Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

Abstract excerpt

The fragile X mental retardation syndrome is caused by large methylated expansions of a CGG repeat in the FMR1 gene that lead to the loss of expression of FMRP, an RNA-binding protein. FMRP is proposed to act as a regulator of mRNA transport or translation that plays a role in synaptic maturation and function. The recent observations of unexpected phenotypes in some carriers of fragile X premutations suggest a...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Brain
• Share to Fragile X Mental Retardation Protein