Article

The role of N-terminal modification of MeCP2 in the pathophysiology of Rett syndrome

2017-03-30

Abstract excerpt

Methyl CpG-binding protein 2 (MeCP2), the mutated protein in Rett syndrome (RTT), is a crucial chromatin-modifying and gene-regulatory protein that has two main isoforms (MeCP2_E1 and MeCP2_ E2) due to the alternative splicing and switching between translation start codons in exons one and two. Functionally, these two isoforms appear to be virtually identical; however, evidence suggests that only MeCP2_E1 is relev...

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Literature Corpus work: 0de07571-1f3b-5abd-b730-74fee8429346
DOI: 10.1101/122564

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