Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Autor: Casarin Alberto, Giorgi Gianpietro, Pertegato Vanessa, Siviero Roberta, Cerqua Cristina, Doimo Mara, Basso Giuseppe, Sacconi Sabrina, Cassina Matteo, Rizzuto Rosario, Brosel Sonja, M Davidson Mercy, DiMauro Salvatore, Schon Eric A, Clementi Maurizio, Trevisson Eva, Salviati Leonardo

Publikováno v: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 21 (2012)

Abstract Background Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the defect in patient

Externí odkaz: https://doaj.org/article/ac915d6223bd4d07b6a01ec8d34fd9d8

Complexity of the 5′UTR region of the CLCN5 gene: eleven 5′UTR ends are differentially expressed in the human kidney.

Autor: Tosetto, Enrica¹ (AUTHOR) enrica.tosetto@unipd.it, Casarin, Alberto² (AUTHOR), Salviati, Leonardo² (AUTHOR), Familiari, Alessandra¹ (AUTHOR), Lieske, John C.³ (AUTHOR), Anglani, Franca¹ (AUTHOR)

Publikováno v: BMC Medical Genomics. 2014, Vol. 7 Issue 1, p41-51. 11p. 4 Diagrams, 1 Chart, 1 Graph.

Computational Modeling of X-Ray CT Cross-Sections of Thighs of Elderly Patients

Autor: Salmons, Stanley, Gargiulo, Paolo, Edmunds, Kyle, Sigurdsson, Sigurdur, Carraro, Ugo, Gudnason, Vilmundur, Franchi, Martino V, Reeves, Neil D, Maganaris, Costantinos, Smith, Ken, Atherton, Philip J, Narici, Marco V, Stephenson, Robert S, Jarvis, Jonathan C, Ortolan, Paolo, Zanato, Riccardo, Coran, Alessandro, Beltrame, Valeria, Stramare, Roberto, Murgia, Marta, Nagaraj, Nagarjuna, Deshmukh, Atul, Zeiler, Marlis, Cancellara, Pasqua, Reggiani, Carlo, Schiaffino, Stefano, Mann, Matthias, Schils, Sheila J., Ravara, Barbara, Gobbo, Valerio, Gelbmann, Lin, Pribyl, Jamie, Schils, Sheila, Mayr, Winfried, Krenn, Matthias, Zidar, Janez, Mosole, Simone, Zampieri, Sandra, Germinario, Elena, Danieli-Betto, Daniela, Piccoli, Martina, Franzin, Chiara, Bertin, Enrica, De Coppi, Paolo, Pozzobon, Michela, Boncompagni, Simona, Marcante, Andrea, Piccione, Francesco, Masiero, Stefano, Vindigni, Vincenzo, Protasi, Feliciano, Pond, Amber, (, Helmut Kern, Quinlivan, Ros, Matthews, Emma, Bianchini, Elisa, Sacchetto, Roberta, Betto, Romeo, Sandonà, Dorianna, Zulian, Alessandra, Schiavone, Marco, Šileikytė, Justina, Rizzo, Erika, Palma, Elena, Tagliavini, Francesca, Blaauw, Bert, Roy, Sudeshna, Schoenen, Frank J., Forte, Mike, Merlini, Luciano, Maraldi, Nadir Mario, Sabatelli, Patrizia, Braghetta, Paola, Argenton, Francesco, Bonaldo, Paolo, Bernardi, Paolo, Martinuzzi, Andrea, De Conti, Carla, Vavla, Marinela, Trevisi, Enrico, Baba, Alfonc, Cudia, Paola, Merico, Antonio, Angelini, Corrado, Tramonti, Caterina, Dalise, Stefania, Bertolucci, Federica, Rossi, Bruno, Chisari, Carmelo, Bradley, Kevin, Pratt, Evan, Soderling, Ian, Wang, Wen-Horng, Hockerman, Gregory, Gava, Paolo, Kern, Helmut, Pelosi, Laura, Forcina, Laura, Vizzaccaro, Elisa, Musarò, Antonio, Löfler, Stefan, Fruhmann, Hannah, Burggraf, Samantha, Sandri, Marco, Cvečka, Ján, Hamar, Dušan, Sedliak, Milan, Tirptakova, Veronica, Šarabon, Nejc, Mammuccari, Cristina, Berardi, Emanuele, Annibali, Daniela, Perini, Ilaria, Cassano, Marco, Ortiz, Carolina, Ultimo, Simona, Costamagna, Domiziana, Costelli, Paola, Di