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 …

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 …

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 …

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder

A Banerjee, MT Miller, K Li, M Sur, WE Kaufmann - Brain, 2019 - academic.oup.com
… This work has been greatly enhanced by the availability of mouse models of Rett syndrome.
… primary defect in Rett syndrome, raises the key question of lower age limit for major reversal

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

C Urbinati, L Cosentino, EAP Germinario… - International Journal of …, 2021 - mdpi.com
… that CNF1 administration also rescues the neurobehavioural abnormalities in a mouse
model of Alzheimer’s disease, another disorder characterised by cognitive dysfunction [16]. …

Restoring Wnt6 signaling ameliorates behavioral deficits in MeCP2 T158A mouse model of Rett syndrome

WL Hsu, YL Ma, YC Liu, DJC Tai, EHY Lee - Scientific Reports, 2020 - nature.com
… sumo-mutant mice. Here, we examined the role of Wnt6 in MeCP2 T158A mouse model of
RTT. … locomotor impairment and social behavioral deficits in these animals. MeCP2 T158A …