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Page 1
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, Rosa A, Bozzoni I, Fisher EMC, Mühlemann O, Schiavo G, Ruepp MD, Isaacs AM, Plagnol V, Fratta P. Humphrey J, et al. Nucleic Acids Res. 2020 Jul 9;48(12):6889-6905. doi: 10.1093/nar/gkaa410. Nucleic Acids Res. 2020. PMID: 32479602 Free PMC article.
Relax, Don't RAN Translate It.
Wilson KM, Muralidharan B, Isaacs AM. Wilson KM, et al. Neuron. 2019 Dec 4;104(5):827-829. doi: 10.1016/j.neuron.2019.11.014. Neuron. 2019. PMID: 31805259 Free article.
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats.
Yamada SB, Gendron TF, Niccoli T, Genuth NR, Grosely R, Shi Y, Glaria I, Kramer NJ, Nakayama L, Fang S, Dinger TJI, Thoeng A, Rocha G, Barna M, Puglisi JD, Partridge L, Ichida JK, Isaacs AM, Petrucelli L, Gitler AD. Yamada SB, et al. Nat Neurosci. 2019 Sep;22(9):1383-1388. doi: 10.1038/s41593-019-0455-7. Epub 2019 Jul 29. Nat Neurosci. 2019. PMID: 31358992 Free PMC article.
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, Greensmith L, Acevedo Arozena A, Isaacs AM, Davies B, Fratta P, Fisher EMC. Devoy A, et al. Brain. 2017 Nov 1;140(11):2797-2805. doi: 10.1093/brain/awx248. Brain. 2017. PMID: 29053787 Free PMC article.