Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome

Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome

Abstract Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. How the loss or defective function of MeCP2 mediates RTT is still poorly understood. MeCP2 is a global gene expression regulator, acting at transcriptio...

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Bibliographic Details
Main Authors: Silvia Gioiosa, Silvia Gasparini, Carlo Presutti, Arianna Rinaldi, Tiziana Castrignanò, Cecilia Mannironi
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Scientific Reports
Subjects:
Rett syndrome
RNA-seq
Gene expression
Alternative splicing
Online Access:https://doi.org/10.1038/s41598-025-86114-8
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