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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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Hewett, Jeffrey W., Tannous, Bakhos, Niland, Brian P., Nery, Flavia C., Zeng, Juan, Li, Yuqing, Breakefield, Xandra O.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: National Academy of Sciences 2007
Θέματα:
Διαθέσιμο 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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