Glutamate is the primary excitatory neurotransmitter in the central nervous system (CNS)
which initiates rapid signal transmission in the synapse before its re-uptake into the …

Yin Yang 1 (YY1), a dual function transcription factor, is known to regulate transcriptional
activation and repression of many genes associated with multiple cellular processes …

The per-generation mutation rate in humans is high. De novo mutations may compensate for
allele loss due to severely reduced fecundity in common neurodevelopmental and …

MeCP2 is a reader of the DNA methylome that occupies a large proportion of the genome
due to its high abundance and the frequency of its target sites. It has been the subject of …

Methyl-CpG binding protein 2 (MeCP2) was first identified in 1992 as a protein that binds
specifically to methylated DNA. Mutations in the MECP2 gene were later found to be the …

Clinical manifestations typical of mitochondrial diseases are often present in various genetic
syndromes associated with intellectual disability, a condition leading to deficit in cognitive …

Adenine nucleotide translocase (ANT), a mitochondrial protein that facilitates the exchange
of ADP and ATP across the mitochondrial inner membrane, plays an essential role in …

First described over 50 years ago, Rett syndrome (RTT) is a neurodevelopmental disorder
caused primarily by mutations of the X-linked MECP2 gene. RTT affects predominantly …

In aerobic eukaryotic cells, the high energy metabolite ATP is generated mainly within the
mitochondria following the process of oxidative phosphorylation. The mitochondrial ATP is …

Mitochondria, the organelles classically seen as the powerhouse of the cell, are increasingly
associated with a wide variety of neurodevelopmental disorders. Although individually rare …