Article
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Nucleic acids research - 6 Sept 2018
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
Abstract excerpt
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 full-length IKAP protein. We identified a binding site for the splicing regulatory protein hnRNP A1 downstream of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.