FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm.
Fragile X syndrome (FXS) is a neurodevelopmental disorder that is often modeled in Fmr1 knockout mice where the RNA-binding protein FMRP is absent. Here, we show that in Fmr1-deficient mice, RNA mis-splicing occurs in several brain regions and peripheral tissues. To assess molecular mechanisms of sp...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2023-12-01
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Series: | PLoS Biology |
Online Access: | https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.3002417&type=printable |