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Article

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.

The Journal of clinical investigation - 15 Apr 2021

Raas Quentin, van de Beek Malu-Clair, Forss-Petter Sonja, Dijkstra Inge Me, Deschiffart Abigail, Freshner Briana C, Stevenson Tamara J, Jaspers Yorrick Rj, Nagtzaam Liselotte, Wanders Ronald Ja, van Weeghel Michel, Engelen-Lee Joo-Yeon, Engelen Marc, Eichler Florian, Berger Johannes, Bonkowsky Joshua L, Kemp Stephan

Abstract excerpt

X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease caused by mutations in ABCD1, the peroxisomal very long-chain fatty acid (VLCFA) transporter. ABCD1 deficiency results in accumulation of saturated VLCFAs. A drug screen using a phenotypic motor assay in a zebrafish ALD model identified chloroquine as the top hit. Chloroquine increased expression of stearoyl-CoA desaturase-1 (scd1),...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33690217
DOI: 10.1172/JCI142500
PMCID: PMC8262477

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.PMID 33690217Read ↗

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