Iron metabolism and related genetic diseases: A cleared land, keeping mysteries, J Hepatol. févr, vol.64, issue.2, pp.505-520, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01231421
Determination of nontransferrin-bound iron in genetic hemochromatosis using a new HPLC-based method, J Hepatol. mai, vol.32, issue.5, pp.727-760, 2000. ,
Non-transferrin plasma iron, Br J Haematol, vol.66, issue.2, pp.149-51, 1987. ,
Non-transferrinbound iron in plasma or serum from patients with idiopathic hemochromatosis. Characterization by high performance liquid chromatography and nuclear magnetic resonance spectroscopy, J Biol Chem, vol.264, issue.8, pp.4417-4439, 1989. ,
Non-transferrin bound iron: A key role in iron overload and iron toxicity, Biochim Biophys Acta. 9 août, vol.1820, pp.403-413, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00739430
SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis, Cell Metab. juill, vol.22, issue.1, pp.138-50, 2015. ,
Disorders of iron metabolism, N Engl J Med, vol.342, issue.5, p.364, 2000. ,
, N Engl J Med, vol.341, issue.26, pp.1986-95, 1999.
A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation, Mol Cell, vol.5, issue.2, pp.299-309, 2000. ,
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter ,
, Nature, vol.403, issue.6771, pp.776-81, 2000.
Aceruloplasminemia: an update, Int Rev Neurobiol, vol.110, pp.125-51, 2013. ,
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization, Science. 17 déc, vol.306, issue.5704, pp.2090-2093, 2004. ,
A new mouse liverspecific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload, J Biol Chem. 16 mars, vol.276, issue.11, pp.7811-7820, 2001. ,
Hepcidin, a urinary antimicrobial peptide synthesized in the liver, J Biol Chem, vol.276, issue.11, pp.7806-7816, 2001. ,
LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity, FEBS Lett, vol.480, issue.2-3, pp.147-50, 2000. ,
Hepcidin and iron regulation, 10 years later, Blood. 28 avr, vol.117, issue.17, pp.4425-4458, 2011. ,
Hepcidin in iron metabolism, Curr Protein Pept Sci. juin, vol.6, issue.3, pp.279-91, 2005. ,
URL : https://hal.archives-ouvertes.fr/hal-00876626
Identification of erythroferrone as an erythroid regulator of iron metabolism, Nat Genet. juill, vol.46, issue.7, pp.678-84, 2014. ,
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice, Proc Natl Acad Sci U A, vol.98, issue.15, pp.8780-8785, 2001. ,
URL : https://hal.archives-ouvertes.fr/inserm-00331349
Two to tango: regulation of Mammalian iron metabolism, Cell. 9 juill, vol.142, issue.1, pp.24-38, 2010. ,
Efficient clearance of non-transferrin-bound iron by rat liver. Implications for hepatic iron loading in iron overload states, J Clin Invest, vol.76, issue.4, pp.1463-70, 1985. ,
, Neuropathology. févr, vol.35, issue.1, pp.83-90, 2015.
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans, Nat Genet, vol.9, issue.3, pp.267-72, 1995. ,
The iron-copper connection: the link to ceruloplasmin grows stronger, Nutr Rev, vol.53, issue.6, pp.170-173, 1995. ,
Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse, Nat Genet, vol.21, issue.2, pp.195-204, 1999. ,
The neurological presentation of ceruloplasmin gene mutations, Eur Neurol, vol.60, issue.4, pp.200-205, 2008. ,
Classification and molecular pathogenesis of NBIA syndromes, Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc. mars, vol.22, issue.2, pp.272-84, 2018. ,
Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus, Qjm, vol.87, issue.11, pp.663-70, 1994. ,
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism, Proc Natl Acad Sci U A, vol.92, issue.7, pp.2539-2582, 1995. ,
Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux ,
, Proc Natl Acad Sci U A, vol.96, issue.19, pp.10812-10819, 1999.
Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series, Diabet Med J Br Diabet Assoc. août, vol.32, issue.8, pp.993-1000, 2015. ,
Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment, Neurol Sci Off J Ital Neurol Soc Ital Soc Clin Neurophysiol. févr, vol.38, issue.2, pp.357-60, 2017. ,
The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum, J Biol Chem, vol.241, pp.2746-51, 1966. ,
Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFEhemochromatosis modifier gene, Gastroenterology. févr, vol.132, issue.2, pp.679-86, 2007. ,
Quantitative evaluation of expression of iron-metabolism genes in ceruloplasmin-deficient mice, Biochim Biophys Acta. 12 déc, vol.1588, issue.3, pp.195-202, 2002. ,
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights, J Hepatol. juin, vol.36, issue.6, pp.851-857, 2002. ,
Ferroportin disease: pathogenesis, diagnosis and treatment, Haematologica, vol.102, issue.12, pp.1972-84, 2017. ,
Hepcidin, an antimicrobial peptide is downregulated in ceruloplasmin-deficient mice, Peptides. févr, vol.30, issue.2, pp.262-268, 2009. ,
The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation, J Clin Invest, vol.110, issue.7, pp.1037-1081, 2002. ,
Iron transferrin regulates hepcidin synthesis in primary hepatocyte culture through hemojuvelin and BMP2/4. Blood. 15 sept, vol.110, pp.2182-2191, 2007. ,
The ceruloplasmin homolog hephaestin and the control of intestinal iron absorption. Blood Cells Mol Dis, vol.29, pp.367-75, 2002. ,
Iron transport across the blood-brain barrier: development, neurovascular regulation and cerebral amyloid angiopathy, Cell Mol Life Sci CMLS. févr, vol.72, issue.4, pp.709-736, 2015. ,
HFE gene variants affect iron in the brain, J Nutr. 1 avr, vol.141, issue.4, pp.729-739, 2011. ,
Nontransferrin-bound serum iron in thalassemia and sickle cell patients, Int J Biochem, vol.18, issue.10, pp.953-959, 1986. ,
Glial cell ceruloplasmin and hepcidin differentially regulate iron efflux from brain microvascular endothelial cells, Hepatology. janv, vol.9, issue.2, pp.21-30, 2004. ,
Ferroportin deficiency impairs manganese metabolism in flatiron mice, FASEB J. juill, vol.29, issue.7, pp.2726-2759, 2015. ,
Glial fibrillary acidic protein is greatly modified by oxidative stress in aceruloplasminemia brain, Free Radic Res. mars, vol.36, issue.3, pp.303-309, 2002. ,
Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia, J Neuropathol Exp Neurol. déc, vol.61, issue.12, pp.1069-77, 2002. ,
Increased lipid peroxidation in the brains of aceruloplasminemia patients, J Neurol Sci, vol.175, issue.2, pp.91-96, 2000. ,
Ferroptosis: an iron-dependent form of nonapoptotic cell death, Cell. 25 mai, vol.149, issue.5, pp.1060-72, 2012. ,
Redox active accumulation in aceruloplasminemia, Neuropathology, vol.28, issue.5, pp.466-471, 2008. ,
, La ferroportine (FPN) est l'effecteur permettant la libération de fer. L'oxydation du fer ferreux en fer ferrique, qui permet au fer de se lier à la transferrine et d'être délivré aux cellules, met en jeu la céruloplasmine et l'héphaestine (Heph). L'hepcidine limite la libération du fer dans le plasma en provoquant l