BERTOLDI, Mariarita
BERTOLDI, Mariarita
DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO
A crucial active site network of titratable residues guides catalysis and NAD+ binding in human succinic semialdehyde dehydrogenase
2025-01-01 Cesaro, Samuele; Orlando, Marco; Bettin, Ilaria; Longo, Carmen; Spagnoli, Giulia; Polverino de Laureto, Patrizia; Molla, Gianluca; Bertoldi, Mariarita
A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis
2016-01-01 Lupo, Francesca; Tibaldi, Elena; Matte', Alessandro; Sharma, Alok K.; Brunati, Anna Maria; Alper, Seth L.; Zancanaro, Carlo; Benati, Donatella; Siciliano, Angela; Bertoldi, Mariarita; Zonti, Francesca; Storch, Alexander; Walker, Ruth H.; Danek, Adrian; Bader, Benedikt; Hermann, Andreas; DE FRANCESCHI, Lucia
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies
2019-01-01 Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Borri Voltattorni, Carla
A quinonoid is an intermediate of oxidative deamination reaction catalyzed by Dopa decarboxylase
2005-01-01 Bertoldi, Mariarita; Cellini, Barbara; Maras, B; Voltattorni, Carla
Active site serine-193 modulates activity of human aromatic amino acid decarboxylase
2023-01-01 Bisello, Giovanni; Rossignoli, Giada; Choi, Sarah; Phillips, Robert S; Bertoldi, Mariarita
An attenuated, adult case of AADC deficiency demonstrated by protein characterization
2024-01-01 Bisello, Giovanni; Saris, Christiaan G. J.; Franchini, Rossella; Verbeek, Marcel M.; Willemsen, Michel A. A. P.; Perduca, Massimiliano; Bertoldi, Mariarita
An engineered folded PLP-bound monomer of Treponema denticola cystalysin reveals the effect of the dimeric structure on the catalytic properties of the enzyme
2009-01-01 Montioli, Riccardo; Cellini, Barbara; Bertoldi, Mariarita; Paiardini, A.; Voltattorni, Carla
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
2019-01-01 Himmelreich, Nastassja; Montioli, Riccardo; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Gemperle, Corinne; Berner, Todd; Hyland, Keith; Thöny, Beat; Hoffmann, Georg F; Borri Voltattorni, Carla; Blau, Nenad
Aromatic amino acid methyl ester analogs form quinonoidal species with Dopa decarboxylase
1997-01-01 Moore, P. S.; Bertoldi, M.; Dominici, P.; Borri Voltattorni, C.
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies
2021-01-01 Rossignoli, G; Krämer, K; Lugarà, E; Alrashidi, H; Pope, S; De La Fuente Barrigon, C; Barwick, K; Bisello, G; Ng, J; Counsell, J; Lignani, G; Heales, Sjr; Bertoldi, M; Barral, S; Kurian, Ma.
Artificial Ribonuclease A oligomers degrade double-stranded RNA with efficiency that increases as a function of the size of the oligomer
1996-01-01 Bertoldi, Mariarita; Gotte, Giovanni; Sorrentino, S. AND LIBONATI M.
