X-linked adrenoleukodystrophy: genes, mutations, and phenotypes (Q33607735)

28 July 2017

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title

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes (English)

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X-linked adrenoleukodystrophy

28 July 2017

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Smith KD

1

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28 July 2017

Kemp S

2

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28 July 2017

Braiterman LT

3

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28 July 2017

Lu JF

4

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28 July 2017

Wei HM

5

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28 July 2017

Geraghty M

6

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28 July 2017

Stetten G

7

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28 July 2017

Bergin JS

8

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28 July 2017

Pevsner J

9

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28 July 2017

Watkins PA

10

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28 July 2017

1 April 1999

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28 July 2017

Neurochemical Research

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28 July 2017

24

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28 July 2017

4

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28 July 2017

521-535

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https://scigraph.springernature.com/pub.10.1023/a:1022535930009

28 July 2017

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cites work

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

Purification and properties of rat liver peroxisomal very-long-chain acyl-CoA synthetase.

1 reference

12 December 2020

Topology of the hydrophobic membrane-bound components of the histidine periplasmic permease. Comparison with other members of the family

1 reference

12 December 2020

Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes

1 reference

12 December 2020

Molecular analysis of X-linked adrenoleukodystrophy patients

1 reference

12 December 2020

Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins

1 reference

12 December 2020

Peroxisomal fatty acid beta-oxidation in HepG2 cells

1 reference

12 December 2020

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

1 reference

12 December 2020

Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter

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12 December 2020

Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes

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12 December 2020

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

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12 December 2020

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy

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12 December 2020

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

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12 December 2020

Two intronic mutations in the adrenoleukodystrophy gene.

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12 December 2020

Identification of a fourth half ABC transporter in the human peroxisomal membrane

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12 December 2020

Altered expression of ALDP in X-linked adrenoleukodystrophy

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12 December 2020

cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter.

1 reference

12 December 2020

Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants

1 reference

12 December 2020

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene

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12 December 2020

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Penetrating the peroxisome

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12 December 2020

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

1 reference

12 December 2020

Molecular cloning of cDNA encoding rat very long-chain acyl-CoA synthetase

1 reference

12 December 2020

Pas de deux or more: the sulfonylurea receptor and K+ channels

1 reference

12 December 2020

Regulation of ion channels by ABC transporters that secrete ATP.

1 reference

12 December 2020

A mouse model for X-linked adrenoleukodystrophy

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12 December 2020

First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy

1 reference

12 December 2020

Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients

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12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

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12 December 2020

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

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12 December 2020

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

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12 December 2020

Novel missense and frameshift mutations in the adrenoleukodystrophy gene

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12 December 2020

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

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12 December 2020

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

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12 December 2020

Genomic organization of the adrenoleukodystrophy gene

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12 December 2020

CFTR as a cAMP-dependent regulator of sodium channels

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12 December 2020

Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)

1 reference

12 December 2020

Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion

1 reference

12 December 2020

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient

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12 December 2020

ABC Transporters: From Microorganisms to Man

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12 December 2020

Identification of a new frameshift mutation (1801delAG) in the ALD gene

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12 December 2020

Saccharomyces cerevisiae ABC proteins and their relevance to human health and disease

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12 December 2020

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

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12 December 2020

Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients

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12 December 2020

A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters

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12 December 2020

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity.

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12 December 2020

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

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12 December 2020

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

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12 December 2020

CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP

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12 December 2020

Complete inventory of the yeast ABC proteins

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12 December 2020

Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene

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12 December 2020

Mutational analysis of patients with X-linked adrenoleukodystrophy

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12 December 2020

A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation

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12 December 2020

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

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12 December 2020

The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily

1 reference

12 December 2020

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

1 reference

12 December 2020

A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene

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12 December 2020

Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations

1 reference

12 December 2020

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

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12 December 2020

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts

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12 December 2020

Restored expression of major histocompatibility class I molecules by gene transfer of a putative peptide transporter

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12 December 2020

Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system

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12 December 2020

X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters

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12 December 2020

Adrenoleukodystrophy: phenotypic variability and implications for therapy

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12 December 2020

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

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12 December 2020

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

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12 December 2020

Primary structure of human PMP69, a putative peroxisomal ABC-transporter

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12 December 2020

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

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12 December 2020

Identifiers

DOI

10.1023/A:1022535930009

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Dimensions Publication ID

28 July 2017

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