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Mutational Analysis of Aspartoacylase: Implications for Canavan Disease
Mutations that result in undetectable activity of aspartoacylase, which catalyzes the deacetylation of N-acetyl-L-aspartate, correlate with Canavan Disease, a neurodegenerative disorder usually fatal during childhood. The underlying biochemical mechanisms of how these mutations ablate activity are p...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1933483/ https://ncbi.nlm.nih.gov/pubmed/17391648 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.brainres.2007.02.069 |
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