Grazia, Antonio, Grosemans, Hanne, Sampaolesi, Maurilio, Conte, Maria, Vasuri, Francesco, Bertaggia, Enrico, Armani, Andrea, Degiovanni, Alessio, D’Errico-Grigioni, Antonia, Franceschi, Claudio, Salvioli, Stefano, Sarabon, Nejc, Perosa, Miha, Praznikar, Jure, Kovárová, Jana, Schickhofer, Peter, Tirpáková, Veronika, Böhmerová, Ľubica, Vajda, Matej, Tezze, Caterina, Romanello, Vanina, Varanita, Tatiana, Desbats, Mariam, Soriano, Maria Eugenia, Casarin, Alberto, Albiero, Mattia, Loefler, Stefan, Salviati, Leonardo, Scorrano, Luca, Leeuwenburgh, Christiaan, Mammucari, Cristina, Gugatschka, Markus, Bachna-Rotter, Sophie, Gerstenberger, Claus, Jarvis, Jonathan, Schlager, Hans-Jörg, Friedrich, Gerhard, Graupp, Matthias, Fröhlich-Sorger, Elke, Kiesler, Karl, Gugatschka, Marcus, Lindenthaler, Werner, Mueller, Andreas Harald, Hagen, Rudolf, Foerster, Gerhard, Harnisch, Wilma, Baumbusch, Katrin, Pototschnig, Claus, Cavallari, Paolo, Schmoll, Martin, Unger, Ewald, Bijak, Martin, Lanmueller, Herman, Jarvis, Jonathan C., Frigerio, Alice, Hadlock, Tessa, Knox, Chris, Hohman, Marc, Heaton, James, Lanmüller, Hermann, Bijak, Manfred, Haller, Michael, Lanmueller, Hermann, Willand, Michael P., Zhang, Jennifer J., Chiang, Cameron, Rosa, Elyse, Kemp, Stephen W.P., Fahnestock, Margaret, Borschel, Gregory, Gordon, Tessa, Rozman, Janez, Pečlin, Polona, Žužek, Monika C., Vrecl, Milka, Frangež, Robert, Paoli, Antonio, Vescovo, Giorgio, Castellani, Chiara, Tavano, Regina, Gorza, Luisa, Papini, Emanuele, Vettor, Roberto, Thiene, Gaetano, Angelini, Annalisa, Marzetti, Emanuele, Lezza, Angela Maria Serena, D’Onofrio, Laura, Di Fonso, Alessia, Petersen, Hannes, Rafolt, Dietmar, Sigurdardottir, Jona Sigrun, Halldorsdottir, Gudfinna, Sigurthorsson, Stefan Pall, Kristinsson, Kristleifur, Helgason, Thordur, Panjan, Andrej, Graupe, Daniel, Khobragade, Nivedita, Tuninetti, Daniel, Slavin, Konstantin V, Metman, Leonard Verhagen, Rabie, Ahmed, Pigna, Eva, Mancinelli, Rosa, Coletti, Dario, Adamo, Sergio, Moresi, Viviana, Paweł, Kiper, Simonetta, Rossi, Stefano, Masiero, Iodice, Pierpaolo, Hofer, Christian, Galli, Lucia, Di Muzio, Antonio, Sorrentino, Vincenzo, Patruno, Marco, Picca, Anna, Pesce, Vito, Fracasso, Flavio, Joseph, Anna-Maria, S, Löfler, W, Mayr, M, Moedlin, S, Burggraf, H, Kern, U, Carraro, P, Gargiulo, G, Örlygsson, C, Rizzi

Publikováno v: European Journal of Translational Myology

Injury to peripheral nerves is not uncommon, and spinal injury with fracture dislocation of the vertebrae can damage roots as well as the cord. Both types of trauma leave the corresponding muscles denervated, resulting in a flaccid paralysis and cata

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::993171d7cb2b397e36aaa58132da1083
http://europepmc.org/articles/PMC4748996

Gene symbol:ASL. Disease: Argininosuccinate deficiency

Autor: Trevisson, Eva, Salviati, Leonardo, Baldoin, Mc, Casarin, Alberto, Basso, Giuseppe, Burlina, A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::93c0449ca4fd706cfafa42c31b68d7a1
http://hdl.handle.net/11577/155487

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