Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

30 Mar 2005

Abstract excerpt

Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN) and AMN with cerebral demyelination (AMN-C) are the main phenotypic variants of X-linked adrenoleukodystrophy (ALD). It is caused by mutations in the ABCD1 gene encoding a half-size peroxisomal transporter that has to dimerize to become functional. The biochemical hallmark of ALD is the accumulation of very-long-chain fatty acids (VLCFA)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Eicosanoids and Hypertension Pharmacology
Share to Nitric Oxide and Endothelin Effects
Share to Peroxisome Proliferator-Activated Receptors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 15800013
DOI: 10.1093/hmg/ddi140

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophyPMID 15800013Read ↗

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.Semantic proximity Read ↗

ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models.Semantic proximity Read ↗

X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.Semantic proximity Read ↗

[X-linked adrenoleukodystrophy].Semantic proximity Read ↗

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.Semantic proximity Read ↗

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapiesSemantic proximity Read ↗

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the LiteratureSemantic proximity Read ↗

Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review.Semantic proximity Read ↗

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.Semantic proximity Read ↗

Identification of two novel mutations of ABCD1 gene in pedigrees with X‐linked adrenoleukodystrophySemantic proximity Read ↗

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.Semantic proximity Read ↗

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.