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Mariarita Bertoldi

Docenti di ruolo di IIa fascia

University of Verona

Italy

Research Interests

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Articles (20)

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2026

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2024

Collaborators (13)

Pingping Song

Research Associate Professor

Northwestern University Feinberg School of Medicine

UNITED STATES

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Dorianna Sandonà

Associate Professor of Molecular Biology

University of Padova

ITALY

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Roberta Russo

Associate Professor of Medical Genetics

Università degli Studi di Napoli Federico II

ITALY

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David B. Berkowitz

Elmer H. & Ruby M. Cordes Professor

University of Nebraska - Lincoln

UNITED STATES

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Angelo D'Alessandro

Full Professor

University of Colorado Anschutz Medical Campus

UNITED STATES

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Massimiliano PERDUCA

Associate Professor

University of Verona

ITALY

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Ritva Tikkanen

GERMANY

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Riccardo Masson

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Gianluca Molla

University of Insubria

ITALY

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ANDREA MATTAREI

Associate Professor

Università degli Studi della Campania Luigi Vanvitelli Scuola di Medicina e Chirurgia

ITALY

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MUSTAFA SAHIN

Professor

Boston Children's Hospital

UNITED STATES

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Tessa Wassenberg

Vrije Universiteit Brussel

BELGIUM

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Davide Tonduti

Assistant Professor

Università degli Studi di Torino

ITALY

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Mariarita Bertoldi

Research Interests

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Articles (20)

Deciphering the molecular impact of ALDH5A1 missense variants in succinic semialdehyde dehydrogenase deficiency through combined in vitro and in silico approaches

Histone deacetylases in Duchenne muscular dystrophy: a role in the mechanism of disease and a target for inhibition

Molecular heterogeneity in AADC deficiency: Variant-dependent effects on AADC activity

N-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson's disease models

Structural and functional insights into aromatic amino acid decarboxylase deficiency variants producing an α-synuclein-targeting L-Dopa–pyridoxal 5′-phosphate cyclic adduct

Protometabolic functions of pyridoxal: A link between early amino acid synthesis and enzyme evolution

Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation

alpha-Hydrazino Acids Inhibit Pyridoxal Phosphate-Dependent Decarboxylases via "Catalytically Correct" Ketoenamine Tautomers: A Special Motif for Chemical Biology & Drug Discovery?

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case

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

Central Dysmyelination in SSADH‐Deficient Humans and Mice

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

A crucial active site network of titratable residues guides catalysis and NAD+ binding in human succinic semialdehyde dehydrogenase

Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein

An attenuated, adult case of AADC deficiency demonstrated by protein characterization

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency

Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Collaborators (13)

Pingping Song

Dorianna Sandonà

Roberta Russo

David B. Berkowitz

Angelo D'Alessandro

Massimiliano PERDUCA

Ritva Tikkanen

Riccardo Masson

Gianluca Molla

ANDREA MATTAREI

MUSTAFA SAHIN

Tessa Wassenberg

Davide Tonduti

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