Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia

Familial dysautonomia (FD) is caused by an intronic splice mutation in the IKBKAP gene that leads to partial skipping of exon 20 and tissue-specific reduction in I-κ-B kinase complex associated protein/ elongation protein 1 (IKAP/ELP-1) expression. Kinetin (6-furfurylaminopurine) has been shown to i...

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Autori principali: Axelrod, Felicia B., Liebes, Leonard, Gold-von Simson, Gabrielle, Mendoza, Sandra, Mull, James, Leyne, Maire, Norcliffe-Kaufmann, Lucy, Kaufmann, Horacio, Slaugenhaupt, Susan A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3189334/
https://ncbi.nlm.nih.gov/pubmed/21775922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1203/PDR.0b013e31822e1825
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