Publications by authors named "Maria Monticelli"

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Missense Variants in Nutrition-Related Genes: A Computational Study.
Giovanni Maria De Filippis, Maria Monticelli, Bruno Hay Mele, Viola Calabrò

Int J Mol Sci· October 2025

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Computational strategies in nutrigenetics: Constructing a reference dataset of nutrition-associated genetic polymorphisms.
Giovanni Maria De Filippis, Maria Monticelli, Alessandra Pollice, Tiziana Angrisano, Bruno Hay Mele

J Biomed Inform· July 2025

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Beneficial effects of Glc-1,6-P modulation on mutant phosphomannomutase-2.
Maria Monticelli, Debora Paris, Maria Chiara Monti, Elva Morretta, Zuzana Pakanova

Biochim Biophys Acta Mol Cell Res· June 2025

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Bioinformatics-Driven Multi-Factorial Insight into α-Galactosidase Mutations.
Bruno Hay Mele, Federica Rossetti, Giuseppina Andreotti, Maria Vittoria Cubellis, Simone Guerriero, Maria Monticelli

Int J Mol Sci· June 2025

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Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.
Bruno Hay Mele, Jessica Bovenzi, Giuseppina Andreotti, Maria Vittoria Cubellis, Maria Monticelli

Molecules· June 2025

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Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation.
Maria Monticelli, Bruno Hay Mele, Demi Marie Wright, Simone Guerriero, Giuseppina Andreotti

Biochimie· July 2024

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ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts.
Maria Monticelli, Demi Marie Wright, Maria Vittoria Cubellis, Giuseppina Andreotti

Biochim Biophys Acta Gen Subj· February 2024

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Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat.
Bruno Hay Mele, Federica Rossetti, Maria Vittoria Cubellis, Maria Monticelli, Giuseppina Andreotti

Genes (Basel)· February 2024

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Oxidoreductases and metal cofactors in the functioning of the earth.
Bruno Hay Mele, Maria Monticelli, Serena Leone, Deborah Bastoni, Bernardo Barosa

Essays Biochem· August 2023

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Congenital disorders of glycosylation: narration of a story through its patents.
Maria Monticelli, Tania D'Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti

Orphanet J Rare Dis· August 2023

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Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.
Ilaria Iacobucci, Bruno Hay Mele, Flora Cozzolino, Vittoria Monaco, Chiara Cimmaruta, Maria Monticelli

Int J Mol Sci· February 2023

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Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease.
Maria Monticelli, Bruno Hay Mele, Mariateresa Allocca, Ludovica Liguori, Jan Lukas

Int J Mol Sci· January 2023

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Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.
Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli, Joy W Norris, Richard Steet

Elife· October 2022

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Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.
Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff

Orphanet J Rare Dis· July 2022

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Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones.
Maria Monticelli, Ludovica Liguori, Mariateresa Allocca, Andrea Bosso, Giuseppina Andreotti

Int J Mol Sci· May 2022

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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Laura Pignata, Francesco Cecere, Ankit Verma, Bruno Hay Mele, Maria Monticelli

Clin Epigenetics· May 2022

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Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol.
Supansa Pantoom, Larissa Hules, Christopher Schöll, Andranik Petrosyan, Maria Monticelli

Int J Mol Sci· March 2022

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Human Cryptic Host Defence Peptide GVF27 Exhibits Anti-Infective Properties against Biofilm Forming Members of the Complex.
Andrea Bosso, Rosa Gaglione, Rocco Di Girolamo, Edwin J A Veldhuizen, Pilar García-Vello, Maria Monticelli

Pharmaceuticals (Basel)· February 2022

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Use of Inotropics by Peripheral Vascular Line in the First Hour of Treatment of Pediatric Septic Shock: Experience at an Emergency Department.
Guillermo Kohn-Loncarica, Gabriela Hualde, Ana Fustiñana, María Fernanda Monticelli, Graciela Reinoso

Pediatr Emerg Care· January 2022

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Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Maria Monticelli, Bruno Hay Mele, Giuseppina Andreotti, Maria Vittoria Cubellis, Guglielmo Riccio

Eur J Med Genet· June 2021

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Protective Role of a Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.
Maria Monticelli, Bruno Hay Mele, Elisa Benetti, Chiara Fallerini, Margherita Baldassarri

Genes (Basel)· April 2021

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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Maria Vittoria Cubellis, Laura Pignata, Ankit Verma, Angela Sparago, Rosita Del Prete, Maria Monticelli

Clin Epigenetics· September 2020

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Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach.
Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, Maria Vittoria Cubellis, Bruno Hay Mele

BMC Bioinformatics· August 2020

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Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations.
Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, Bruno Hay Mele, Jan Lukas

Int J Mol Sci· January 2020

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β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG.
Maria Monticelli, Ludovica Liguori, Mariateresa Allocca, Giuseppina Andreotti, Maria Vittoria Cubellis

Int J Mol Sci· August 2019

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