[HTML][HTML] Treating Rett syndrome: from mouse models to human therapies

N Vashi, MJ Justice - Mammalian Genome, 2019 - Springer
… rare neuro-metabolic disorder Rett syndrome (RTT) is discussed as a prototype for precision
medicine, demonstrating how mouse modelsreversal may be possible in human patients. …

Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome

A Tiberi, G Borgonovo, G Testa, P Pacifico, A Jacob… - Brain, 2024 - academic.oup.com
… to female MeCP2+/− mice. This mouse model fully recapitulates symptoms of Rett syndrome
and is widely used in the literature to study the mechanisms underlying this disease.In …

Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome

NP Achilly, W Wang, HY Zoghbi - Nature, 2021 - nature.com
… cause Rett syndrome, a progressive neurological disorder in … At present there are no effective
treatments for Rett syndrome, … Here we find, using a mouse model of Rett syndrome, that …

[HTML][HTML] Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome

K Ure, H Lu, W Wang, A Ito-Ishida, Z Wu, L He… - elife, 2016 - elifesciences.org
… study Rett syndrome use mice as a model of the disorder. In particular, male mice with the
mouse … inhibitory activity alone can reverse the majority of symptoms of a mouse model of RTT. …

Restoration of motor learning in a mouse model of Rett syndrome following long-term treatment with a novel small-molecule activator of TrkB

I Adams, T Yang, FM Longo… - Disease Models & …, 2020 - journals.biologists.com
… expression and/or TrkB activation in Mecp2-deficient mouse models of RTT can ameliorate
or reverse abnormal neurological phenotypes that mimic human RTT symptoms. The present …

Activation of the medial prefrontal cortex reverses cognitive and respiratory symptoms in a mouse model of Rett syndrome

CJ Howell, MP Sceniak, M Lang, W Krakowiecki… - Eneuro, 2017 - eneuro.org
Reversal of respiratory symptoms following mPFC activation was associated with … Thus,
despite reduced levels of MeCP2 and severe neurological deficits, mPFC circuits in Het mice are …

[HTML][HTML] Choline rescues behavioural deficits in a mouse model of Rett syndrome by modulating neuronal plasticity

EWM Chin, WM Lim, D Ma, FJ Rosales… - Molecular neurobiology, 2019 - Springer
… Promisingly, supplementation of choline, a common dietary micronutrient, to various mouse
models of RTT markedly improved their motoric function [18, 19]. But, the exact mechanism …

Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome

JK Merritt, BE Collins, KR Erickson… - Human Molecular …, 2020 - academic.oup.com
Rett syndrome (RTT) is a neurodevelopmental disorder … , we created and characterized a
mouse model with the common p.… Mecp2 R294X mice exhibit phenotypic abnormalities similar …

HDAC inhibitor ameliorates behavioral deficits in Mecp2308/y mouse model of Rett syndrome

N Lebrun, C Delépine, M Selloum, H Meziane… - Brain Research, 2021 - Elsevier
… Tubastatin A treatment on reversing early RTT-related abnormalities was therefore investigated
in a Mecp2 308/y mouse model. In this preclinical study, we identified in mice a safe and …

Rett syndrome: a neurological disorder with metabolic components

SM Kyle, N Vashi, MJ Justice - Open biology, 2018 - royalsocietypublishing.org
mouse alleles are the primary models for Rett syndrome (table 3). The Bird laboratory developed
a Mecp2 mutant mouse model … of MeCP2 expression reversed symptoms: neurological