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The expansion is transcribed to sense and antisense RNA, which form RNA foci and bind cellular proteins. This mechanism of action is considered cytotoxic. Translation of the expanded RNA transcripts also leads to the accumulation of toxic dipeptide repeat proteins (DPRs). The RNA-binding protein splicing factor proline and glutamine rich (SFPQ), which is being increasingly associated with ALS and FTD pathology, binds to sense RNA foci. Here, we show that SFPQ plays an important role in the C9orf72 mutation. Overexpression of SFPQ resulted in higher numbers of both sense and antisense RNA foci and DPRs in transfected human embryonic kidney (HEK) cells. Conversely, reduced SPFQ levels resulted in lower numbers of RNA foci and DPRs in both transfected HEK cells and C9orf72 mutation-positive patient-derived fibroblasts and lymphoblasts. Therefore, we have revealed a role of SFPQ in regulating the C9orf72 mutation that has implications for understanding and developing novel therapeutic targets for ALS and FTD.<\/jats:p>\n               <jats:p>This article has an associated First Person interview with the first author of the paper.<\/jats:p>","DOI":"10.1242\/jcs.256602","type":"journal-article","created":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T10:52:29Z","timestamp":1611571949000},"source":"Crossref","is-referenced-by-count":12,"title":["SFPQ regulates the accumulation of RNA foci and dipeptide repeat proteins from the expanded repeat mutation in <i>C9orf72<\/i>"],"prefix":"10.1242","volume":"134","author":[{"given":"Mirjana","family":"Malnar","sequence":"first","affiliation":[{"name":"Department of Biotechnology, Jo\u017eef Stefan Institute, 1000 Ljubljana, Slovenia"},{"name":"Graduate School of Biomedicine, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3898-1943","authenticated-orcid":false,"given":"Boris","family":"Rogelj","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Jo\u017eef Stefan Institute, 1000 Ljubljana, Slovenia"},{"name":"Biomedical Research Institute, 1000 Ljubljana, Slovenia"},{"name":"Faculty of Chemistry and Chemical Engineering, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2021,2,19]]},"reference":[{"key":"2021042623380818400_JCS256602C1","doi-asserted-by":"publisher","first-page":"42","DOI":"10.3389\/fnins.2020.00042","article-title":"The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia","volume":"14","author":"Abramzon","year":"2020","journal-title":"Front. 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