Article
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
Human mutation - 1 Jul 2017
Lualdi Susanna, Del Zotto Genny, Zegarra-Moran Olga, Pedemonte Nicoletta, Corsolini Fabio, Bruschi Maurizio, Tomati Valeria, Amico Giulia, Candiano Giovanni, Dardis Andrea, Cooper David N, Filocamo Mirella
Abstract excerpt
The 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" iduronate 2-sulfatase (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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.