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Article
Open AccessSuccessful skip** of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective therapy for BPAN. Here we report a 17-...
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Article
Open AccessAuthor Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
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Article
Open AccessTherapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Approximately half of genetic disease-associated mutations cause aberrant splicing. However, a widely applicable therapeutic strategy to splicing diseases is yet to be developed. Here, we analyze the mechanism...
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Article
Open AccessCDC2-like (CLK) protein kinase inhibition as a novel targeted therapeutic strategy in prostate cancer
Dysregulation of alternative splicing is a feature of cancer, both in aetiology and progression. It occurs because of mutations in splice sites or sites that regulate splicing, or because of the altered expres...