Ontology highlight
ABSTRACT:
SUBMITTER: Gulmez Karaca K
PROVIDER: S-EPMC6769791 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Gulmez Karaca Kubra K Brito David V C DVC Oliveira Ana M M AMM
International journal of molecular sciences 20190916 18
Methyl CpG binding protein 2 (MeCP2) was first identified as a nuclear protein with a transcriptional repressor role that recognizes DNA methylation marks. MeCP2 has a well-established function in neurodevelopment, as evidenced by the severe neurological impairments characteristic of the Rett syndrome (RTT) pathology and the MeCP2 duplication syndrome (MDS), caused by loss or gain of MeCP2 function, respectively. Research aimed at the underlying pathophysiological mechanisms of RTT and MDS has s ...[more]