ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN

Neurology

Volumn 57, Issue 11, 2001, Pages 1956-1962

  O'Neill, Gilmore N ^a   Aoki, Masashi ^a,b   Brown Jr , Robert H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MUTANT PROTEIN; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; DELETION MUTANT; DNA SEQUENCE; FATTY ACID OXIDATION; FEMALE; GENE MUTATION; GENETIC TRANSCRIPTION; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PENETRANCE; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TRANSPORT; START CODON; TRANSLATION INITIATION; X CHROMOSOME LINKED DISORDER;

EID: 0035846618     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.11.1956     Document Type: Article

References (34)

1. Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
2. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
3. Brain gangliosides in adrenoleukodystrophy
4. Variable phenotypes in a family kindred with adrenoleukodystrophy
5. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters
6. Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines
7. Mutational analysis of the traffic ATPase (ABC) transporters involved in uptake of eye pigment precursors in Drosophila melanogaster. Implications for structure-function relationships
8. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p
9. Adrenoleukodystrophy: A correlation between saturated very long-chain fatty acids in mononuclear cells and phenotype
10. Clinical variation in X-linked adrenoleukodystrophy: Fatty acid and lipid metabolism in cultured fibroblasts
11. X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes
12. Predictions of a 2-locus model for disease heterogeneity: Application to adrenoleukodystrophy
13. Size heterogeneity of EBV and mitochondrial DNAs in Burkitt's lymphoma lines
14. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
15. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
16. Altered expression of ALDP in X-linked adrenoleukodystrophy
17. Peroxisomal fatty acid beta-oxidation in HepG2 cells
18. Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes
19. Assessment of adrenal function in women heterozygous for adrenoleukodystrophy
20. Apoptosis in the central nervous system of cerebral adrenoleukodystrophy patients
21. Adrenomyeloneuropathy: A neuropathologic review featuring its noninflammatory myelopathy
22. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs
23. Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes
24. Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders
25. Rhmod syndrome: A family study of the translation-initiator mutation in the Rh50 glycoprotein gene
26. An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele
27. Coexpression of mutated and normal adrenoleukodystrophy protein reduces protein function: Implications for gene therapy of X-linked adrenoleukodystrophy
28. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy
29. Adrenoleukodystrophy: Evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells
30. Is skewed X inactivation responsible for symptoms in female carriers for adrenoleukodystrophy?
31. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins
32. Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins
33. Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype
34. Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system