title: A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity.
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.
  
  
  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.
  
  
  CONCLUSIONS
  Data indicated that this new mutation might be responsible in homozygosis for the phenotype corresponding to Canavan disease.
authors.affiliation: Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome Sacro Cuore, Rome, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Di Pietro
authors.forename: Alessandra
authors.initials: A
authors.lastname: Gambacurta
authors.forename: Angela Maria
authors.initials: AM
authors.lastname: Amorini
authors.forename: Antonino
authors.initials: A
authors.lastname: Finocchiaro
authors.forename: Serena
authors.initials: S
authors.lastname: D'Urso
authors.forename: Lia
authors.initials: L
authors.lastname: Ceccarelli
authors.forename: Barbara
authors.initials: B
authors.lastname: Tavazzi
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lazzarino
mesh_terms: D000581:Amidohydrolases / Q000096:biosynthesis / Q000235:genetics* / Q000302:isolation & purification; D019943:Amino Acid Substitution / Q000235:genetics; D017825:Canavan Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D002675:Child, Preschool; D003596:Cytosine; D004789:Enzyme Activation / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D016297:Mutagenesis, Site-Directed; D009154:Mutation / Q000235:genetics*; D013941:Thymine
chemical_list: D003596:Cytosine; D000581:Amidohydrolases; C019751:aspartoacylase; D013941:Thymine