Mariarita Bertoldi

25PUBLICATIONS
55CO-AUTHORS
Developmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Cheminformatics and quantitative structure-activity relationshipsMetabolomic chemistryMechanobiology
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Publications (25)

|Jul 17, 2026
Deciphering the molecular impact of ALDH5A1 missense variants in succinic semialdehyde dehydrogenase deficiency through combined in vitro and in silico approaches.

|Jul 31, 2025
Central Dysmyelination in SSADH-Deficient Humans and Mice.

Itay Tokatly Latzer, Henry H C Lee, Edward Yang

|May 22, 2025
α-Hydrazino Acids Inhibit Pyridoxal Phosphate-Dependent Decarboxylases via "Catalytically Correct" Ketoenamine Tautomers: A Special Motif for Chemical Biology and Drug Discovery?

Jonathan M Baine, Yoan Duhoo, Tzanko Doukov

|May 03, 2025
The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.

Cristian Andres Carmona-Carmona, Giovanni Bisello, Rossella Franchini

|Mar 14, 2025
Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation.

Angela Siciliano, Angelo D'Alessandro, Alessandro Matte

|Mar 07, 2025
Protometabolic functions of pyridoxal: A link between early amino acid synthesis and enzyme evolution.

Mariarita Bertoldi, Gianluca Molla

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Frequent Collaborators

6 joint publications

Giovanni Bisello

5 joint publications

Itay Tokatly-Latzer

5 joint publications

Phillip L Pearl

4 joint publications

Alexander Rotenberg