RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS

Spence, HollyWaldron, FergalSaleeb, Rebecca SBrown, Anna-LeighRifai, Olivia MGilodi, MartinaRead, FionaNellany, KristineMilne, GillianWilkinson, DebbieO'shaughnessy, JudiPastore, AnnalisaFratta, PietroShneider, NeilTartaglia, Gian GaetanoZacco, ElsaHorrocks, Mathew HGregory, Jenna2024-03-152024-03-152024-06Spence, H, Waldron, F, Saleeb, R S, Brown, A-L, Rifai, O M, Gilodi, M, Read, F, Nellany, K, Milne, G, Wilkinson, D, O'shaughnessy, J, Pastore, A, Fratta, P, Shneider, N, Tartaglia, G G, Zacco, E, Horrocks, M H & Gregory, J 2024, 'RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS', Acta Neuropathologica, vol. 147, 50. https://doi.org/10.1007/s00401-024-02705-10001-6322ORCID: /0000-0002-1628-6790/work/155729049ORCID: /0000-0003-2622-0776/work/155729472ORCID: /0000-0003-0237-3807/work/155729642ORCID: /0000-0003-3337-4079/work/155730368ORCID: /0000-0003-1153-2646/work/155730676https://hdl.handle.net/2164/23029Open Access via the Springer Agreement The research leading to this manuscript has been supported by (i) a Target ALS foundation grant to JMG, MHH, GGT, EZ and NS and employing MG and FMW BB-2022-C4-L2; (ii) an NIH grant to JG and MHH, employing HS and FR R01NS127186; (iii) the European Research Council (RIBOMYLOME_309545 and ASTRA_855923) to GGT; and (iv) an MND Association Lady Edith Wolfson Junior Non-Clinical Fellowship to RS Saleeb/Oct22/980-799 (RSS). The authors would also like to thank the University of Aberdeen Microscopy and Histology Core Facility in the Institute of Medical Sciences.1516933792engAcademic.SDG 3 - Good Health and Well-being2040 Health, Nutrition and WellbeingAmyotrophic lateral sclerosisCognitionCryptic splicingLoss-of-functionNeuropathologyRNA aptamerStathmin-2TDP-43HumansAntibodiesAmyotrophic Lateral Sclerosis/geneticsRNA SplicingAptamers, NucleotideDNA-Binding Proteins/geneticsR MedicineClinical NeurologyCellular and Molecular NeurosciencePathology and Forensic MedicineRRNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALSJournal article10.1007/s00401-024-02705-1http://www.scopus.com/inward/record.url?scp=85186594907&partnerID=8YFLogxKhttps://doi.org/10.1101/2023.10.24.563701147