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November 21, 2005Proceedings of the National Academy of SciencesOpen Access

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

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HTHenna TyynismaaUniversity of HelsinkiKMKatja Peltola MjøsundUniversity of HelsinkiSWSjoerd WanrooijUmeå University

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Tyynismaa et al. (2005) studied this question.

synapsesocial.com/papers/69d8176905ee2ba81dbef0c4https://doi.org/10.1073/pnas.0505551102
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans2005 · 166 citations
  2. 2Adult mouse brain gene expression patterns bear an embryologic imprint2005 · 189 citations
  3. 3Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA2004 · 128 citations
  4. 4<i>POLG</i> mutations in neurodegenerative disorders with ataxia but no muscle involvement2004 · 261 citations