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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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Autori principali: Xu, Guoqiang, Jiang, Xiaogang, Jaffrey, Samie R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2013
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Accesso online: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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