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アイテム
Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)
https://tokushima-u.repo.nii.ac.jp/records/2007260
https://tokushima-u.repo.nii.ac.jp/records/2007260c7665727-9e26-44ee-a747-97be63c97f1f
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
brainsci_7_7_72.pdf (1.31 MB)
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| Item type | 文献 / Documents(1) | |||||||||||||||||
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| 公開日 | 2020-03-12 | |||||||||||||||||
| アクセス権 | ||||||||||||||||||
| アクセス権 | open access | |||||||||||||||||
| 資源タイプ | ||||||||||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||||
| 資源タイプ | journal article | |||||||||||||||||
| 出版社版DOI | ||||||||||||||||||
| 関連識別子 | https://doi.org/10.3390/brainsci7070072 | |||||||||||||||||
| 関連名称 | 10.3390/brainsci7070072 | |||||||||||||||||
| 出版タイプ | ||||||||||||||||||
| 出版タイプ | VoR | |||||||||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||||||||||
| タイトル | ||||||||||||||||||
| タイトル | Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag) | |||||||||||||||||
| 著者 |
瓦井, 俊孝
× 瓦井, 俊孝× 森垣, 龍馬
WEKO
632
× 梶, 龍兒
WEKO
1622
× 後藤, 惠 |
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| 抄録 | ||||||||||||||||||
| 内容記述 | X-linked dystonia–parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or “Lubag” disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the TAF1 (TATA box-binding protein associated factor 1) gene, which is a critical component of the cellular transcription machinery. The major neuropathology of XDP is progressive neuronal loss in the neostriatum (i.e., the caudate nucleus and putamen). XDP may be used as a human disease model to elucidate the pathomechanisms by which striatal neurodegeneration leads to dystonia symptoms. In this article, we introduce recent advances in the understanding of the interplay between pathophysiology and genetics in XDP. | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 主題 | X-linked dystonia–parkinsonism | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 主題 | striatum | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 主題 | striosome | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 主題 | neurodegeneration | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 主題 | genetics | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 主題 | pathophysiology | |||||||||||||||||
| 書誌情報 |
en : Brain Sciences 巻 7, 号 7, p. 72, 発行日 2017-06-26 |
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| 収録物ID | ||||||||||||||||||
| 収録物識別子タイプ | ISSN | |||||||||||||||||
| 収録物識別子 | 20763425 | |||||||||||||||||
| 出版者 | ||||||||||||||||||
| 出版者 | MDPI | |||||||||||||||||
| 権利情報 | ||||||||||||||||||
| 権利情報 | © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). | |||||||||||||||||
| EID | ||||||||||||||||||
| 識別子 | 325978 | |||||||||||||||||
| 言語 | ||||||||||||||||||
| 言語 | eng | |||||||||||||||||
