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Characterization of human torsinA and its dystonia-associated mutant form.

Deletion of a single glutamate in torsinA correlates with early-onset dystonia, the most severe form of a neurological disorder characterized by uncontrollable muscle contractions. TorsinA is targeted to the ER (endoplasmic reticulum) in eukaryotic cells. We investigated the processing and membrane...

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Autors principals: Liu, Zhonghua, Zolkiewska, Anna, Zolkiewski, Michal
Format: Artigo
Idioma:Inglês
Publicat: 2003
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1223590/
https://ncbi.nlm.nih.gov/pubmed/12780349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20030258
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