Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells

  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},
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


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