Exogenous peptides are able to penetrate human cell and mitochondrial membranes, stabilize mitochondrial tRNA structures, and rescue severe mitochondrial defects
Perli, Elena, Pisano, Annalinda, Pignataro, Maria Gemma, Campese, Antonio Francesco, Pelullo, Maria, Genovese, Ilaria, de Turris, Valeria, Ghelli, Anna Maria, Cerbelli, Bruna, Giordano, Carla, Colotti, Gianni, Morea, Veronica, d'Amati, Giulia
Published in The FASEB journal (01.06.2020)
Published in The FASEB journal (01.06.2020)
Get more information
Journal Article
Nonischemic Left Ventricular Scar and Cardiac Sudden Death in the Young
di Gioia, Cira R.T., MD, PhD, Giordano, Carla, MD, PhD, Cerbelli, Bruna, MD, Pisano, Annalinda, PhD, Perli, Elena, PhD, De Dominicis, Enrico, MD, Poscolieri, Barbara, MD, Palmieri, Vincenzo, MD, Ciallella, Costantino, MD, Zeppilli, Paolo, MD, d'Amati, Giulia, MD, PhD
Published in Human pathology (01.12.2016)
Published in Human pathology (01.12.2016)
Get full text
Journal Article
Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure
Pisano, Annalinda, Cerbelli, Bruna, Perli, Elena, Pelullo, Maria, Bargelli, Valentina, Preziuso, Carmela, Mancini, Massimiliano, He, Langping, Bates, Matthew GD, Lucena, Joaquin R, Della Monica, Paola Lilla, Familiari, Giuseppe, Petrozza, Vincenzo, Nediani, Chiara, Taylor, Robert W, d’Amati, Giulia, Giordano, Carla
Published in Cardiovascular pathology (01.03.2016)
Published in Cardiovascular pathology (01.03.2016)
Get full text
Journal Article
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement
Perli, Elena, Pisano, Annalinda, Glasgow, Ruth I C, Carbo, Miriam, Hardy, Steven A, Falkous, Gavin, He, Langping, Cerbelli, Bruna, Pignataro, Maria Gemma, Zacara, Elisabetta, Re, Federica, Della Monica, Paola Lilla, Morea, Veronica, Bonnen, Penelope E, Taylor, Robert W, d'Amati, Giulia, Giordano, Carla
Published in Scientific reports (25.03.2019)
Published in Scientific reports (25.03.2019)
Get full text
Journal Article
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations
Perli, Elena, Fiorillo, Annarita, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Grazioli, Paola, Campese, Antonio F, Di Micco, Patrizio, Tuppen, Helen A, Genovese, Ilaria, Poser, Elena, Preziuso, Carmela, Taylor, Robert W, Morea, Veronica, Colotti, Gianni, d'Amati, Giulia
Published in Human molecular genetics (01.03.2016)
Published in Human molecular genetics (01.03.2016)
Get full text
Journal Article
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy
GIORDANO, Carla, MONTOPOLI, Monica, SADUN, Alfredo A, D'AMATI, Giulia, CARELLI, Valerio, PERLI, Elena, ORLANDI, Maurizia, FANTIN, Marianna, ROSS-CISNEROS, Fred N, CAPARROTTA, Laura, MARTINUZZI, Andrea, RAGAZZI, Eugenio, GHELLI, Anna
Published in Brain (London, England : 1878) (01.01.2011)
Published in Brain (London, England : 1878) (01.01.2011)
Get full text
Journal Article
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number
Marucci, Gianluca, MD, PhD, Maresca, Alessandra, PhD, Caporali, Leonardo, BSc, Farnedi, Anna, BSc, PhD, Betts, Christine Margaret, BSc, MD, Morandi, Luca, BSc, PhD, de Biase, Dario, BSc, PhD, Cerasoli, Serenella, MD, Foschini, Maria Pia, MD, Bonora, Elena, BSc, PhD, Vidone, Michele, PhD, Romeo, Giovanni, MD, Perli, Elena, PhD, Giordano, Carla, MD, PhD, d'Amati, Giulia, MD, PhD, Gasparre, Giuseppe, PhD, Baruzzi, Agostino, MD, Carelli, Valerio, MD, PhD, Eusebi, Vincenzo, MD, FRCPath
Published in Human pathology (01.09.2013)
Published in Human pathology (01.09.2013)
Get full text
Journal Article
The isolated carboxy‐terminal domain of human mitochondrial leucyl‐tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells
Perli, Elena, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Campese, Antonio F, Reyes, Aurelio, Ghezzi, Daniele, Nasca, Alessia, Tuppen, Helen A, Orlandi, Maurizia, Di Micco, Patrizio, Poser, Elena, Taylor, Robert W, Colotti, Gianni, Francisci, Silvia, Morea, Veronica, Frontali, Laura, Zeviani, Massimo, d'Amati, Giulia
Published in EMBO molecular medicine (01.02.2014)
Published in EMBO molecular medicine (01.02.2014)
Get full text
Journal Article
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features
Giordano, Carla, MD, PhD, Perli, Elena, PhD, Orlandi, Maurizia, BSc, Pisano, Annalinda, BSc, Tuppen, Helen A., PhD, He, Langping, PhD, Ierinò, Rocco, BSc, Petruzziello, Luciano, BSc, Terzi, Amedeo, MD, Autore, Camillo, MD, Petrozza, Vincenzo, MD, Gallo, Pietro, MD, Taylor, Robert W., PhD, d'Amati, Giulia, MD, PhD
