2020年2月27日
[Molecular mechanism of amyotrophic lateral sclerosis (ALS) from the viewpoint of the formation and degeneration of transactive response DNA-binding protein 43 kDa (TDP-43) inclusions].
Rinsho shinkeigaku = Clinical neurology
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- 巻
- 60
- 号
- 2
- 開始ページ
- 109
- 終了ページ
- 116
- 記述言語
- 日本語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.5692/clinicalneurol.cn-001362
Sporadic amyotrophic lateral sclerosis (SALS) and many cases of familial ALS (FALS) demonstrate cytoplasmic transactive response DNA-binding protein 43 kDa (TDP-43)-positive inclusion bodies. Thus, TDP-43 plays a vital role in ALS pathogenesis. Functional analysis of the ALS causative genes advanced the elucidation of the mechanism associated with the formation and degradation of TDP-43 aggregates. Stress granules, which are non-membranous organelles, are attracting attention as sites of aggregate formation, with involvement of FUS and C9orf72. Concurrently, ALS causative genes related to the ubiquitin-proteasome and autophagy systems, which are aggregate degradation mechanisms, have also been reported. Therefore, therapeutic research based on the molecular pathology common to SALS and FALS has been advanced.
- リンク情報
- ID情報
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- DOI : 10.5692/clinicalneurol.cn-001362
- PubMed ID : 31956195