Regulation of mRNA splicing by MeCP2 via epigenetic modifications in the brain

TL Cheng, J Chen, H Wan, B Tang, W Tian, L Liao… - Scientific reports, 2017 - nature.com
Mutations of X-linked gene Methyl CpG binding protein 2 (MECP2) are the major causes of
Rett syndrome (RTT), a severe neurodevelopmental disorder. Duplications of MECP2 …

MeCP2-related diseases and animal models

CD Ezeonwuka, M Rastegar - Diseases, 2014 - mdpi.com
The role of epigenetics in human disease has become an area of increased research
interest. Collaborative efforts from scientists and clinicians have led to a better …

Role of DNA methyl-CpG-binding protein MeCP2 in Rett syndrome pathobiology and mechanism of disease

S Pejhan, M Rastegar - Biomolecules, 2021 - mdpi.com
Rett Syndrome (RTT) is a severe, rare, and progressive developmental disorder with
patients displaying neurological regression and autism spectrum features. The affected …

Mecp2-Null Mice Provide New Neuronal Targets for Rett Syndrome

RG Urdinguio, L Lopez-Serra, P Lopez-Nieva… - PloS one, 2008 - journals.plos.org
Background Rett syndrome (RTT) is a complex neurological disorder that is one of the most
frequent causes of mental retardation in women. A great landmark in research in this field …

A Novel Mecp2Y120D Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision …

A Gandaglia, E Brivio, S Carli, M Palmieri… - Molecular …, 2019 - Springer
MeCP2 is a fundamental protein associated with several neurological disorders, including
Rett syndrome. It is considered a multifunctional factor with a prominent role in regulating …

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

B Kerr, J Soto C, M Saez, A Abrams, K Walz… - European Journal of …, 2012 - nature.com
Rett syndrome (RTT) is a disorder that affects patients' ability to communicate, move and
behave. RTT patients are characterized by impaired language, stereotypic behaviors …

Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

RC Samaco, RP Nagarajan… - Human molecular …, 2004 - academic.oup.com
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in MECP2,
encoding methyl-CpG-binding protein 2 (MeCP2). Although MECP2 is ubiquitously …

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

RZ Chen, S Akbarian, M Tudor, R Jaenisch - Nature genetics, 2001 - nature.com
Mecp2 is an X-linked gene encoding a nuclear protein that binds specifically to methylated
DNA (ref. 1) and functions as a general transcriptional repressor by associating with …

MeCP2 in neurons: closing in on the causes of Rett syndrome

IM Caballero, B Hendrich - Human molecular genetics, 2005 - academic.oup.com
The discovery in 1999 that Rett syndrome (RTT) is caused by mutations in a gene encoding
the methyl-CpG-binding repressor protein MECP2 provided a significant breakthrough in the …

[HTML][HTML] An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders

SA Baker, L Chen, AD Wilkins, P Yu, O Lichtarge… - Cell, 2013 - cell.com
Mutations in the X-linked MECP2 cause Rett syndrome, a devastating neurological disorder
typified by a period of apparently normal development followed by loss of cognitive and …