First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

por La Morgia, Chiara, Caporali, Leonardo, Tagliavini, Francesca, Palombo, Flavia, Carbonelli, Michele, Liguori, Rocco, Barboni, Piero, Carelli, Valerio
Publicado 2019

Ankrd2/ARPP is a novel Akt2 specific substrate and regulates myogenic differentiation upon cellular exposure to H(2)O(2)

por Cenni, Vittoria, Bavelloni, Alberto, Beretti, Francesca, Tagliavini, Francesca, Manzoli, Lucia, Lattanzi, Giovanna, Maraldi, Nadir M., Cocco, Lucio, Marmiroli, Sandra
Publicado 2011

Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

por Sabatelli, Patrizia, Castagnaro, Silvia, Tagliavini, Francesca, Chrisam, Martina, Sardone, Francesca, Demay, Laurence, Richard, Pascale, Santi, Spartaco, Maraldi, Nadir M., Merlini, Luciano, Sandri, Marco, Bonaldo, Paolo
Publicado 2014

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

por Zulian, Alessandra, Tagliavini, Francesca, Rizzo, Erika, Pellegrini, Camilla, Sardone, Francesca, Zini, Nicoletta, Maraldi, Nadir Mario, Santi, Spartaco, Faldini, Cesare, Merlini, Luciano, Petronilli, Valeria, Bernardi, Paolo, Sabatelli, Patrizia
Publicado 2014

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

por Ronchi, Dario, Caporali, Leonardo, Manenti, Giulia Francesca, Meneri, Megi, Mohamed, Susan, Bordoni, Andreina, Tagliavini, Francesca, Contin, Manuela, Piga, Daniela, Sciacco, Monica, Saetti, Cristina, Carelli, Valerio, Comi, Giacomo Pietro
Publicado 2020

Novel mutations in DNA2 associated with myopathy and mtDNA instability

por Ronchi, Dario, Liu, Changwei, Caporali, Leonardo, Piga, Daniela, Li, Hongzhi, Tagliavini, Francesca, Valentino, Maria Lucia, Ferrò, Maria Teresa, Bini, Paola, Zheng, Li, Carelli, Valerio, Shen, Binghui, Comi, Giacomo Pietro
Publicado 2019

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models

por Iannielli, Angelo, Bido, Simone, Folladori, Lucrezia, Segnali, Alice, Cancellieri, Cinzia, Maresca, Alessandra, Massimino, Luca, Rubio, Alicia, Morabito, Giuseppe, Caporali, Leonardo, Tagliavini, Francesca, Musumeci, Olimpia, Gregato, Giuliana, Bezard, Erwan, Carelli, Valerio, Tiranti, Valeria, Broccoli, Vania
Publicado 2018

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

por La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, Carelli, Valerio
Publicado 2020

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

por La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, Carelli, Valerio
Publicado 2020

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

por Caporali, Leonardo, Iommarini, Luisa, La Morgia, Chiara, Olivieri, Anna, Achilli, Alessandro, Maresca, Alessandra, Valentino, Maria Lucia, Capristo, Mariantonietta, Tagliavini, Francesca, Del Dotto, Valentina, Zanna, Claudia, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Cocetta, Veronica, Montopoli, Monica, Martinuzzi, Andrea, Cenacchi, Giovanna, De Michele, Giuseppe, Testa, Francesco, Nesti, Anna, Simonelli, Francesca, Porcelli, Anna Maria, Torroni, Antonio, Carelli, Valerio
Publicado 2018

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism

por Maresca, Alessandra, Del Dotto, Valentina, Capristo, Mariantonietta, Scimonelli, Emanuela, Tagliavini, Francesca, Morandi, Luca, Tropeano, Concetta Valentina, Caporali, Leonardo, Mohamed, Susan, Roberti, Marina, Scandiffio, Letizia, Zaffagnini, Mirko, Rossi, Jacopo, Cappelletti, Martina, Musiani, Francesco, Contin, Manuela, Riva, Roberto, Liguori, Rocco, Pizza, Fabio, La Morgia, Chiara, Antelmi, Elena, Loguercio Polosa, Paola, Mignot, Emmanuel, Zanna, Claudia, Plazzi, Giuseppe, Carelli, Valerio
Publicado 2020

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

por Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy
Publicado 2020

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

por Caporali, Leonardo, Magri, Stefania, Legati, Andrea, Del Dotto, Valentina, Tagliavini, Francesca, Balistreri, Francesca, Nasca, Alessia, La Morgia, Chiara, Carbonelli, Michele, Valentino, Maria L., Lamantea, Eleonora, Baratta, Silvia, Schöls, Ludger, Schüle, Rebecca, Barboni, Piero, Cascavilla, Maria L., Maresca, Alessandra, Capristo, Mariantonietta, Ardissone, Anna, Pareyson, Davide, Cammarata, Gabriella, Melzi, Lisa, Zeviani, Massimo, Peverelli, Lorenzo, Lamperti, Costanza, Marzoli, Stefania B., Fang, Mingyan, Synofzik, Matthis, Ghezzi, Daniele, Carelli, Valerio, Taroni, Franco
Publicado 2020

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

por Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy
Publicado 2021

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

por Stenton, Sarah L., Sheremet, Natalia L., Catarino, Claudia B., Andreeva, Natalia A., Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L., Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S., Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D., Kunz, Wolfram S., La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F., Maresca, Alessandra, Mayr, Johannes A., Meisterknecht, Jana, Nevinitsyna, Tatiana A., Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S., Strom, Tim M., Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T., Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y., Zhorzholadze, Nino V., Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G., Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger
Publicado 2021