Fragile X syndrome: from gene discovery to therapy

Inge Heulens
2011 Frontiers in Bioscience  
A dynamic mutation in the fragile X mental retardation 1 gene, FMR1, was found to cause fragile X syndrome almost 20 years ago. Since, a wealth of information regarding the function of the gene has been gathered. It plays a role in RNA transport and stability and RNA-binding influences the function of a multitude of other genes. In this review, we focus on the recent knowledge of molecular and biochemical pathways shown to be relevant in the fragile X syndrome and how these insights have led to
more » ... nsights have led to a first series of clinical trials in fragile X patients. 201. 202.
doi:10.2741/3785 pmid:21196228 fatcat:rvanao6x4jdjtifgtnuql6o44m