Article
Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T.
Biochimie - 1 Dec 2016
Dindo Mirco, Montioli Riccardo, Busato Mirko, Giorgetti Alejandro, Cellini Barbara, Borri Voltattorni Carla
Abstract excerpt
In this work the dimerization process of the minor allelic form of human alanine glyoxylate aminotransferase, a pyridoxal 5'-phosphate enzyme, was investigated. Bioinformatic analyses followed by site-directed mutagenesis, size exclusion chromatography and catalytic activity experiments allowed us to identify Arg118, Phe238 and Phe240 as interfacial residues not essential for transaminase activity but important...
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