, Cowley, D, Chinthammitr, Y, Robson, K, Townsend, A
Format:	Journal article
Jezik:	English
Izdano:	2005

Slični predmeti

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.
od: Schimanski, L, i dr.
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Molecular diagnosis of the first ferroportin mutation (C326Y) in the far east causing a dominant form of inherited iron overload
od: Viprakasit, V, i dr.
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Ferroportin: lack of evidence for multimers.
od: Schimanski, L, i dr.
Izdano: (2008)

The hemochromatosis protein HFE inhibits iron export from macrophages.
od: Drakesmith, H, i dr.
Izdano: (2002)

Uncommon mutations and polymorphisms in the hemochromatosis gene.
od: Pointon, J, i dr.
Izdano: (2000)

Wild-type ferroportin is not impeded in maturation, cell surface expression or iron export function by mutant ferroportin, and bio-luminescence resonance energy transfer (BRET) experiments indicate monomeric form in cell membranes
od: Schimanski, L, i dr.
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Hepcidin: the missing link between hemochromatosis and infections.
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Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload.
od: Pointon, J, i dr.
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THE ROLES OF HEPCIDIN AND FERROPORTIN IN AUTOCRINE REGULATION OF IRON LEVELS
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od: Roetto, A, i dr.
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A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.
od: Roetto, A, i dr.
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od: Pointon, J, i dr.
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In vitro binding of HFE to the cation-independent mannose-6 phosphate receptor.
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od: Armitage, A, i dr.
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od: Armitage, A, i dr.
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Regulation of hepcidin by erythropoiesis: The story so far.
od: Pasricha, S, i dr.
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od: Drakesmith, A
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od: Aguilar-Martinez, P, i dr.
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Reply to: Hepcidin in malaria superinfection: can findings be translated to humans?
od: Portugal, S, i dr.
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The role of activins in hepcidin regulation during malaria
od: Spottiswoode, N, i dr.
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od: Agudo, A, i dr.
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Cardiac ferroportin regulates cellular iron homeostasis and is important for cardiac function
od: Lakhal-Littleton, S, i dr.
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Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer.
od: Robinson, J, i dr.
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Hepcidin screening to guide iron supplementation in African children
od: Pasricha, S, i dr.
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Erythroferrone inhibits the induction of hepcidin by BMP6
od: Arezes, J, i dr.
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Ferroportin promotes iron import through the retinal vascular endothelium
od: Shu, W, i dr.
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Hepcidin regulation in Malaria
od: Spottiswoode, N
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od: Prentice, A, i dr.
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od: Prentice, A, i dr.
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