Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice
Abstract
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 tissue(s), thus restoring normal...
Paper Details
Title
Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice
Published Date
Apr 17, 2018
Journal
Volume
46
Issue
10
Pages
4833 - 4844
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