Understanding fragile X syndrome: insights from animal models.

  title={Understanding fragile X syndrome: insights from animal models.},
  author={Cathy E. Bakker and Ben A. Oostra},
  journal={Cytogenetic and genome research},
  volume={100 1-4},
The fragile X mental retardation syndrome is caused by large methylated expansions of a CGG repeat in the FMR1 gene leading 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. To study the physiological function of the FMR1 protein, mouse and Drosophila models have been developed. The loss-of-function mouse model shows slightly enlarged testes, a subtle… CONTINUE READING


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