alexa Breakthrough in Understanding the Nature of Canavan Disease

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Breakthrough in Understanding the Nature of Canavan Disease

Canavan disease (CD) is a rare early-onset progressive spongiform leukodystrophy in brain of both humans and animals and is due to mutations in the gene encoding for aspartoacylase (ASPA), the enzyme that hydrolyzes N-acetyl-L-aspartate (NAA) [1]. In humans, the effects of CD are generally much more profound than in rodents exhibiting this same genetic lesion.

 

Citation: Baslow MH, Guilfoyle DN (2014) A Breakthrough in Understanding the Nature of Canavan Disease, a Human Spongiform Leukodystrophy due to Inborn Errors in the Gene Encoding for Aspartoacylase. Brain Disord Ther 4:170.

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