{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T14:20:42Z","timestamp":1791814842485,"version":"4.3.4"},"reference-count":238,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":43,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ALS Canada-Brain Canada 2020 Discovery Grant","award":["HSC0005599"],"award-info":[{"award-number":["HSC0005599"]}]},{"name":"ALS Canada Doctoral Research Award 2016"},{"DOI":"10.13039\/100019889","name":"Weston Family Foundation","doi-asserted-by":"publisher","award":["TR202268"],"award-info":[{"award-number":["TR202268"]}],"id":[{"id":"10.13039\/100019889","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000243","name":"W. Garfield Weston Foundation","doi-asserted-by":"publisher","award":["CNV0001757"],"award-info":[{"award-number":["CNV0001757"]}],"id":[{"id":"10.13039\/501100000243","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Natural Sciences and Engineering Research Councilof Canada","award":["RGPIN-2019\u201307014"],"award-info":[{"award-number":["RGPIN-2019\u201307014"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["GM122880"],"award-info":[{"award-number":["GM122880"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["GM144215"],"award-info":[{"award-number":["GM144215"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS048843"],"award-info":[{"award-number":["NS048843"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Muscular Dystrophy Association Development","award":["MDA546770"],"award-info":[{"award-number":["MDA546770"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071430"],"award-info":[{"award-number":["82071430"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"James Hunter and Family ALS Initiative"},{"DOI":"10.13039\/100015569","name":"Canadian Consortium on Neurodegeneration in Aging","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015569","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ALS Association Milton Safenowitz Fellowhipand ALS Double Play Christopher Chiu Fellowship"},{"name":"ALS Society of Canada Project"},{"DOI":"10.13039\/100013289","name":"ERA-LEARN","doi-asserted-by":"publisher","award":["063-REPETOMICS"],"award-info":[{"award-number":["063-REPETOMICS"]}],"id":[{"id":"10.13039\/100013289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and C9orf72, is linked to multiple diseases. C9orf72 (GGGGCC)n expansions (C9orf72Exp) are associated with incompletely penetrant amyotrophic lateral sclerosis, frontotemporal dementia and autoimmune disorders. C9orf72Exp patients display hyperactive cGAS-STING-linked interferon immune and DNA damage responses, but the source of immunostimulatory or damaged DNA is unknown. Here, we show C9orf72Exp in pre-symptomatic and amyotrophic lateral sclerosis-frontotemporal dementia patient cells and brains cause the folate-sensitive chromosomal fragile site, FRA9A. FRA9A centers on &amp;gt;33 kb of C9orf72 as highly compacted chromatin embedded in an 8.2 Mb fragility zone spanning 9p21, encompassing 46 genes, making FRA9A one of the largest fragile sites. C9orf72Exp cells show chromosomal instability, heightened global- and Chr9p-enriched sister-chromatid exchanges, truncated-Chr9s, acentric-Chr9s and Chr9-containing micronuclei, providing endogenous sources of damaged and immunostimulatory DNA. Cells from one C9orf72Exp patient contained a highly rearranged FRA9A-expressing Chr9 with Chr9-wide dysregulated gene expression. Somatic C9orf72Exp repeat instability and chromosomal fragility are sensitive to folate deficiency. Age-dependent repeat instability, chromosomal fragility and chromosomal instability can be transferred to CNS and peripheral tissues of transgenic C9orf72Exp mice, implicating C9orf72Exp as the source. Our results highlight unappreciated effects of C9orf72 expansions that trigger vitamin-sensitive chromosome fragility, adding structural variations to the disease-enriched 9p21 locus, and likely elsewhere.<\/jats:p>","DOI":"10.1093\/narmme\/ugae019","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T06:37:14Z","timestamp":1731479834000},"source":"Crossref","is-referenced-by-count":17,"title":["<i>C9orf72<\/i> repeat expansion creates the unstable folate-sensitive fragile site FRA9A"],"prefix":"10.1093","volume":"1","author":[{"given":"Mila","family":"Mirceta","sequence":"first","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika\u00a0H M","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Shum","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya\u00a0K","family":"Prasolava","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryanna","family":"Meikle","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Lanni","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohiuddin","family":"Mohiuddin","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul\u00a0M","family":"McKeever","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto , 60 Leonard Avenue, Toronto, M5T 2S8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Zhang","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto , 60 Leonard Avenue, Toronto, M5T 2S8,","place":["Canada"]},{"name":"The First Rehabilitation Hospital of Shanghai, Department of Medical Genetics, School of Medicine, Tongji University , Shanghai, 200090 ,","place":["China"]},{"name":"State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, School of Medicine, Tongji University , Shanghai,","place":["China"]},{"name":"Advanced Study,\u00a0Tongji