Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease

Genetic mutations that severely diminish the activity of aspartoacylase (ASPA) result in the fatal brain dysmyelinating disorder, Canavan disease. There is no effective treatment. ASPA produces free acetate from the concentrated brain metabolite, N-acetylaspartate (NAA). Because acetyl coenzyme A is...

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Hlavní autoři: Arun, Peethambaran, Madhavarao, Chikkathur N., Moffett, John R., Hamilton, Kristen, Grunberg, Neil E., Ariyannur, Prasanth S., Gahl, William A., Anikster, Yair, Mog, Steven, Hallows, William C., Denu, John M., Namboodiri, Aryan M. A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Netherlands 2010
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2877317/
https://ncbi.nlm.nih.gov/pubmed/20464498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9100-z
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