UMMS Affiliation

Department of Neurology

Publication Date


Document Type



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


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.


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 (, 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



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


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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