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A Mental Retardation-linked Nonsense Mutation in Cereblon Is Rescued by Proteasome Inhibition
A nonsense mutation in cereblon (CRBN) causes autosomal recessive nonsyndromic mental retardation. Cereblon is a substrate receptor for the Cullin-RING E3 ligase complex and couples the ubiquitin ligase to specific ubiquitination targets. The CRBN nonsense mutation (R419X) results in a protein lacki...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Biochemistry and Molecular Biology
2013
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3795255/ https://ncbi.nlm.nih.gov/pubmed/23983124 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M113.472092 |
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