Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis
作者： Inderjit Singh , Aurora Pujol
DOI: 10.1111/J.1750-3639.2010.00392.X
关键词:
摘要: X-adrenoleukodystrophy (X-ALD) is a complex disease where inactivation of ABCD1 gene results in clinically diverse phenotypes, the fatal disorder cerebral ALD (cALD) or milder adrenomyeloneuropathy (AMN). Loss function defective beta oxidation very long chain fatty acids (VLCFA) resulting excessive accumulation VLCFA, biochemical "hall mark" X-ALD. At present, ABCD1-mediated mechanisms that determine different phenotype X-ALD are not well understood. The studies reviewed here suggest for "three-hit hypothesis" neuropathology cALD. An improved understanding molecular associated with these three phases cALD should facilitate development effective pharmacological therapeutics
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