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Article

Molecular Context-Dependent Effects Induced by Rett Syndrome-Associated Mutations in MeCP2.

Biomolecules - 10 Nov 2020

Ortega-Alarcon David, Claveria-Gimeno Rafael, Vega Sonia, Jorge-Torres Olga C, Esteller Manel, Abian Olga, Velazquez-Campoy Adrian

Abstract excerpt

Methyl-CpG binding protein 2 (MeCP2) is a transcriptional regulator and a chromatin-binding protein involved in neuronal development and maturation. Loss-of-function mutations in MeCP2 result in Rett syndrome (RTT), a neurodevelopmental disorder that is the main cause of mental retardation in females. MeCP2 is an intrinsically disordered protein (IDP) constituted by six domains. Two domains are the main...

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PMID: 33182787
DOI: 10.3390/biom10111533
PMCID: PMC7696773

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