Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease

Zhao Chen; Chunrong Wang; Caifa Zheng; Zhe Long; Li Cao; Xunhua Li; Huifang Shang; Xinzhen Yin; Baorong Zhang; Jingyu Liu; Dongxue Ding; Yun Peng; Huirong Peng; Wei Ye; Rong Qiu; Qian Pan; Kun Xia; Shengdi Chen; Jorge Sequeiros; Tetsuo Ashizawa; Beisha Tang; Hong Jiang; Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA)

doi:10.1093/brain/awx028

Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease

Brain. 2017 Apr 1;140(4):e25. doi: 10.1093/brain/awx028.

Authors

Zhao Chen¹, Chunrong Wang¹, Caifa Zheng¹, Zhe Long¹, Li Cao², Xunhua Li³, Huifang Shang⁴, Xinzhen Yin⁵, Baorong Zhang⁵, Jingyu Liu⁶, Dongxue Ding¹, Yun Peng¹, Huirong Peng¹, Wei Ye¹, Rong Qiu⁷, Qian Pan⁸, Kun Xia⁸, Shengdi Chen², Jorge Sequeiros⁹, Tetsuo Ashizawa¹⁰, Beisha Tang^{1

8

11

12

13

14

15}, Hong Jiang^{1

8

12

16}; Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA)

Affiliations

¹ Department of Neurology Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.
² Department of Neurology and Institute of Neurology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200025, P. R. China.
³ Department of Neurology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, P. R. China.
⁴ Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, P. R. China.
⁵ Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310009, P. R. China.
⁶ Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, P. R. China.
⁷ School of Information Science and Engineering, Central South University, Changsha, Hunan, 410083, P. R. China.
⁸ State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078, P. R. China.
⁹ IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação na Saúde; and ICBAS; Univ. Porto, Portugal.
¹⁰ Department of Neurology, Houston Methodist Neurological Institute & Houston Methodist Research Institute, R11-117, 6670 Bertner Avenue, Houston, TX, 77030, USA.
¹¹ National Clinical Research Center for Geriatric Diseases, Changsha, Hunan 410078, P. R. China.
¹² Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China.
¹³ Parkinson's Disease Center of Beijing Institute for Brain Disorders, Beijing 100069, P. R. China.
¹⁴ Collaborative Innovation Center for Brain Science, Shanghai 200032, P. R. China.
¹⁵ Collaborative Innovation Center for Genetics and Development, Shanghai 200433, P. R. China.
¹⁶ Xinjiang Medical University, Xinjiang, 830011, P. R. China.

PMID: 28334945
DOI: 10.1093/brain/awx028

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Age of Onset
Aged
Asian People / genetics
Ataxin-3 / genetics*
China
Female
Humans
Machado-Joseph Disease / genetics*
Male
Middle Aged
Polymorphism, Single Nucleotide / genetics
Repressor Proteins / genetics*
Trinucleotide Repeat Expansion / genetics
Ubiquitin / genetics

Substances

Repressor Proteins
Ubiquitin
ATXN3 protein, human
Ataxin-3