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FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Nucleic Acids Res. 2020 Jul 9;48(12):6889-6905. doi: 10.1093/nar/gkaa410.
Nucleic Acids Res. 2020.
PMID: 32479602
Free PMC article.
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.
Fratta P, et al. Among authors: ule a.
EMBO J. 2018 Jun 1;37(11):e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.
EMBO J. 2018.
PMID: 29764981
Free PMC article.
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TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P.
Sivakumar P, et al. Among authors: ule am.
Brain. 2018 Dec 1;141(12):e83. doi: 10.1093/brain/awy260.
Brain. 2018.
PMID: 30364928
No abstract available.
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FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
Birsa N, Ule AM, Garone MG, Tsang B, Mattedi F, Chong PA, Humphrey J, Jarvis S, Pisiren M, Wilkins OG, Nosella ML, Devoy A, Bodo C, de la Fuente RF, Fisher EMC, Rosa A, Viero G, Forman-Kay JD, Schiavo G, Fratta P.
Birsa N, et al. Among authors: ule am.
Sci Adv. 2021 Jul 21;7(30):eabf8660. doi: 10.1126/sciadv.abf8660. Print 2021 Jul.
Sci Adv. 2021.
PMID: 34290090
Free PMC article.
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Transcriptome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides.
Balendra R, Ruiz de Los Mozos I, Odeh HM, Glaria I, Milioto C, Wilson KM, Ule AM, Hallegger M, Masino L, Martin S, Patani R, Shorter J, Ule J, Isaacs AM.
Balendra R, et al. Among authors: ule am.
Life Sci Alliance. 2023 Jul 12;6(9):e202201824. doi: 10.26508/lsa.202201824. Print 2023 Sep.
Life Sci Alliance. 2023.
PMID: 37438085
Free PMC article.
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