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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Detalles Bibliográficos
Autores principales: Cheishvili, David, Dietrich, Paula, Maayan, Channa, Even, Aviel, Weil, Miguel, Dragatsis, Ioannis, Razin, Aharon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3997429/
https://www.ncbi.nlm.nih.gov/pubmed/24760006
http://dx.doi.org/10.1371/journal.pone.0094612

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