Article
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
Human molecular genetics - 15 Mar 2016
Morini Elisabetta, Dietrich Paula, Salani Monica, Downs Heather M, Wojtkiewicz Gregory R, Alli Shanta, Brenner Anthony, Nilbratt Mats, LeClair John W, Oaklander Anne Louise, Slaugenhaupt Susan A, Dragatsis Ioannis
Abstract excerpt
Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease that affects the development and survival of sensory and autonomic neurons. FD is caused by an mRNA splicing mutation in intron 20 of the IKBKAP gene that results in a tissue-specific skipping of exon 20 and a corresponding reduction of the inhibitor of kappaB kinase complex-associated protein (IKAP), also known as Elongator complex...
Topics
- Alternative Splicing
- Animals
- Autonomic Pathways
- Carrier Proteins
- Disease Models, Animal
- Dysautonomia, Familial
- Exons
- Humans
- Intracellular Signaling Peptides and Proteins
- Introns