Molecular pathogenesis of iron overload

Gut

Volumn 51, Issue 2, 2002, Pages 290-295

  Trinder, D ^a   Fox, C ^b   Vautier, G ^b,c   Olynyk, J K ^a,b  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b FREMANTLE HOSPITAL   (Australia)

^c Royal Defence Medical College   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 MICROGLOBULIN; CARRIER PROTEIN; COLLAGEN; FERRITIN; FERROPORTIN; HEME; IRON; IRON REGULATORY FACTOR; MESSENGER RNA; OXIDOREDUCTASE; RECEPTOR; SCLEROPROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG;

CRYPT CELL; DIET; GENE; GENE EXPRESSION; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; IRON ABSORPTION; IRON METABOLISM; IRON OVERLOAD; LIVER INJURY; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

ENTEROCYTES; GENE EXPRESSION; HEME; HEMOCHROMATOSIS; HUMANS; INTESTINAL ABSORPTION; IRON; IRON OVERLOAD; LIVER; LIVER DISEASES; MODELS, BIOLOGICAL; RECEPTORS, TRANSFERRIN;

EID: 0036077111     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.51.2.290     Document Type: Review

References (84)

1. An iron-regulated ferric reductase associated with the absorption of dietary iron
2. Cloning and characterization of a mammalian proton-coupled metal-ion transporter
3. Nramp2 is mutated in the anemic Belgrade (b) rat: Evidence of a role for Nramp2 in endosomal iron transport
4. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
5. Positional cloning of zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter
6. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
7. A novel mammalian iron-regulated protein involved in intracellular iron metabolism
8. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
9. Iron absorption
10. Gene expression of divalent metal transporter 1 and fransferrin receptor in duodenum of Belgrade rats
11. Transferrin receptor distribution and regulation in the rat small intestine. Effect of iron stores and erythropoiesis
12. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
13. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum
14. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
15. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells
16. Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: Implications for cellular iron homeostasis
17. Overexpression of hemochromatosis protein, HFE, alters transferrin recycling process in human hepatoma cells
18. Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis
19. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
20. Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and in hereditary hemochramatasis
21. Comparison af the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE
22. Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron
23. Localisation of divalent metal transporter 1 (DMT1) to the microvillus membrane of rat duodenal enterocytes in iron deficiency, but to hepatocytes in iron overload
24. Regulation of transferrin, transferrin receptor, and ferritin genes in human duodenum
25. Regulating the fate of mRNA: The control of cellular iron metabolism
26. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
27. Iron regulatory protein as an endogenous sensor of iron in rat intestinal mucosa. Possible implications for the regulation of iron absorption
28. Gastrointestinal function, divalent metal transporter-1 expression and intestinal iron absorption
29. In vivo studies on the relationship between intestinal iron (Fe3+) absorption, hypoxia and erythropoiesis in the mouse
30. Molecular medicine and hemochromatosis: At the crossroads
31. Multicentric origin of hemochromatosis gene (HFE) mutations
32. Mutation analysis in hereditary hemochromatosis
33. The UK Haemochromatosis Consortium A simple genetic test identifies 90% of UK patients with haemochromatosis
34. Haemochromatosis and HLA-H
35. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
36. Global prevalence of putative haemochromatosis mutations
37. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
38. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
39. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis
40. HFE gene knockout produces mouse model of hereditary hemochromatosis
41. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors
42. Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria
43. A population-based study of the clinical expression of the hemochromatosis gene
44. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
45. HFE genotype in patients with hemochromatosis and other liver diseases
46. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
47. Juvenile hemochromatosis locus maps to chromosome 1q
48. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
49. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
50. A mutation in SLC11A3 is associated with autosomal dominant haemochromatosis
51. Autosomal-dominant haemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
52. Aceruloplasminemia
53. Studies on familial hypotransferrinemia: Unique clinical course and molecular pathology
54. Duodenal ferritin synthesis in genetic hemochromatosis
55. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis
56. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload
57. Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis
58. Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: Increased duodenal expression of the iron transporter DMTI
59. Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders
60. Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse
61. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
62. Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
63. Wild-type HFE protein normalises transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis
64. Iron transport
65. Uptake of transferrin-bound iron by mammalian cells
66. Transferrin receptor-independent uptake of diferric transferrin by human hepatoma cells with antisense inhibition of receptor expression
67. Inhibition of uptake of transferrin-bound iron by human hepatoma cells by nontransferrin-bound iron
68. Effect of cellular iron concentration on iron uptake by hepatocytes
69. Lack of hepatic transferrin receptor expression in hemochromatosis
70. Characterization of non-transferrin-bound iron clearance by rat liver
71. Uptake of non-transferrin-bound iron by both reductive and nonreductive processes is modulated by intracellular iron
72. Characterisation of non-transferrin-bound iron (ferric citrate) uptake by rat hepatocytes in culture
73. Mechanisms of ferric citrate uptake by human hepatoma cells
74. Functional expression cloning and characterization of SFT, a stimulator of Fe transport
75. Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux
76. Kupffer cell staining by an HFE-specific monoclonal antibody: Implications for hereditary haemochromatosis
77. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
78. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
79. Pathophysiology of iron toxicity
80. Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis
81. Acetaldehyde-induced stimulation of collagen synthesis and gene expression is dependent on conditions of cell culture: Studies with rat lipocytes and fibroblasts
82. The lipid peroxidation end product 4-hydroxy-2,3-nonenal up-regulates transforming growth factor beta 1 expression in the macrophage lineage: A link between oxidative injury and fibrosclerosis
83. Idiopathic hemochromatosis and chromosomal damage
84. Oval cell numbers in human chronic liver diseases are directly related to disease severity