Journal ArticleDOI
Disorders of iron metabolism.
TLDR
Iron has the capacity to accept and donate electrons readily, interconverting between ferric (Fe2+) and ferrous (Fe3+) forms, which makes it a useful component of cytochromes, oxygen-binding molecules, and many enzymes.Abstract:
Iron has the capacity to accept and donate electrons readily, interconverting between ferric (Fe2+) and ferrous (Fe3+) forms. This capability makes it a useful component of cytochromes, oxygen-bind...read more
Citations
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Regulation of cellular iron metabolism: Iron-dependent degradation of IRP by SCFFBXL5 ubiquitin ligase.
TL;DR: Current understanding of the roles of SCFFBXL5‐mediated degradation of IRPs played in cellular iron metabolism is discussed and the abundance of FBXL5 is regulated by availability of iron ion in cells.
Journal ArticleDOI
Hepcidin: inflammation's iron curtain
H. McGrath,P. G. Rigby +1 more
TL;DR: Rheumatologists and their patients are the beneficiaries of a recently identified peptide, hepcidin, which appears to be the long-sought iron-regulatory hormone responsible for the anaemia of chronic disease and acts as a negative regulator of iron absorption.
Journal ArticleDOI
Expression of ferroportin in hemochromatosis liver.
TL;DR: The increase in ferroportin protein without an increase in mRNA is consistent with iron-mediated translational regulation through the 5'IRE in the mRNA.
Journal ArticleDOI
1,6-Dimethyl-4-hydroxy-3-pyridinecarboxylic acid and 4-hydroxy-2-methyl-3-pyridinecarboxylic acid as new possible chelating agents for iron and aluminium.
Annalisa Dean,Maria Grazia Ferlin,Paola Brun,Ignazio Castagliuolo,Robert A. Yokel,Denis Badocco,Paolo Pastore,Alfonso Venzo,G. Giorgio Bombi,Valerio Di Marco +9 more
TL;DR: DQ716 has the required favourable properties to be a chelating agent for Fe and Al and is confirmed by chelation efficiency measurements performed in an octanol-aqueous solution in the presence of those ligands and metals.
Journal ArticleDOI
Adult liver disorders caused by inborn errors of metabolism: review and update.
TL;DR: The review will focus on Wilson disease, alpha-1 antitrypsin deficiency, citrin deficiency, and HFE-associated hemochromatosis which are typically found in the adult population.
References
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Journal ArticleDOI
A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
John N. Feder,Andreas Gnirke,Winston Thomas,Zenta Tsuchihashi,David A. Ruddy,A. Basava,F. Dormishian,R. Domingo,Michael C. Ellis,A. Fullan,L.M. Hinton,Norman Jones,B.E. Kimmel,Gregory S. Kronmal,Peter M. San Francisco Lauer,V.K. Lee,Deborah B. Loeb,Felipa A. Mapa,Erin E. McClelland,Nicole C. Meyer,Gabe Mintier,N. Moeller,T. E. Moore,E. Morikang,Cynthia E. Prass,Leah Quintana,Steven M. Starnes,Randall C. Schatzman,K.J. Brunke,Dennis Drayna,Neil Risch,Bruce R. Bacon,Roger K. Wolff +32 more
TL;DR: Using linkage-disequilibrium and full haplotype analysis, this paper identified a 250-kilobase region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical-by-descent in 85% of patient chromosomes.
Journal Article
A novel MHC class-I-like gene is mutated in patients with hereditary haemochromatosis
TL;DR: Using linkage–disequilibrium and full haplotype analysis, a region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical–by–descent in 85% of patient chromosomes is identified, containing a gene related to the MHC class I family, termed HLA–H, containing two missense alterations.
Journal ArticleDOI
Cloning and characterization of a mammalian proton-coupled metal-ion transporter
Hiromi Gunshin,Bryan Mackenzie,Urs V. Berger,Yoshimi Gunshin,Michael F. Romero,Walter F. Boron,Stephan Nussberger,John L. Gollan,Matthias A. Hediger +8 more
TL;DR: A new metal-ion transporter in the rat, DCT1, which has an unusually broad substrate range that includes Fe2+, Zn2+, Mn2+, Co2+, Cd2+, Cu2+, Ni2+ and Pb2+.
Journal ArticleDOI
Prevalence of Iron Deficiency in the United States
TL;DR: Iron deficiency and iron deficiency anemia are still relatively common in toddlers, adolescent girls, and women of childbearing age and were more likely in those who are minority, low income, and multiparous.
Journal ArticleDOI
Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene.
Joseph V. Gray,Keith J. Johnson +1 more
TL;DR: A positional cloning strategy is undertaken to identify the causative mutation in mice with microcytic anaemia, and it is suggested that the phenotype is a consequence of a missense mutation in Nramp2 (ref. 5), a previously identified gene of unknown function.
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