Rett Syndrome

Rett syndrome is a severe neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). Discover the latest research on Rett syndrome here.

October 24, 2021

Collapse of complexity of brain and body activity due to excessive inhibition and MeCP2 disruption.

Proceedings of the National Academy of Sciences of the United States of America
Jingwen LiWoodrow L Shew
October 13, 2021
Open Access

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

International Journal of Molecular Sciences
Clara XiolJudith Armstrong
October 10, 2021
Open Access

Unidirectional recruitment relations between proteins can be determined by a CRISPR/dCas9 recruitment assay

BioRxiv : the Preprint Server for Biology
I. LaviMeir Shamay
October 8, 2021

Mitochondrial DNA Copy Number in Rett Syndrome Caused by MECP2 Variants.

The Journal of Pediatrics
Siwen LiuYinan Ma
October 5, 2021
Case Report

Anesthetic Management of a Rett Syndrome Patient at High Risk for Respiratory Complications.

Anesthesia Progress
Nobuhito KamekuraToshiaki Fujisawa
October 4, 2021
Open Access

The Chloride Homeostasis of CA3 Hippocampal Neurons Is Not Altered in Fully Symptomatic Mepc2-null Mice.

Frontiers in Cellular Neuroscience
Yasmine BelaïdouniJean-Luc Gaiarsa
October 2, 2021

Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models.

Nature Communications
Yan JiangJingyi Hui
September 29, 2021

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

Brain Research
Nicolas LebrunThierry Bienvenu
September 29, 2021
Open Access

WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome.

International Journal of Molecular Sciences
Florencia D HaaseWendy A Gold
September 28, 2021

The Potential Role of AMPA Receptor Trafficking in Autism and Other Neurodevelopmental Conditions.

Robert F Niescier, Yu-Chih Lin
September 27, 2021
Open Access

Do Fragile X Syndrome and Other Intellectual Disorders Converge at Aberrant Pre-mRNA Splicing?

Frontiers in Psychiatry
Sneha Shah, Joel D Richter
September 25, 2021
Open Access

Region-specific KCC2 rescue by rhIGF-1 and oxytocin in a mouse model of Rett syndrome

BioRxiv : the Preprint Server for Biology
V. GigliucciAbhishek Banerjee
September 22, 2021

CDKL5 deficiency augments inhibitory input into the dentate gyrus that can be reversed by deep brain stimulation.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
Shuang HaoJianrong Tang
September 20, 2021
Comment / Editorial
Open Access

Editorial: Epigenetic Mechanisms and Their Involvement in Rare Diseases.

Frontiers in Genetics
Mojgan Rastegar, Dag H Yasui
September 14, 2021
Open Access

Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models.

Frontiers in Neuroscience
Florencia D HaaseWendy A Gold
September 10, 2021
Open Access

MECP2-Related Disorders in Males.

International Journal of Molecular Sciences
Ainhoa Pascual-AlonsoJudith Armstrong
September 10, 2021
Open Access

Anti-Semaphorin 4D Rescues Motor, Cognitive, and Respiratory Phenotypes in a Rett Syndrome Mouse Model.

International Journal of Molecular Sciences
Yilin MaoWendy A Gold

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