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β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi
Spinocerebellar ataxia type 5 (SCA5) is an autosomal dominant neurodegenerative disorder caused by mutations in β-III spectrin. A mouse lacking full-length β-III spectrin has a phenotype closely mirroring symptoms of SCA5 patients. Here we report the analysis of heterozygous animals, which show no s...
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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Oxford University Press
2010
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2928133/ https://ncbi.nlm.nih.gov/pubmed/20603325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq279 |
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