Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models
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
Published in Cell reports (Cambridge) (20.02.2018)
Published in Cell reports (Cambridge) (20.02.2018)
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Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
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
Published in Scientific reports (16.03.2020)
Published in Scientific reports (16.03.2020)
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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy
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
Published in PLoS genetics (14.02.2018)
Published in PLoS genetics (14.02.2018)
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TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
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
Published in Frontiers in genetics (05.08.2020)
Published in Frontiers in genetics (05.08.2020)
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Ankrd2/ARPP is a novel Akt2 specific substrate and regulates myogenic differentiation upon cellular exposure to H2O2
Cenni, Vittoria, Bavelloni, Alberto, Beretti, Francesca, Tagliavini, Francesca, Manzoli, Lucia, Lattanzi, Giovanna, Maraldi, Nadir M., Cocco, Lucio, Marmiroli, Sandra
Published in Molecular biology of the cell (15.08.2011)
Published in Molecular biology of the cell (15.08.2011)
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Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
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
Published in Scientific reports (23.06.2020)
Published in Scientific reports (23.06.2020)
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Novel mutations in DNA2 associated with myopathy and mtDNA instability
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
Published in Annals of clinical and translational neurology (01.09.2019)
Published in Annals of clinical and translational neurology (01.09.2019)
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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
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
Published in The Journal of clinical investigation (15.03.2021)
Published in The Journal of clinical investigation (15.03.2021)
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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
Del Dotto, Valentina, Ullah, Farid, Di Meo, Ivano, Magini, Pamela, Gusic, Mirjana, Maresca, Alessandra, Caporali, Leonardo, Palombo, Flavia, Tagliavini, Francesca, Baugh, Evan Harris, Macao, Bertil, Szilagyi, Zsolt, Peron, Camille, Gustafson, Margaret A, Khan, Kamal, La Morgia, Chiara, Barboni, Piero, Carbonelli, Michele, Valentino, Maria Lucia, Liguori, Rocco, Shashi, Vandana, Sullivan, Jennifer, Nagaraj, Shashi, El-Dairi, Mays, Iannaccone, Alessandro, Cutcutache, Ioana, Bertini, Enrico, Carrozzo, Rosalba, Emma, Francesco, Diomedi-Camassei, Francesca, Zanna, Claudia, Armstrong, Martin, Page, Matthew, Stong, Nicholas, Boesch, Sylvia, Kopajtich, Robert, Wortmann, Saskia, Sperl, Wolfgang, Davis, Erica E, Copeland, William C, Seri, Marco, Falkenberg, Maria, Prokisch, Holger, Katsanis, Nicholas, Tiranti, Valeria, Pippucci, Tommaso, Carelli, Valerio
Published in The Journal of clinical investigation (01.01.2020)
Published in The Journal of clinical investigation (01.01.2020)
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DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions
Caporali, Leonardo, Bello, Luca, Tagliavini, Francesca, La Morgia, Chiara, Maresca, Alessandra, Di Vito, Lidia, Liguori, Rocco, Valentino, Maria Lucia, Cecchin, Diego, Pegoraro, Elena, Carelli, Valerio
Published in Brain (London, England : 1878) (01.01.2018)
Published in Brain (London, England : 1878) (01.01.2018)
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DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism
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
Published in Human molecular genetics (21.07.2020)
Published in Human molecular genetics (21.07.2020)
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ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
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
Published in Annals of neurology (01.07.2020)
Published in Annals of neurology (01.07.2020)
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Collagen VI–NG2 axis in human tendon fibroblasts under conditions mimicking injury response
Sardone, Francesca, Santi, Spartaco, Tagliavini, Francesca, Traina, Francesco, Merlini, Luciano, Squarzoni, Stefano, Cescon, Matilde, Wagener, Raimund, Maraldi, Nadir Mario, Bonaldo, Paolo, Faldini, Cesare, Sabatelli, Patrizia
Published in Matrix biology (01.09.2016)
Published in Matrix biology (01.09.2016)
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NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models
Zulian, Alessandra, Rizzo, Erika, Schiavone, Marco, Palma, Elena, Tagliavini, Francesca, Blaauw, Bert, Merlini, Luciano, Maraldi, Nadir Mario, Sabatelli, Patrizia, Braghetta, Paola, Bonaldo, Paolo, Argenton, Francesco, Bernardi, Paolo
Published in Human molecular genetics (15.10.2014)
Published in Human molecular genetics (15.10.2014)
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PI-PLCβ1b affects Akt activation, cyclin E expression, and caspase cleavage, promoting cell survival in pro-B-lymphoblastic cells exposed to oxidative stress
Piazzi, Manuela, Blalock, William L, Bavelloni, Alberto, Faenza, Irene, Raffini, Mirco, Tagliavini, Francesca, Manzoli, Lucia, Cocco, Lucio
Published in The FASEB journal (01.04.2015)
Published in The FASEB journal (01.04.2015)
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First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
La Morgia, Chiara, Caporali, Leonardo, Tagliavini, Francesca, Palombo, Flavia, Carbonelli, Michele, Liguori, Rocco, Barboni, Piero, Carelli, Valerio
Published in Neurology. Genetics (01.06.2019)
Published in Neurology. Genetics (01.06.2019)
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Effect of Mechanical Strain on the Collagen VI Pericellular Matrix in Anterior Cruciate Ligament Fibroblasts
Sardone, Francesca, Traina, Francesco, Tagliavini, Francesca, Pellegrini, Camilla, Merlini, Luciano, Squarzoni, Stefano, Santi, Spartaco, Neri, Simona, Faldini, Cesare, Maraldi, Nadir, Sabatelli, Patrizia
Published in Journal of cellular physiology (01.07.2014)
Published in Journal of cellular physiology (01.07.2014)
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Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
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
Published in Neurology. Genetics (01.06.2020)
Published in Neurology. Genetics (01.06.2020)
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