IKAP Deficiency in an FD Mouse Model and in Oligodendrocyte Precursor Cells Results in Downregulation of Genes Involved in Oligodendrocyte Differentiation and Myelin Formation

The splice site mutation in the IKBKAP gene coding for IKAP protein leads to the tissue-specific skipping of exon 20, with concomitant reduction in IKAP protein production. This causes the neurodevelopmental, autosomal-recessive genetic disorder - Familial Dysautonomia (FD). The molecular hallmark o...

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Detalhes bibliográficos
Main Authors: Cheishvili, David, Dietrich, Paula, Maayan, Channa, Even, Aviel, Weil, Miguel, Dragatsis, Ioannis, Razin, Aharon
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3997429/
https://ncbi.nlm.nih.gov/pubmed/24760006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0094612
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