Article
Genetic analysis of the X-linked Adrenoleukodystrophy <i>ABCD1 gene</i> in <i>Drosophila</i> uncovers a role in Peroxisomal dynamics
2024-09-25
Abstract excerpt
<h4>ABSTRACT</h4> X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 ( ABCD1) gene, leading to the accumulation of very long-chain fatty acids (VLCFAs). This disorder exhibits striking heterogeneity; some male patients develop an early childhood neuroinflammatory demyelination disorder, wh...
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Identifiers and source
- Literature Corpus work
- 92c06319-b8bc-565d-b7fa-479749071618
- DOI
- 10.1101/2024.09.23.614586
