RNA dysmetabolism and repeat-associated non-AUG translation in frontotemporal lobar degeneration/amyotrophic lateral sclerosis due to C9orf72 hexanucleotide repeat expansion

• 資料種別: 記事
• タイトル: RNA dysmetabolism and repeat-associated non-AUG translation in frontotemporal lobar degeneration/amyotrophic lateral sclerosis due to C9orf72 hexanucleotide repeat expansion
• 著者・編者: Kohji Mori; Shiho Gotoh; Ryota Uozumi; Tesshin Miyamoto; Shoshin Akamine; Yuya Kawabe; Shinji Tagami; Manabu Ikeda
• 出版事項: 日本 : Japan Medical Association
• 出版年月日等: 2023-01-16
• 出版年（W3CDTF）: 2023-01-16
• タイトル（掲載誌）: JMA Journal
• 巻号年月日等（掲載誌）: 6(1)
• 掲載巻: 6(1)
• ISSN（掲載誌）: 2433-3298
• ISSN-L（掲載誌）: 2433-328X
• 本文の言語コード: eng
• DOI: 10.31662/jmaj.2022-0160; https://doi.org/10.31662/jmaj.2022-0160
• 国立国会図書館永続的識別子: info:ndljp/pid/14494971; https://dl.ndl.go.jp/pid/14494971
• コレクション（共通）: 障害者向け資料
• コレクション（障害者向け資料：レベル1）: テキストデータ
• コレクション（個別）: 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他; https://dl.ndl.go.jp/collections/B00035
• 収集根拠: インターネット資料収集保存事業（WARP）
• 受理日（W3CDTF）: 2025-10-21T09:04:40+09:00
• 保存日（W3CDTF）: 2024-09-26
• 記録形式（IMT）: application/pdf
• オンライン閲覧公開範囲: インターネット公開
• 遠隔複写可否（NDL）: 不可
• 掲載誌（URI）: https://warp.da.ndl.go.jp/info:ndljp/pid/13747952/www.jmaj.jp/detail.php?id=10.31662%2Fjmaj.2022-0160
• 掲載誌（国立国会図書館永続的識別子）: info:ndljp/pid/14494969; https://dl.ndl.go.jp/pid/14494969
• 連携機関・データベース: 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

• 要約等: <p>Neuropathological features of frontotemporal dementia and amyotrophic lateral sclerosis (ALS) due to <i>C9orf72</i> GGGGCC hexanucleotide repeat expansion include early dipeptide repeats, repeat RNA foci, and subsequent TDP-43 pathologies. Since the discovery of the repeat expansion, extensive studies have elucidated the disease mechanism of how the repeat causes neurodegeneration. In this review, we summarize our current understanding of abnormal repeat RNA metabolism and repeat-associated non-AUG translation in <i>C9orf72</i> frontotemporal lobar degeneration/ALS. For repeat RNA metabolism, we specifically focus on the role of hnRNPA3, the repeat RNA-binding protein, and the EXOSC10/RNA exosome complex, an intracellular RNA-degrading enzyme. In addition, the mechanism of repeat-associated non-AUG translation inhibition via TMPyP4, a repeat RNA-binding compound, is discussed.</p>
• DOI: 10.31662/jmaj.2022-0160
• オンライン閲覧公開範囲: インターネット公開
• 連携機関・データベース: 科学技術振興機構 : J-STAGE; http://www.jstage.jst.go.jp

• 要約等: <p>Neuropathological features of frontotemporal dementia and amyotrophic lateral sclerosis (ALS) due to <i>C9orf72</i> GGGGCC hexanucleotide repeat expansion include early dipeptide repeats, repeat RNA foci, and subsequent TDP-43 pathologies. Since the discovery of the repeat expansion, extensive studies have elucidated the disease mechanism of how the repeat causes neurodegeneration. In this review, we summarize our current understanding of abnormal repeat RNA metabolism and repeat-associated non-AUG translation in <i>C9orf72</i> frontotemporal lobar degeneration/ALS. For repeat RNA metabolism, we specifically focus on the role of hnRNPA3, the repeat RNA-binding protein, and the EXOSC10/RNA exosome complex, an intracellular RNA-degrading enzyme. In addition, the mechanism of repeat-associated non-AUG translation inhibition via TMPyP4, a repeat RNA-binding compound, is discussed.</p>
• DOI: 10.31662/jmaj.2022-0160; https://doi.org/10.31662/jmaj.2022-0160
• オンライン閲覧公開範囲: インターネット公開
• 関連情報（URI）: http://id.ndl.go.jp/digimeta/14494971; https://dl.ndl.go.jp/pid/14494971; https://www.jmaj.jp/download.php?id=10.31662/jmaj.2022-0160; https://search.jamas.or.jp/link/ui/2024062351
• 連携機関・データベース: 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• 提供元機関・データベース: Japan Link Center; https://japanlinkcenter.org/top; 雑誌記事索引データベース; https://ndlsearch.ndl.go.jp; Crossref; https://www.crossref.org; 科学研究費助成事業データベース; https://kaken.nii.ac.jp/ja
• 書誌ID（NDLBibID）: 14494971; http://id.ndl.go.jp/bib/14494971