Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons

Abstract Background Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by loss of fragile X messenger ribonucleoprotein (FMRP). In most cases, this results from a CGG expansion exceeding 200 repeats in the 5’ untranslated region of the fragile X messenger ribonucleoprotein 1 (FMR1) gen...

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Huvudupphov:	Shaima M. Hourani, Kagistia Hana Utami, Sher Li Oh, Maija L. Castrén, Mahmoud A. Pouladi
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	BMC 2026-04-01
Serie:	Journal of Neurodevelopmental Disorders
Ämnen:	Fragile X syndrome FMR1 mis-splicing RNA splicing FMR1 reactivation 5AzadC Human neurons
Länkar:	https://doi.org/10.1186/s11689-026-09686-0
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