Article
EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia.
Biochemical and biophysical research communications - 17 Oct 2003
Anderson Sylvia L, Qiu Jinsong, Rubin Berish Y
Abstract excerpt
Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disorder. The most prevalent causative mutation is a T-->C transition in a donor splice site of the IKBKAP transcript, resulting in aberrant splicing and a truncated protein. The mutation's position and leaky nature suggested that its impact might be moderated by altering the level of splice-regulating proteins. The reported ability of...
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