Rett syndrome is a neurodevelopmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene MECP2. However, mutations in MECP2 also have been ...
Rett syndrome is a developmental disorder that is the leading cause of severe intellectual disability in females. MECP2 mutations are the major genetic mutation associated with Rett syndrome.
Alteration in the expression of methyl-CpG-binding protein 2 (MeCP2) has been linked to a number of neurological disorders, including Rett syndrome (RTT). A recent modifier screen in flies has ...
Rett syndrome, a severe delayed-onset autism spectrum disorder, affects at least 1 in every 10,000 females. The syndrome is caused by a mutation of the MECP2 gene, which is located on the X ...
“We artificially triggered the onset of Rett syndrome symptoms in mice to precisely map the sequence of events that occurs when MECP2 is malfunctioning. Our study uncovered a core set of genes ...
Rett syndrome is a devastating neurological disorder caused mainly by mutations in the MECP2 gene found on the X chromosome. The disease causes deficits in brain function that lead to behavioural ...
AX-2402 is being developed for individuals with Rett syndrome who have the R270X mutation in MECP2 gene, and is based on ProQR’s proprietary Axiomer RNA editing platform. Axiomer can target many ...
3 Rett syndrome is typically caused by a genetic mutation on the MECP2 gene. 5 In preclinical studies, deficiency in MeCP2 function is thought to lead to impairment in synaptic communication ...