Searching a causative gene of corticobasal degeneration with next generation sequencing

利用二代测序寻找皮质基底节变性的致病基因

• 批准号: 15H06601
• 负责人: OGAKI Kotaro
• 金额: $ 1.91万
• 依托单位: Juntendo University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Research Activity Start-up
• 财政年份: 2015
• 资助国家: 日本
• 起止时间: 2015-08-28 至 2017-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15H06601/
• 关键词: 神経内科; 大脳皮質基底核変性症; 遺伝子; 神経科学; 次世代シークエンサー; 脳神経疾患

项目成果

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Parkinson’s disease

CHCHD2 基因的线粒体靶向序列变异是帕金森病的风险

• 发表时间: 2016
• 作者: 大垣 光太郎;古賀 俊輔;Michael G Heckman;Fabienne C Fiesel;安藤 真矢;西岡 健弥;舩山 学;Bradley Boeve;Wolfdieter Springer;Zbigniew K Wszolek;Dennis W. Dickson;服部 信孝;Owen A Ross.
• 通讯作者: Owen A Ross.

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.

• DOI: 10.1111/neup.12230
• 发表时间: 2016-02
• 期刊: Neuropathology : official journal of the Japanese Society of Neuropathology
• 作者: Ogaki K;Koga S;Aoki N;Lin W;Suzuki K;Ross OA;Dickson DW
• 通讯作者: Dickson DW

Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.

• DOI: 10.1002/mds.26499
• 发表时间: 2016-05
• 期刊: Movement disorders : official journal of the Movement Disorder Society
• 作者: Koga S;Josephs KA;Ogaki K;Labbé C;Uitti RJ;Graff-Radford N;van Gerpen JA;Cheshire WP;Aoki N;Rademakers R;Wszolek ZK;Ross OA;Dickson DW
• 通讯作者: Dickson DW

MAPT haplotype diversity in multiple system atrophy.

• DOI: 10.1016/j.parkreldis.2016.06.010
• 发表时间: 2016-09
• 期刊: Parkinsonism & related disorders
• 影响因子: 4.1
• 作者: Labbé C;Heckman MG;Lorenzo-Betancor O;Murray ME;Ogaki K;Soto-Ortolaza AI;Walton RL;Fujioka S;Koga S;Uitti RJ;van Gerpen JA;Petersen RC;Graff-Radford NR;Younkin SG;Boeve BF;Cheshire WP Jr;Low PA;Sandroni P;Coon EA;Singer W;Wszolek ZK;Dickson DW;Ross OA
• 通讯作者: Ross OA

The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.

• DOI: 10.1186/s13024-017-0174-z
• 发表时间: 2017-04-24
• 期刊: Molecular neurodegeneration
• 影响因子: 15.1
• 作者: Ando M;Fiesel FC;Hudec R;Caulfield TR;Ogaki K;Górka-Skoczylas P;Koziorowski D;Friedman A;Chen L;Dawson VL;Dawson TM;Bu G;Ross OA;Wszolek ZK;Springer W
• 通讯作者: Springer W