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A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS-FTD.
Irwin KE, Jasin P, Braunstein KE, Sinha IR, Garret MA, Bowden KD, Chang K, Troncoso JC, Moghekar A, Oh ES, Raitcheva D, Bartlett D, Miller T, Berry JD, Traynor BJ, Ling JP, Wong PC. Irwin KE, et al. Among authors: troncoso jc. Nat Med. 2024 Feb;30(2):382-393. doi: 10.1038/s41591-023-02788-5. Epub 2024 Jan 26. Nat Med. 2024. PMID: 38278991 Free PMC article.
Elevated nuclear TDP-43 induces constitutive exon skipping.
Carmen-Orozco RP, Tsao W, Ye Y, Sinha IR, Chang K, Trinh V, Chung W, Bowden K, Troncoso JC, Blackshaw S, Hayes LR, Sun S, Wong PC, Ling JP. Carmen-Orozco RP, et al. Among authors: troncoso jc. bioRxiv [Preprint]. 2023 May 12:2023.05.11.540291. doi: 10.1101/2023.05.11.540291. bioRxiv. 2023. Update in: Mol Neurodegener. 2024 Jun 9;19(1):45. doi: 10.1186/s13024-024-00732-w PMID: 37215013 Free PMC article. Updated. Preprint.
Loss of TDP-43 splicing repression occurs early in the aging population and is associated with Alzheimer's disease neuropathologic changes and cognitive decline.
Chang K, Ling JP, Redding-Ochoa J, An Y, Li L, Dean SA, Blanchard TG, Pylyukh T, Barrett A, Irwin KE, Moghekar A, Resnick SM, Wong PC, Troncoso JC. Chang K, et al. Among authors: troncoso jc. Acta Neuropathol. 2023 Dec 22;147(1):4. doi: 10.1007/s00401-023-02653-2. Acta Neuropathol. 2023. PMID: 38133681
Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies.
Reho P, Saez-Atienzar S, Ruffo P, Solaiman S, Shah Z, Chia R, Kaivola K, Traynor BJ, Tilley BS, Gentleman SM, Hodges AK, Aarsland D, Monuki ES, Newell KL, Woltjer R, Albert MS, Dawson TM, Rosenthal LS, Troncoso JC, Pletnikova O, Serrano GE, Beach TG, Easwaran HP, Scholz SW. Reho P, et al. Among authors: troncoso jc. Commun Biol. 2024 Jan 5;7(1):35. doi: 10.1038/s42003-023-05725-x. Commun Biol. 2024. PMID: 38182665 Free PMC article.
Plasma p-tau212 antemortem diagnostic performance and prediction of autopsy verification of Alzheimer's disease neuropathology.
Kac PR, González-Ortiz F, Emeršič A, Dulewicz M, Koutarapu S, Turton M, An Y, Smirnov D, Kulczyńska-Przybik A, Varma VR, Ashton NJ, Montoliu-Gaya L, Camporesi E, Winkel I, Paradowski B, Moghekar A, Troncoso JC, Lashley T, Brinkmalm G, Resnick SM, Mroczko B, Kvartsberg H, Gregorič Kramberger M, Hanrieder J, Čučnik S, Harrison P, Zetterberg H, Lewczuk P, Thambisetty M, Rot U, Galasko D, Blennow K, Karikari TK. Kac PR, et al. Among authors: troncoso jc. Nat Commun. 2024 Mar 23;15(1):2615. doi: 10.1038/s41467-024-46876-7. Nat Commun. 2024. PMID: 38521766 Free PMC article.
Author Correction: A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS-FTD.
Irwin KE, Jasin P, Braunstein KE, Sinha IR, Garret MA, Bowden KD, Chang K, Troncoso JC, Moghekar A, Oh ES, Raitcheva D, Bartlett D, Miller T, Berry JD, Traynor BJ, Ling JP, Wong PC. Irwin KE, et al. Among authors: troncoso jc. Nat Med. 2024 May;30(5):1504. doi: 10.1038/s41591-024-02966-z. Nat Med. 2024. PMID: 38580817 Free PMC article. No abstract available.
Elevated nuclear TDP-43 induces constitutive exon skipping.
Carmen-Orozco RP, Tsao W, Ye Y, Sinha IR, Chang K, Trinh VT, Chung W, Bowden K, Troncoso JC, Blackshaw S, Hayes LR, Sun S, Wong PC, Ling JP. Carmen-Orozco RP, et al. Among authors: troncoso jc. Mol Neurodegener. 2024 Jun 9;19(1):45. doi: 10.1186/s13024-024-00732-w. Mol Neurodegener. 2024. PMID: 38853250 Free PMC article.
Disruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS.
Wu R, Ye Y, Dong D, Zhang Z, Wang S, Li Y, Wright N, Redding-Ochoa J, Chang K, Xu S, Tu X, Zhu C, Ostrow LW, Roca X, Troncoso JC, Wu B, Sun S. Wu R, et al. Among authors: troncoso jc. Neuron. 2024 Oct 23;112(20):3434-3451.e11. doi: 10.1016/j.neuron.2024.07.025. Epub 2024 Aug 23. Neuron. 2024. PMID: 39181135
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass JD, Land… See abstract for full author list ➔ Saez-Atienzar S, et al. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 Free PMC article.
348 results