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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: de giorgio f. Brain. 2018 Dec 1;141(12):e83. doi: 10.1093/brain/awy260. Brain. 2018. PMID: 30364928 No abstract available.
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: de giorgio f. 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.
Erratum: 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: de giorgio f. iScience. 2022 Mar 12;25(4):103999. doi: 10.1016/j.isci.2022.103999. eCollection 2022 Apr 15. iScience. 2022. PMID: 35296030 Free PMC article.
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.
Bertino F, Mukherjee D, Bonora M, Bagowski C, Nardelli J, Metani L, Zanin Venturini DI, Chianese D, Santander N, Salaroglio IC, Hentschel A, Quarta E, Genova T, McKinney AA, Allocco AL, Fiorito V, Petrillo S, Ammirata G, De Giorgio F, Dennis E, Allington G, Maier F, Shoukier M, Gloning KP, Munaron L, Mussano F, Salsano E, Pareyson D, di Rocco M, Altruda F, Panagiotakos G, Kahle KT, Gressens P, Riganti C, Pinton PP, Roos A, Arnold T, Tolosano E, Chiabrando D. Bertino F, et al. Among authors: de giorgio f. Cell Rep Med. 2024 Jul 16;5(7):101647. doi: 10.1016/j.xcrm.2024.101647. Cell Rep Med. 2024. PMID: 39019006 Free PMC article.
205 results