Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities

Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities

Primary torsion dystonia is an autosomal-dominant inherited movement disorder. Most cases are caused by an in-frame deletion (GAG) of the DYT1 gene encoding torsinA. Reduced penetrance and phenotypic variability suggest that alteration of torsinA amino acid sequence is necessary but not sufficient f...

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Bibliographic Details
Main Authors: K. Grundmann, B. Reischmann, G. Vanhoutte, J. Hübener, P. Teismann, T.-K. Hauser, M. Bonin, J. Wilbertz, S. Horn, H.P. Nguyen, M. Kuhn, S. Chanarat, H. Wolburg, A. Van der Linden, O. Riess
Format: Article
Language:English
Published: Elsevier 2007-08-01
Series:Neurobiology of Disease
Subjects:
Primary torsion dystonia
TorsinA
DYT1
Transgenic mouse model
Nuclear envelope
DTI-MRI
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996107000885

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http://www.sciencedirect.com/science/article/pii/S0969996107000885

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