It is caused by mutations in the MECP2 gene, which produces a protein ... than half a million mutations across 522 human ...

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 ...

"In the current study, our goal was to better understand the molecular changes that occur upon loss of MeCP2 function. Previous research has attempted to do this by studying the condition in ...

MECP2 mutations are the major genetic mutation associated with Rett syndrome. Diagnosis is made via observable features, which include regression of developmental features, including language and ...

Second, we found that the AXH domain in Ataxin-1 is a key mediator of the neuropathology ... is caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). Located on the X ...