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2022 9
2023 13
2024 12

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33 results

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Page 1
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F, Briner A, Rodriguez CM, Guo C, Akiyama T, Schmidt HB, Cummings BB, Wyatt DW, Kurylo K, Miller G, Mekhoubad S, Sallee N, Mekonnen G, Ganser L, Rubien JD, Jansen-West K, Cook CN, Pickles S, Oskarsson B, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Shorter J, Myong S, Green EM, Seeley WW, Petrucelli L, Gitler AD. Ma XR, et al. Nature. 2022 Mar;603(7899):124-130. doi: 10.1038/s41586-022-04424-7. Epub 2022 Feb 23. Nature. 2022. PMID: 35197626 Free PMC article.
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.
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang Y, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Kelmer Sacramento E, Shah SI, Nalls MA, Colon-Mercado J, Reyes JF, Ryan VH, Nelson MP, Cook C, Li Z, Screven L, Kwan JY, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff N, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Rohrer J, Malaspina A, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. bioRxiv [Preprint]. 2023 Jan 23:2023.01.23.525149. doi: 10.1101/2023.01.23.525149. bioRxiv. 2023. Update in: Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. PMID: 36747793 Free PMC article. Updated. Preprint.
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.
Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration.
Shao W, Todd TW, Wu Y, Jones CY, Tong J, Jansen-West K, Daughrity LM, Park J, Koike Y, Kurti A, Yue M, Castanedes-Casey M, Del Rosso G, Dunmore JA, Zanetti Alepuz D, Oskarsson B, Dickson DW, Cook CN, Prudencio M, Gendron TF, Fryer JD, Zhang YJ, Petrucelli L. Shao W, et al. Science. 2022 Oct 7;378(6615):94-99. doi: 10.1126/science.abq7860. Epub 2022 Oct 6. Science. 2022. PMID: 36201573 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.
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang YJ, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Kargbo-Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Sacramento EK, Shah SI, Nalls MA, Colón-Mercado JM, Reyes JF, Ryan VH, Nelson MP, Cook CN, Li Z, Screven L, Kwan JY, Mehta PR, Zanovello M, Hallegger M, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff NP, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Reich DS, Rohrer JD, Malaspina A, Dickson DW, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. Epub 2024 Feb 14. Sci Transl Med. 2024. PMID: 38277467 Free PMC article.
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.
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
Humphrey J, Venkatesh S, Hasan R, Herb JT, de Paiva Lopes K, Küçükali F, Byrska-Bishop M, Evani US, Narzisi G, Fagegaltier D; NYGC ALS Consortium; Sleegers K, Phatnani H, Knowles DA, Fratta P, Raj T. Humphrey J, et al. Nat Neurosci. 2023 Jan;26(1):150-162. doi: 10.1038/s41593-022-01205-3. Epub 2022 Dec 8. Nat Neurosci. 2023. PMID: 36482247
33 results