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DYT1 knock-in mice are not sensitized against mitochondrial complex-II inhibition.
DYT1 is caused by a partly penetrant dominant mutation in TOR1A that leads to a glutamic acid deletion (ΔE) in torsinA. Identifying environmental factors that modulate disease pathogenesis and penetrance could help design therapeutic strategies for dystonia. Several cell-based studies suggest that e...
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| 主要な著者: | , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Public Library of Science (PLoS)
2012-01-01
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| シリーズ: | PLoS ONE |
| オンライン･アクセス: | http://europepmc.org/articles/PMC3411799?pdf=render |
| タグ: |
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