IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.

@article{Cheishvili2011IKAPElp1II,
  title={IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.},
  author={David Cheishvili and Channa Maayan and Rachel Cohen-Kupiec and Sharon Lefler and Miguel Weil and Gil Ast and Aharon Razin},
  journal={Human molecular genetics},
  year={2011},
  volume={20 8},
  pages={1585-94}
}
Deficiency in the IKAP/Elp1 protein leads to the recessive sensory autosomal congenital neuropathy which is called familial dysautonomia (FD). This protein was originally identified as a role player in transcriptional elongation being a subunit of the RNAPII transcriptional Elongator multi-protein complex. Subsequently, IKAP/Elp1 was shown to play various functions in the cytoplasm. Here, we describe experiments performed with IKAP/Elp1 downregulated cell lines and FD-derived cells and tissues… CONTINUE READING
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