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

@article{Bardoni2002AdvancesIU,
  title={Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.},
  author={Barbara Bardoni and Jean-Louis Mandel},
  journal={Current opinion in genetics & development},
  year={2002},
  volume={12 3},
  pages={284-93}
}
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 pathological role, in these individuals, of an abnormal FMR1 mRNA. FMRP was recently… CONTINUE READING

From This Paper

Topics from this paper.
57 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 57 extracted citations

Similar Papers

Loading similar papers…