Generation of a novel rodent model for DYT1 dystonia

Generation of a novel rodent model for DYT1 dystonia

A mutation in the coding region of the Tor1A gene, resulting in a deletion of a glutamic acid residue in the torsinA protein (∆ETorA), is the major cause of the inherited autosomal-dominant early onset torsion dystonia (DYT1). The pathophysiological consequences of this amino acid loss are still not...

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Bibliographic Details
Main Authors: Kathrin Grundmann, Nicola Glöckle, Giuseppina Martella, Giuseppe Sciamanna, Till-Karsten Hauser, Libo Yu, Salvador Castaneda, Bernd Pichler, Birgit Fehrenbacher, Martin Schaller, Brigitte Nuscher, Christian Haass, Jasmin Hettich, Zhenyu Yue, Huu Phuc Nguyen, Antonio Pisani, Olaf Riess, Thomas Ott
Format: Article
Language:English
Published: Elsevier 2012-07-01
Series:Neurobiology of Disease
Subjects:
Transgenic rat model
TorsinA
DYT1 dystonia
Movement disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996112000952

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http://www.sciencedirect.com/science/article/pii/S0969996112000952

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