Works by Scarcia, Pasquale


Results: 19
    1

    Harmaline to Human Mitochondrial Caseinolytic Serine Protease Activation for Pediatric Diffuse Intrinsic Pontine Glioma Treatment.

    Published in:
    Pharmaceuticals (14248247), 2024, v. 17, n. 1, p. 135, doi. 10.3390/ph17010135
    By:
    • Miciaccia, Morena;
    • Rizzo, Francesca;
    • Centonze, Antonella;
    • Cavallaro, Gianfranco;
    • Contino, Marialessandra;
    • Armenise, Domenico;
    • Baldelli, Olga Maria;
    • Solidoro, Roberta;
    • Ferorelli, Savina;
    • Scarcia, Pasquale;
    • Agrimi, Gennaro;
    • Zingales, Veronica;
    • Cimetta, Elisa;
    • Ronsisvalle, Simone;
    • Sipala, Federica Maria;
    • Polosa, Paola Loguercio;
    • Fortuna, Cosimo Gianluca;
    • Perrone, Maria Grazia;
    • Scilimati, Antonio
    Publication type:
    Article
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    An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 169, doi. 10.1007/s10545-017-0106-7
    By:
    • Pop, Ana;
    • Williams, Monique;
    • Struys, Eduard A.;
    • Monné, Magnus;
    • Jansen, Erwin E. W.;
    • De Grassi, Anna;
    • Kanhai, Warsha A.;
    • Scarcia, Pasquale;
    • Ojeda, Matilde R. Fernandez;
    • Porcelli, Vito;
    • Dooren, Silvy J. M.;
    • Lennertz, Pascal;
    • Nota, Benjamin;
    • Abdenur, Jose E.;
    • Coman, David;
    • Das, Anibh Martin;
    • El-Gharbawy, Areeg;
    • Nuoffer, Jean-Marc;
    • Polic, Branka;
    • Santer, René
    Publication type:
    Article
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    Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-19871-x
    By:
    • Girardi, Enrico;
    • Agrimi, Gennaro;
    • Goldmann, Ulrich;
    • Fiume, Giuseppe;
    • Lindinger, Sabrina;
    • Sedlyarov, Vitaly;
    • Srndic, Ismet;
    • Gürtl, Bettina;
    • Agerer, Benedikt;
    • Kartnig, Felix;
    • Scarcia, Pasquale;
    • Di Noia, Maria Antonietta;
    • Liñeiro, Eva;
    • Rebsamen, Manuele;
    • Wiedmer, Tabea;
    • Bergthaler, Andreas;
    • Palmieri, Luigi;
    • Superti-Furga, Giulio
    Publication type:
    Article
    15

    Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19871-x
    By:
    • Girardi, Enrico;
    • Agrimi, Gennaro;
    • Goldmann, Ulrich;
    • Fiume, Giuseppe;
    • Lindinger, Sabrina;
    • Sedlyarov, Vitaly;
    • Srndic, Ismet;
    • Gürtl, Bettina;
    • Agerer, Benedikt;
    • Kartnig, Felix;
    • Scarcia, Pasquale;
    • Noia, Maria Antonietta Di;
    • Liñeiro, Eva;
    • Rebsamen, Manuele;
    • Wiedmer, Tabea;
    • Bergthaler, Andreas;
    • Palmieri, Luigi;
    • Superti-Furga, Giulio
    Publication type:
    Article
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    SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 3, p. 499, doi. 10.1093/hmg/ddx419
    By:
    • Punzi, Giuseppe;
    • Porcelli, Vito;
    • Ruggiu, Matteo;
    • Hossain, Md F.;
    • Menga, Alessio;
    • Scarcia, Pasquale;
    • Castegna, Alessandra;
    • Gorgoglione, Ruggiero;
    • Pierri, Ciro L.;
    • Laera, Luna;
    • Lasorsa, Francesco M.;
    • Paradies, Eleonora;
    • Pisano, Isabella;
    • Marobbio, Carlo M. T.;
    • Lamantea, Eleonora;
    • Ghezzi, Daniele;
    • Tiranti, Valeria;
    • Giannattasio, Sergio;
    • Donati, Maria A.;
    • Guerrini, Renzo
    Publication type:
    Article
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