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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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Detalhes bibliográficos
Main Authors: Hewett, Jeffrey W., Tannous, Bakhos, Niland, Brian P., Nery, Flavia C., Zeng, Juan, Li, Yuqing, Breakefield, Xandra O.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2007
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Acesso em linha: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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