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dc.contributor.authorAlmeida, Sandra
dc.contributor.authorKrishnan, Gopinath
dc.contributor.authorRushe, Mia
dc.contributor.authorGu, Yuanzheng
dc.contributor.authorKankel, Mark W.
dc.contributor.authorGao, Fen-Biao
dc.date2022-08-11T08:09:54.000
dc.date.accessioned2022-08-23T16:48:32Z
dc.date.available2022-08-23T16:48:32Z
dc.date.issued2019-12-01
dc.date.submitted2020-01-02
dc.identifier.citation<p>Acta Neuropathol. 2019 Dec;138(6):1099-1101. doi: 10.1007/s00401-019-02083-z. Epub 2019 Oct 17. <a href="https://doi.org/10.1007/s00401-019-02083-z">Link to article on publisher's site</a></p>
dc.identifier.issn0001-6322 (Linking)
dc.identifier.doi10.1007/s00401-019-02083-z
dc.identifier.pmid31624870
dc.identifier.urihttp://hdl.handle.net/20.500.14038/41292
dc.description.abstractGGGGCC (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.
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=31624870&dopt=Abstract">Link to Article in PubMed</a></p>
dc.rights© 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.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectdipeptide repeat (DPR) proteins
dc.subjectneurons
dc.subjectstem cells
dc.subjectCRISPR-Cas9
dc.subjectAmino Acids, Peptides, and Proteins
dc.subjectNervous System Diseases
dc.subjectNeurology
dc.subjectNeuroscience and Neurobiology
dc.subjectNucleic Acids, Nucleotides, and Nucleosides
dc.titleProduction of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells
dc.typeJournal Article
dc.source.journaltitleActa neuropathologica
dc.source.volume138
dc.source.issue6
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5097&amp;context=oapubs&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/oapubs/4078
dc.identifier.contextkey16101178
refterms.dateFOA2022-08-23T16:48:32Z
html.description.abstract<p>GGGGCC (G4C2) repeat expansion in the first intron of <em>C9ORF72</em> is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A key pathological hallmark of <em>C9ORF72</em>-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 <em>C9ORF72</em> human neurons, we used CRISPR-Cas9 technology to generate a homozygous deletion in the first intron of <em>C9ORF72,</em> 5′ to the G4C2 repeats to assess the effect of this deletion on DPR production.</p>
dc.identifier.submissionpathoapubs/4078
dc.contributor.departmentDepartment of Neurology
dc.source.pages1099-1101


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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.
Except where otherwise noted, this item's license is described as © 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.