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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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Bibliografische gegevens
Hoofdauteurs: Hewett, Jeffrey W., Tannous, Bakhos, Niland, Brian P., Nery, Flavia C., Zeng, Juan, Li, Yuqing, Breakefield, Xandra O.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2007
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Online toegang: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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