Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

Familial dysautonomia (FD) is a severe genetic disorder causing sensory and autonomic dysfunction. It is predominantly caused by a c.2204+6T>C mutation in the IKBKAP gene. This mutation decreases the 5′ splice site strength of IKBKAP exon 20 leading to exon 20 skipping and decreased amounts of fu...

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Detalles Bibliográficos
Autores principales: Bruun, Gitte H, Bang, Jeanne M V, Christensen, Lise L, Brøner, Sabrina, Petersen, Ulrika S S, Guerra, Barbara, Grønning, Alexander G B, Doktor, Thomas K, Andresen, Brage S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
RNA and RNA-protein complexes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125618/
https://www.ncbi.nlm.nih.gov/pubmed/29762696
http://dx.doi.org/10.1093/nar/gky395

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