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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Zhang K, Donnelly CJ, Haeusler AR, Grima JC, Machamer JB, Steinwald P, Daley EL, Miller SJ, Cunningham KM, Vidensky S, Gupta S, Thomas MA, Hong I, Chiu SL, Huganir RL, Ostrow LW, Matunis MJ, Wang J, Sattler R, Lloyd TE, Rothstein JD. Zhang K, et al. Among authors: daley el. Nature. 2015 Sep 3;525(7567):56-61. doi: 10.1038/nature14973. Epub 2015 Aug 26. Nature. 2015. PMID: 26308891 Free PMC article.
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.
Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD. Donnelly CJ, et al. Among authors: daley el. Neuron. 2013 Oct 16;80(2):415-28. doi: 10.1016/j.neuron.2013.10.015. Neuron. 2013. PMID: 24139042 Free PMC article.
NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility.
Gleixner AM, Verdone BM, Otte CG, Anderson EN, Ramesh N, Shapiro OR, Gale JR, Mauna JC, Mann JR, Copley KE, Daley EL, Ortega JA, Cicardi ME, Kiskinis E, Kofler J, Pandey UB, Trotti D, Donnelly CJ. Gleixner AM, et al. Among authors: daley el. Nat Commun. 2022 Jun 13;13(1):3380. doi: 10.1038/s41467-022-31098-6. Nat Commun. 2022. PMID: 35697676 Free PMC article.
Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity.
Ortega JA, Daley EL, Kour S, Samani M, Tellez L, Smith HS, Hall EA, Esengul YT, Tsai YH, Gendron TF, Donnelly CJ, Siddique T, Savas JN, Pandey UB, Kiskinis E. Ortega JA, et al. Among authors: daley el. Neuron. 2020 Apr 8;106(1):90-107.e13. doi: 10.1016/j.neuron.2020.01.020. Epub 2020 Feb 13. Neuron. 2020. PMID: 32059759 Free PMC article.
19 results