Molecular analysis of X-linked adrenoleukodystrophy patients

Journal of the Neurological Sciences

Volumn 131, Issue 1, 1995, Pages 58-64

  Yasutake, Teako ^a   Yamada, Takeshi ^a   Furuya, Hirokazu ^a   Shinnoh, Nobue ^a   Goto, Ikuo ^a   Kobayashi, Takuro ^a  

^a Kyoto University   (Japan)

Author keywords

Adrenoleukodystrophy; ALD protein; ATP binding cassette superfamily; Missense mutation; Western blot

Indexed keywords

ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; HUMAN; MALE; MOLECULAR BIOLOGY; MUTATION; PRIORITY JOURNAL;

ADRENOLEUKODYSTROPHY; ADULT; BASE SEQUENCE; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; BLOTTING, WESTERN; CASE REPORT; CLONING, MOLECULAR; DNA, COMPLEMENTARY; FIBROBLASTS; HUMAN; LINKAGE (GENETICS); MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE PROBES; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SKIN; SUPPORT, NON-U.S. GOV'T; X CHROMOSOME;

EID: 0029000502     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(95)00047-6     Document Type: Article

References (41)

1. Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region
2. Identification of a new frameshift mutation (1801de1AG) in the ALD gene
3. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
4. Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
5. Internal duplication and homology with bacterial transport proteins in the mdrl (P-glycoprotein) gene from multidrug-resistant human cells
6. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
7. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene
8. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
9. Identification of a peroxisomal targeting signal at the carboxy terminus of firefly luciferase
10. Peroxisomal protein import is conserved between yeast, plants, insects and mammals
11. Lignoceroyl-CoASH ligase: enzyme defect in fatty acid β-oxidation system in X-linked childhood adrenoleukodystrophy
12. A family of related ATP-binding subunits coupled to many distinct biological processes in bacteria
13. Fatty acid abnormality in adrenoleukodystrophy
14. Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters
15. The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily
16. Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot for mutations
17. Adrenoleukodystrophy: detection of increased very long chain fatty acids by high-performance liquid chromatography
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19. Adrenoleukodystrophy gene encodes an 80 kDa membrane protein
20. Biogenesis of peroxisomes
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24. Peroxisome targeting signal of rat liver acyl-coenzyme A oxidase resides at the carboxy terminus
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26. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
27. Gadolinium-MRI findings of two adrenoleukodystrophy cases treated with γ-globulin
28. Alzheimer's amyloid precursor protein-positive degenerative neurites exist even within Kuru plaques not specific to Alzheimer's disease
29. The adrenoleukomyeloneuropathy complex: expression in four generations
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31. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
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33. DNA sequencing was chain-terminating inhibitors
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35. Structure and regulation of rat long-chain acyl-CoA synthetase
36. Sequences encoded in the class II region of the MHC related to the ‘ABC’ superfamily of transporters
37. Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy
38. Presenile-onset cerebral adrenoleukodystrophy presenting as Balint's syndrome and dementia
39. Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold
40. Identification, biogenesis, and localization of precursors of Alzheimer's disease A4 amyloid protein