Cholinergic dysregulation produced by selective inactivation of the dystonia-associated protein TorsinA

DYT1 dystonia, a common and severe primary dystonia, is caused by a 3-bp deletion in TOR1A which encodes torsinA, a protein found in the endoplasmic reticulum. Several cellular functions are altered by the mutant protein, but at a systems level the link between these and the symptoms of the disease...

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Autors principals: Sciamanna, Giuseppe, Hollis, Robert, Ball, Chelsea, Martella, Giuseppina, Tassone, Annalisa, Marshall, Andrea, Parsons, Dee, Li, Xinru, Yokoi, Fumiaki, Zhang, Lin, Li, Yuqing, Pisani, Antonio, Standaert, David G.
Format: Artigo
Idioma:Inglês
Publicat: 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3392411/
https://ncbi.nlm.nih.gov/pubmed/22579992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2012.04.015
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