Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

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 pr...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2015
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352824/
https://ncbi.nlm.nih.gov/pubmed/25675486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1415525112
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