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Updated: May 17, 2026

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
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ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

モーター回路の機能に不可欠なSMN依存のU12スプライシングイベント

Francesco Lotti1, Wendy L Imlach, Luciano Saieva

  • 1Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.

Cell
|October 16, 2012
PubMed
まとめ

脊髄筋縮 (SMA) は,生存運動ニューロン (SMN) のタンパク質欠乏に関連した運動ニューロン疾患です. この研究では,SMN欠乏がU12のスプライシングを妨害し,運動回路の機能に影響を与え,スタシモンをSMAの病理学的要因として特定することを明らかにしています.

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A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

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Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts07:02

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

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