Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in Mice Implicates Novel Pathways in Dystonia Pathogenesis

Dystonia type 1 (DYT1) is a dominantly inherited neurological disease caused by mutations in TOR1A, the gene encoding the endoplasmic reticulum (ER)-resident protein torsinA. Previous work mostly completed in cell-based systems suggests that mutant torsinA alters protein processing in the secretory...

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Pubblicato in:J Neurosci
Autori principali: Beauvais, Genevieve, Bode, Nicole M., Watson, Jaime L., Wen, Hsiang, Glenn, Kevin A., Kawano, Hiroyuki, Harata, N. Charles, Ehrlich, Michelle E., Gonzalez-Alegre, Pedro
Natura: Artigo
Lingua:Inglês
Pubblicazione: Society for Neuroscience 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5050323/
https://ncbi.nlm.nih.gov/pubmed/27707963
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.0669-16.2016
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