RBM24 promotes U1 snRNP recognition of the mutated 5′ splice site in the IKBKAP gene of familial dysautonomia

The 5′ splice site mutation (IVS20+6T>C) of the inhibitor of κ light polypeptide gene enhancer in B cells, kinase complex-associated protein (IKBKAP) gene in familial dysautonomia (FD) is at the sixth intronic nucleotide of the 5′ splice site. It is known to weaken U1 snRNP recognition and result...

Descripción completa

Detalles Bibliográficos
Autores principales: Ohe, Kenji, Yoshida, Mayumi, Nakano-Kobayashi, Akiko, Hosokawa, Motoyasu, Sako, Yukiya, Sakuma, Maki, Okuno, Yukiko, Usui, Tomomi, Ninomiya, Kensuke, Nojima, Takayuki, Kataoka, Naoyuki, Hagiwara, Masatoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558909/
https://www.ncbi.nlm.nih.gov/pubmed/28592461
http://dx.doi.org/10.1261/rna.059428.116

Ejemplares similares

Ejemplares similares