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Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

In humans, MPV17 mutations are responsible for severe mitochondrial depletion syndrome, mainly affecting the liver and the nervous system. To gain insight into physiopathology of MPV17-related disease, we investigated an available Mpv17 knockout animal model. We found severe mtDNA depletion in liver...

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Autori principali: Viscomi, Carlo, Spinazzola, Antonella, Maggioni, Marco, Fernandez-Vizarra, Erika, Massa, Valeria, Pagano, Claudio, Vettor, Roberto, Mora, Marina, Zeviani, Massimo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2644642/
https://ncbi.nlm.nih.gov/pubmed/18818194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn309
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