Study of expression levels in MECP2 related disorders using transcriptomics and proteomics: characterizing Rett syndrome and MECP2 duplication syndrome 

Pascual Alonso, Ainhoa (Date of defense: 2023-07-14)

[eng] MECP2 is a multifunctional gene involved in multiple processes such as transcription regulation, chromatin remodelling, splicing and miRNA regulation. Malfunction of MECP2 due to loss of function mutations leads to ...