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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Bibliografiset tiedot
Julkaisussa:Transl Psychiatry
Päätekijät: Schneider, Andrea, Winarni, Tri Indah, Cabal-Herrera, Ana María, Bacalman, Susan, Gane, Louise, Hagerman, Paul, Tassone, Flora, Hagerman, Randi
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2020
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Article
Linkit: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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