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Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Defects of mitochondrial DNA (mtDNA) maintenance have recently been associated with inherited neurodegenerative and muscle diseases and the aging process. Twinkle is a nuclear-encoded mtDNA helicase, dominant mutations of which cause adult-onset progressive external ophthalmoplegia (PEO) with multip...

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Main Authors: Tyynismaa, Henna, Mjosund, Katja Peltola, Wanrooij, Sjoerd, Lappalainen, Ilse, Ylikallio, Emil, Jalanko, Anu, Spelbrink, Johannes N., Paetau, Anders, Suomalainen, Anu
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 2005
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1308896/
https://ncbi.nlm.nih.gov/pubmed/16301523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0505551102
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