Paula Leandro

Metabolism, Genetics and Proteins in Health & Disease

MetGenPro Group research lies at the interface of cell metabolism and gene expression. We focus on molecular genetics and alterations in metabolic pathways or enzyme structure/function in response to drugs, gene variants and disease states. Our studies range from basic biomedical research to translational areas addressing personalized medicine for better diagnosis, prognosis and therapies.

Molecular Genetics of Rare Diseases

We perform genotyping and mutation characterization as fundamental tools to confirm biochemical/enzymatic diagnosis of rare diseases, to infer disease severity and to design alternative/novel therapeutic approaches. We have been applying genotype-phenotype correlations to better tailor conventional and novel therapies (Metabolic Diseases&Health Care Sector).

Protein misfolding in Inherited Metabolic Disorders (IMD)

We apply molecular biology, biochemical and biophysical technologies to produce and characterize misfolded proteins. We investigate the modulation of enzyme structure/function by small molecules aiming the development of new therapies (Metabolic Diseases&Emerging Technologies).

The mitochondrial interactome for the understanding of disease

We address protein-metabolome interactions using mass spectrometry-based targeted metabolomics to understand mechanisms of disease, potential biomarkers, drug targets and drug candidates. Modulation of signaling metabolites and their role in intracellular communication are within the scope of our interests aiming to mitigate drug-induced unwanted effects in the pathogenesis of disease in the liver/brain axis (Metabolic Diseases&Oncology).


Promoting Patients Awareness and Quality of Life

Within IMD we are committed to reach patients, families and general public, by interacting with patients’ associations and with the Portuguese Society for Metabolic Disorders (SPDM). By providing adequate information and promoting dissemination of scientific data we intend to stimulate a patient-oriented and knowledge-driven environment, triggering a more informed and inclusive society (Metabolic Diseases&Professional and Patient Associations).

Lopes RR, Tomé CS, Russo R, Paterna R, Leandro J, Candeias NR, Teixeira M, Sousa PMF, Guedes RC, Vicente JB, Gois PMP, Leandro P. Modulation of human phenylalanine hydroxylase by 3-hydroxyquinolin-2(1H)-ones derivatives. Biomolecules 2021; 11(3):462. DOI: 10.3390/biom11030462
Pavlu-Pereira H, Silva MJ, Florindo C, Sequeira S, Ferreira AC, Duarte S, Rodrigues AL, Janeiro P, Oliveira A, Gomes D, Bandeira A, Martins E, Gomes R, Soares S, Tavares de Almeida I, Vicente JB, Rivera I. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients. Orphanet J Rare Dis 2020; 15(1), 298. DOI: 10.1186/s13023-020-01586-3
Tomé CS, Lopes RR, Sousa PMF, Amaro MP, Leandro J, Mertens H, Leandro P*, Vicente JB*. Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability. Sci Reports 2019; 9:13615. DOI: 10.1038/s41598-019-49944-x (*Last joined authors and corresponding authors)
Moedas MF, Adam AAA, Farelo M A, IJlst L, Chamuleau RAFM , Hoekstra R , Wanders RJA, Silva MFB. Advances in methods for characterization of hepatic urea cycle enzymatic activity in HepaRG cells using UPLC-MS/MS. Anal Biochem 2017; 535:47-55. DOI: 10.1016/j.ab.2017.07.025
Aires CC, van Cruchten A, Ijlst L, de Almeida IT, Duran M, Wanders RJ, Silva MF. New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA. J Hepatol 2011; 55(2):426-34. DOI: 10.1016/j.jhep.2010.11.031

Paula Leandro

Group Leader


Phone: (+351) 217946400 (Ext. 14275)

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Faculdade de Farmácia da Universidade de Lisboa | Av. Professor Gama Pinto
1649-003 Lisboa | Portugal

Phone | +351 217 946 400
Fax | +351 217 946 470
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