Article
Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation.
PloS one - 1 Jan 2015
Lefler Sharon, Cohen Malkiel A, Kantor Gal, Cheishvili David, Even Aviel, Birger Anastasya, Turetsky Tikva, Gil Yaniv, Even-Ram Sharona, Aizenman Einat, Bashir Nibal, Maayan Channa, Razin Aharon, Reubinoff Benjamim E, Weil Miguel
Abstract excerpt
A splicing mutation in the IKBKAP gene causes Familial Dysautonomia (FD), affecting the IKAP protein expression levels and proper development and function of the peripheral nervous system (PNS). Here we found new molecular insights for the IKAP role and the impact of the FD mutation in the human PNS lineage by using a novel and unique human embryonic stem cell (hESC) line homozygous to the FD mutation originated...
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