University , Shanghai, 200092 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minggao","family":"Liang","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse","family":"van\u00a0der\u00a0Werf","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefaan","family":"Scheers","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick\u00a0A","family":"Dion","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute-Hospital, McGill University , 3801 University Avenue, Montreal, Quebec, H3A 2B4,","place":["Canada"]},{"name":"Department of Neurology and Neurosurgery, McGill University , 3801 University Avenue, Montreal, Quebec, H3A 2B4,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peixiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4015-3066","authenticated-orcid":false,"given":"Michael\u00a0D","family":"Wilson","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Abell","sequence":"additional","affiliation":[{"name":"Department of Biology, Tufts University , 200 Boston Avenue, Medford , MA\u00a002155,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliot\u00a0A","family":"Philips","sequence":"additional","affiliation":[{"name":"Department of Biology, Tufts University , 200 Boston Avenue, Medford , MA\u00a002155,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0141ukasz\u00a0J","family":"Sznajder","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, College of Medicine, University of Florida , 2033 Mowry Road, Gainesville , FL\u00a032610-3610,","place":["USA"]},{"name":"Department of Chemistry and Biochemistry, University of Nevada , 4003-4505 South Maryland Parkway, Las Vegas , NV\u00a089154 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6245-5367","authenticated-orcid":false,"given":"Maurice\u00a0S","family":"Swanson","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, College of Medicine, University of Florida , 2033 Mowry Road, Gainesville , FL\u00a032610-3610,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Mehkary","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahreen","family":"Khan","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuyuki","family":"Yokoi","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Jung","sequence":"additional","affiliation":[{"name":"BACPAC Resource Center, Children\u2019s Hospital Oakland Research Institute , 25129 NE 42nd Pl, Redmond, WA\u00a098053,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pieter\u00a0J","family":"de\u00a0Jong","sequence":"additional","affiliation":[{"name":"BACPAC Resource Center, Children\u2019s Hospital Oakland Research Institute , 25129 NE 42nd Pl, Redmond, WA\u00a098053,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1652-2917","authenticated-orcid":false,"given":"Catherine\u00a0H","family":"Freudenreich","sequence":"additional","affiliation":[{"name":"Department of Biology, Tufts University , 200 Boston Avenue, Medford , MA\u00a002155,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"McGoldrick","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto , 60 Leonard Avenue, Toronto, M5T 2S8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7273-4968","authenticated-orcid":false,"given":"Ryan\u00a0K C","family":"Yuen","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1142-2842","authenticated-orcid":false,"given":"Agessandro","family":"Abrah\u00e3o","sequence":"additional","affiliation":[{"name":"Sunnybrook Health Sciences Centre , 2075 Bayview Avenue, North York, Toronto , ON, M4N 3M5,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1519-6731","authenticated-orcid":false,"given":"Julia","family":"Keith","sequence":"additional","affiliation":[{"name":"Sunnybrook Health Sciences Centre , 2075 Bayview Avenue, North York, Toronto , ON, M4N 3M5,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorne","family":"Zinman","sequence":"additional","affiliation":[{"name":"Sunnybrook Health Sciences Centre , 2075 Bayview Avenue, North York, Toronto , ON, M4N 3M5,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Robertson","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto , 60 Leonard Avenue, Toronto, M5T 2S8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Rogaeva","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto , 60 Leonard Avenue, Toronto, M5T 2S8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8403-1418","authenticated-orcid":false,"given":"Guy\u00a0A","family":"Rouleau","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute-Hospital, McGill University , 3801 University Avenue, Montreal, Quebec, H3A 2B4,","place":["Canada"]},{"name":"Department of Neurology and Neurosurgery, McGill University , 3801 University Avenue, Montreal, Quebec, H3A 2B4,","place":["Canada"]},{"name":"Department of Human Genetics, McGill University , 3801 University Avenue, Montreal, Quebec, H3A 2B4,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00a0Frank","family":"Kooy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9545-4205","authenticated-orcid":false,"given":"Christopher\u00a0E","family":"Pearson","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children , 686 Bay Street, Toronto, M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , 1 King's College Circle, Toronto , ON, M3S 1A8,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,11,12]]},"reference":[{"key":"2025072502170889700_B1","doi-asserted-by":"crossref","first-page":"23204","DOI":"10.1038\/srep23204","article-title":"C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice","volume":"6","author":"Atanasio","year":"2016","journal-title":"Sci. Rep."