Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

Leber’s hereditary optic neuropathy is a maternally inherited blinding disease caused as a result of homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. It is characterized by incomplete penetrance, as only some mutation carriers become affected. Thus, the mitochondrial DNA...

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Detalles Bibliográficos
Autores principales: Giordano, Carla, Iommarini, Luisa, Giordano, Luca, Maresca, Alessandra, Pisano, Annalinda, Valentino, Maria Lucia, Caporali, Leonardo, Liguori, Rocco, Deceglie, Stefania, Roberti, Marina, Fanelli, Francesca, Fracasso, Flavio, Ross-Cisneros, Fred N., D’Adamo, Pio, Hudson, Gavin, Pyle, Angela, Yu-Wai-Man, Patrick, Chinnery, Patrick F., Zeviani, Massimo, Salomao, Solange R., Berezovsky, Adriana, Belfort, Rubens, Ventura, Dora Fix, Moraes, Milton, Moraes Filho, Milton, Barboni, Piero, Sadun, Federico, De Negri, Annamaria, Sadun, Alfredo A., Tancredi, Andrea, Mancini, Massimiliano, d’Amati, Giulia, Loguercio Polosa, Paola, Cantatore, Palmiro, Carelli, Valerio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914475/
https://www.ncbi.nlm.nih.gov/pubmed/24369379
http://dx.doi.org/10.1093/brain/awt343

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