Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy (Q35882708)

10 August 2017

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

1 reference

10 August 2017

1 reference

Feigenbaum V

1

1 reference

10 August 2017

Lombard-Platet G

2

1 reference

10 August 2017

Guidoux S

3

1 reference

10 August 2017

Sarde CO

4

1 reference

10 August 2017

Mandel JL

5

1 reference

10 August 2017

Aubourg P

6

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 June 1996

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

58

1 reference

10 August 2017

1135-1144

1 reference

10 August 2017

6

1 reference

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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

Genomic organization of the adrenoleukodystrophy gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

The yeast YKL741 gene situated on the left arm of chromosome XI codes for a homologue of the human ALD protein.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

Altered expression of ALDP in X-linked adrenoleukodystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

Mutational analysis of patients with X-linked adrenoleukodystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

Molecular analysis of X-linked adrenoleukodystrophy patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

The red-green visual pigment gene region in adrenoleukodystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

Adrenoleukodystrophy: phenotypic variability and implications for therapy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

ABC Transporters: From Microorganisms to Man

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915047

Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins

24 September 2018

1 reference

12 December 2020

Peroxisomes proliferate

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Capillary gas-liquid chromatographic-mass spectrometric measurement of very long chain (C22 to C26) fatty acids in microliter samples of plasma

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

10 August 2017

1 reference