Article
Biochemical aspects of X-linked adrenoleukodystrophy.
Brain pathology (Zurich, Switzerland) - 1 Jul 2010
Kemp Stephan, Wanders Ronald
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is characterized by the accumulation of very long-chain fatty acids (VLCFA; >C22) in plasma and tissues. X-ALD is caused by mutations in the ABCD1 gene encoding ALDP, an adenosine triphosphate (ATP)-binding-cassette (ABC) transporter located in the peroxisomal membrane. In this paper, we describe the current knowledge on...
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