Altered expression of ALDP in X-linked adrenoleukodystrophy (Q24671055)

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M A Smith

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L T Braiterman

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H M Wei

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F Kok

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A B Moser

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H W Moser

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K D Smith

American Journal of Human Genetics

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language of work or name

English

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publication date

August 1995

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published in

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volume

57

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issue

2

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page(s)

292-301

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cites work

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

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

7 April 2017

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Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

7 April 2017

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7 April 2017

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

7 April 2017

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The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

7 April 2017

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

7 April 2017

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Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

7 April 2017

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X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

7 April 2017

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Point mutations in two conserved glycine residues within the integral membrane protein FhuB affect iron(III) hydroxamate transport

7 April 2017

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Bacterial binding protein-dependent permeases: characterization of distinctive signatures for functionally related integral cytoplasmic membrane proteins

7 April 2017

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

28 September 2017

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Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy

28 September 2017

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Fluorescence detection in automated DNA sequence analysis.

28 September 2017

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Firefly luciferase is targeted to peroxisomes in mammalian cells

28 September 2017

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Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy

28 September 2017

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Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins

28 September 2017

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A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase

28 September 2017

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Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation

28 September 2017

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Subcellular distribution of enzymes determined by rapid digitonin fractionation of isolated hepatocytes

30 May 2018

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Rapid and reliable fluorescent cycle sequencing of double-stranded templates

30 May 2018

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Fatty acid abnormality in adrenoleukodystrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801558

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801558

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

28 November 2018

1 reference

12 December 2020

A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

1 reference

12 December 2020

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1 reference

12 December 2020

Very long chain fatty acid beta-oxidation by rat liver mitochondria and peroxisomes

1 reference

12 December 2020

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

1 reference

12 December 2020

Distinct long chain and very long chain fatty acyl CoA synthetases in rat liver peroxisomes and microsomes

1 reference

12 December 2020