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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Bibliografiska uppgifter
I publikationen:PLoS One
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2015
Ämnen:
Research Article
Länkar: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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