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Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
TorsinA is an AAA(+) protein located predominantly in the lumen of the endoplasmic reticulum (ER) and nuclear envelope responsible for early onset torsion dystonia (DYT1). Most cases of this dominantly inherited movement disorder are caused by deletion of a glutamic acid in the carboxyl terminal reg...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
National Academy of Sciences
2007
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1855419/ https://ncbi.nlm.nih.gov/pubmed/17428918 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0701185104 |
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