Works matching AU Tiranti, Valeria

Results: 66
    1

    Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

    Published in:
    Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0316-5
    By:
    • Onesto, Elisa;
    • Colombrita, Claudia;
    • Gumina, Valentina;
    • Borghi, Maria Orietta;
    • Dusi, Sabrina;
    • Doretti, Alberto;
    • Fagiolari, Gigliola;
    • Invernizzi, Federica;
    • Moggio, Maurizio;
    • Tiranti, Valeria;
    • Silani, Vincenzo;
    • Ratti, Antonia
    Publication type:
    Article
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    Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

    Published in:
    EMBO Molecular Medicine, 2017, v. 9, n. 1, p. 96, doi. 10.15252/emmm.201606356
    By:
    • Ziosi, Marcello;
    • Di Meo, Ivano;
    • Kleiner, Giulio;
    • Gao, Xing‐Huang;
    • Barca, Emanuele;
    • Sanchez‐Quintero, Maria J;
    • Tadesse, Saba;
    • Jiang, Hongfeng;
    • Qiao, Changhong;
    • Rodenburg, Richard J;
    • Scalais, Emmanuel;
    • Schuelke, Markus;
    • Willard, Belinda;
    • Hatzoglou, Maria;
    • Tiranti, Valeria;
    • Quinzii, Catarina M
    Publication type:
    Article
    9

    Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.

    Published in:
    EMBO Molecular Medicine, 2016, v. 8, n. 10, p. 1197, doi. 10.15252/emmm.201606391
    By:
    • Orellana, Daniel I;
    • Santambrogio, Paolo;
    • Rubio, Alicia;
    • Yekhlef, Latefa;
    • Cancellieri, Cinzia;
    • Dusi, Sabrina;
    • Giannelli, Serena G;
    • Venco, Paola;
    • Mazzara, Pietro G;
    • Cozzi, Anna;
    • Ferrari, Maurizio;
    • Garavaglia, Barbara;
    • Taverna, Stefano;
    • Tiranti, Valeria;
    • Broccoli, Vania;
    • Levi, Sonia
    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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    MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

    Published in:
    Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
    By:
    • Spinazzola, Antonella;
    • Viscomi, Carlo;
    • Fernandez-Vizarra, Erika;
    • Carrara, Franco;
    • D'Adamo, Pio;
    • Calvo, Sarah;
    • Marsano, René Massimiliano;
    • Donnini, Claudia;
    • Weiher, Hans;
    • Strisciuglio, Pietro;
    • Parini, Rossella;
    • Sarzi, Emmanuelle;
    • Chan, Alicia;
    • DiMauro, Salvatore;
    • Rötig, Agnes;
    • Gasparini, Paolo;
    • Ferrero, Iliana;
    • Mootha, Vamsi K.;
    • Tiranti, Valeria;
    • Zeviani, Massimo
    Publication type:
    Article
    21

    Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

    Published in:
    Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058
    By:
    • Spelbrink, Johannes N.;
    • Li, Fang-Yuan;
    • Tiranti, Valeria;
    • Nikali, Kaisu;
    • Yuan, Qiu-Ping;
    • Tariq, Muhammed;
    • Wanrooij, Sjoerd;
    • Garrido, Nuria;
    • Comi, Giacomo;
    • Morandi, Lucia;
    • Santoro, Lucio;
    • Toscano, Antonio;
    • Fabrizi, Gian-Maria;
    • Somer, Hannu;
    • Croxen, Rebecca;
    • Beeson, David;
    • Poulton, Joanna;
    • Suomalainen, Anu;
    • Jacobs, Howard T
    Publication type:
    Article
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    Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1615, doi. 10.1002/acn3.52079
    By:
    • Cavestro, Chiara;
    • Morra, Francesca;
    • Legati, Andrea;
    • D'Amato, Marco;
    • Nasca, Alessia;
    • Iuso, Arcangela;
    • Lubarr, Naomi;
    • Morrison, Jennifer L.;
    • Wheeler, Patricia G.;
    • Serra‐Juhé, Clara;
    • Rodríguez‐Santiago, Benjamín;
    • Turón‐Viñas, Eulalia;
    • Prouteau, Clement;
    • Barth, Magalie;
    • Hayflick, Susan J.;
    • Ghezzi, Daniele;
    • Tiranti, Valeria;
    • Di Meo, Ivano
    Publication type:
    Article
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    Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3664, doi. 10.3390/ijms21103664
    By:
    • Santambrogio, Paolo;
    • Ripamonti, Maddalena;
    • Paolizzi, Chiara;
    • Panteghini, Celeste;
    • Carecchio, Miryam;
    • Chiapparini, Luisa;
    • Raimondi, Marzia;
    • Rubio, Alicia;
    • Di Meo, Ivano;
    • Cozzi, Anna;
    • Taverna, Stefano;
    • De Palma, Giuseppe;
    • Tiranti, Valeria;
    • Levi, Sonia
    Publication type:
    Article
    36

    Genetic diagnosis of Mendelian disorders via RNA sequencing.

    Published in:
    Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15824
    By:
    • Kremer, Laura S.;
    • Bader, Daniel M.;
    • Mertes, Christian;
    • Kopajtich, Robert;
    • Pichler, Garwin;
    • Iuso, Arcangela;
    • Haack, Tobias B.;
    • Graf, Elisabeth;
    • Schwarzmayr, Thomas;
    • Terrile, Caterina;
    • Koňaříková, Eliška;
    • Repp, Birgit;
    • Kastenmüller, Gabi;
    • Adamski, Jerzy;
    • Lichtner, Peter;
    • Leonhardt, Christoph;
    • Funalot, Benoit;
    • Donati, Alice;
    • Tiranti, Valeria;
    • Lombes, Anne
    Publication type:
    Article
    37

    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

    Published in:
    Nature Communications, 2016, v. 7, n. 5, p. 11601, doi. 10.1038/ncomms11601
    By:
    • Tuschl, Karin;
    • Meyer, Esther;
    • Valdivia, Leonardo E.;
    • Zhao, Ningning;
    • Dadswell, Chris;
    • Abdul-Sada, Alaa;
    • Hung, Christina Y.;
    • Simpson, Michael A.;
    • Chong, W. K.;
    • Jacques, Thomas S.;
    • Woltjer, Randy L.;
    • Eaton, Simon;
    • Gregory, Allison;
    • Sanford, Lynn;
    • Kara, Eleanna;
    • Houlden, Henry;
    • Cuno, Stephan M.;
    • Prokisch, Holger;
    • Valletta, Lorella;
    • Tiranti, Valeria
    Publication type:
    Article
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    Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 15, p. 2961, doi. 10.1093/hmg/ddx186
    By:
    • Girolimetti, Giulia;
    • Guerra, Flora;
    • Iommarini, Luisa;
    • Kurelac, Ivana;
    • Vergara, Daniele;
    • Maffia, Michele;
    • Vidone, Michele;
    • Amato, Laura Benedetta;
    • Leone, Giulia;
    • Dusi, Sabrina;
    • Tiranti, Valeria;
    • Myriam Perrone, Anna;
    • Bucci, Cecilia;
    • Porcelli, Anna Maria;
    • Gasparre, Giuseppe
    Publication type:
    Article
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