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Projects. Life and Earth Sciences

Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase

Lead Researcher:
Óscar Millet Aguilar-Galindo 

Research Centre: 
Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya.

Synopsis:
Óscar MilletPorphyrias are a family of autosomal diseases caused by mutations in the different enzymes responsible for biosynthesis of haem. In particular, the loss of catalytic activity in uroporphyrinogen III synthase is ultimately responsible for congenital erythropoietic porphyria (CEP). Although it is very rare (there are less than a hundred cases described on the Iberian Peninsula), the symptoms experienced by patients are very pronounced. This research project aims to study, in vivo, the changes in stability of the enzyme in the wild and for the most common pathogenic mutants. In order to establish the basis for potential therapeutic treatments the effect of different organic molecules on the in vivo stability of mutant proteins will be studied. 

SCIENTIFIC PRODUCTION


4 articles published in Journals
4 papers at national conferences
1 paper at international conferences  
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Óscar Millet Aguilar-Galindo  
After completing a doctoral thesis in 2000 at the Department of Chemistry, University of Barcelona, I spent a post-doctoral sojourn in the laboratory of Prof. Lewis Kay (University of Toronto). In Canada, I perfected my knowledge of nuclear magnetic resonance (NMR) and applied it in-depth to the study of proteins, in particular on aspects of their conformational dynamics. In 2004 I joined the Barcelona Science Park (PCB) with a Ramón y Cajal contract from the Ministry of Science and Innovation. In 2007 I moved to Bilbao to lead a research group at the Structural Biology Unit of the CICbioGUNE. In our laboratory, NMR is combined with other biophysical characterisation techniques to delve into the determinants of protein stability and its relationship with different pathologies. Specifically, we study the human enzymes biosynthesising the haem group, whose deficiency due to mutation results in porphyria, as well as proteins belonging to organisms that survive in environments with high salinity. Among others, I have received a prize from the Spanish Royal Society of Chemistry in the young researcher category.

 
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