Article
Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.
Pediatric research - 1 Mar 2009
Gold-von Simson Gabrielle, Goldberg Judith D, Rolnitzky Linda M, Mull James, Leyne Maire, Voustianiouk Andrei, Slaugenhaupt Susan A, Axelrod Felicia B
Abstract excerpt
Familial dysautonomia (FD) is caused by an intronic splice mutation in the IkappaB kinase-associated protein gene (IKBKAP) that leads to partial skipping of exon 20 and tissue-specific reduction of IkappaB kinase-associated protein/elongator protein 1 (IKAP/ELP-1 protein). Kinetin increases IKBKAP mRNA and protein expression in FD cell lines. To determine whether oral kinetin alters IKBKAP splicing in vivo, we...
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