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Aberrant Cellular Behavior of Mutant TorsinA Implicates Nuclear Envelope Dysfunction in DYT1 Dystonia
Torsion dystonia-1 (DYT1) dystonia, the most common inherited form of dystonia, is caused by a three base pair deletion that eliminates a single amino acid from the disease protein, torsinA. TorsinA is an “AAA” protein thought to reside in the endoplasmic reticulum (ER), yet both its cellular functi...
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| Publicado no: | J Neurosci |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Society for Neuroscience
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6729521/ https://ncbi.nlm.nih.gov/pubmed/15028751 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.4461-03.2004 |
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