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.

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.

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...

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Bibliographic Details
Main Authors: Sharon Lefler, Malkiel A Cohen, Gal Kantor, David Cheishvili, Aviel Even, Anastasya Birger, Tikva Turetsky, Yaniv Gil, Sharona Even-Ram, Einat Aizenman, Nibal Bashir, Channa Maayan, Aharon Razin, Benjamim E Reubinoff, Miguel Weil
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4593545?pdf=render

Internet

http://europepmc.org/articles/PMC4593545?pdf=render

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