Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

por Di Meo, Ivano, Lamperti, Costanza, Tiranti, Valeria
Publicado 2015

The Roles of Coenzyme Q in Disease: Direct and Indirect Involvement in Cellular Functions

por Pallotti, Francesco, Bergamini, Christian, Lamperti, Costanza, Fato, Romana
Publicado 2021

Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies

por Bottani, Emanuela, Lamperti, Costanza, Prigione, Alessandro, Tiranti, Valeria, Persico, Nicola, Brunetti, Dario
Publicado 2020

Partial tandem duplication of mtDNA–tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy

por Arzuffi, Paola, Lamperti, Costanza, Fernandez-Vizarra, Erika, Tonin, Paola, Morandi, Lucia, Zeviani, Massimo
Publicado 2012

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

por Di Meo, Ivano, Auricchio, Alberto, Lamperti, Costanza, Burlina, Alberto, Viscomi, Carlo, Zeviani, Massimo
Publicado 2012

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

por Frascarelli, Chiara, Zanetti, Nadia, Nasca, Alessia, Izzo, Rossella, Lamperti, Costanza, Lamantea, Eleonora, Legati, Andrea, Ghezzi, Daniele
Publicado 2023

Mitochondrial m.3243A > G mutation and carotid artery dissection

por Mancuso, Michelangelo, Montano, Vincenzo, Orsucci, Daniele, Peverelli, Lorenzo, Caputi, Luigi, Gambaro, Paola, Siciliano, Gabriele, Lamperti, Costanza
Publicado 2016

A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

por Invernizzi, Federica, Tigano, Marco, Dallabona, Cristina, Donnini, Claudia, Ferrero, Ileana, Cremonte, Maurizio, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo
Publicado 2013

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

por Viscomi, Carlo, Bottani, Emanuela, Civiletto, Gabriele, Cerutti, Raffaele, Moggio, Maurizio, Fagiolari, Gigliola, Schon, Eric A., Lamperti, Costanza, Zeviani, Massimo
Publicado 2011

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

por Civiletto, Gabriele, Dogan, Sukru Anil, Cerutti, Raffaele, Fagiolari, Gigliola, Moggio, Maurizio, Lamperti, Costanza, Benincá, Cristiane, Viscomi, Carlo, Zeviani, Massimo
Publicado 2018

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

por Baglivo, Mirko, Nasca, Alessia, Lamantea, Eleonora, Vinci, Stefano, Spagnolo, Manuela, Marchet, Silvia, Prokisch, Holger, Catania, Alessia, Lamperti, Costanza, Ghezzi, Daniele
Publicado 2023

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

por Civiletto, Gabriele, Varanita, Tatiana, Cerutti, Raffaele, Gorletta, Tatiana, Barbaro, Serena, Marchet, Silvia, Lamperti, Costanza, Viscomi, Carlo, Scorrano, Luca, Zeviani, Massimo
Publicado 2015

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

por Bee, Leonardo, Nasca, Alessia, Zanolini, Alice, Cendron, Filippo, d'Adamo, Pio, Costa, Rodolfo, Lamperti, Costanza, Celotti, Lucia, Ghezzi, Daniele, Zeviani, Massimo
Publicado 2015

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

por Lamperti, Costanza, Fang, Mingyan, Invernizzi, Federica, Liu, Xuanzhu, Wang, Hairong, Zhang, Qing, Carrara, Franco, Moroni, Isabella, Zeviani, Massimo, Zhang, Jianguo, Ghezzi, Daniele
Publicado 2012

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

por Invernizzi, Federica, Legati, Andrea, Nasca, Alessia, Lamantea, Eleonora, Garavaglia, Barbara, Gusic, Mirjana, Kopajtich, Robert, Prokisch, Holger, Zeviani, Massimo, Lamperti, Costanza, Ghezzi, Daniele
Publicado 2021

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

por Zanolini, Alice, Potic, Ana, Carrara, Franco, Lamantea, Eleonora, Diodato, Daria, Blasevich, Flavia, Marchet, Silvia, Mora, Marina, Pallotti, Francesco, Morandi, Lucia, Zeviani, Massimo, Lamperti, Costanza
Publicado 2016

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

por Brunetti, Dario, Dusi, Sabrina, Giordano, Carla, Lamperti, Costanza, Morbin, Michela, Fugnanesi, Valeria, Marchet, Silvia, Fagiolari, Gigliola, Sibon, Ody, Moggio, Maurizio, d’Amati, Giulia, Tiranti, Valeria
Publicado 2014

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

por Fonderico, Mattia, Laudisi, Michele, Andreasi, Nico Golfrè, Bigoni, Stefania, Lamperti, Costanza, Panteghini, Celeste, Garavaglia, Barbara, Carecchio, Miryam, Emanuele, Elia Antonio, Forni, Gian L., Granieri, Enrico
Publicado 2017

Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice

por Brunetti, Dario, Bottani, Emanuela, Segala, Agnese, Marchet, Silvia, Rossi, Fabio, Orlando, Fiorenza, Malavolta, Marco, Carruba, Michele O., Lamperti, Costanza, Provinciali, Mauro, Nisoli, Enzo, Valerio, Alessandra
Publicado 2020

NAD(+)-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

por Cerutti, Raffaele, Pirinen, Eija, Lamperti, Costanza, Marchet, Silvia, Sauve, Anthony A., Li, Wei, Leoni, Valerio, Schon, Eric A., Dantzer, Françoise, Auwerx, Johan, Viscomi, Carlo, Zeviani, Massimo
Publicado 2014