Article
IKAP deficiency in an FD mouse model and in oligodendrocyte precursor cells results in downregulation of genes involved in oligodendrocyte differentiation and myelin formation.
PloS one - 1 Jan 2014
Cheishvili David, Dietrich Paula, Maayan Channa, Even Aviel, Weil Miguel, Dragatsis Ioannis, Razin Aharon
Abstract excerpt
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 of FD is the severe reduction of IKAP protein in the nervous system that is believed to be the main reason for the...
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