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2022 8
2023 13
2024 4

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24 results

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Page 1
TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD.
Bryce-Smith S, Brown AL, Mehta PR, Mattedi F, Mikheenko A, Barattucci S, Zanovello M, Dattilo D, Yome M, Hill SE, Qi YA, Wilkins OG, Sun K, Ryadnov E, Wan Y; NYGC ALS Consortium; Vargas JNS, Birsa N, Raj T, Humphrey J, Keuss M, Ward M, Secrier M, Fratta P. Bryce-Smith S, et al. bioRxiv [Preprint]. 2024 Jan 23:2024.01.22.576625. doi: 10.1101/2024.01.22.576625. bioRxiv. 2024. PMID: 38313254 Free PMC article. Preprint.
TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.
Marks JD, Ayuso VE, Carlomagno Y, Yue M, Todd TW, Hao Y, Li Z, McEachin ZT, Shantaraman A, Duong DM, Daughrity LM, Jansen-West K, Shao W, Calliari A, Bejarano JG, DeTure M, Rawlinson B, Casey MC, Lilley MT, Donahue MH, Jawahar VM, Boeve BF, Petersen RC, Knopman DS, Oskarsson B, Graff-Radford NR, Wszolek ZK, Dickson DW, Josephs KA, Qi YA, Seyfried NT, Ward ME, Zhang YJ, Prudencio M, Petrucelli L, Cook CN. Marks JD, et al. Sci Transl Med. 2024 Jan 17;16(730):eadf9735. doi: 10.1126/scitranslmed.adf9735. Epub 2024 Jan 17. Sci Transl Med. 2024. PMID: 38232138 Free PMC article.
Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing.
Humphrey J, Brophy E, Kosoy R, Zeng B, Coccia E, Mattei D, Ravi A, Efthymiou AG, Navarro E, Muller BZ, Snijders GJ, Allan A, Münch A, Kitata RB, Kleopoulos SP, Argyriou S, Shao Z, Francoeur N, Tsai CF, Gritsenko MA, Monroe ME, Paurus VL, Weitz KK, Shi T, Sebra R, Liu T, de Witte LD, Goate AM, Bennett DA, Haroutunian V, Hoffman GE, Fullard JF, Roussos P, Raj T. Humphrey J, et al. medRxiv [Preprint]. 2023 Dec 1:2023.12.01.23299073. doi: 10.1101/2023.12.01.23299073. medRxiv. 2023. PMID: 38076956 Free PMC article. Preprint.
Creation of de novo cryptic splicing for ALS/FTD precision medicine.
Wilkins OG, Chien MZYJ, Wlaschin JJ, Pisliakova M, Thompson D, Digby H, Simkin RL, Diaz JA, Mehta PR, Keuss MJ, Zanovello M, Brown AL, Harley P, Darbey A, Karda R, Fisher EMC, Cunningham TJ, Le Pichon CE, Ule J, Fratta P. Wilkins OG, et al. bioRxiv [Preprint]. 2023 Nov 15:2023.11.15.565967. doi: 10.1101/2023.11.15.565967. bioRxiv. 2023. PMID: 38014203 Free PMC article. Preprint.
The endolysosomal pathway and ALS/FTD.
Todd TW, Shao W, Zhang YJ, Petrucelli L. Todd TW, et al. Trends Neurosci. 2023 Dec;46(12):1025-1041. doi: 10.1016/j.tins.2023.09.004. Epub 2023 Oct 10. Trends Neurosci. 2023. PMID: 37827960 Review.
Artificial intelligence for dementia genetics and omics.
Bettencourt C, Skene N, Bandres-Ciga S, Anderson E, Winchester LM, Foote IF, Schwartzentruber J, Botia JA, Nalls M, Singleton A, Schilder BM, Humphrey J, Marzi SJ, Toomey CE, Kleifat AA, Harshfield EL, Garfield V, Sandor C, Keat S, Tamburin S, Frigerio CS, Lourida I; Deep Dementia Phenotyping (DEMON) Network; Ranson JM, Llewellyn DJ. Bettencourt C, et al. Alzheimers Dement. 2023 Dec;19(12):5905-5921. doi: 10.1002/alz.13427. Epub 2023 Aug 22. Alzheimers Dement. 2023. PMID: 37606627 Review.
TDP-43-regulated cryptic RNAs accumulate in Alzheimer's disease brains.
Estades Ayuso V, Pickles S, Todd T, Yue M, Jansen-West K, Song Y, González Bejarano J, Rawlinson B, DeTure M, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Josephs KA, Petrucelli L, Prudencio M. Estades Ayuso V, et al. Mol Neurodegener. 2023 Aug 21;18(1):57. doi: 10.1186/s13024-023-00646-z. Mol Neurodegener. 2023. PMID: 37605276 Free PMC article.
Poly(GR) interacts with key stress granule factors promoting its assembly into cytoplasmic inclusions.
Park J, Wu Y, Shao W, Gendron TF, van der Spek SJF, Sultanakhmetov G, Basu A, Castellanos Otero P, Jones CJ, Jansen-West K, Daughrity LM, Phanse S, Del Rosso G, Tong J, Castanedes-Casey M, Jiang L, Libera J, Oskarsson B, Dickson DW, Sanders DW, Brangwynne CP, Emili A, Wolozin B, Petrucelli L, Zhang YJ. Park J, et al. Cell Rep. 2023 Aug 29;42(8):112822. doi: 10.1016/j.celrep.2023.112822. Epub 2023 Jul 19. Cell Rep. 2023. PMID: 37471224 Free PMC article.
24 results