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

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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Bibliographic Details
Main Authors: Giuseppe Sciamanna, Robert Hollis, Chelsea Ball, Giuseppina Martella, Annalisa Tassone, Andrea Marshall, Dee Parsons, Xinru Li, Fumiaki Yokoi, Lin Zhang, Yuqing Li, Antonio Pisani, David G. Standaert
Format: Article
Language:English
Published: Elsevier 2012-09-01
Series:Neurobiology of Disease
Subjects:
DYT1
TorsinA
Dystonia
Cholinergic interneuron
Acetylcholine
Conditional knock-out
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996112001611

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http://www.sciencedirect.com/science/article/pii/S0969996112001611

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