Bárbara J. Henriques is Assistant Researcher at Biosystems & Integrative Sciences Institute, Faculty of Sciences University of Lisboa (BioISI-FCUL). Graduated in Chemistry at University of Coimbra (2002), obtained a Ph.D. in Biochemistry/Structural Biochemistry, at New University of Lisboa (2010). Bárbara's research interests are focused on establishing molecular mechanisms underlying protein misfolding and functional deficiency in the context of rare metabolic disorders, resorting to patient profiling and biochemical and cellular models. This follows international experience obtained during training periods at Aarhus University Hospital (Denmark) and Université Paris Descartes (France), and +15y research experience in rare metabolic diseases. Main scientific contributions translate to establishing the molecular and biochemical basis of therapeutic potential of dietary vitamins, definition of genotype-phenotype relationships, and profiling protein dysfunction in mitochondrial disease. Current research focus is on fatty acid beta oxidation disorders caused by defects on ETF and ETF:QO, and also on leukodystrophies, neurometabolic rare diseases caused by defects in mitochondrial aminoacyl-tRNA synthetases, involving active research collaborations with national (INSA, PT) and international (Department Clinical Neurosciences-University of Cambridge, UK) and (Aarhus University Hospital, DK) reference laboratories. Has regular activity as ad-hoc peer reviewer for scientific journals (+6). Has raised +420 k€ (2016-22) in national competitive calls. Has published +18 articles in peer-review journals, 9 in conference proceedings, and 4 book chapters, with an h-index of 11 and +490 citations (Scopus). Was guest co-editor of a special issue on protein folding diseases at the International Journal of Molecular Sciences (Q1 in Medicine). Has presented research work in +50 international meetings, including 13 oral communications and +40 posters. Has supervised +16 young researchers. Lectures regularly Experimental Biochemistry II course (2y Biochemistry BSc). Member of the clinical workgroup on Beta Oxidation Disorders at SPDM.

The main topic of my research is the study of human proteins involved in metabolic conformational diseases, which become misfolded and/or inactive due to mutations or adverse cellular conditions. In particular, my current interests are related to understanding mitochondria regulation by non-enzymatic Post-Translational Modifications (PTMs) and their impact in metabolic disorders, and also to understand molecular mechanism of neurological disorders associated to defects on aaRS enzymes. To undertake our goals, we use a complementary set of tools, ranging from biochemical and molecular biology to biophysical, spectroscopic and proteomics techniques.