Article
Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.
Translational psychiatry - 23 Jun 2020
Schneider Andrea, Winarni Tri Indah, Cabal-Herrera Ana María, Bacalman Susan, Gane Louise, Hagerman Paul, Tassone Flora, Hagerman Randi
Abstract excerpt
Fragile X syndrome (FXS) is caused by a full mutation of the FMR1 gene (>200 CGG repeats and subsequent methylation), such that there is little or no FMR1 protein (FMRP) produced, leading to intellectual disability (ID). Individuals with the premutation allele (55-200 CGG repeats, generally unmethylated) have elevated FMR1 mRNA levels, a consequence of enhanced transcription, resulting in neuronal toxicity and a...
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