A 3′ untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR

Fragile X syndrome is a common cause of intellectual disability and autism spectrum disorder. The gene underlying the disorder, fragile X mental retardation 1 (FMR1), is silenced in most cases by a CGG-repeat expansion mutation in the 5′ untranslated region (UTR). Recently, we identified a variant l...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Suhl, Joshua A., Muddashetty, Ravi S., Anderson, Bart R., Ifrim, Marius F., Visootsak, Jeannie, Bassell, Gary J., Warren, Stephen T.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2015
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PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4664359/
https://ncbi.nlm.nih.gov/pubmed/26554012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1514260112
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