Article
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
Proceedings of the National Academy of Sciences of the United States of America - 6 Dec 2005
Tyynismaa Henna, Mjosund Katja Peltola, Wanrooij Sjoerd, Lappalainen Ilse, Ylikallio Emil, Jalanko Anu, Spelbrink Johannes N, Paetau Anders, Suomalainen Anu
Abstract excerpt
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 multiple mtDNA deletions. We have generated transgenic mice expressing mouse Twinkle with PEO patient mutations. Multiple...
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