Mariarita Bertoldi
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Explore the profile of Mariarita Bertoldi including associated specialties, affiliations and a list of published articles.
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73
Citations
851
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Recent Articles
1.
Siciliano A, DAlessandro A, Matte A, Bisello G, Bertoldi M, Dzieciatkowska M, et al.
Blood Adv
. 2025 Mar;
PMID: 40085946
beta-thalassemia (beta-thal) is a worldwide hereditary red cell disorder characterized by severe chronic anemia. Recently, the pyruvate kinase (PK) activator mitapivat has been shown to improve anemia and ineffective erythropoiesis...
2.
Bertoldi M, Molla G
FEBS J
. 2025 Mar;
PMID: 40053440
In the framework of studies on protometabolism, Schlikker et al. characterized the conversion of pyridoxal to pyridoxamine under conditions mimicking the ones likely existing at the origin of metabolism. These...
3.
Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco M, Aygun D, Afacan O, et al.
Mol Genet Metab
. 2025 Feb;
144(3):109051.
PMID: 39919676
Background And Objectives: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder resulting in hyper-physiologic concentrations of the neurotransmitter γ-aminobutyrate (GABA). This study aims to provide the most comprehensive...
4.
Strehle E, Battini R, Gowda V, Kuster A, Amin S, Bertoldi M, et al.
Genet Test Mol Biomarkers
. 2025 Jan;
29(1):12-18.
PMID: 39841990
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino...
5.
Cesaro S, Orlando M, Bettin I, Longo C, Spagnoli G, Polverino de Laureto P, et al.
Protein Sci
. 2024 Dec;
34(1):e70024.
PMID: 39731543
Human succinic semialdehyde dehydrogenase is a mitochondrial enzyme fundamental in the neurotransmitter γ-aminobutyric acid catabolism. It catalyzes the NAD-dependent oxidative degradation of its derivative, succinic semialdehyde, to succinic acid. Mutations...
6.
Bisello G, Franchini R, Carmona C, Bertoldi M
J Inherit Metab Dis
. 2024 Aug;
48(1):e12791.
PMID: 39166734
AADC deficiency is a severe neurometabolic inherited rare disorder due to the absence or decrease of dopamine and serotonin levels, causing deep motor and neurodevelopmental impairments. The disease is often...
7.
Didiasova M, Cesaro S, Feldhoff S, Bettin I, Tiegel N, Fussgen V, et al.
Int J Mol Sci
. 2024 May;
25(10).
PMID: 38791277
Succinic semialdehyde dehydrogenase (SSADH) is a mitochondrial enzyme involved in the catabolism of the neurotransmitter γ-amino butyric acid. Pathogenic variants in the gene encoding this enzyme cause SSADH deficiency, a...
8.
Opladen T, Bertoldi M
J Inherit Metab Dis
. 2024 May;
47(3):409-410.
PMID: 38747202
No abstract available.
9.
Tokatly Latzer I, Roullet J, Afshar-Saber W, Lee H, Bertoldi M, McGinty G, et al.
J Neurodev Disord
. 2024 Apr;
16(1):21.
PMID: 38658850
Background: Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children's Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including...
10.
Lee H, Tokatly Latzer I, Bertoldi M, Gao G, Pearl P, Sahin M, et al.
J Inherit Metab Dis
. 2024 Apr;
47(3):476-493.
PMID: 38581234
Neurodevelopment is a highly organized and complex process involving lasting and often irreversible changes in the central nervous system. Inherited disorders of neurotransmission (IDNT) are a group of genetic disorders...