Article
A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity.
Clinical biochemistry - 1 May 2008
Di Pietro Valentina, Gambacurta Alessandra, Amorini Angela Maria, Finocchiaro Antonino, D'Urso Serena, Ceccarelli Lia, Tavazzi Barbara, Giardina Bruno, Lazzarino Giuseppe
Abstract excerpt
OBJECTIVE: To verify the effect of and to date the unknown T677C mutation of the human N-acetylaspartoacylase (hASPA) gene on the function of the mutated enzyme. DESIGN AND METHODS: Wild type and I226T-mutated proteins were expressed and purified from a transformed Escherichia coli colony. Enzymatic activities were measured in the presence of varying substrate concentrations. RESULTS: Whilst kinetic parameters of...
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