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Article

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

Human molecular genetics - 1 Dec 2004

Pujol Aurora, Ferrer Isidre, Camps Carme, Metzger Elisabeth, Hindelang Colette, Callizot Noëlle, Ruiz Montse, Pàmpols Teresa, Giròs Marisa, Mandel Jean Louis

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disease caused by loss of function of the peroxisomal transporter ABCD1 (ALD), which results in accumulation of very long chain fatty acids (VLCFAs) in organs and serum, central demyelination and peripheral axonopathy and Addison's disease. Knockout of the ALD gene in the mouse (ALD(-)) results in an adrenomyeloneuropathy-like disease (a late...

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

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Source

Identifiers

PMID: 15489218
DOI: 10.1093/hmg/ddh323

Genes

ABCD1
ABCD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.PMID 15489218Read ↗

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

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