Author: "Tiranti, Valeria" - OpacWWW

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Title:: Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
Authors:: Aleo, Serena Jasmine
Del Dotto, Valentina
Romagnoli, Martina
Fiorini, Claudio
Capirossi, Giada
Peron, Camille
Maresca, Alessandra
Caporali, Leonardo
Capristo, Mariantonietta
Tropeano, Concetta Valentina
Zanna, Claudia
Ross-Cisneros, Fred N.
Sadun, Alfredo A.
Pignataro, Maria Gemma
Giordano, Carla
Fasano, Chiara
Cavaliere, Andrea
Porcelli, Anna Maria
Tioli, Gaia
Musiani, Francesco
Catania, Alessia
Lamperti, Costanza
Marzoli, Stefania Bianchi
De Negri, Annamaria
Cascavilla, Maria Lucia
Battista, Marco
Barboni, Piero
Carbonelli, Michele
Amore, Giulia
La Morgia, Chiara
Smirnov, Dmitrii
Vasilescu, Catalina
Farzeen, Aiman
Blickhaeuser, Beryll
Prokisch, Holger
Priglinger, Claudia
Livonius, Bettina
Catarino, Claudia B.
Klopstock, Thomas
Tiranti, Valeria
Carelli, Valerio
Ghelli, Anna Maria; Show more
Source:: In Cell Reports Medicine 20 February 2024 5(2)

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Title:: Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation
Authors:: Cavestro, Chiara
Panteghini, Celeste
Reale, Chiara
Nasca, Alessia
Fenu, Silvia
Salsano, Ettore
Chiapparini, Luisa
Garavaglia, Barbara
Pareyson, Davide
Di Meo, Ivano
Tiranti, Valeria; Show more
Source:: neurogenetics. 22(4):347-351

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Title:: Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype
Authors:: Santambrogio, Paolo
Ripamonti, MaddalenaAff1, Aff2
Cozzi, Anna
Raimondi, MarziaAff1, Aff2
Cavestro, Chiara
Di Meo, Ivano
Rubio, AliciaAff1, Aff4
Taverna, Stefano
Tiranti, ValeriaAff3, IDs4141902204626x_cor9
Levi, SoniaAff1, Aff2, IDs4141902204626x_cor10; Show more
Source:: Cell Death & Disease. 13(2)

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Title:: Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A
Authors:: Peron, Camille
Cavaliere, Andrea
Fasano, Chiara
Iannielli, Angelo
Spagnolo, Manuela
Legati, Andrea
Nicol Colombo, Maria
Rizzo, Ambra
Sciacca, Francesca L.
Carelli, Valerio
Broccoli, Vania
Lamperti, Costanza
Tiranti, Valeria; Show more
Source:: In Stem Cell Research June 2024 77

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Title:: Inborn errors of coenzyme A metabolism and neurodegeneration
Authors:: Di Meo, Ivano
Carecchio, MiryamAff1, Aff2, Aff3
Tiranti, Valeria; Show more
Source:: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-7

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Title:: Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Authors:: Catania, AlessiaAff1, Aff2
Iuso, ArcangelaAff3, Aff4
Bouchereau, JulietteAff1, Aff5
Kremer, Laura S.Aff3, Aff4
Paviolo, MarinaAff1, Aff5
Terrile, Caterina
Bénit, Paule
Rasmusson, Allan G.
Schwarzmayr, ThomasAff3, Aff7
Tiranti, Valeria
Rustin, Pierre
Rak, Malgorzata
Prokisch, HolgerAff3, Aff4
Schiff, ManuelAff1, Aff5; Show more
Source:: Orphanet Journal of Rare Diseases. 14(1)

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Title:: Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
Authors:: Carecchio, Miryam
Picillo, Marina
Valletta, Lorella
Elia, Antonio E.
Haack, Tobias B.
Cozzolino, Autilia
Vitale, Annalisa
Garavaglia, Barbara
Iuso, Arcangela
Bagella, Caterina F.
Pappatà, Sabina
Barone, Paolo
Prokisch, Holger
Romito, Luigi
Tiranti, Valeria; Show more
Source:: neurogenetics. July 2017 18(3):175-178

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Title:: Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways
Authors:: Podrini, ChristineAff1, Aff2
Rowe, Isaline
Pagliarini, RobertoAff1, Aff3
Costa, Ana S. H.
Chiaravalli, Marco
Di Meo, Ivano
Kim, HyunhoAff6, Aff8
Distefano, Gianfranco
Tiranti, Valeria
Qian, Feng
di Bernardo, DiegoAff3, Aff7
Frezza, Christian
Boletta, Alessandra; Show more
Source:: Communications Biology. 1(1)

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Title:: C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation
Authors:: Panteghini, Celeste
Zorzi, Giovanna
Venco, Paola
Dusi, Sabrina
Reale, Chiara
Brunetti, Dario
Chiapparini, Luisa
Zibordi, Federica
Siegel, Brigitte
Garavaglia, Barbara
Simonati, Alessandro
Bertini, Enrico
Nardocci, Nardo
Tiranti, Valeria; Show more
Source:: In Seminars in Pediatric Neurology June 2012 19(2):75-81

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Title:: Ethylmalonic Encephalopathy and Acrocyanosis
Authors:: Mineri, Rossana
Tiranti, Valeria; Show more
Source:: Encyclopedia of Molecular Mechanisms of Disease. :620-622

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