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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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Dettagli Bibliografici
Autori principali: Hewett, Jeffrey W., Tannous, Bakhos, Niland, Brian P., Nery, Flavia C., Zeng, Juan, Li, Yuqing, Breakefield, Xandra O.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2007
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Accesso online: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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