- 著者
- Fujita Mari Sasanuma Hiroyuki Yamamoto Kimiyo N. Harada Hiroshi Kurosawa Aya Adachi Noritaka Omura Masato Hiraoka Masahiro Takeda Shunichi Hirota Kouji
- 出版者
- Public Library of Science
- 雑誌
- PLoS ONE (ISSN:19326203)
- 巻号頁・発行日
- vol.8, no.4, 2013-04-03
- 被引用文献数
- 19
DNAが切れていないのに発生する染色体断裂の発見 -ヒトの被爆線量を測定する手法に異議あり-. 京都大学プレスリリース. 2013-04-04.
- 著者
- Uemura Norihito Koike Masato Ansai Satoshi Kinoshita Masato Ishikawa-Fujiwara Tomoko Matsui Hideaki Naruse Kiyoshi Sakamoto Naoaki Uchiyama Yasuo Todo Takeshi Takeda Shunichi Yamakado Hodaka Takahashi Ryosuke
- 出版者
- Public Library of Science
- 雑誌
- PLOS genetics (ISSN:15537404)
- 巻号頁・発行日
- vol.11, no.4, 2015-04-02
- 被引用文献数
- 59
パーキンソン病の解明に役立つメダカの作製に成功 -メダカが神経変性疾患の研究に貢献できる可能性- 京都大学プレスリリース. 2015-04-09.Homozygous mutations in the glucocerebrosidase (GBA) gene result in Gaucher disease (GD), the most common lysosomal storage disease. Recent genetic studies have revealed that GBA mutations confer a strong risk for sporadic Parkinson's disease (PD). To investigate how GBA mutations cause PD, we generated GBA nonsense mutant (GBA-/-) medaka that are completely deficient in glucocerebrosidase (GCase) activity. In contrast to the perinatal death in humans and mice lacking GCase activity, GBA-/- medaka survived for months, enabling analysis of the pathological progression. GBA-/- medaka displayed the pathological phenotypes resembling human neuronopathic GD including infiltration of Gaucher cell-like cells into the brains, progressive neuronal loss, and microgliosis. Detailed pathological findings represented lysosomal abnormalities in neurons and alpha-synuclein (α-syn) accumulation in axonal swellings containing autophagosomes. Unexpectedly, disruption of α-syn did not improve the life span, formation of axonal swellings, neuronal loss, or neuroinflammation in GBA-/- medaka. Taken together, the present study revealed GBA-/- medaka as a novel neuronopathic GD model, the pahological mechanisms of α-syn accumulation caused by GCase deficiency, and the minimal contribution of α-syn to the pathogenesis of neuronopathic GD.
1 0 0 0 OA EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step.
- 著者
- Ninagawa Satoshi Okada Tetsuya Sumitomo Yoshiki Kamiya Yukiko Kato Koichi Horimoto Satoshi Ishikawa Tokiro Takeda Shunichi Sakuma Tetsushi Yamamoto Takashi Mori Kazutoshi
- 出版者
- Rockefeller University Press
- 雑誌
- The Journal of cell biology (ISSN:15408140)
- 巻号頁・発行日
- vol.206, no.3, pp.347-356, 2014-08-04
- 被引用文献数
- 126
構造異常糖タンパク質の分解に必須な糖鎖刈り込み機構を解明 -最新ゲノム編集解析により醜いアヒルの子が美しい白鳥に変身-. 京都大学プレスリリース. 2014-09-02.