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 …
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 …
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 …
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-function mutations in methyl-CpG-binding protein 2 (MECP2) underlie two distinct neurological syndromes with strikingly similar features, but the synaptic and circuit …
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 …
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 …
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 …
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 …