Recent advances in disorders of iron metabolism: Mutations, mechanisms and modifiers

Human Molecular Genetics

Volumn 10, Issue 20, 2001, Pages 2181-2186

  Roy, Cindy N ^a,b   Andrews, Nancy C ^a,c,d  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; FERROPORTIN 1; IRON; MEMBRANE PROTEIN; OXIDOREDUCTASE; PROTEIN DCYTB; PROTEIN FPN1; PROTEIN SFXN1; SIDEROFLEXIN 1; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG;

CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISORDERS OF METAL METABOLISM; FRIEDREICH ATAXIA; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HEMOCHROMATOSIS; HOMEOSTASIS; HUMAN; HUMAN CELL; IRON METABOLISM; IRON OVERLOAD; IRON TRANSPORT; MOLECULAR DYNAMICS; NERVE DEGENERATION; NERVOUS SYSTEM; PRIORITY JOURNAL; REVIEW; SIDEROBLASTIC ANEMIA;

ATAXIA;

EID: 0035474950     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.20.2181     Document Type: Review

References (62)

1. Medical progress: Disorders of iron metabolism
2. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
3. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
4. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
5. Binding to the transferrin receptor is required for endocytosis of HFE and regulation of iron homeostasis
6. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells
7. HFE downregulates iron uptake from transferrin and induces iron-regulatory protein activity in stably transfected cells
8. Overexpression of the hereditary hemochromatosis protein, HFE, in HeLa cells induces an iron-deficient phenotype
9. Overexpression of hemochromatosis protein, HFE, alters transferrin recycling process in human hepatoma cells
10. The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression
11. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
12. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
13. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
14. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
15. Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
16. Juvenile hemochromatosis locus maps to chromosome 1q
17. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
18. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
19. Transferrin receptor 2-α supports cell growth both in iron-chelated cultured cells and in vivo
20. Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis
21. Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE
22. Recent advances in the molecular pathogenesis of Friedreich ataxia
23. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
24. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
25. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
26. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
27. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
28. Studies of human, mouse and yeast frataxin homologues indicate a mitochondrial function for frataxin
29. Frataxin gene of Friedreich's ataxia is targeted to mitochondria
30. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
31. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
32. The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle
33. Crystal structure of human frataxin
34. Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X: Autosome translocations
35. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase
36. A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice
37. Erythropoiesis in pyridoxine deficient mice
38. Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human
39. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
40. Human ABC7 transporter: Gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
41. Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p
42. Dinucleotide repeat polymorphism in the human ceruloplasmin gene
43. Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
44. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
45. A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis
46. Aceruloplasminemia: An inherited neurodegenerative disease with impairment of iron homeostasis
47. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
48. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
49. Hallervorden-Spatz disease: Clinical and MR1 study of 11 cases diagnosed in life
50. Genes that modify the hemochromatosis phenotype in mice
51. Assignment of Slc11a3 to mouse chromosome 1 band 1B and SLC11A3 to human chromosome 2q32 by in situ hybridization
52. Genomic organization and chromosomal localization of the human CD163 (M130) gene: A member of the scavenger receptor cysteine-rich superfamily
53. Positional cloning of zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter
54. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
55. A novel mammalian iron-regulated protein involved in intracellular iron metabolism
56. An iron-regulated ferric reductase associated with the absorption of dietary iron
57. Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene
58. Cloning and characterization of a mammalian proton-coupled metal-ion transporter
59. Identification of the haemoglobin scavenger receptor
60. An inherited enzymatic defect in porphyria cutanea tarda: Decreased uroporphyrinogen decarboxylase activity
61. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda
62. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome