Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

HY Zoghbi, MF Bear - Cold Spring Harbor perspectives …, 2012 - cshperspectives.cshlp.org
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …

Microglia: actively surveying and shaping neuronal circuit structure and function

H Wake, AJ Moorhouse, A Miyamoto… - Trends in neurosciences, 2013 - cell.com
The traditional role of microglia has been in brain infection and disease, phagocytosing
debris and secreting factors to modify disease progression. Recent evidence extends their …

The space of disse: the liver hub in health and disease

C Sanz-García, A Fernández-Iglesias, J Gracia-Sancho… - Livers, 2021 - mdpi.com
Since it was first described by the German anatomist and histologist, Joseph Hugo Vincenz
Disse, the structure and functions of the space of Disse, a thin perisinusoidal area between …

MeCP2 deficiency in neuroglia: new progress in the pathogenesis of Rett syndrome

XR Jin, XS Chen, L Xiao - Frontiers in molecular neuroscience, 2017 - frontiersin.org
Rett syndrome (RTT) is an X-linked neurodevelopmental disease predominantly caused by
mutations of the methyl-CpG-binding protein 2 (MeCP2) gene. Generally, RTT has been …

Transcriptome level analysis in Rett syndrome using human samples from different tissues

S Shovlin, D Tropea - Orphanet journal of rare diseases, 2018 - Springer
The mechanisms of neuro-genetic disorders have been mostly investigated in the brain,
however, for some pathologies, transcriptomic analysis in multiple tissues represent an …

Glial dysfunction in MeCP2 deficiency models: implications for Rett syndrome

U Kahanovitch, KC Patterson, R Hernandez… - International Journal of …, 2019 - mdpi.com
Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting
females, resulting in a range of symptoms including autistic features, intellectual impairment …

Oxidative stress in Rett syndrome: natural history, genotype, and variants

S Leoncini, C De Felice, C Signorini, A Pecorelli… - Redox …, 2011 - Taylor & Francis
Objectives Rett syndrome (RTT) is an X-linked autism spectrum disorder caused by
mutations in the MeCP2 gene in the great majority of cases. Evidence suggests a potential …

Spinal astrocytic MeCP2 regulates Kir4. 1 for the maintenance of chronic hyperalgesia in neuropathic pain

M Ou, Y Chen, J Liu, D Zhang, Y Yang, J Shen… - Progress in …, 2023 - Elsevier
Astrocyte activation in the spinal dorsal horn may play an important role in the development
of chronic neuropathic pain, but the mechanisms involved in astrocyte activation and their …

MeCP2 deficiency leads to loss of glial Kir4. 1

U Kahanovitch, VA Cuddapah, NL Pacheco, LM Holt… - Eneuro, 2018 - eneuro.org
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder usually caused by
mutations in methyl-CpG-binding protein 2 (MeCP2). RTT is typified by apparently normal …

[HTML][HTML] Mild overexpression of Mecp2 in mice causes a higher susceptibility toward seizures

C Bodda, M Tantra, R Mollajew… - The American journal of …, 2013 - Elsevier
An intriguing finding about the gene encoding methyl-CpG binding protein 2 (MeCP2) is that
the loss-of-function mutations cause Rett syndrome and duplication (gain-of-function) of …