UMMS Affiliation

Department of Neurology

Publication Date

2019-12-01

Document Type

Article

Disciplines

Amino Acids, Peptides, and Proteins | Nervous System Diseases | Neurology | Neuroscience and Neurobiology | Nucleic Acids, Nucleotides, and Nucleosides

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.

Keywords

dipeptide repeat (DPR) proteins, neurons, stem cells, CRISPR-Cas9

Rights and Permissions

© 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.

DOI of Published Version

10.1007/s00401-019-02083-z

Source

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

Journal/Book/Conference Title

Acta neuropathologica

Related Resources

Link to Article in PubMed

PubMed ID

31624870

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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