Rett syndrome and MeCP2

VRB Liyanage, M Rastegar - Neuromolecular medicine, 2014 - Springer
Rett syndrome (RTT) is a severe and progressive neurological disorder, which mainly affects
young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most …

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 …

Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice

SE Sinnett, E Boyle, C Lyons, SJ Gray - Brain, 2021 - academic.oup.com
MECP2 gene transfer has been shown to extend the survival of Mecp2−/y knockout mice
modelling Rett syndrome, an X-linked neurodevelopmental disorder. However, controlling …

HSV1 VP1-2 deubiquitinates STING to block type I interferon expression and promote brain infection

C Bodda, LS Reinert, S Fruhwürth, T Richardo… - Journal of Experimental …, 2020 - rupress.org
Herpes simplex virus (HSV) is the main cause of viral encephalitis in the Western world, and
the type I interferon (IFN) system is important for antiviral control in the brain. Here, we have …

Treating Rett syndrome: from mouse models to human therapies

N Vashi, MJ Justice - Mammalian Genome, 2019 - Springer
Rare diseases are very difficult to study mechanistically and to develop therapies for
because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome …

Loss and gain of MeCP2 cause similar hippocampal circuit dysfunction that is rescued by deep brain stimulation in a Rett syndrome mouse model

H Lu, RT Ash, L He, SE Kee, W Wang, D Yu, S Hao… - Neuron, 2016 - cell.com
Loss-and gain-of-function mutations in methyl-CpG-binding protein 2 (MECP2) underlie two
distinct neurological syndromes with strikingly similar features, but the synaptic and circuit …

Epigenetics and epilepsy

DC Henshall, K Kobow - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
Epigenetic processes in the brain involve the transfer of information arising from short-lived
cellular signals and changes in neuronal activity into lasting effects on gene expression. Key …

Improved MECP2 gene therapy extends the survival of MeCP2-null mice without apparent toxicity after intracisternal delivery

SE Sinnett, RD Hector, KKE Gadalla, C Heindel… - … Therapy Methods & …, 2017 - cell.com
Intravenous administration of adeno-associated virus serotype 9 (AAV9)/hMECP2 has been
shown to extend the lifespan of Mecp2−/y mice, but this delivery route induces liver toxicity in …

MeCP2: the long trip from a chromatin protein to neurological disorders

J Ausió, AM de Paz, M Esteller - Trends in molecular medicine, 2014 - cell.com
Since the discovery of its fundamental involvement in Rett syndrome, methyl CpG binding
protein 2 (MeCP2) has been the focus of an exhaustive biochemical and functional …

Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth

N Lozovaya, R Nardou, R Tyzio, M Chiesa… - Scientific reports, 2019 - nature.com
Genetic mutations of the Methyl-CpG-binding protein-2 (MECP2) gene underlie Rett
syndrome (RTT). Developmental processes are often considered to be irrelevant in RTT …