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Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells
Almeida, Sandra Krishnan, Gopinath Rushe, Mia Gu, Yuanzheng Kankel, Mark W. Gao, Fen-Biao
Almeida, Sandra
Krishnan, Gopinath
Rushe, Mia
Gu, Yuanzheng
Kankel, Mark W.
Gao, Fen-Biao
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UMass Chan Affiliations
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Journal Article
Publication Date
2019-12-01
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Abstract
GGGGCC (G4C2) repeat expansion in the first intron of C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A key pathological hallmark of C9ORF72-related ALS/FTD is the accumulation of dipeptide repeat (DPR) proteins synthesized from both sense and antisense repeat RNAs in affected neurons.To investigate how DPR proteins are synthesized in C9ORF72 human neurons, we used CRISPR-Cas9 technology to generate a homozygous deletion in the first intron of C9ORF72, 5′ to the G4C2 repeats to assess the effect of this deletion on DPR production.
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Acta Neuropathol. 2019 Dec;138(6):1099-1101. doi: 10.1007/s00401-019-02083-z. Epub 2019 Oct 17. Link to article on publisher's site
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10.1007/s00401-019-02083-z
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31624870
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© The Author(s) 2019. Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.