Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice

Abstract excerpt

Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that results in defective splicing of its pre-mRNA. The mutation weakens the 5' splice site of exon 20, causing this exon to be skipped, thereby introducing a premature termination codon. Though detailed FD pathogenesis mechanisms are not yet clear, correcting the splicing defect in the relevant...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Neurogenetic and Muscular Disorders Research
• Share to RNA regulation and disease
• Share to RNA Research and Splicing