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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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| Izdano u: | Proc Natl Acad Sci U S A |
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| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
2015
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| Teme: | |
| Online pristup: | 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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