Elucidation of molecular mechanisms and development of surrogate markers for multiple system atrophy caused by COQ2 mutations

COQ2突变引起的多系统萎缩的分子机制的阐明和替代标记的开发

• 批准号: 26253054
• 负责人: Tsuji Shoji
• 金额: $ 27.04万
• 依托单位: The University of Tokyo
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (A)
• 财政年份: 2014
• 资助国家: 日本
• 起止时间: 2014-04-01 至 2017-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-26253054/
• 关键词: 多系統萎縮症; COQ2; フラックスアナライザー; coenzyme Q10; ミトコンドリア; 神経分子病態学; shojitsuji-tky; ミトコンドリア機能

项目成果

Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations.

• DOI: 10.1007/s12311-017-0846-9
• 发表时间: 2017-06
• 期刊: Cerebellum (London, England)
• 作者: Mitsui J;Koguchi K;Momose T;Takahashi M;Matsukawa T;Yasuda T;Tokushige SI;Ishiura H;Goto J;Nakazaki S;Kondo T;Ito H;Yamamoto Y;Tsuji S
• 通讯作者: Tsuji S

Functional Analysis of COQ2 V393A variant associated with Multiple system atrophy based on measurement of Oxygen Consumption Rate of Transformed Yeasts Carrying human COQ2 cDNAs．

基于携带人 COQ2 cDNA 的转化酵母的耗氧率测量，对与多系统萎缩相关的 COQ2 V393A 变体进行功能分析。

• 发表时间: 2016
• 作者: Tsutomu Yasuda;Takashi Matsukawa;Jun Mitsui;Shoji Tsuji
• 通讯作者: Shoji Tsuji

Functional Analysis of COQ2 V393A variant associated with Multiple system atrophy based on measurement of Oxygen Consumption Rate of Transformed Yeasts Carrying human COQ2 cDNAs.

基于携带人 COQ2 cDNA 的转化酵母的耗氧率测量，对与多系统萎缩相关的 COQ2 V393A 变体进行功能分析。

• 发表时间: 2016
• 作者: Tsutomu Yasuda;Takashi Matsukawa;Jun Mitsui;Shoji Tsuji
• 通讯作者: Shoji Tsuji