Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia
In: Advances in Experimental Medicine and Biology; 83; 89; 0065-2598; 1074; ~Advances in Experimental Medicine and Biology~83~89~~~0065-2598~~1074~~; (2018)
Online
Elektronische Ressource
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Choroideremia is a progressive genetic eye disorder caused by mutations in the CHM gene that encodes the Rab escort protein-1 (REP-1). One of the many CHM mutations described so far is a deep-intronic variant, c.315-4587T>A, that creates a novel splice acceptor site resulting in the insertion of a 98-bp pseudoexon in the CHM transcript. Antisense oligonucleotides (AONs) are a potential therapeutic tool for correcting splice defects, as they have the properties to bind to the pre-mRNA and redirect the splicing process. Previously, we used AONs to correct aberrant splicing events caused by a recurrent intronic mutation in CEP290 underlying Leber congenital amaurosis. Here, we expand the use of these therapeutic molecules for the c.315-4587T>A deep-intronic mutation in CHM by demonstrating splice correction in patient-derived lymphoblast cells.
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Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia
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Quelle: | Advances in Experimental Medicine and Biology; 83; 89; 0065-2598; 1074; ~Advances in Experimental Medicine and Biology~83~89~~~0065-2598~~1074~~; (2018) |
Veröffentlichung: | 2018 |
Medientyp: | Elektronische Ressource |
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