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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Bibliografiske detaljer
Main Authors: Hewett, Jeffrey W., Tannous, Bakhos, Niland, Brian P., Nery, Flavia C., Zeng, Juan, Li, Yuqing, Breakefield, Xandra O.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2007
Fag:
Biological Sciences
Online adgang: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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