The role of a clinically important mutation in the fold and RNA-binding properties of KH motifs.

@article{Ramos2003TheRO,
  title={The role of a clinically important mutation in the fold and RNA-binding properties of KH motifs.},
  author={Andres Ramos and David G. Hollingworth and Annalisa Pastore},
  journal={RNA},
  year={2003},
  volume={9 3},
  pages={293-8}
}
We have investigated the role in the fold and RNA-binding properties of the KH modules of a hydrophobic to asparagine mutation of clinical importance in the fragile X syndrome. The mutation involves a well-conserved hydrophobic residue close to the N terminus of the second helix of the KH fold (alpha2(3) position). The effect of the mutation has been long debated: Although the mutant has been shown to disrupt the three-dimensional fold of several KH domains, the residue seems also to be… CONTINUE READING

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