Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …

Ongoing studies in many species seek to understand the origins, architecture and
consequences of phenotypic variation under normal and dysfunctional conditions, with the …

We previously showed that NUDT21-spanning copy-number variations (CNVs) are
associated with intellectual disability (Gennarino et al., 2015). However, the patients' CNVs …

Shank3, a postsynaptic scaffolding protein involved in regulating excitatory synapse
assembly and function, has been implicated in several brain disorders, including autism …

Rett syndrome (RTT) is a severe neurodevelopmental disorder that is associated in most
cases with mutations in the transcriptional regulator MECP2. At present, there are no …

In this narrative review, we summarize recent pieces of evidence of the role of microbiota
alterations in Rett syndrome (RTT). Neurological problems are prominent features of the …

Background: Genetic testing for neurodevelopmental disorders is now considered the
standard of care for unexplained epilepsy as well as autism spectrum disorders, intellectual …

Genetically modified mice are engineered as models for human diseases. These mouse
models include inbred strains, mutants, gene knockouts, gene knockins, and …

The endoplasmic reticulum (ER) is the largest tubular reticular organelle spanning the cell.
As the main site of protein synthesis, Ca2+ homeostasis maintenance and lipid metabolism …

New neurons continuously arise from neural progenitor cells in the dentate gyrus of the adult
hippocampus to support ongoing learning and memory formation. To generate functional …