Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells

@inproceedings{Keren2010PhosphatidylserineII,
  title={Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells},
  author={Hadas Keren and Maya Donyo and David Zeevi and Channa Maayan and Tal Pupko and Gil Ast},
  booktitle={PloS one},
  year={2010}
}
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from abnormal development and progressive degeneration of the sensory and autonomic nervous system. The mutation observed in almost all FD patients is a point mutation at position 6 of intron 20 of the IKBKAP gene; this gene encodes the IκB kinase complex-associated protein (IKAP). The mutation results in a tissue-specific splicing defect: Exon 20 is skipped, leading to reduced IKAP protein expression. Here… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 21 extracted citations

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.

Proceedings of the National Academy of Sciences of the United States of America • 2015

References

Publications referenced by this paper.
Showing 1-10 of 59 references

Purification and characterization of the human elongator complex.

The Journal of biological chemistry • 2002
View 7 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…