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Consequences of the DYT1 mutation on torsinA oligomerization and degradation

DYT1 is the most common inherited dystonia, a neurological syndrome that causes disabling involuntary muscle contractions. This autosomal dominant disease is caused by a glutamic acid deletion near the carboxy-terminus in the protein torsinA. Cell and animal based studies have shown how the DYT1 mut...

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Bibliografski detalji
Glavni autori: Gordon, Kara L., Gonzalez-Alegre, Pedro
Format: Artigo
Jezik:Inglês
Izdano: 2008
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2605671/
https://ncbi.nlm.nih.gov/pubmed/18940237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuroscience.2008.09.028
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