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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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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2008
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| Assuntos: | |
| Acceso en liña: | 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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