Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.

@article{Asheuer2005DecreasedEO,
  title={Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.},
  author={Muriel Asheuer and Ivan Bi{\'e}che and Ingrid Laurendeau and Ann Moser and Bernard Hainque and Michel Vidaud and Patrick R Aubourg},
  journal={Human molecular genetics},
  year={2005},
  volume={14 10},
  pages={1293-303}
}
Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN) and AMN with cerebral demyelination (AMN-C) are the main phenotypic variants of X-linked adrenoleukodystrophy (ALD). It is caused by mutations in the ABCD1 gene encoding a half-size peroxisomal transporter that has to dimerize to become functional. The biochemical hallmark of ALD is the accumulation of very-long-chain fatty acids (VLCFA) in plasma and tissues. However, there is no correlation between the ALD phenotype… CONTINUE READING

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