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Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA

Mutations in the ATP6 gene of mtDNA (mitochondrial DNA) have been shown to cause several different neurological disorders. The product of this gene is ATPase 6, an essential component of the F(1)F(0)-ATPase. In the present study we show that the function of the F(1)F(0)-ATPase is impaired in lymphoc...

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Autors principals: Sgarbi, Gianluca, Baracca, Alessandra, Lenaz, Giorgio, Valentino, Lucia M., Carelli, Valerio, Solaini, Giancarlo
Format: Artigo
Idioma:Inglês
Publicat: Portland Press Ltd. 2006
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1462703/
https://ncbi.nlm.nih.gov/pubmed/16402916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20051748
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