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TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.
Godoy-Corchuelo JM, Ali Z, Brito Armas JM, Martins-Bach AB, García-Toledo I, Fernández-Beltrán LC, López-Carbonero JI, Bascuñana P, Spring S, Jimenez-Coca I, Muñoz de Bustillo Alfaro RA, Sánchez-Barrena MJ, Nair RR, Nieman BJ, Lerch JP, Miller KL, Ozdinler HP, Fisher EMC, Cunningham TJ, Acevedo-Arozena A, Corrochano S. Godoy-Corchuelo JM, et al. Among authors: acevedo arozena a. Neurobiol Dis. 2024 Apr;193:106437. doi: 10.1016/j.nbd.2024.106437. Epub 2024 Feb 15. Neurobiol Dis. 2024. PMID: 38367882 Free PMC article.
Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models.
Devoy A, Price G, De Giorgio F, Bunton-Stasyshyn R, Thompson D, Gasco S, Allan A, Codner GF, Nair RR, Tibbit C, McLeod R, Ali Z, Noda J, Marrero-Gagliardi A, Brito-Armas JM, Williams C, Öztürk MM, Simon M, O'Neill E, Bryce-Smith S, Harrison J, Atkins G, Corrochano S, Stewart M, Gilthorpe JD, Teboul L, Acevedo-Arozena A, Fisher EMC, Cunningham TJ. Devoy A, et al. Among authors: acevedo arozena a. iScience. 2021 Nov 15;24(12):103463. doi: 10.1016/j.isci.2021.103463. eCollection 2021 Dec 17. iScience. 2021. PMID: 34988393 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. 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.
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. Brain. 2018 Dec 1;141(12):e83. doi: 10.1093/brain/awy260. Brain. 2018. PMID: 30364928 No abstract available.
Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities.
Stewart M, Lau P, Banks G, Bains RS, Castroflorio E, Oliver PL, Dixon CL, Kruer MC, Kullmann DM, Acevedo-Arozena A, Wells SE, Corrochano S, Nolan PM. Stewart M, et al. Among authors: acevedo arozena a. Dis Model Mech. 2019 Feb 22;12(2):dmm036806. doi: 10.1242/dmm.036806. Dis Model Mech. 2019. PMID: 30692144 Free PMC article.
38 results