Mutational analysis of patients with X-linked adrenoleukodystrophy (Q28290738)

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S Neumann

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C O Sarde

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S Zheng

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K H Wu

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H M Wei

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J Bergin

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P A Watkins

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G Sack

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

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language of work or name

English

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publication date

1995

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published in

Human Mutation

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volume

6

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page(s)

104-15

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issue

2

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Linkage of adrenoleukodystrophy to a polymorphic DNA probe

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Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

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Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells.

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The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein

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A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

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Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene

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Fatty acid abnormality in adrenoleukodystrophy

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Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

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Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

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Adrenoleukodystrophy: impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency

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Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

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Identification of female carriers of adrenoleukodystrophy

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Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

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The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

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Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy

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Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids

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7 January 2021