},{"key":"2025072502170889700_B2","doi-asserted-by":"crossref","first-page":"e670","DOI":"10.1212\/NXG.0000000000000670","article-title":"Expanding clinical spectrum of C9ORF72-related disorders and promising therapeutic strategies: a review","volume":"8","author":"Breevoort","year":"2022","journal-title":"Neurol. Genet."},{"key":"2025072502170889700_B3","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1007\/s12017-019-08528-8","article-title":"C9orf72 intermediate alleles in patients with amyotrophic lateral sclerosis, systemic lupus erythematosus, and rheumatoid arthritis","volume":"21","author":"Fredi","year":"2019","journal-title":"Neuromol. Med."},{"key":"2025072502170889700_B4","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41586-020-2625-x","article-title":"C9orf72 in myeloid cells suppresses STING-induced inflammation","volume":"585","author":"McCauley","year":"2020","journal-title":"Nature"},{"key":"2025072502170889700_B5","doi-asserted-by":"crossref","first-page":"e301","DOI":"10.1212\/NXI.0000000000000301","article-title":"Increased prevalence of autoimmune disease within C9 and FTD\/MND cohorts: completing the picture","volume":"3","author":"Miller","year":"2016","journal-title":"Neurol. Neuroimmunol. Neuroinflamm."},{"key":"2025072502170889700_B6","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1136\/jnnp-2020-325377","article-title":"Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions","volume":"92","author":"van\u00a0der\u00a0Ende","year":"2021","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"2025072502170889700_B7","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/mus.26383","article-title":"Increased risk of melanoma in C9ORF72 repeat expansion carriers: a case-control study","volume":"59","author":"T\u00e1buas-Pereira","year":"2019","journal-title":"Muscle Nerve"},{"key":"2025072502170889700_B8","doi-asserted-by":"crossref","first-page":"e635","DOI":"10.1212\/WNL.0000000000005996","article-title":"The multistep hypothesis of ALS revisited: the role of genetic mutations","volume":"91","author":"Chi\u00f2","year":"2018","journal-title":"Neurology"},{"key":"2025072502170889700_B9","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1080\/21678421.2023.2272187","article-title":"Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion","volume":"25","author":"Van\u00a0Wijk","year":"2024","journal-title":"Amyotroph. Lateral Scler. Frontotemporal Degener."},{"key":"2025072502170889700_B10","doi-asserted-by":"crossref","first-page":"1779.e5","DOI":"10.1016\/j.neurobiolaging.2014.01.016","article-title":"Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion","volume":"35","author":"Waite","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"2025072502170889700_B11","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.brainres.2016.04.062","article-title":"C9orf72 isoforms in amyotrophic lateral sclerosis and frontotemporal lobar degeneration","volume":"1647","author":"Xiao","year":"2016","journal-title":"Brain Res."},{"key":"2025072502170889700_B12","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1007\/s00401-024-02688-z","article-title":"Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia","volume":"147","author":"Marques","year":"2024","journal-title":"Acta Neuropathol."},{"key":"2025072502170889700_B13","doi-asserted-by":"crossref","first-page":"106579","DOI":"10.1016\/j.isci.2023.106579","article-title":"C9ORF72 suppresses JAK-STAT mediated inflammation","volume":"26","author":"Pang","year":"2023","journal-title":"Iscience"},{"key":"2025072502170889700_B14","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13024-022-00525-z","article-title":"The role of inflammation in neurodegeneration: novel insights into the role of the immune system in C9orf72 HRE-mediated ALS\/FTD","volume":"17","author":"Masrori","year":"2022","journal-title":"Mol. Neurodegener."},{"key":"2025072502170889700_B15","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1093\/hmg\/ddad163","article-title":"Disrupted phase behavior of FUS underlies poly-PR-induced DNA damage in amyotrophic lateral sclerosis","volume":"33","author":"Wang","year":"2023","journal-title":"Hum. Mol. Genet."},{"key":"2025072502170889700_B16","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s00401-022-02471-y","article-title":"HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS","volume":"144","author":"Braems","year":"2022","journal-title":"Acta Neuropathol."},{"key":"2025072502170889700_B17","doi-asserted-by":"crossref","first-page":"786420","DOI":"10.3389\/fnagi.2022.786420","article-title":"DNA damage, defective DNA repair, and neurodegeneration in amyotrophic lateral sclerosis","volume":"14","author":"Konopka","year":"2022","journal-title":"Front. Aging Neurosci."},{"key":"2025072502170889700_B18","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/j.cell.2020.12.025","article-title":"p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)","volume":"184","author":"Maor-Nof","year":"2021","journal-title":"Cell"},{"key":"2025072502170889700_B19","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s13024-020-00365-9","article-title":"Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS\/FTD","volume":"15","author":"Andrade","year":"2020","journal-title":"Mol. 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