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 …

The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

Parvalbumin-positive interneurons regulate cortical sensory plasticity in adulthood and development through shared mechanisms

DD Rupert, SD Shea - Frontiers in Neural Circuits, 2022 - frontiersin.org
Parvalbumin-positive neurons are the largest class of GABAergic, inhibitory neurons in the
central nervous system. In the cortex, these fast-spiking cells provide feedforward and …

Pattern decorrelation in the mouse medial prefrontal cortex enables social preference and requires MeCP2

P Xu, Y Yue, J Su, X Sun, H Du, Z Liu, R Simha… - Nature …, 2022 - nature.com
Sociability is crucial for survival, whereas social avoidance is a feature of disorders such as
Rett syndrome, which is caused by loss-of-function mutations in MECP2. To understand how …

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

NP Achilly, W Wang, HY Zoghbi - Nature, 2021 - nature.com
Mutations in the X-linked gene MECP2 cause Rett syndrome, a progressive neurological
disorder in which children develop normally for the first one or two years of life before …

GABA system modifications during periods of hormonal flux across the female lifespan

RA Gilfarb, B Leuner - Frontiers in Behavioral Neuroscience, 2022 - frontiersin.org
The female lifespan is marked by periods of dramatic hormonal fluctuation. Changes in the
ovarian hormones estradiol and progesterone, in addition to the progesterone metabolite …

The pathophysiology of rett syndrome with a focus on breathing dysfunctions

JM Ramirez, M Karlen-Amarante, JDJ Wang… - …, 2020 - journals.physiology.org
Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by
serious pathophysiology, including breathing and feeding dysfunctions, and alteration of …

MECP2 and the biology of MECP2 duplication syndrome

SR D'Mello III - Journal of Neurochemistry, 2021 - Wiley Online Library
Abstract MECP2 duplication syndrome (MDS), a rare X‐linked genomic disorder affecting
predominantly males, is caused by duplication of the chromosomal region containing the …

Excitation and inhibition imbalance in Rett syndrome

W Li - Frontiers in Neuroscience, 2022 - frontiersin.org
A loss of the excitation/inhibition (E/I) balance in the neural circuit has emerged as a
common neuropathological feature in many neurodevelopmental disorders. Rett syndrome …

Oxytocin receptors in the midbrain dorsal raphe are essential for postpartum maternal social and affective behaviors

ZA Grieb, EG Ford, M Yagan, BYB Lau… - …, 2021 - Elsevier
Oxytocin receptors (OTRs) in the midbrain dorsal raphe (DR; the source of most forebrain
serotonin) have recently been identified as a potential pharmacological target for treating …