Ontology highlight
ABSTRACT:
SUBMITTER: Yoshida M
PROVIDER: S-EPMC4352824 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Yoshida Mayumi M Kataoka Naoyuki N Miyauchi Kenjyo K Ohe Kenji K Iida Kei K Yoshida Suguru S Nojima Takayuki T Okuno Yukiko Y Onogi Hiroshi H Usui Tomomi T Takeuchi Akihide A Hosoya Takamitsu T Suzuki Tsutomu T Hagiwara Masatoshi M
Proceedings of the National Academy of Sciences of the United States of America 20150209 9
Familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy, is caused by missplicing of exon 20, resulting from an intronic mutation in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein (IKBKAP) gene encoding IKK complex-associated protein (IKAP)/elongator protein 1 (ELP1). A newly established splicing reporter assay allowed us to visualize pathogenic splicing in cells and to screen small chemicals for the ability to correct the a ...[more]