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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Detalles Bibliográficos
Autores principales: Schneider, Andrea, Winarni, Tri Indah, Cabal-Herrera, Ana María, Bacalman, Susan, Gane, Louise, Hagerman, Paul, Tassone, Flora, Hagerman, Randi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311546/
https://www.ncbi.nlm.nih.gov/pubmed/32576818
http://dx.doi.org/10.1038/s41398-020-00863-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311546/
https://www.ncbi.nlm.nih.gov/pubmed/32576818
http://dx.doi.org/10.1038/s41398-020-00863-w

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