In vitrorecapitulation of the site-specific editing (to wild-type) of mutantIDSmRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs

Abstract

Mirella 2017. In vitro recapitulation of the site-specific editing (to wildtype) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs. Human Mutation 38 (7) ABSTRACTThe transfer of genomic information into the primary RNA sequence can be altered by RNA editing.We have previously shown that genomic variants can be RNA-edited to wild-type. The presence of distinct 'edited' IDS mRNA-transcripts ex vivo evidenced the correction of a nonsense and frameshift variant, respectively, in three unrelated Hunter syndrome patients. This phenomenon was confirmed