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Pasquale Scarcia

Senior researcher BIO/12 Clinical biochemistry and clinical molecular biology

Pasquale Scarcia

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Scarcia’s scientific research concerned with the identification of genes encoding mitochondrial carriers and their involvement in cell metabolism and human diseases. By developing recombinant technologies for the expression and functional reconstitution of carriers, Scarcia contributed over the last 12 years to the identification of yeast genes and human genes encoding new mitochondrial carriers. The employed experimental platform consists of gene over-expression in E. coli or S. cerevisiae, purification of proteins and their functional reconstitution in liposomes reproducing biological membranes. Scarcia during his scientific career also matured experiences in techniques aimed at the characterization of the physiological roles of mitochondrial carriers in yeast as well as in mammalian living cells. Scarcia also contributed to the identification and elucidation of the pathogenesis of metabolic diseases recently associated to mitochondrial carriers, the autosomal dominant and recessive Peripherical External Ophtalmoplegia (adPEO and arPEO) caused by mutation on ADP/ATP carrier isoform 1 (SLC25A4, AAC1), and Autism syndrome in which is involved Aspartate/gluatamate carrier isoform 1 (SLC25A12, AGC1).


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Pubblicato il: 04/04/2013  Ultima modifica: 01/06/2019