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Article

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.

Biochemical and biophysical research communications - 5 Dec 2008

Maier Esther M, Mayerhofer Peter U, Asheuer Muriel, Köhler Wolfgang, Rothe Martina, Muntau Ania C, Roscher Adelbert A, Holzinger Andreas, Aubourg Patrick, Berger Johannes

Abstract excerpt

Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have investigated the possible role of the ABCD...

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Source

Identifiers

PMID: 18834860
DOI: 10.1016/j.bbrc.2008.09.092

Genes

ABCD2
ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18834860-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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