1990, B.S. Chemistry (with top marks), University of Naples “Federico II”, Italy
1996, Ph.D. Biochemistry, University of Naples “Federico II”, Italy
From27 December 2001, Researcher at the Institute of Biomolecular Chemistry- National Research Council of Italy
RECENT SCIENTIFIC INTERESTS
Pharmacological chaperones: identification of targets and development of drugs. Fabry disease and PMM2-CDG (congenital disorder of glycosylation Ia or Jaken disease).
Purification and characterization of proteins/enzymes for biotechnological applications: Glycosyl hydrolases from marine organisms and exploitation of their potential for biotechnological applications (fine and pharmaceutical chemistry, agrochemistry, and so on). Biomolecules (proteins, lipids, ect.) from biomaterials.
Application of NMR spectroscopy to metabolomic studies and to structural characterization of proteins and peptides.
Skills
Pharmacological chaperones
Protein Expression and Purification
Enzymatic Assay
Peptide/Protein Structure
Thermal Shift Assay
NMR
Fabry disease
PMM2-CDG
Publications
1. Monticelli M, Hay Mele B, Benetti E, Fallerini C, Baldassarri M, Furini S, Frullanti E, Mari F, GEN-COVID Multicenter Study, Andreotti G, Cubellis MV, Renieri A. Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women. Genes. 2021; 12(4):596. https://doi.org/10.3390/genes12040596
2. Monticelli M, Liguori L, Allocca M, Andreotti G*, Cubellis MV. 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. Int. J. Mol. Sci. 2019, 20(17), 4164. https://doi.org/10.3390/ijms20174164
3. Citro V, Cimmaruta C, Monticelli M, Riccio G, Hay Mele B, Cubellis MV, Andreotti G. The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers. Int J Mol Sci. 2018 Jul 30;19(8). doi: 10.3390/ijms19082218
4. Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, and Andreotti G. The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations. Int. J. Mol. Sci. 2016, 17(12), 2010; doi:10.3390/ijms17122010
5. Citro V, Peña-Garcia J, den-Haan H, Perez-Sanchez H, Del Prete R, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G. Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease. PLOS ONE | DOI:10.1371/journal.pone.0165463 October 27, 2016
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