FMRP-Regulated Alternative Splicing is Multifactorial and Resembles Splicing Control by MBNL1

Abstract excerpt

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 splicing mis-regulation, we employed N2A cells depleted of Fmr1 . In the absence of FMRP, RNA-specific exon skipping...

Topics

Open a Topic to create a Post that cites this publication.

• Ataxia
• Cytoplasm
• Fragile X Mental Retardation Protein
• Fragile X Syndrome
• Primary Ovarian Insufficiency
• Ribonucleoproteins
• RNA Editing
• Tremor

Identifiers and source

Literature Corpus work

34231073-ce33-5abd-9bbf-fcccb9b622b2

DOI

10.1101/2022.08.02.502495