IRIS PubliCatt
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EnglishOBJECTIVE: 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 wild type hASPA were in line with data in literature, I226T-mutated hASPA showed no enzymatic activity. CONCLUSION: Data indicated that this new mutation might be responsible in homozygosis for the phenotype corresponding to Canavan disease.
Tavazzi, B., Di Pietro, V., Amorini, A. M., Giardina, B., Lazzarino, G., A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity, <<CLINICAL BIOCHEMISTRY>>, 2008; (41): 611-615 [http://hdl.handle.net/10807/16383]
| Autori: | ||
| Titolo: | A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity | |
| Data di pubblicazione: | 2008 | |
| Abstract: | 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 wild type hASPA were in line with data in literature, I226T-mutated hASPA showed no enzymatic activity. CONCLUSION: Data indicated that this new mutation might be responsible in homozygosis for the phenotype corresponding to Canavan disease. | |
| Lingua: | Inglese | |
| Rivista: | ||
| Citazione: | Tavazzi, B., Di Pietro, V., Amorini, A. M., Giardina, B., Lazzarino, G., A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity, <<CLINICAL BIOCHEMISTRY>>, 2008; (41): 611-615 [http://hdl.handle.net/10807/16383] | |
| Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |
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