Article
Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.
Proceedings of the National Academy of Sciences of the United States of America - 3 Mar 2015
Yoshida Mayumi, Kataoka Naoyuki, Miyauchi Kenjyo, Ohe Kenji, Iida Kei, Yoshida Suguru, Nojima Takayuki, Okuno Yukiko, Onogi Hiroshi, Usui Tomomi, Takeuchi Akihide, Hosoya Takamitsu, Suzuki Tsutomu, Hagiwara Masatoshi
Abstract excerpt
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...
Topics
- Carrier Proteins
- Dysautonomia, Familial
- HeLa Cells
- Heterocyclic Compounds, 3-Ring
- Humans
- Introns
- Mutation
- RNA Splicing
- RNA, Transfer
- Transcriptional Elongation Factors