Abnormal splicing events due to loss of nuclear function of TDP-43 : pathophysiology and perspectives
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DOI[10.31662/jmaj.2024-0038]to the data of the same series
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- Material Type
- 記事
- Author/Editor
- Yuka Koike
- Publication, Distribution, etc.
- Publication Date
- 2024-07-16
- Publication Date (W3CDTF)
- 2024-07-16
- Periodical title
- JMA Journal
- No. or year of volume/issue
- 7(3)
- Volume
- 7(3)
- ISSN (Periodical Title)
- 2433-3298
- ISSN-L (Periodical Title)
- 2433-328X
- Text Language Code
- eng
- DOI
- 10.31662/jmaj.2024-0038
- Persistent ID (NDL)
- info:ndljp/pid/14495141
- Collection
- Collection (Materials For Handicapped People:1)
- Collection (particular)
- 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
- Acquisition Basis
- インターネット資料収集保存事業（WARP）
- Date Accepted (W3CDTF)
- 2025-10-21T09:04:40+09:00
- Date Captured (W3CDTF)
- 2024-09-26
- Format (IMT)
- application/pdf
- Access Restrictions
- インターネット公開
- Availability of remote photoduplication service
- 不可
- Periodical Title (URI)
- Periodical Title (Persistent ID (NDL))
- info:ndljp/pid/14495137
- Data Provider (Database)
- 国立国会図書館 : 国立国会図書館デジタルコレクション
- Summary, etc.
- <p>Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with a progressive and fatal course. They are often comorbid and share the same molecular spectrum. Their key pathological features are the formation of the aggregation of TDP-43, an RNA-binding protein, in the cytoplasm and its depletion from the nucleus in the central nervous system. In the nucleus, TDP-43 regulates several aspects of RNA metabolism, ranging from RNA transcription and alternative splicing to RNA transport. Suppressing the aberrant splicing events during RNA processing is one of the significant functions of TDP-43. This function is impaired when TDP-43 becomes depleted from the nucleus. Several critical cryptic splicing targets of TDP-43 have recently emerged, such as <i>STMN2</i>, <i>UNC13A</i>, and others. <i>UNC13A</i> is an important ALS/FTD risk gene, and the genetic variations, single nucleotide polymorphisms, cause disease via the increased susceptibility for cryptic exon inclusion under the TDP-43 dysfunction. Moreover, TDP-43 has an autoregulatory mechanism that regulates the splicing of its mRNA (<i>TARDBP</i> mRNA) in the healthy state. This study provides recent findings on the splicing regulatory function of TDP-43 and discusses the prospects of using these aberrant splicing events as efficient biomarkers.</p>
- DOI
- 10.31662/jmaj.2024-0038
- Access Restrictions
- インターネット公開
- Data Provider (Database)
- 科学技術振興機構 : J-STAGE
- Summary, etc.
- <p>Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with a progressive and fatal course. They are often comorbid and share the same molecular spectrum. Their key pathological features are the formation of the aggregation of TDP-43, an RNA-binding protein, in the cytoplasm and its depletion from the nucleus in the central nervous system. In the nucleus, TDP-43 regulates several aspects of RNA metabolism, ranging from RNA transcription and alternative splicing to RNA transport. Suppressing the aberrant splicing events during RNA processing is one of the significant functions of TDP-43. This function is impaired when TDP-43 becomes depleted from the nucleus. Several critical cryptic splicing targets of TDP-43 have recently emerged, such as <i>STMN2</i>, <i>UNC13A</i>, and others. <i>UNC13A</i> is an important ALS/FTD risk gene, and the genetic variations, single nucleotide polymorphisms, cause disease via the increased susceptibility for cryptic exon inclusion under the TDP-43 dysfunction. Moreover, TDP-43 has an autoregulatory mechanism that regulates the splicing of its mRNA (<i>TARDBP</i> mRNA) in the healthy state. This study provides recent findings on the splicing regulatory function of TDP-43 and discusses the prospects of using these aberrant splicing events as efficient biomarkers.</p>
- DOI
- 10.31662/jmaj.2024-0038
- Related Material (URI)
- Data Provider (Database)
- 国立情報学研究所 : CiNii Research
- Original Data Provider (Database)
- Japan Link Center雑誌記事索引データベースCrossref科学研究費助成事業データベース
- Bibliographic ID (NDL)
- 14495141