siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells

Most cases of the dominantly inherited movement disorder, early onset torsion dystonia (DYT1) are caused by a mutant form of torsinA lacking a glutamic acid residue in the C-terminal region (torsinAΔE). TorsinA is an AAA+ protein located predominantly in the lumen of the endoplasmic reticulum (ER) a...

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Detalhes bibliográficos
Principais autores: Hewett, Jeffrey W., Nery, Flávia C., Niland, Brian, Ge, Pei, Tan, Pamela, Hadwiger, Philipp, Tannous, Bakhos A., Sah, Dinah W.Y., Breakefield, Xandra O.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2008
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2861568/
https://ncbi.nlm.nih.gov/pubmed/18258738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn032
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