Published in Human pathology (01.07.2013)
Published in Human pathology (01.07.2013)
Get full text
Journal Article
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy
Giordano, Carla, Montopoli, Monica, Perli, Elena, Orlandi, Maurizia, Fantin, Marianna, Ross-Cisneros, Fred N, Caparrotta, Laura, Martinuzzi, Andrea, Ragazzi, Eugenio, Ghelli, Anna, Sadun, Alfredo A, d'Amati, Giulia, Carelli, Valerio
Published in Brain (London, England : 1878) (01.01.2011)
Published in Brain (London, England : 1878) (01.01.2011)
Get full text
Journal Article
Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy
Pisano, Annalinda, Preziuso, Carmela, Iommarini, Luisa, Perli, Elena, Grazioli, Paola, Campese, Antonio F, Maresca, Alessandra, Montopoli, Monica, Masuelli, Laura, Sadun, Alfredo A, d'Amati, Giulia, Carelli, Valerio, Ghelli, Anna, Giordano, Carla
Published in Human molecular genetics (15.12.2015)
Published in Human molecular genetics (15.12.2015)
Get full text
Journal Article
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy
Perli, Elena, Giordano, Carla, Tuppen, Helen A L, Montopoli, Monica, Montanari, Arianna, Orlandi, Maurizia, Pisano, Annalinda, Catanzaro, Daniela, Caparrotta, Laura, Musumeci, Beatrice, Autore, Camillo, Morea, Veronica, Di Micco, Patrizio, Campese, Antonio F, Leopizzi, Martina, Gallo, Pietro, Francisci, Silvia, Frontali, Laura, Taylor, Robert W, d'Amati, Giulia
Published in Human molecular genetics (01.01.2012)
Published in Human molecular genetics (01.01.2012)
Get full text
Journal Article
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy
Perli, Elena, Giordano, Carla, Tuppen, Helen A.L., Montopoli, Monica, Montanari, Arianna, Orlandi, Maurizia, Pisano, Annalinda, Catanzaro, Daniela, Caparrotta, Laura, Musumeci, Beatrice, Autore, Camillo, Morea, Veronica, Di Micco, Patrizio, Campese, Antonio F., Leopizzi, Martina, Gallo, Pietro, Francisci, Silvia, Frontali, Laura, Taylor, Robert W., d'Amati, Giulia
Published in Human molecular genetics (01.01.2012)
Published in Human molecular genetics (01.01.2012)
Get full text
Journal Article
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIIe mutation causing hypertrophic cardiomyopathy
PERLI, Elena, GIORDANO, Carla, AUTORE, Camillo, MOREA, Veronica, DI MICCO, Patrizio, CAMPESE, Antonio F, LEOPIZZI, Martina, GALLO, Pietro, FRANCISCI, Silvia, FRONTALI, Laura, TAYLOR, Robert W, D'AMATI, Giulia, TUPPEN, Helen A. L, MONTOPOLI, Monica, MONTANARI, Arianna, ORLANDI, Maurizia, PISANO, Annalinda, CATANZARO, Daniela, CAPARROTTA, Laura, MUSUMECI, Beatrice
Published in Human molecular genetics (2012)
Get full text
Published in Human molecular genetics (2012)
Journal Article
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA super(Ile) mutation causing hypertrophic cardiomyopathy
Perli, Elena, Giordano, Carla, Tuppen, Helen AL, Montopoli, Monica, Montanari, Arianna, Orlandi, Maurizia, Pisano, Annalinda, Catanzaro, Daniela, Caparrotta, Laura, Musumeci, Beatrice, Autore, Camillo, Morea, Veronica, Di Micco, Patrizio, Campese, Antonio F, Leopizzi, Martina, Gallo, Pietro, Francisci, Silvia, Frontali, Laura, Taylor, Robert W, d'Amati, Giulia
Published in Human molecular genetics (01.01.2012)
Published in Human molecular genetics (01.01.2012)
Get full text
Journal Article
THERAPEUTICAL PEPTIDOMIMETIC
MOREA, Veronica, D'AMATI, Giulia, PISANO, Annalinda, PERLI, Elena, PIGNATARO, Maria Gemma
Year of Publication 06.07.2023
Get full text
Year of Publication 06.07.2023
Patent
THERAPEUTICAL PEPTIDOMIMETIC
MOREA, VERONICA, PISANO, ANNALINDA, D'AMATI, GIULIA, PIGNATARO, MARIA GEMMA, PERLI, ELENA
Year of Publication 06.07.2023
Get full text
Year of Publication 06.07.2023
Patent
PEPTIDOMIMETICO TERAPEUTICO - THERAPEUTICAL PEPTIDOMIMETIC
MOREA, Veronica, D'AMATI, Giulia, PISANO, Annalinda, PERLI, Elena, PIGNATARO, Maria Gemma
Year of Publication 29.06.2023
Get full text
Year of Publication 29.06.2023
Patent
Isolated Distal Myopathy of the Upper Limbs Associated With Mitochondrial DNA Depletion and Polymerase [gamma] Mutations
Giordano, Carla, Pichiorri, Floriana, Blakely, Emma L, Perli, Elena, Orlandi, Maurizia, Gallo, Pietro, Taylor, Robert W, Inghilleri, Maurizio, d'Amati, Giulia
Published in Archives of neurology (Chicago) (01.09.2010)
Get full text
Published in Archives of neurology (Chicago) (01.09.2010)
Journal Article