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Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.

A point mutation in the mtDNA-encoded ATP6 gene (T-->G at nt 8993) associated with Leigh syndrome in two pedigrees was found to decrease ADP-stimulated (state III) respiration and the ratio of ADP molecules phosphorylated to oxygen atoms reduced (ADP/O ratio) but did not affect 2,4-dinitrophenol...

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Dettagli Bibliografici
Autori principali: Trounce, I, Neill, S, Wallace, D C
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC44600/
https://ncbi.nlm.nih.gov/pubmed/8078883
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