X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L

British Journal of Haematology

Volumn 115, Issue 4, 2001, Pages 910-917

  Maguire, Andrew ^a   Hellier, Kate ^b   Hammans, Simon ^b   May, Alison ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

ABC transporters; Iron sulphur clusters; Mitochondrial iron; Sideroblastic anaemia; Spinocerebellar ataxia

Indexed keywords

ABC TRANSPORTER; COMPLEMENTARY DNA; ERYTHROCYTE PROTOPORPHYRIN; MEMBRANE PROTEIN; RESTRICTION ENDONUCLEASE; ZINC;

ALLELE; ARTICLE; BONE MARROW BIOPSY; CEREBELLAR ATAXIA; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE MAPPING; HEMIZYGOSITY; HETEROZYGOSITY; HOMEOSTASIS; HUMAN; INTRON; IRON DEFICIENCY ANEMIA; IRON METABOLISM; IRON STORAGE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SIDEROBLASTIC ANEMIA; START CODON;

ANEMIA, SIDEROBLASTIC; ATP-BINDING CASSETTE TRANSPORTERS; CEREBELLAR ATAXIA; FEMALE; HUMANS; IRON; LEUCINE; LINKAGE (GENETICS); MALE; MITOCHONDRIA; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; VALINE; X CHROMOSOME;

EID: 0035672913     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.03015.x     Document Type: Article

References (34)

1. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
2. Human ABC7 transporter gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
3. Thiamine-responsive anemia in DIDMOAD syndrome
4. Sideroblastic anemias
5. Prediction of the secondary structure of proteins from their amino acid sequence
6. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anaemia: Increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis
7. Human erythroid 5-aminolevulinate synthase promoter analysis and identification of an iron-responsive element in the mRNA
8. Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p
9. Identification of a novel iron-responsive element in murine and human erythroid δ-aminolevulinic acid synthase mRNA
10. Analysis of the accuracy and implications of simple method for predicting the secondary structure of globular proteins
11. From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes
12. Leu (CUN) in non-lymphoid cell lineages from a patient with acquired sideroblastic anaemia
13. Reciprocal control of RNA-binding and aconitase activity in the regulation of the iron-responsive element binding protein: Role of the iron-sulfur cluster
14. X-linked sideroblastic anaemia with ataxia: Another mitochondrial disease?
15. A cis-acting element is necessary and sufficient for translational regulation of human ferritin expression in response to iron
16. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
17. The ABC transporter atm1p is required for mitochondrial iron homeostasis
18. The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins
19. A simple method for displaying the hydropathic character of a protein
20. Mutations in SCL19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
21. Mechanism of iron transport to the site of heme synthesis inside yeast mitochondria
22. An ABC transporter in the mitochondrial inner membrane is required for normal growth of yeast
23. Maturation of cellular Fe-S proteins: An essential function of mitochondria
24. Sideroblastic anaemia
25. A simple salting out procedure for extracting DNA from human nucleated cells
26. A specific mRNA binding factor regulates the iron-dependent stability of cytoplasmic transferrin receptor mRNA
27. Hereditary sideroblastic anemia and ataxia - An X-linked recessive disorder
28. A new syndrome of refractory anaemia with vacuolisation of marrow precursors and exocrine pancreatic dysfunction
29. A micromethod for free erythrocyte porphyrins: The FEP test
30. X-linked sideroblastic anemia and ataxia - Linkage to phosphoglycerate kinase at Xq13
31. Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human
32. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia
33. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
34. Stable lyophilized reagents for the serum ferritin assay