Mutational analysis of patients with X‐linked adrenoleukodystrophy

Human Mutation

Volumn 6, Issue 2, 1995, Pages 104-115

  Kok, Fernando ^a   Neumann, Sylvia ^a   Sarde, Claude‐Olivier ^b   Zheng, Siqun ^a   Wu, Kuei‐Hua ^a   Wei, He‐Ming ^a   Bergin, James ^a   Watkins, Paul A ^a   Gould, Stephen ^a   Sack, George ^a   Moser, Hugo ^a   Mandel, Jean‐Louis ^b   Smith, Kirby D ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Adrenoleukodystrophy; ALD; Immunofluorescence; Mutation detection; SSSCP

Indexed keywords

COENZYME A; LIGASE; VERY LONG CHAIN FATTY ACID;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; X CHROMOSOME LINKAGE;

ADRENOLEUKODYSTROPHY; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; BLOTTING, SOUTHERN; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; HUMAN; LINKAGE (GENETICS); MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; X CHROMOSOME;

EID: 0029100208     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380060203     Document Type: Article

References (46)

1. Bacterial periplasmic transport systems: structure, mechanism, and evolution
2. Linkage of adrenoleukodystrophy to a polymorphic DNA probe
3. Fast and sensitive silver staining of DNA in polyacrylamide gels
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. The protein coded by the X‐adrenoleukodystrophy gene is a peroxisomal integral membrane protein
7. The CpG dinucleotide and human genetic disease
8. A cluster of cystic fibro‐sis mutations in the first nucleotide‐binding fold of the cystic fibrosis conductance regulator protein
9. Identification of mutations in the putative ATP‐binding domain of the adrenoleukodystrophy gene
10. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
11. Nucleotide sequence of an Escherichia coli chromosomal hemolysin
12. Systematic screening for mutations in the cystic fibrosis gene: New implications for carrier detection
13. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome
14. A conserved tripeptide sorts proteins to peroxisomes
15. ABC transporters: From microorganisms to man
16. A family of closely related ATP‐binding subunits from prokaryotic and eukaryotic cells
17. Structural model of ATP‐binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport
18. Fatty acid abnormality in adrenoleukodystrophy
19. Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot tor mutations
20. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)‐binding folds of the cystic fiborsis gene
21. Gene deletions causing human generic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
22. Saccharomyces cerevisiae STE6 gene product: A novel pathway tor protein export in eukaryotic cells
23. Adrenoleukodystrophy: Impaired oxidation of fatty acids due to peroxisomal lignoceroyl‐CoA ligase deficiency
24. Secretion of haemolysin by Escherichia coll
25. The yeast STE6 gene encodes a homologue of the mammalian multidrug resistance P‐glycoprotem
26. Adrenoleukodystrophy: Evidence for X‐linkage, inactivation and selection favoring the mutant allele in heterozygous cells
27. Structural model of the nucleotide‐binding conserved component ot periplasmic permeases
28. Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids
29. Adrenoleukodystrophy: Phenotypic variability: Implications for therapy
30. The identification of female carriers for adrenoleukodystrophy
31. Measurements of Saturated Very Long Chain Fatty Acids in Plasma
32. The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexa cosanoic acid in cultured amniocytes and fetal adrenal gland
33. X‐Linked adrenoleukodystrophy
34. X‐linked Adrenoleukodystrophy
35. Putative X‐linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
36. The gene responsible for adrenoleukodystrophy encodes a peroxismal membrane protein
37. Detection of polymorphism of human DNA by gel electrophoresis as single strand conformation polymorphism
38. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
39. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
40. Genomic organization of the adrenoleukodystrophy gene
41. The spectrum of cystic fibrosis mutations
42. Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy
43. Distantly related sequences in the alpha‐ and beta‐subunits of ATP nucleotide binding fold
44. Direct evidence that the deficient oxidation of very lorg chain fatty acids in X‐linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids