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Article

Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model.

Neurobiology of disease - 1 Apr 2024

Reinhold Colette, Knorr Susanne, McFleder Rhonda L, Rauschenberger Lisa, Muthuraman Muthuraman, Arampatzi Panagiota, Gräfenhan Tom, Schlosser Andreas, Sendtner Michael, Volkmann Jens, Ip Chi Wang

Abstract excerpt

DYT-TOR1A dystonia is the most common monogenic dystonia characterized by involuntary muscle contractions and lack of therapeutic options. Despite some insights into its etiology, the disease's pathophysiology remains unclear. The reduced penetrance of about 30% suggests that extragenetic factors are needed to develop a dystonic phenotype. In order to systematically investigate this hypothesis, we induced a...

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PMID: 38402912
DOI: 10.1016/j.nbd.2024.106453

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