Loss of O-GlcNAcylation on MeCP2 Thr 203 Leads to Neurodevelopmental Disorders

Abstract excerpt

Mutations of the X-linked methyl-CpG-binding protein 2 ( MECP2 ) gene in humans are responsible for most cases of Rett syndrome (RTT), an X-linked progressive neurological disorder. While genome-wide screens in clinical trials reveal several putative RTT-associated mutations on MECP2 , their causative relevance regarding the functional regulation of MeCP2 on the etiologic sites at the protein level require more...

Topics

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• Central Nervous System
• Gene Expression Regulation
• Methyl-CpG-Binding Protein 2
• Mice
• Mutation
• Neurons
• Rett Syndrome
• RNA Splicing

Identifiers and source

Literature Corpus work

85eaaa3a-8ea7-5266-94ce-51442a8a4d5e

DOI

10.1101/2020.06.17.158311