Article
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.
The Biochemical journal - 14 Dec 2009
Wiame Elsa, Tyteca Donatienne, Pierrot Nathalie, Collard François, Amyere Mustapha, Noel Gaëtane, Desmedt Jonathan, Nassogne Marie-Cécile, Vikkula Miikka, Octave Jean-Noël, Vincent Marie-Françoise, Courtoy Pierre J, Boltshauser Eugen, van Schaftingen Emile
Abstract excerpt
The brain-specific compound NAA (N-acetylaspartate) occurs almost exclusively in neurons, where its concentration reaches approx. 20 mM. Its abundance is determined in patients by MRS (magnetic resonance spectroscopy) to assess neuronal density and health. The molecular identity of the NAT (N-acetyltransferase) that catalyses NAA synthesis has remained unknown, because the enzyme is membrane-bound and difficult...
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