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Invention of an oral medication for cardiac Fabry disease caused by RNA mis-splicing
from Kyoto University Research Information Repository (2025/4/11 9:00:00)
from Kyoto University Research Information Repository (2025/4/11 9:00:00)
タイトル: Invention of an oral medication for cardiac Fabry disease caused by RNA mis-splicing著者: Awaya, Tomonari; Ajiro, Masahiko; Kobayashi, Hiroko; Sawada, Teruo; Gotanda, Kentoku; Noji, Toshiharu; Takemoto, Naohiro; Iida, Kei; Saito, Megumu K.; Niu, Dau-Ming; Hagiwara, Masatoshi抄録: Pathogenic RNA splicing variants have emerged as promising therapeutic targets due to their role in disease while preserving coding sequences. In this study, we developed RECTAS-2.0, a small molecule designed to correct RNA mis-splicing caused by the GLA c.639+919G> A mutation, which leads to the inclusion of a 57-nucleotide poison exon, resulting in later-onset Fabry disease, particularly prevalent in East Asia. RECTAS-2.0 restored normal GLA mRNA splicing and α-galactosidase activity in patient-derived B-lymphoblastoid cell lines and induced pluripotent stem cell-derived cardiomyocytes. Furthermore, oral administration of RECTAS-2.0 effectively corrected splicing in a transgenic mouse mode ...
篠原の戦いについて書いてあるもの・浜松市史一 p477・浜松の歴史 p135・静岡県史 通史編2中世 p289参考資料:浜松市役所. 浜松市史 1. 浜松市役所, 1968.https://ndlsearch.ndl.go.jp/books/R100000001-I34211100157232, 参考資料:大塚克美 [ほか]共著. 浜松の歴史. 東洋書院, 1983.https://ndlsearch.ndl.go.jp/books/R100000002-I000001688193, 参考資料:静岡県史 通史編2中世,
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