4 Result(s)

Article

Successful 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-...

Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa… in Scientific Reports (2024)

Article

Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

Masahiko Ajiro, Tomonari Awaya, Young ** Kim, Kei Iida… in Nature Communications (2021)

Article

Therapeutic 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...

Masahiko Ajiro, Tomonari Awaya, Young ** Kim, Kei Iida… in Nature Communications (2021)

Article

CDC2-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...

Simon Uzor, Sean R. Porazinski, Ling Li, Bethany Clark… in Scientific Reports (2021)