Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

Jung-A. A. Woo; Tian Liu; Courtney Trotter; Cenxiao C. Fang; Emillio De Narvaez; Patrick LePochat; Drew Maslar; Anusha Bukhari; Xingyu Zhao; Andrew Deonarine; Sandy D. Westerheide; David E. Kang

doi:10.1038/ncomms15558

Nature Communications (Jun 2017)

Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

Jung-A. A. Woo,
Tian Liu,
Courtney Trotter,
Cenxiao C. Fang,
Emillio De Narvaez,
Patrick LePochat,
Drew Maslar,
Anusha Bukhari,
Xingyu Zhao,
Andrew Deonarine,
Sandy D. Westerheide,
David E. Kang

Affiliations

Jung-A. A. Woo: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Tian Liu: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Courtney Trotter: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Cenxiao C. Fang: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Emillio De Narvaez: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Patrick LePochat: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Drew Maslar: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Anusha Bukhari: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Xingyu Zhao: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine
Andrew Deonarine: Department of Cell Biology, Microbiology & Molecular Biology, University of South Florida, College of Arts and Sciences
Sandy D. Westerheide: Department of Cell Biology, Microbiology & Molecular Biology, University of South Florida, College of Arts and Sciences
David E. Kang: USF Health Byrd Alzheimer’s Institute, University of South Florida, Morsani College of Medicine

DOI: https://doi.org/10.1038/ncomms15558
Journal volume & issue: Vol. 8, no. 1
pp. 1 – 15

Abstract

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Mutations inCHCHD10 have been recently associated with frontotemporal dementia and amyotrophic lateral sclerosis. Here the authors study the functions of endogenous CHCHD10 in Caenorhabditis elegans, primary neurons, and mouse, and show that it normally protects mitochondria and synaptic integrity, and retains TDP-43 in the nucleus.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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