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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Publié dans:PLoS One
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2015
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4593545/
https://ncbi.nlm.nih.gov/pubmed/26437462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0138807
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