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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Transl Psychiatry
Prif Awduron: Schneider, Andrea, Winarni, Tri Indah, Cabal-Herrera, Ana María, Bacalman, Susan, Gane, Louise, Hagerman, Paul, Tassone, Flora, Hagerman, Randi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2020
Pynciau:
Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg