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

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,...

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Autores principales: 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
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Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/72d4780e4d0e4475960c6ed150a0885d
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spelling oai:doaj.org-article:72d4780e4d0e4475960c6ed150a0885d2021-12-02T14:42:26ZLoss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity10.1038/ncomms155582041-1723https://doaj.org/article/72d4780e4d0e4475960c6ed150a0885d2017-06-01T00:00:00Zhttps://doi.org/10.1038/ncomms15558https://doaj.org/toc/2041-1723Mutations 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.Jung-A. A. WooTian LiuCourtney TrotterCenxiao C. FangEmillio De NarvaezPatrick LePochatDrew MaslarAnusha BukhariXingyu ZhaoAndrew DeonarineSandy D. WesterheideDavid E. KangNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
description 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.
format article
author 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
author_facet 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
author_sort Jung-A. A. Woo
title Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
title_short Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
title_full Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
title_fullStr Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
title_full_unstemmed Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
title_sort loss of function chchd10 mutations in cytoplasmic tdp-43 accumulation and synaptic integrity
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/72d4780e4d0e4475960c6ed150a0885d
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