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Kuner, R; Teismann, P; Trutzel, A; Naim, J; Richter, A; Schmidt, N; Bach, A; Ferger, B; Schneider, A (2004). TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice. Neuroscience Letters, 355(1-2):126-130.

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Early-onset torsion dystonias are caused by a mutation in TorsinA, a protein widely expressed in the nervous system. Here we report the cloning of the murine TorsinA cDNA and a mRNA in situ hybridization analysis of the expression patterns of TorsinA over developmental periods relevant to the etiology of early-onset dystonias. Several studies have demonstrated a functional involvement of the nigrostriatal dopaminergic system in pathological mechanisms underlying dystonia. In this study, we show that the expression of TorsinA is significantly increased in the brain within hours of treatment with the dopaminergic toxin, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine in mice, suggesting that the TorsinA gene is regulated by cellular stress. These results provide insights into the pathophysiology of early-onset dystonia and strengthen links between the dopaminergic system and dystonia.


20 citations in Web of Science®
21 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Psychiatric University Hospital Zurich > Division of Psychiatric Research and Clinic for Psychogeriatric Medicine
Dewey Decimal Classification:610 Medicine & health
Deposited On:13 Sep 2011 07:28
Last Modified:05 Apr 2016 15:00
Publisher DOI:10.1016/j.neulet.2003.10.069
PubMed ID:14729251

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