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Previously, we identified serum microRNAs downregulated in familial ALS, the majority of sporadic ALS patients, but also in presymptomatic mutation carriers. A 5-nucleotide sequence motif (GDCGG; D\u2009=\u2009G, A or U) was strongly enriched in these ALS-related microRNAs. We hypothesized that deregulation of protein(s) binding predominantly to this consensus motif was responsible for the ALS-linked microRNA fingerprint. Using microRNA pull-down assays combined with mass spectrometry followed by extensive biochemical validation, all members of the fragile X protein family, FMR1, FXR1 and FXR2, were identified to directly and predominantly interact with GDCGG microRNAs through their structurally disordered RGG\/RG domains. Preferential association of this protein family with ALS-related microRNAs was confirmed by in vitro binding studies on a transcriptome-wide scale. Immunohistochemistry of lumbar spinal cord revealed aberrant expression level and aggregation of FXR1 and FXR2 in C9orf72- and FUS-linked familial ALS, but also patients with sporadic ALS. Further analysis of ALS autopsies and induced pluripotent stem cell-derived motor neurons with FUS mutations showed co-aggregation of FXR1 with FUS. Hence, our translational approach was able to take advantage of blood microRNAs to reveal CNS pathology, and suggests an involvement of the fragile X-related proteins in familial and sporadic ALS already at a presymptomatic stage. The findings may uncover disease mechanisms relevant to many patients with ALS. They furthermore underscore the systemic, extra-CNS aspect of ALS.<\/jats:p>","DOI":"10.1093\/brain\/awab018","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T17:57:28Z","timestamp":1611856648000},"page":"1214-1229","source":"Crossref","is-referenced-by-count":17,"title":["A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis"],"prefix":"10.1093","volume":"144","author":[{"given":"Axel","family":"Freischmidt","sequence":"first","affiliation":[{"name":"Department of Neurology, Ulm University, Ulm, Germany"},{"name":"German Center For Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Goswami","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Aronica","sequence":"additional","affiliation":[{"name":"Amsterdam UMC, University of Amsterdam, Department of (Neuro)Pathology, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert C","family":"Ludolph","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ulm University, Ulm, Germany"},{"name":"German Center For Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0094-5429","authenticated-orcid":false,"given":"Peter M","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Science, Neurosciences, Ume\u00e5 University, Ume\u00e5, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hermann","sequence":"additional","affiliation":[{"name":"Department of Neurology, Technical University Dresden, Dresden, Germany"},{"name":"Translational Neurodegeneration Section \u201cAlbrecht-Kossel\u201d, Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany"},{"name":"Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE) Rostock\/Greifswald, Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, 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