Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206

Dysfunction of mitochondrial ATPase (F(1)F(o)-ATP synthase) due to missense mutations in ATP6 [mtDNA (mitochondrial DNA)-encoded subunit a] is a frequent cause of severe mitochondrial encephalomyopathies. We have investigated a rare mtDNA mutation, i.e. a 2 bp deletion of TA at positions 9205 and 92...

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Autores principales: Ješina, Pavel, Tesařová, Markéta, Fornůsková, Daniela, Vojtíšková, Alena, Pecina, Petr, Kaplanová, Vilma, Hansíková, Hana, Zeman, Jiří, Houštěk, Josef
Formato: Artigo
Lenguaje:Inglês
Publicado: Portland Press Ltd. 2004
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1133750/
https://ncbi.nlm.nih.gov/pubmed/15265003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20040407
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