MtDNA-maintenance defects: syndromes and genes

por Viscomi, Carlo, Zeviani, Massimo
Publicado 2017

Human diseases associated with defects in assembly of OXPHOS complexes

por Ghezzi, Daniele, Zeviani, Massimo
Publicado 2018

Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions

por Protasoni, Margherita, Zeviani, Massimo
Publicado 2021

Mitochondrial Retinopathies

por Zeviani, Massimo, Carelli, Valerio
Publicado 2021

Mitochondrial Neurodegeneration

por Zeviani, Massimo, Viscomi, Carlo
Publicado 2022

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

por Fernández-Vizarra, Erika, Zeviani, Massimo
Publicado 2015

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation

por Ersoy, Melike, Tiranti, Valeria, Zeviani, Massimo
Publicado 2020

RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA

por Reyes, Aurelio, Rusecka, Joanna, Tońska, Katarzyna, Zeviani, Massimo
Publicado 2020

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene

por AlSaman, Abdulaziz, Tomoum, Hoda, Invernizzi, Federica, Zeviani, Massimo
Publicado 2012

RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases

por Reyes, Aurelio, Favia, Paola, Vidoni, Sara, Petruzzella, Vittoria, Zeviani, Massimo
Publicado 2020

Double administration of self-complementary AAV9(NDUFS4) prevents Leigh disease in Ndufs4(−/−) mice

por Corrà, Samantha, Cerutti, Raffaele, Balmaceda, Valeria, Viscomi, Carlo, Zeviani, Massimo
Publicado 2022

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber’s hereditary optic neuropathy

por Hudson, Gavin, Yu-Wai-Man, Patrick, Zeviani, Massimo, Chinnery, Patrick F.
Publicado 2009

A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4(−/−) Mice

por Silva-Pinheiro, Pedro, Cerutti, Raffaele, Luna-Sanchez, Marta, Zeviani, Massimo, Viscomi, Carlo
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

Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications

por Hildebrandt, Tatjana M., Di Meo, Ivano, Zeviani, Massimo, Viscomi, Carlo, Braun, Hans-Peter
Publicado 2013

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

por Kasapkara, Çiğdem Seher, Tümer, Leyla, Zanetti, Nadia, Ezgü, Fatih, Lamantea, Eleonora, Zeviani, Massimo
Publicado 2017

Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions

por Reyes, Aurelio, Melchionda, Laura, Burlina, Alberto, Robinson, Alan J, Ghezzi, Daniele, Zeviani, Massimo
Publicado 2018

Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes

por Brischigliaro, Michele, Cabrera-Orefice, Alfredo, Arnold, Susanne, Viscomi, Carlo, Zeviani, Massimo, Fernández-Vizarra, Erika
Publicado 2023

How Do Human Cells React to the Absence of Mitochondrial DNA?

por Mineri, Rossana, Pavelka, Norman, Fernandez-Vizarra, Erika, Ricciardi-Castagnoli, Paola, Zeviani, Massimo, Tiranti, Valeria
Publicado 2009