Metabolic pathways are intertwined systems that act on nearly every aspect of cellular behaviour. Our research builds upon the view that ‘everything depends on everything’ to understand the mechanisms of disease in inborn errors of metabolism (IEM), with emphasis on IEM that cause tumorigenic and neurological pathologies.
IEM present complex phenotypes that are poorly explained by linear genetic-metabolic models. Our group’s goal is to address how the pathological accumulation (or deficiency) of metabolites alter biochemical processes that also rely on these substrates, such as RNA-protein interactions and modifications, and how this ultimately contributes to cell dysfunction in IEM.
To this end, we take on a multidisciplinary framework, combining mass spectrometry, next-generation sequencing (NGS) and biochemical approaches, to assess the pleiotropic effects of otherwise dead-end metabolites (DEM) in IEM cell models, focused on inborn errors of the Krebs cycle and amino acid catabolism.
2022-2025 “Unraveling RNA networks in inborn errors of the Krebs cycle”, “la Caixa” Foundation (Catalonia, ES). Grant number: 1169252022-2028 “Metabolic regulation of RNA networks in immunity and inborn errors of metabolism”, Fundação para a Ciência e a Tecnologia (Lisboa, PT), Grant number: 2021.01737.CEECIND2016-2018 “Metabolic control of RNA-protein and RNA-RNA interactions in cellular transformation”, Marie Sklodowska-Curie Actions (Brussels, BE), Grant number: 701730
CAPÍTULOS DE LIVROS:
(2018) Metabolic Gene, Enzyme, and Flux Targets for Cancer Therapy (US Patent No. US10064885B2). Inventors: Stephanopoulos G, Metallo CM, Kelleher JK, Iliopoulos O, and Gameiro PA.
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