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Natural cryptic exon removal by pairs of antisense oligonucleotides
专利权人:
Erasmus University Medical Center Rotterdam
发明人:
Wilhelmus Wenceslaus Matthias Pijnappel
申请号:
US16323287
公开号:
US10696967B2
申请日:
2017.08.04
申请国别(地区):
US
年份:
2020
代理人:
摘要:
The invention relates to a method for repairing aberrant splicing in Pompe patients that carry the IVS1 variant, wherein such aberrant splicing is caused by the expression of a natural pseudo exon present in GAA intron 1, comprising blocking of either the natural cryptic 3′; splice site or the natural cryptic 5′; splice site of said natural pseudo exon with an antisense oligomeric compound (AON). Further, the invention comprises an antisense oligomeric compound targeting SEQ ID NO: 1 or SEQ ID NO: 180, preferably selected from the sequences of SEQ ID NO: 91-179, sequences that are complementary to said sequences or sequences that have an identity of 80% with said sequences or the complementary sequences and a second AON from the sequences of SEQ ID NO: 346-508, sequences that are complementary to said sequences or sequences that have an identity of 80% with said sequences or the complementary sequences.
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