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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3914475/
https://ncbi.nlm.nih.gov/pubmed/24369379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt343
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