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
The X-linked gene encoding MECP2 is involved in two severe and complex
neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett …

Rett syndrome: insights into genetic, molecular and circuit mechanisms

JPK Ip, N Mellios, M Sur - Nature Reviews Neuroscience, 2018 - nature.com
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene
encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT …

Identification of neural oscillations and epileptiform changes in human brain organoids

RA Samarasinghe, OA Miranda, JE Buth… - Nature …, 2021 - nature.com
Brain organoids represent a powerful tool for studying human neurological diseases,
particularly those that affect brain growth and structure. However, many diseases manifest …

Exosomes regulate neurogenesis and circuit assembly

P Sharma, P Mesci, C Carromeu… - Proceedings of the …, 2019 - National Acad Sciences
Exosomes are thought to be released by all cells in the body and to be involved in
intercellular communication. We tested whether neural exosomes can regulate the …

Interaction of methyl-CpG-binding protein 2 (MeCP2) with distinct enhancers in the mouse cortex

GP Mishra, EX Sun, T Chin, M Eckhardt… - Nature …, 2024 - nature.com
Mutations in methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome. MeCP2 is
thought to regulate gene transcription by binding to methylated DNA broadly across the …

Zebrafish as an animal model for drug discovery in Parkinson's disease and other movement disorders: a systematic review

RL Vaz, TF Outeiro, JJ Ferreira - Frontiers in neurology, 2018 - frontiersin.org
Movement disorders can be primarily divided into hypokinetic and hyperkinetic. Most of the
hypokinetic syndromes are associated with the neurodegenerative disorder Parkinson's …

An RNA editing strategy rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates

D Yang, X Wu, Y Yao, M Duan, X Wang, G Li… - Nature …, 2024 - nature.com
Duplication of methyl-CpG-binding protein 2 (MECP2) gene causes MECP2 duplication
syndrome (MDS). To normalize the duplicated MECP2 in MDS, we developed a high-fidelity …

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 …

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
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20
years since the first report on the link between Rett syndrome and MECP2 mutations, it is …

Functioning, participation, and quality of life in children with intellectual disability: an observational study

K Williams, P Jacoby, A Whitehouse… - … Medicine & Child …, 2021 - Wiley Online Library
Aims To investigate associations between functioning, community participation, and quality
of life (QoL) and identify whether participation mediates the effects of functioning on QoL …