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siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells
Most cases of the dominantly inherited movement disorder, early onset torsion dystonia (DYT1) are caused by a mutant form of torsinA lacking a glutamic acid residue in the C-terminal region (torsinAΔE). TorsinA is an AAA+ protein located predominantly in the lumen of the endoplasmic reticulum (ER) a...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2008
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2861568/ https://ncbi.nlm.nih.gov/pubmed/18258738 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn032 |
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