Mariarita Bertoldi

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 32

Top Topics

Molecular Dynamics Simulations

Congenital Heart Disease

Top Venues

Journal of inherited metabolic disease

International journal of molecular sciences

Journal of neurodevelopmental disorders

This page only lists publications with an associated author ORCID identifier.

Publications

Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar Saber, Henry Hing Cheong Lee, Mariarita Bertoldi, Gabrielle E McGinty, Melissa L DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mustafa Sahin, Phillip L Pearl
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. Journal of neurodevelopmental disorders 16 (1) (2024)
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar Saber, Henry Hing Cheong Lee, Mariarita Bertoldi, Gabrielle E McGinty, Melissa L DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mustafa Sahin, Phillip L Pearl
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. Journal of neurodevelopmental disorders 16 (1) (2024)
Giovanni Bisello, Rossella Franchini, Cristian Andres Carmona Carmona, Mariarita Bertoldi
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein. Journal of inherited metabolic disease (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Miroslava Didiasova, Samuele Cesaro, Simon Feldhoff, Ilaria Bettin, Nana Tiegel, Vera Füssgen, Mariarita Bertoldi, Ritva Tikkanen
Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency. International journal of molecular sciences 25 (10) (2024)
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar Saber, Henry Hing Cheong Lee, Mariarita Bertoldi, Gabrielle E McGinty, Melissa L DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mustafa Sahin, Phillip L Pearl
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. Journal of neurodevelopmental disorders 16 (1) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Miroslava Didiasova, Samuele Cesaro, Simon Feldhoff, Ilaria Bettin, Nana Tiegel, Vera Füssgen, Mariarita Bertoldi, Ritva Tikkanen
Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency. International journal of molecular sciences 25 (10) (2024)
Miroslava Didiasova, Samuele Cesaro, Simon Feldhoff, Ilaria Bettin, Nana Tiegel, Vera Füssgen, Mariarita Bertoldi, Ritva Tikkanen
Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency. International journal of molecular sciences 25 (10) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease (2024)
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar Saber, Henry Hing Cheong Lee, Mariarita Bertoldi, Gabrielle E McGinty, Melissa L DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mustafa Sahin, Phillip L Pearl
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. Journal of neurodevelopmental disorders 16 (1) (2024)
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar Saber, Henry Hing Cheong Lee, Mariarita Bertoldi, Gabrielle E McGinty, Melissa L DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mustafa Sahin, Phillip L Pearl
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. Journal of neurodevelopmental disorders 16 (1) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease (2024)
Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, Melissa L DiBacco, Erland Arning, Alexander Rotenberg, Henry Hing Cheong Lee, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mariarita Bertoldi, Phillip L Pearl
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Human genetics (2023)
Giovanni Bisello, Rui P Ribeiro, Massimiliano Perduca, Benny Danilo Belviso, Patrizia Polverino de Laureto, Alejandro Giorgetti, Rocco Caliandro, Mariarita Bertoldi
Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: implication in AADC deficiency. Protein science : a publication of the Protein Society (2023)
Ivana Badnjarevic, Kelly Moyer, Mariarita Bertoldi, Thomas Opladen, Lisa Flint
Navigating the Rare Neurotransmitter Disease Diagnosis: Insights from Patients and Health Care Professionals. Journal of inherited metabolic disease (2023)
Mariarita Bertoldi, Patrizia Polverino de Laureto
The Integrated Approach to Inherited Disorders in Neurotransmitters from Molecules to Systems. International journal of molecular sciences 23 (24) (2022)
Mariarita Bertoldi, Patrizia Polverino de Laureto
The Integrated Approach to Inherited Disorders in Neurotransmitters from Molecules to Systems. International journal of molecular sciences 23 (24) (2022)
Giovanni Bisello, Mariarita Bertoldi
Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population. International journal of molecular sciences 23 (19) (2022)
Mariarita Bertoldi, Patrizia Polverino de Laureto
The Integrated Approach to Inherited Disorders in Neurotransmitters from Molecules to Systems. International journal of molecular sciences 23 (24) (2022)
Mariarita Bertoldi, Patrizia Polverino de Laureto
The Integrated Approach to Inherited Disorders in Neurotransmitters from Molecules to Systems. International journal of molecular sciences 23 (24) (2022)
Giovanni Bisello, Katarzyna Kusmierska, Marcel M Verbeek, Jolanta Sykut-Cegielska, Michèl A A P Willemsen, Ron A Wevers, Krystyna Szymańska, Jarosław Poznanski, Jakub Drozak, Katarzyna Wertheim-Tysarowska, Agnieszka Magdalena Rygiel, Mariarita Bertoldi
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role. Cellular and molecular life sciences : CMLS 79 (6) (2022)
Giada Rossignoli, Karolin Krämer, Eleonora Lugarà, Haya Alrashidi, Simon Pope, Carmen De La Fuente Barrigon, Katy Barwick, Giovanni Bisello, Joanne Ng, John Counsell, Gabriele Lignani, Simon J R Heales, Mariarita Bertoldi, Serena Barral, Manju A Kurian
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies. Brain : a journal of neurology 144 (8) (2021)
Alessandro Mattè, Enrica Federti, Elena Tibaldi, Maria Luisa Di Paolo, Giovanni Bisello, Mariarita Bertoldi, Andrea Carpentieri, Pietro Pucci, Iana Iatchencko, Anand B Wilson, Veronica Riccardi, Angela Siciliano, Francesco Turrini, Dae Won Kim, Soo Young Choi, Anna Maria Brunati, Lucia De Franceschi
Tyrosine Phosphorylation Modulates Peroxiredoxin-2 Activity in Normal and Diseased Red Cells. Antioxidants (Basel, Switzerland) 10 (2) (2021)
Giovanni Bisello, Carmen Longo, Giada Rossignoli, Robert S Phillips, Mariarita Bertoldi
Oxygen reactivity with pyridoxal 5'-phosphate enzymes: biochemical implications and functional relevance. Amino acids 52 (8) (2020)
Alessandra Astegno, Carolina Conter, Mariarita Bertoldi, Paola Dominici
Structural Insights into the Heme Pocket and Oligomeric State of Non-Symbiotic Hemoglobins from Arabidopsis thaliana. Biomolecules 10 (12) (2020)
Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine Jung-Klawitter, Oya Kuseyri Hübschmann, Julian Schröter, Thomas Opladen, Ritva Tikkanen
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. International journal of molecular sciences 21 (22) (2020)
Giada Rossignoli, Alessandro Grottesi, Giovanni Bisello, Riccardo Montioli, Carla Borri Voltattorni, Alessandro Paiardini, Mariarita Bertoldi
Cysteine 180 Is a Redox Sensor Modulating the Activity of Human Pyridoxal 5'-Phosphate Histidine Decarboxylase. Biochemistry 57 (44) (2018)
Giada Rossignoli, Robert S Phillips, Alessandra Astegno, Marta Menegazzi, Carla Borri Voltattorni, Mariarita Bertoldi
Phosphorylation of pyridoxal 5'-phosphate enzymes: an intriguing and neglected topic. Amino acids 50 (2) (2017)