Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation
The role of brain somatic mutations in neurodegenerative diseases such as Alzheimer’s disease (AD) is not well understood. Here the authors carry out high-depth exome sequencing ~500× on brain tissue from patients with AD and controls, and identify mutations in a number of genes that are known to co...
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Nature Portfolio
2019
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oai:doaj.org-article:b694e92a879449b6991c1d1dd1d2b9432021-12-02T17:02:01ZBrain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation10.1038/s41467-019-11000-72041-1723https://doaj.org/article/b694e92a879449b6991c1d1dd1d2b9432019-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-11000-7https://doaj.org/toc/2041-1723The role of brain somatic mutations in neurodegenerative diseases such as Alzheimer’s disease (AD) is not well understood. Here the authors carry out high-depth exome sequencing ~500× on brain tissue from patients with AD and controls, and identify mutations in a number of genes that are known to contribute to phosphorylation and aggregation of tau, including PIN1.Jun Sung ParkJunehawk LeeEun Sun JungMyeong-Heui KimIl Bin KimHyeonju SonSangwoo KimSanghyeon KimYoung Mok ParkInhee Mook-JungSeok Jong YuJeong Ho LeeNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-12 (2019) |
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Science Q Jun Sung Park Junehawk Lee Eun Sun Jung Myeong-Heui Kim Il Bin Kim Hyeonju Son Sangwoo Kim Sanghyeon Kim Young Mok Park Inhee Mook-Jung Seok Jong Yu Jeong Ho Lee Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation |
description |
The role of brain somatic mutations in neurodegenerative diseases such as Alzheimer’s disease (AD) is not well understood. Here the authors carry out high-depth exome sequencing ~500× on brain tissue from patients with AD and controls, and identify mutations in a number of genes that are known to contribute to phosphorylation and aggregation of tau, including PIN1. |
format |
article |
author |
Jun Sung Park Junehawk Lee Eun Sun Jung Myeong-Heui Kim Il Bin Kim Hyeonju Son Sangwoo Kim Sanghyeon Kim Young Mok Park Inhee Mook-Jung Seok Jong Yu Jeong Ho Lee |
author_facet |
Jun Sung Park Junehawk Lee Eun Sun Jung Myeong-Heui Kim Il Bin Kim Hyeonju Son Sangwoo Kim Sanghyeon Kim Young Mok Park Inhee Mook-Jung Seok Jong Yu Jeong Ho Lee |
author_sort |
Jun Sung Park |
title |
Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation |
title_short |
Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation |
title_full |
Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation |
title_fullStr |
Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation |
title_full_unstemmed |
Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation |
title_sort |
brain somatic mutations observed in alzheimer’s disease associated with aging and dysregulation of tau phosphorylation |
publisher |
Nature Portfolio |
publishDate |
2019 |
url |
https://doaj.org/article/b694e92a879449b6991c1d1dd1d2b943 |
work_keys_str_mv |
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