Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry
Montioli, Riccardo, Borri Voltattorni, Carla
Published in International journal of molecular sciences (19.03.2021)
Published in International journal of molecular sciences (19.03.2021)
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Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects
Montioli, Riccardo, Bellezza, Ilaria, Desbats, Maria Andrea, Borri Voltattorni, Carla, Salviati, Leonardo, Cellini, Barbara
Published in Biochimica et biophysica acta. Proteins and proteomics (01.01.2021)
Published in Biochimica et biophysica acta. Proteins and proteomics (01.01.2021)
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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
Published in International journal of molecular sciences (08.02.2023)
Published in International journal of molecular sciences (08.02.2023)
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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
Published in The FEBS journal (01.07.2019)
Published in The FEBS journal (01.07.2019)
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Journal Article
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations
Montioli, Riccardo, Janson, Giacomo, Paiardini, Alessandro, Bertoldi, Mariarita, Borri Voltattorni, Carla
Published in IUBMB life (01.03.2018)
Published in IUBMB life (01.03.2018)
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Journal Article
New Insights Emerging from Recent Investigations on Human Group II Pyridoxal 5'-Phosphate Decarboxylases
Paiardini, Alessandro, Giardina, Giorgio, Rossignoli, Giada, Voltattorni, Carla Borri, Bertoldi, Mariarita
Published in Current medicinal chemistry (01.01.2017)
Published in Current medicinal chemistry (01.01.2017)
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Journal Article
Folding Defects Leading to Primary Hyperoxaluria
Oppici, Elisa, Dindo, Mirco, Conter, Carolina, Borri Voltattorni, Carla, Cellini, Barbara
Published in Handbook of experimental pharmacology (01.01.2018)
Published in Handbook of experimental pharmacology (01.01.2018)
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Journal Article
Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications
Cellini, Barbara, Bertoldi, Mariarita, Montioli, Riccardo, Paiardini, Alessandro, Borri Voltattorni, Carla
Published in Biochemical journal (15.11.2007)
Published in Biochemical journal (15.11.2007)
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Journal Article
Identification by virtual screening and in vitro testing of human DOPA decarboxylase inhibitors
Daidone, Frederick, Montioli, Riccardo, Paiardini, Alessandro, Cellini, Barbara, Macchiarulo, Antonio, Giardina, Giorgio, Bossa, Francesco, Borri Voltattorni, Carla
Published in PloS one (23.02.2012)
Published in PloS one (23.02.2012)
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Journal Article
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation
Montioli, Riccardo, Roncador, Alessandro, Oppici, Elisa, Mandrile, Giorgia, Giachino, Daniela Francesca, Cellini, Barbara, Borri Voltattorni, Carla
Published in Human molecular genetics (15.11.2014)
Published in Human molecular genetics (15.11.2014)
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Journal Article
Cofactor-dependent conformational heterogeneity of GAD65 and its role in autoimmunity and neurotransmitter homeostasis
Kass, Itamar, Hoke, David E, Costa, Mauricio G S, Reboul, Cyril F, Porebski, Benjamin T, Cowieson, Nathan P, Leh, Hervé, Pennacchietti, Eugenia, McCoey, Julia, Kleifeld, Oded, Borri Voltattorni, Carla, Langley, David, Roome, Brendan, Mackay, Ian R, Christ, Daniel, Perahia, David, Buckle, Malcolm, Paiardini, Alessandro, De Biase, Daniela, Buckle, Ashley M
Published in Proceedings of the National Academy of Sciences - PNAS (24.06.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (24.06.2014)
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The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase
Montioli, Riccardo, Fargue, Sonia, Lewin, Jackie, Zamparelli, Carlotta, Danpure, Christopher J., Borri Voltattorni, Carla, Cellini, Barbara
Published in The international journal of biochemistry & cell biology (01.03.2012)
Published in The international journal of biochemistry & cell biology (01.03.2012)
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A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies
Montioli, Riccardo, Battini, Roberta, Paiardini, Alessandro, Tolve, Manuela, Bertoldi, Mariarita, Carducci, Carla, Leuzzi, Vincenzo, Borri Voltattorni, Carla
Published in Molecular genetics and metabolism (01.06.2019)
Published in Molecular genetics and metabolism (01.06.2019)
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Journal Article
Cysteine 180 Is a Redox Sensor Modulating the Activity of Human Pyridoxal 5′-Phosphate Histidine Decarboxylase
Rossignoli, Giada, Grottesi, Alessandro, Bisello, Giovanni, Montioli, Riccardo, Borri Voltattorni, Carla, Paiardini, Alessandro, Bertoldi, Mariarita
Published in Biochemistry (Easton) (06.11.2018)
Published in Biochemistry (Easton) (06.11.2018)
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Journal Article
Radiation damage at the active site of human alanine:glyoxylate aminotransferase reveals that the cofactor position is finely tuned during catalysis
Giardina, Giorgio, Paiardini, Alessandro, Montioli, Riccardo, Cellini, Barbara, Voltattorni, Carla Borri, Cutruzzolà, Francesca
Published in Scientific reports (15.09.2017)
Published in Scientific reports (15.09.2017)
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Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to Group II decarboxylases
Giardina, Giorgio, Montioli, Riccardo, Gianni, Stefano, Cellini, Barbara, Paiardini, Alessandro, Voltattorni, Carla Borri, Cutruzzolà, Francesca
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2011)
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