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

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.

Neuroscience research - 1 Aug 2015

Kallabi Fakhri, Hadj Salem Ikhlass, Ben Chehida Amel, Ben Salah Ghada, Ben Turkia Hadhami, Tebib Neji, Keskes Leila, Kamoun Hassen

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encodes a peroxisomal membrane protein: the adrenoleukodystrophy protein. The disease is characterized by high concentrations of very long-chain fatty acids in plasma, adrenal, testicular and nervous tissues. Various types of mutations have been identified in the ABCD1...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Adrenoleukodystrophy

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to ATP Binding Cassette Transporter, Subfamily D, Member 1

Share to ATP-Binding Cassette Transporters

Share to Introns

Share to Tunisia

Source

Identifiers

PMID: 25835712
DOI: 10.1016/j.neures.2015.03.005

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.PMID 25835712Read ↗

Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.Semantic proximity Read ↗

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.Semantic proximity Read ↗

A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.Semantic proximity Read ↗

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.Semantic proximity Read ↗

From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy.Semantic proximity Read ↗

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.Semantic proximity Read ↗

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

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

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

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

A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

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