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency
2023-01-01 Tokatly Latzer, Itay; Hanson, Ellen; Bertoldi, Mariarita; García-Cazorla, Àngeles; Tsuboyama, Melissa; Macmullin, Paul; Rotenberg, Alexander; Roullet, Jean-Baptiste; Pearl, Phillip L
Behavior of fluorinated analogs of L-(3,4-dihydroxyphenyl)alanine and L-threo-(3,4-dihydroxyphenyl)serine as substrates for Dopa decarboxylase
2002-01-01 Voltattorni, Cb; Bertoldi, M; Bianconi, S; Deng, Wp; Wong, Kl; Kim, I; Herbert, B; Kirk, Kl
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants
2023-01-01 Cursio, Ida; Siliquini, Sabrina; Carducci, Claudia; Bisello, Giovanni; Mastrangelo, Mario; Leuzzi, Vincenzo; Bertoldi, Mariarita; Marini, Carla
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
2024-01-01 Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Afshar-Saber, Wardiya; Lee, Henry H C; Bertoldi, Mariarita; Mcginty, Gabrielle E; Dibacco, Melissa L; Arning, Erland; Tsuboyama, Melissa; Rotenberg, Alexander; Opladen, Thomas; Jeltsch, Kathrin; García-Cazorla, Àngels; Juliá-Palacios, Natalia; Gibson, K Michael; Sahin, Mustafa; Pearl, Phillip L
Compound heterozygosis in AADC deficiency and its complex phenotype in terms of AADC protein population
2022-01-01 Bisello, Giovanni; Bertoldi, Mariarita
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
2021-01-01 Longo, Carmen; Montioli, Riccardo; Bisello, Giovanni; Palazzi, Luana; Mastrangelo, Mario; Brennenstuhl, Heiko; de Laureto, Patrizia Polverino; Opladen, Thomas; Leuzzi, Vincenzo; Bertoldi, Mariarita
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
2024-01-01 Tokatly Latzer, Itay; Bertoldi, Mariarita; Blau, Nenad; Dibacco, Melissa L; Elsea, Sarah H; García-Cazorla, Àngels; Gibson, K Michael; Gropman, Andrea L; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Knerr, Ina; Lee, Henry H C; Malaspina, Patrizia; Mcconnell, Alice; Opladen, Thomas; Oppebøen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A; Roullet, Jean-Baptiste; Pearl, Phillip L
Cysteine 180 Is a Redox Sensor Modulating the Activity of Human Pyridoxal 5'-Phosphate Histidine Decarboxylase
2018-01-01 Rossignoli, Giada; Grottesi, Alessandro; Bisello, Giovanni; Montioli, Riccardo; Borri Voltattorni, Carla; Paiardini, Alessandro; Bertoldi, Mariarita
Deoxygenation affects tyrosine phosphoproteome of red cell membrane from patients with sickle cell disease
2010-01-01 Siciliano, Angela; Turrini, F.; Bertoldi, Mariarita; Matte', Alessandro; Pantaleo, A.; Olivieri, Oliviero; DE FRANCESCHI, Lucia
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A crucial active site network of titratable residues guides catalysis and NAD+ binding in human succinic semialdehyde dehydrogenase | 1-gen-2025 | Cesaro, Samuele; Orlando, Marco; Bettin, Ilaria; Longo, Carmen; Spagnoli, Giulia; Polverino de Laureto, Patrizia; Molla, Gianluca; Bertoldi, Mariarita | |
| A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis | 1-gen-2016 | Lupo, Francesca; Tibaldi, Elena; Matte', Alessandro; Sharma, Alok K.; Brunati, Anna Maria; Alper, Seth L.; Zancanaro, Carlo; Benati, Donatella; Siciliano, Angela; Bertoldi, Mariarita; Zonti, Francesca; Storch, Alexander; Walker, Ruth H.; Danek, Adrian; Bader, Benedikt; Hermann, Andreas; DE FRANCESCHI, Lucia | |
| A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies | 1-gen-2019 | Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Borri Voltattorni, Carla | |
| A quinonoid is an intermediate of oxidative deamination reaction catalyzed by Dopa decarboxylase | 1-gen-2005 | Bertoldi, Mariarita; Cellini, Barbara; Maras, B; Voltattorni, Carla | |
| Active site serine-193 modulates activity of human aromatic amino acid decarboxylase | 1-gen-2023 | Bisello, Giovanni; Rossignoli, Giada; Choi, Sarah; Phillips, Robert S; Bertoldi, Mariarita | |
| An attenuated, adult case of AADC deficiency demonstrated by protein characterization | 1-gen-2024 | Bisello, Giovanni; Saris, Christiaan G. J.; Franchini, Rossella; Verbeek, Marcel M.; Willemsen, Michel A. A. P.; Perduca, Massimiliano; Bertoldi, Mariarita | |
