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Proposed mechanisms involve gain-of-functions, comprising RNA and protein toxicity, and loss-of-function of the\n                    <jats:italic>C9orf72<\/jats:italic>\n                    gene. Their exact contribution is still inconclusive and reports regarding loss-of-function are rather inconsistent. Here, we review the function of the C9orf72 protein and its relevance in disease. We explore the potential link between reduced C9orf72 levels and disease phenotypes in postmortem, in vitro, and in vivo models. Moreover, the significance of loss-of-function in other non-coding repeat expansion diseases is used to clarify its contribution in\n                    <jats:italic>C9orf72<\/jats:italic>\n                    ALS\/FTD. In conclusion, with evidence pointing to a multiple-hit model, loss-of-function on itself seems to be insufficient to cause neurodegeneration in\n                    <jats:italic>C9orf72<\/jats:italic>\n                    ALS\/FTD.\n                  <\/jats:p>","DOI":"10.1007\/s00401-020-02214-x","type":"journal-article","created":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T06:02:59Z","timestamp":1599026579000},"page":"625-643","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":74,"title":["C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS\/FTD?"],"prefix":"10.1007","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6158-9208","authenticated-orcid":false,"given":"Elke","family":"Braems","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Swinnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludo","family":"Van Den Bosch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,9,2]]},"reference":[{"key":"2214_CR1","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1016\/j.stemcr.2020.01.010","volume":"14","author":"M Abo-Rady","year":"2020","unstructured":"Abo-Rady M, Kalmbach N, Pal A, Schludi C, Janosch A, Richter T et al (2020) Knocking out C9ORF72 exacerbates axonal trafficking defects associated with hexanucleotide repeat expansion and reduces levels of heat shock proteins. 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