Article
Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia.
Biochemical and biophysical research communications - 20 Jun 2003
Anderson Sylvia L, Qiu Jinsong, Rubin Berish Y
Abstract excerpt
Familial dysautonomia (FD), a neurodegenerative genetic disorder primarily affecting individuals of Ashkenazi Jewish descent, is caused by mutations in the IKBKAP gene which encodes the IkappaB kinase complex-associated protein (IKAP). The more common or major mutation causes aberrant splicing, resulting in a truncated form of IKAP. Tissues from individuals homozygous for the major mutation contain both mutant...
Topics
- Base Sequence
- Carrier Proteins
- Cell Line
- DNA Primers
- Dysautonomia, Familial
- Exons
- Gene Expression
- Humans
- Kinetics
- Mutation
- RNA Splicing
- RNA, Messenger