Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage

BE Collins, JL Neul - Neuropsychiatric disease and treatment, 2022 - Taylor & Francis
… to what pediatric neurologists now recognize as Rett syndrome. Citation3 … in mice showed
that transgenic expression of MeCP2_e2 was able to rescue of phenotypes of Mecp2 null mice

Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies

AJ Sandweiss, VL Brandt, HY Zoghbi - The Lancet Neurology, 2020 - thelancet.com
… A mouse MECP2-null mutation causes neurological symptoms that mimic Rett syndrome. …
There are several other genes whose mutation causes features that overlap with Rett syndrome

Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model

SAD Vermudez, RG Gogliotti, B Arthur… - Genes, Brain and …, 2022 - Wiley Online Library
symptom onset delivery of viral MeCP2 did not affect motor coordination in Mecp2 Null/+
mice… with our results showing that, in Mecp2 Null/+ mice, addition of the MECP2 transgene …

[HTML][HTML] MeCP2 Mutation and Rett Syndrome

Y Sadeghian, Ö Çağlar, E Özyılmaz… - Journal of Experimental …, 2021 - jebms.org
… important for brain function and is one of the most common causes in RTT (Rett syndrome) …
Rett syndrome symptoms can be regulated in mice, however there is no clear evidence on …

… with the bacterial toxin CNF1 selectively rescues cognitive and brain mitochondrial deficits in a female mouse model of Rett syndrome carrying a MeCP2-null mutation

C Urbinati, L Cosentino, EAP Germinario… - International Journal of …, 2021 - mdpi.com
Rett syndrome (RTT) is a rare neurological disorder caused by mutations in the X-linked
MECP2 gene and a major cause of … behavioural phenotype and brain mitochondria dysfunction …

MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders

A Frasca, E Spiombi, M Palmieri, E Albizzati… - EMBO Molecular …, 2020 - embopress.org
… the brain of transgenic mice modeling the disease and in Rett … Since Rett syndrome is a
neurological disorder affecting both … in Mecp2 null cells and that are relevant for Rett syndrome. …

Rett syndrome and MECP2-related disorders

JL Neul, Q Chang - Neurodevelopmental Disorders, 2020 - Elsevier
… expression in symptomatic RTT mice reverses clinical … -dependent phase of brain
development and that MeCP2 … may lead to deficits in the experience-dependent phase of brain

[HTML][HTML] The molecular functions of MeCP2 in Rett syndrome pathology

O Sharifi, DH Yasui - Frontiers in Genetics, 2021 - frontiersin.org
… Despite this fact, the function of MeCP2 has been predominately studied in the nervous
system of Mecp2 null male mice as ablation of MeCP2 in all brain cells accounts for 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 neurological disease in females … The disease mainly affects brain
development and the symptoms progress as … exhibited by Mecp2-null mice (Mecp2 −/Y ) [49]. …

Sex differences in Mecp2-mutant Rett syndrome model mice and the impact of cellular mosaicism in phenotype development

MC Ribeiro, JL MacDonald - Brain research, 2020 - Elsevier
… Our ability to distinguish differences between male Mecp2-null and female Mecp2 Het
mice is further compounded by phenotypic variability caused by skewed X-inactivation. X-…