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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. Ervilha Pereira P, et al. Among authors: copley ke. Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31. Acta Neuropathol. 2023. PMID: 37000196 Free PMC article.
RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43.
Mann JR, Gleixner AM, Mauna JC, Gomes E, DeChellis-Marks MR, Needham PG, Copley KE, Hurtle B, Portz B, Pyles NJ, Guo L, Calder CB, Wills ZP, Pandey UB, Kofler JK, Brodsky JL, Thathiah A, Shorter J, Donnelly CJ. Mann JR, et al. Among authors: copley ke. Neuron. 2019 Apr 17;102(2):321-338.e8. doi: 10.1016/j.neuron.2019.01.048. Epub 2019 Feb 27. Neuron. 2019. PMID: 30826182 Free PMC article.
TDP-43 condensation properties specify its RNA-binding and regulatory repertoire.
Hallegger M, Chakrabarti AM, Lee FCY, Lee BL, Amalietti AG, Odeh HM, Copley KE, Rubien JD, Portz B, Kuret K, Huppertz I, Rau F, Patani R, Fawzi NL, Shorter J, Luscombe NM, Ule J. Hallegger M, et al. Among authors: copley ke. Cell. 2021 Sep 2;184(18):4680-4696.e22. doi: 10.1016/j.cell.2021.07.018. Epub 2021 Aug 10. Cell. 2021. PMID: 34380047 Free PMC article.
Repetitive elements in aging and neurodegeneration.
Copley KE, Shorter J. Copley KE, et al. Trends Genet. 2023 May;39(5):381-400. doi: 10.1016/j.tig.2023.02.008. Epub 2023 Mar 17. Trends Genet. 2023. PMID: 36935218 Free PMC article. Review.
CRISPR screen for protein inclusion formation uncovers a role for SRRD in the regulation of intermediate filament dynamics and aggresome assembly.
Sweeney KM, Chantarawong S, Barbieri EM, Cajka G, Liu M, Spruce L, Fazelinia H, Portz B, Copley K, Lapidot T, Duhamel L, Greenwald P, Saida N, Shalgi R, Shorter J, Shalem O. Sweeney KM, et al. PLoS Genet. 2024 Feb 5;20(2):e1011138. doi: 10.1371/journal.pgen.1011138. eCollection 2024 Feb. PLoS Genet. 2024. PMID: 38315730 Free PMC article.
Defining RNA oligonucleotides that reverse deleterious phase transitions of RNA-binding proteins with prion-like domains.
Guo L, Mann JR, Mauna JC, Copley KE, Wang H, Rubien JD, Odeh HM, Lin J, Lee BL, Ganser L, Robinson E, Kim KM, Murthy AC, Paul T, Portz B, Gleixner AM, Diaz Z, Carey JL, Smirnov A, Padilla G, Lavorando E, Espy C, Shang Y, Huang EJ, Chesi A, Fawzi NL, Myong S, Donnelly CJ, Shorter J. Guo L, et al. Among authors: copley ke. bioRxiv [Preprint]. 2023 Sep 4:2023.09.04.555754. doi: 10.1101/2023.09.04.555754. bioRxiv. 2023. PMID: 37732211 Free PMC article. Preprint.
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: copley ke. Nat Commun. 2022 Jun 13;13(1):3380. doi: 10.1038/s41467-022-31098-6. Nat Commun. 2022. PMID: 35697676 Free PMC article.