Production and characterization of recombinant pathogenic variants of human ornithine aminotransferase associted with Gyrate atrophy of choroid and retina

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  4. Production and characterization of recombinant pathogenic variants of human ornithine aminotransferase associted with Gyrate atrophy of choroid and retina
Starting date
December 1, 2019
Duration (months)
48
Managers or local contacts
Montioli Riccardo

Characterization in purified recombinant form of human ornithine aminotransferase (OAT), an enzyme associated with gyrate atrophy of the choroid and retina, a rare genetic disorder with autosomal recessive transmission. At molecular level, the project involves the characterization of both the native form and the pathogenic variants using spectroscopic, kinetic, chromatographic and computational techniques, and at the cellular level the use of appropriate cellular models 

Project participants

Riccardo Montioli
Temporary Assistant Professor
Research areas involved in the project
Biochemistry & Molecular Biology  (DBT)
Biochemistry & Molecular Biology  (DM)  (DM)
Biochemistry & Molecular Biology  (DNBM)  (DNBM)
Biochemistry & Molecular Biology  (DSVR)
Biomedicina
Sections
Biological Chemistry Section
Publications
Title Authors Year
Biochemical and bioinformatic studies of mutations of residues at the monomer-monomer interface of human ornithine aminotransferase leading to gyrate atrophy of choroid and retina Floriani, Fulvio; Borri Voltattorni, Carla; Cellini, Barbara; Montioli, Riccardo 2023
Molecular and cellular studies reveal folding defects of human ornithine aminotransferase variants associated with gyrate atrophy of the choroid and retina Montioli, Riccardo; Sgaravizzi, Giada; Desbats, Maria Andrea; Grottelli, Silvia; Voltattorni, Carla Borri; Salviati, Leonardo; Cellini, Barbara 2021
R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-RAY and NMR studies provide insight into its catalytic features Montioli, Riccardo; Paiardini, Alessandro; Giardina, Giorgio; Zanzoni, Serena; Cutruzzola, Francesca; Cellini, Barbara; Borri Voltattorni, Carla 2019
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina Montioli, Riccardo; Desbats, Maria Andrea; Grottelli, Silvia; Doimo, Mara; Bellezza, Ilaria; Borri Voltattorni, Carla; Salviati, Leonardo; Cellini, Barbara 2018
Oligomeric state and thermal stability of apo- and holo- human ornithine δ-aminotransferase Montioli, Riccardo; Zamparelli, Carlotta; Borri Voltattorni, Carla; Cellini, Barbara 2017

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