Ontology highlight
ABSTRACT:
SUBMITTER: Steinkellner H
PROVIDER: S-EPMC6538716 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Steinkellner Hannes H Schönegger Anna A Etzler Julia J Kempaiah Prakasha P Huber Anna A Hahn Kathrin K Rose Katrin K Duerr Mark M Christodoulou John J Beribisky Alexander V AV Neuhaus Winfried W Laccone Franco F
Scientific reports 20190528 1
Methyl-CpG-binding protein 2 (MeCP2) is a multifunctional chromosomal protein that plays a key role in the central nervous system. Its levels need to be tightly regulated, as both deficiency and excess of the protein can lead to severe neuronal dysfunction. Loss-of-function mutations affecting MeCP2 are the primary cause of Rett syndrome (RTT), a severe neurological disorder that is thought to result from absence of functional protein in the brain. Several therapeutic strategies for the treatmen ...[more]