| An engineered folded PLP-bound monomer of Treponema denticola cystalysin reveals the effect of the dimeric structure on the catalytic properties of the enzyme | 1-gen-2009 | Montioli, Riccardo; Cellini, Barbara; Bertoldi, Mariarita; Paiardini, A.; Voltattorni, Carla | |
| Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook | 1-gen-2019 | Himmelreich, Nastassja; Montioli, Riccardo; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Gemperle, Corinne; Berner, Todd; Hyland, Keith; Thöny, Beat; Hoffmann, Georg F; Borri Voltattorni, Carla; Blau, Nenad | |
| Aromatic amino acid methyl ester analogs form quinonoidal species with Dopa decarboxylase | 1-gen-1997 | Moore, P. S.; Bertoldi, M.; Dominici, P.; Borri Voltattorni, C. | |
| Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies | 1-gen-2021 | Rossignoli, G; Krämer, K; Lugarà, E; Alrashidi, H; Pope, S; De La Fuente Barrigon, C; Barwick, K; Bisello, G; Ng, J; Counsell, J; Lignani, G; Heales, Sjr; Bertoldi, M; Barral, S; Kurian, Ma. | |
| Artificial Ribonuclease A oligomers degrade double-stranded RNA with efficiency that increases as a function of the size of the oligomer | 1-gen-1996 | Bertoldi, Mariarita; Gotte, Giovanni; Sorrentino, S. AND LIBONATI M. | |
| Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency | 1-gen-2023 | Tokatly Latzer, Itay; Hanson, Ellen; Bertoldi, Mariarita; García-Cazorla, Àngeles; Tsuboyama, Melissa; Macmullin, Paul; Rotenberg, Alexander; Roullet, Jean-Baptiste; Pearl, Phillip L | |
| Behavior of fluorinated analogs of L-(3,4-dihydroxyphenyl)alanine and L-threo-(3,4-dihydroxyphenyl)serine as substrates for Dopa decarboxylase | 1-gen-2002 | Voltattorni, Cb; Bertoldi, M; Bianconi, S; Deng, Wp; Wong, Kl; Kim, I; Herbert, B; Kirk, Kl | |
| Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants | 1-gen-2023 | Cursio, Ida; Siliquini, Sabrina; Carducci, Claudia; Bisello, Giovanni; Mastrangelo, Mario; Leuzzi, Vincenzo; Bertoldi, Mariarita; Marini, Carla | |
| Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder | 1-gen-2024 | Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Afshar-Saber, Wardiya; Lee, Henry H C; Bertoldi, Mariarita; Mcginty, Gabrielle E; Dibacco, Melissa L; Arning, Erland; Tsuboyama, Melissa; Rotenberg, Alexander; Opladen, Thomas; Jeltsch, Kathrin; García-Cazorla, Àngels; Juliá-Palacios, Natalia; Gibson, K Michael; Sahin, Mustafa; Pearl, Phillip L | |
| Compound heterozygosis in AADC deficiency and its complex phenotype in terms of AADC protein population | 1-gen-2022 | Bisello, Giovanni; Bertoldi, Mariarita | |
| Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins | 1-gen-2021 | Longo, Carmen; Montioli, Riccardo; Bisello, Giovanni; Palazzi, Luana; Mastrangelo, Mario; Brennenstuhl, Heiko; de Laureto, Patrizia Polverino; Opladen, Thomas; Leuzzi, Vincenzo; Bertoldi, Mariarita | |
| Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency | 1-gen-2024 | Tokatly Latzer, Itay; Bertoldi, Mariarita; Blau, Nenad; Dibacco, Melissa L; Elsea, Sarah H; García-Cazorla, Àngels; Gibson, K Michael; Gropman, Andrea L; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Knerr, Ina; Lee, Henry H C; Malaspina, Patrizia; Mcconnell, Alice; Opladen, Thomas; Oppebøen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A; Roullet, Jean-Baptiste; Pearl, Phillip L | |
| Cysteine 180 Is a Redox Sensor Modulating the Activity of Human Pyridoxal 5'-Phosphate Histidine Decarboxylase | 1-gen-2018 | Rossignoli, Giada; Grottesi, Alessandro; Bisello, Giovanni; Montioli, Riccardo; Borri Voltattorni, Carla; Paiardini, Alessandro; Bertoldi, Mariarita | |
| Deoxygenation affects tyrosine phosphoproteome of red cell membrane from patients with sickle cell disease | 1-gen-2010 | Siciliano, Angela; Turrini, F.; Bertoldi, Mariarita; Matte', Alessandro; Pantaleo, A.; Olivieri, Oliviero; DE FRANCESCHI, Lucia |