Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease

Canavan's disease (CD) is a fatal, hereditary disorder of CNS development that has been linked to mutations in the gene for the enzyme aspartoacylase (ASPA) (EC 3.5.1.15). ASPA acts to hydrolyze N-acetylaspartate (NAA) into l-aspartate and acetate, but the connection between ASPA deficiency and...

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Hauptverfasser: Madhavarao, Chikkathur N., Arun, Peethambaran, Moffett, John R., Szucs, Sylvia, Surendran, Sankar, Matalon, Reuben, Garbern, James, Hristova, Diana, Johnson, Anne, Jiang, Wei, Namboodiri, M. A. Aryan
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2005
Schlagworte:
Biological Sciences
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC555036/
https://ncbi.nlm.nih.gov/pubmed/15784740
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0409184102
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