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de la Luna Gargantilla, Susana
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ICREA Research Professor at CRG (Centre de Regulació Genòmica). Life & Medical Sciences
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She obtained the BS in Biology in 1985 at University Autónoma de Madrid. For her PhD studies, she joined Juan Ortín's lab at the CBMSO with a FPI fellowship and worked on the biology of influenza virus, characterizing molecularly and functionally the viral polymerase. After getting the PhD in 1989 at UAM, she stayed in Ortin’s lab at CNB until 1994 when she moved to London to the lab of Nick La Thangue at the National Institute for Medical Research. There, she worked on the G1/S transition in the mammalian cell cycle focusing in the transcription factor E2F, with fellowships from the HFSO (at NIMR) and EU-Marie Curie (at Glasgow University) Programmes. In 1998, she returned to Spain with a reintegration contract to join the HSA21/Down syndrome Research group leaded by Xavier Estivill (IRO, Barcelona). In 2002, she joined ICREA and established her own line of research in the functional characterization of genes involved in the development of Down syndrome traits at the CRG in Barcelona.
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Research Interests
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Research in the past years has revealed that a number of human chromosome 21 (HSA21) genes are overexpressed in Down syndrome (DS) by at least 50% due to gene dosage. The overexpression leads to perturbations in a great variety of biological pathways, which underlie the complexity of the DS phenotype. Furthermore, it is predictable that many HSA21 proteins interact functionally within particular signalling pathways. Understanding the functional roles of the overexpressed genes will not only help to delineate the specific biochemical/biological processes affected but also to identify pathways that are particularly sensitive to dosage variations in their components. The group studies the roles of HSA21 proteins such as the calcineurin inhibitor RCAN1 and the kinase DYRK1A, both impacting on the phosphorylated status of their targets. Each protein belongs to highly conserved families -RCANs and DYRKs-, and we also pursue the identification of functional differences among their members.
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KeyWords
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cell signaling, protein kinases, DYRK1A, calcineurin, RCAN, Down syndrome
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