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- 岡澤 均
- 東京医科歯科大学難治疾患研究所神経病理学分野
書誌事項
- タイトル別名
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- Elucidation of molecular pathomechanisms of Huntington's disease
- ナラリンショウ ハンチントンビョウ ノ ブンシ ビョウタイ カイメイ
この論文をさがす
説明
In Huntington's disease, CAG repeat expansion of the Huntingtin gene produces mutant RNA and mutant protein containing elongated polyglutamine tract, which causes dysfunction and cell death of neurons. From our reseach of Huntington's disease and other polyglutamine diseases for nearly 20 years, we identified new disease-related genes including PQBP1, Ku70, HMGB, Maxer, and Omi. Through the analysis of these molecules, we unraveled new pathomechanisms deeply linked to nuclear functions such as transcription, splicing, DNA damage repair. These findings will become the basis to develop new molecule targeted therapeutics.<br>
収録刊行物
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- 臨床神経学
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臨床神経学 52 (2), 63-72, 2012
日本神経学会
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詳細情報 詳細情報について
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- CRID
- 1390282680013628928
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- NII論文ID
- 40019200763
- 130004505243
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- NII書誌ID
- AN00253207
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- COI
- 1:STN:280:DC%2BC383ltlWhug%3D%3D
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- ISSN
- 18820654
- 0009918X
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- NDL書誌ID
- 023526605
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- PubMed
- 22354228
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- データソース種別
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可