(Q34390414)

1 August 2017

6 references

24 March 2019

22 April 2019

25 April 2019

28 November 2019

15 December 2019

6 July 2021

Pathophysiology of X-linked adrenoleukodystrophy (English)

1 reference

24316281

X-linked adrenoleukodystrophy

1 August 2017

main subject

5 references

24 March 2019

22 April 2019

25 April 2019

28 November 2019

15 December 2019

1 reference

28 November 2019

1 reference

15 December 2019

1 reference

ATP-binding cassette transporter

1 reference

6 July 2021

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

S Forss-Petter

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

F S Eichler

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

4 December 2013

1 reference

24316281

1 August 2017

1 March 2014

6 references

24 March 2019

22 April 2019

25 April 2019

28 November 2019

15 December 2019

6 July 2021

7 references

24 March 2019

22 April 2019

25 April 2019

28 November 2019

15 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

6 July 2021

98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

135-142

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

10 June 2020

copyright license

6 references

24 March 2019

22 April 2019

25 April 2019

28 November 2019

15 December 2019

on focus list of Wikimedia project

6 July 2021

ScienceSource

0 references

cites work

Glutathione imbalance in patients with X-linked adrenoleukodystrophy

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6 July 2018

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Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy

6 July 2018

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Microglial repopulation model reveals a robust homeostatic process for replacing CNS myeloid cells

6 July 2018

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Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy

6 July 2018

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6 July 2018

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No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy

6 July 2018

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Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity

6 July 2018

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Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?

6 July 2018

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Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.

6 July 2018

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Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients

6 July 2018

1 reference

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Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation

6 July 2018

1 reference

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Peroxisomal localization of the proopiomelanocortin-derived peptides beta-lipotropin and beta-endorphin

6 July 2018

1 reference

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Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

6 July 2018

1 reference

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Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy

6 July 2018

1 reference

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Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy

6 July 2018

1 reference

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Biochemical aspects of X-linked adrenoleukodystrophy.

6 July 2018

1 reference

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General aspects and neuropathology of X-linked adrenoleukodystrophy.

6 July 2018

1 reference

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The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

6 July 2018

1 reference

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A Reducing Substance Found in Chromophilic Adenomas and in the Normal Anterior Pituitary

6 July 2018

1 reference

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Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy

6 July 2018

1 reference

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Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method

6 July 2018

1 reference

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The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

6 July 2018

1 reference

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Oligodendroglial impact on axonal function and survival - a hypothesis

6 July 2018

1 reference

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From bone marrow to microglia: barriers and avenues

6 July 2018

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Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy

6 July 2018

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X-linked adrenoleukodystrophy.

6 July 2018

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The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage

6 July 2018

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X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.

6 July 2018

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Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy

6 July 2018

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Anti-ganglioside antibodies bind with enhanced affinity to gangliosides containing very long chain fatty acids

6 July 2018

1 reference

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ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

6 July 2018

1 reference

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Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy

6 July 2018

1 reference

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X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

6 July 2018

1 reference

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Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy

6 July 2018

1 reference

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Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

6 July 2018

1 reference

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Cytokine-induced accumulation of very long-chain fatty acids in rat C6 glial cells: implication for X-adrenoleukodystrophy.

6 July 2018

1 reference

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Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines

6 July 2018

1 reference

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Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

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

6 July 2018

1 reference

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A mouse model for X-linked adrenoleukodystrophy

6 July 2018

1 reference

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Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism

6 July 2018

1 reference

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Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

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

6 July 2018

1 reference

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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

6 July 2018

1 reference

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Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy

6 July 2018

1 reference

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The testis in adreno-leukodystrophy

6 July 2018

1 reference

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Possible role of ceramide in defining structure and function of membrane glycolipids

6 July 2018

1 reference

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Fetal adrenoleukodystrophy: the significance of pathologic lesions in adrenal gland and testis

6 July 2018

1 reference

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Adreno-leukodystrophy (sex-linked Schilder disease). Ultrastructural demonstration of specific cytoplasmic inclusions in the central nervous system

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Very-late-onset adrenoleukodystrophy: possible precipitation of demyelination by cerebral contusion.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Molecular Species of Phosphatidylcholine Containing Very Long Chain Fatty Acids in Human Brain: Enrichment in X-Linked Adrenoleukodystrophy Brain and Diseases of Peroxisome Biogenesis Brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Adrenoleukodystrophy: phenotypic variability and implications for therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Adrenoleukodystrophy. A clinical and pathological study of 17 cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Axonal integrity in the absence of functional peroxisomes from projection neurons and astrocytes.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Head trauma can initiate the onset of adreno-leukodystrophy.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Adreno-leukodystrophy: oxidative stress of mice and men.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Adreno-leukodystrophy: a personal historical note.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

The four murine peroxisomal ABC-transporter genes differ in constitutive, inducible and developmental expression.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Retinal venous sheathing in optic neuritis. Its significance for the pathogenesis of multiple sclerosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

A role for myelin-associated peroxisomes in maintaining paranodal loops and axonal integrity

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988840

Familial Addison's disease with spastic paraplegia

9 December 2018

1 reference

12 December 2020

Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion

1 reference

12 December 2020

Retinal periphlebitis and retinitis in multiple sclerosis. I. Pathologic characteristics

1 reference

12 December 2020

ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN

1 reference

12 December 2020

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

1 reference

12 December 2020

Testicular dysfunction in adrenomyeloneuropathy

1 reference

12 December 2020

Primary oligodendrocyte death does not elicit anti-CNS immunity

1 reference

12 December 2020

Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture

1 reference

12 December 2020

Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy

1 reference

12 December 2020

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

1 reference

12 December 2020

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

1 reference

12 December 2020

10.1016/J.BIOCHI.2013.11.023

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

24316281

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24316281%20AND%20SRC:MED&resulttype=core&format=json