関連する実験動画

Updated: Jul 23, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

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個別化されたスプライススイッチングオリゴヌクレオチド療法のための枠組み

Jinkuk Kim1,2,3,4, Sijae Woo5, Claudio M de Gusmao6,7

  • 1Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.

Nature
|July 12, 2023
PubMed
まとめ

全ゲノム配列解析により,アタキシア・テランジエクタジアのような遺伝疾患を持つ個体が,スプライス・スイッチング・アンチセンス・オリゴヌクレオチド (ASO) に敏感であることが判明した. これらのASOは患者の細胞のスプライシング欠陥をうまく修正し,臨床試験で安全性を示しました.

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