Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations

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 unmet...

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Udgivet i:Transl Psychiatry
Main Authors: Schneider, Andrea, Winarni, Tri Indah, Cabal-Herrera, Ana María, Bacalman, Susan, Gane, Louise, Hagerman, Paul, Tassone, Flora, Hagerman, Randi
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7311546/
https://ncbi.nlm.nih.gov/pubmed/32576818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41398-020-00863-w
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