The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response

Early-onset torsion dystonia is the most severe heritable form of dystonia, a human movement disorder that typically starts during a developmental window in early adolescence. Deletion in the DYT1 gene, encoding the torsinA protein, is responsible for this dominantly inherited disorder, which is non...

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Hlavní autoři: Chen, Pan, Burdette, Alexander J., Porter, J. Christopher, Ricketts, John C., Fox, Stacey A., Nery, Flavia C., Hewett, Jeffrey W., Berkowitz, Laura A., Breakefield, Xandra O., Caldwell, Kim A., Caldwell, Guy A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928126/
https://ncbi.nlm.nih.gov/pubmed/20584926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq266
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