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Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by a polyglutamine expansion in the protein ATXN1, which is involved in transcriptional regulation. Although symptoms appear relatively late in life, primarily from cerebellar dysfunction, pathogenesis begins ear...
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| Publicado no: | J Clin Invest |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5983343/ https://ncbi.nlm.nih.gov/pubmed/29533923 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI96765 |
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