PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction

Author:

Zhou Wei1ORCID,Ma Dongrui2,Sun Alfred Xuyang13,Tran Hoang-Dai13,Ma Dong-liang4,Singh Brijesh K5,Zhou Jin5,Zhang Jinyan2,Wang Danlei3,Zhao Yi6,Yen Paul M5,Goh Eyleen47,Tan Eng-King12

Affiliation:

1. Neuroscience Research Laboratory, National Neuroscience Institute, Singapore

2. Department of Neurology, Singapore General Hospital, Singapore

3. Stem Cell and Regenerative Biology Laboratory, Genome Institute of Singapore, Singapore

4. Neuroregeneration Laboratory, Singhealth Duke-NUS Neuroscience Academic Clinical Program, Singapore

5. Programs in Metabolic and Cardiovascular Disorders, Duke-NUS Graduate Medical School, Singapore

6. Department of Clinical Research, Singapore General Hospital, Singapore

7. Neuroregeneration Laboratory, National Neuroscience Institute, Singapore

Funder

Parkinson’s disease translational clinical program

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference58 articles.

1. CHCHD2 mutations in autosomal dominant late-onset Parkinson’s disease: a genome-wide linkage and sequencing study;Funayama;Lancet Neurol.,2015

2. CHCHD2 and Parkinson’s disease;Jansen;Lancet Neurol.,2015

3. A nonsense mutation in CHCHD2 in a patient with Parkinson disease;Koschmidder;Neurology,2016

4. A new CHCHD2 mutation identified in a southern Italy patient with multiple system atrophy;Nicoletti;Parkinsonism Relat. Disord.,2018

5. Identification of CHCHD2 mutations in patients with Alzheimer’s disease, amyotrophic lateral sclerosis and frontotemporal dementia in China;Liu;Mol. Med. Rep.,2018

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