Article
A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR.
Proceedings of the National Academy of Sciences of the United States of America - 24 Nov 2015
Suhl Joshua A, Muddashetty Ravi S, Anderson Bart R, Ifrim Marius F, Visootsak Jeannie, Bassell Gary J, Warren Stephen T
Abstract excerpt
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 located in the 3'UTR of FMR1 enriched among developmentally delayed males with normal repeat lengths. A...
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