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TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

Genetic redundancy can be exploited to identify therapeutic targets for inherited disorders. We explored this possibility in DYT1 dystonia, a neurodevelopmental movement disorder caused by a loss-of-function (LOF) mutation in the TOR1A gene encoding torsinA. Prior work demonstrates that torsinA and...

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Publicado en:eLife
Autores principales: Li, Jay, Liang, Chun-Chi, Pappas, Samuel S, Dauer, William T
Formato: Artigo
Lenguaje:Inglês
Publicado: eLife Sciences Publications, Ltd 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7141835/
https://ncbi.nlm.nih.gov/pubmed/32202496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.54285
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