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Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
Primary dystonia is a disease characterized by involuntary twisting movements caused by CNS dysfunction without underlying histopathology. DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (ΔE302/3) in the TOR1A gene that encodes the endoplasmic reticulum luminal protein...
Tallennettuna:
| Julkaisussa: | Proc Natl Acad Sci U S A |
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| Päätekijät: | , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
National Academy of Sciences
2004
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC321769/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/14711988/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0304375101 |
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