Publications by authors named "Nell Rebowe"

Article Synopsis
  • Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and autism, characterized by synaptic development issues, with mouse models showing symptoms like anxiety and hyperactivity.
  • The drug ANAVEX2-73 (blarcamesine), which acts as a sigma-1 receptor agonist, has shown promise in improving cognitive and behavioral issues associated with FXS in mouse studies by normalizing hyperactivity and anxiety-like behaviors.
  • The findings suggest that blarcamesine could be a viable treatment option for FXS and potentially other neurodevelopmental disorders due to its effects on synaptic function and receptor activity.
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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 effective treatments for the disorder. Despite recent advances in RTT genetics and neurobiology, most drug development programs have focused on compounds targeting the IGF-1 pathway and no pivotal trial has been completed as yet.

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