Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis
نویسندگان
چکیده
منابع مشابه
Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
X-adrenoleukodystrophy (X-ALD) is a complex disease where inactivation of ABCD1 gene results in clinically diverse phenotypes, the fatal disorder of cerebral ALD (cALD) or a milder disorder of adrenomyeloneuropathy (AMN). Loss of ABCD1 function results in defective beta oxidation of very long chain fatty acids (VLCFA) resulting in excessive accumulation of VLCFA, the biochemical "hall mark" of ...
متن کاملEarly oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder, characterized by progressive cerebral demyelination cerebral childhood adrenoleukodystrophy (CCALD) or spinal cord neurodegeneration (adrenomyeloneuropathy, AMN), adrenal insufficiency and accumulation of very long-chain fatty acids (VLCFA) in tissues. The disease is caused by mutations in the ABCD1 gene, which encodes...
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ژورنال
عنوان ژورنال: Brain Pathology
سال: 2009
ISSN: 1015-6305,1750-3639
DOI: 10.1111/j.1750-3639.2010.00392.x