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Author Correction: 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. Among authors: seddighi s. Nature. 2024 Jul;631(8020):E7. doi: 10.1038/s41586-024-07577-9. Nature. 2024. PMID: 38890465 Free PMC article. No abstract available.
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.
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.
FTLD targets brain regions expressing recently evolved genes.
Pasquini L, Pereira FL, Seddighi S, Zeng Y, Wei Y, Illán-Gala I, Vatsavayai SC, Friedberg A, Lee AJ, Brown JA, Spina S, Grinberg LT, Sirkis DW, Bonham LW, Yokoyama JS, Boxer AL, Kramer JH, Rosen HJ, Humphrey J, Gitler AD, Miller BL, Pollard KS, Ward ME, Seeley WW. Pasquini L, et al. Among authors: seddighi s. medRxiv [Preprint]. 2023 Oct 28:2023.10.27.23297687. doi: 10.1101/2023.10.27.23297687. medRxiv. 2023. Update in: Brain. 2024 Sep 3;147(9):3032-3047. doi: 10.1093/brain/awae205 PMID: 37961381 Free PMC article. Updated. Preprint.
Frontotemporal lobar degeneration targets brain regions linked to expression of recently evolved genes.
Pasquini L, Pereira FL, Seddighi S, Zeng Y, Wei Y, Illán-Gala I, Vatsavayai SC, Friedberg A, Lee AJ, Brown JA, Spina S, Grinberg LT, Sirkis DW, Bonham LW, Yokoyama JS, Boxer AL, Kramer JH, Rosen HJ, Humphrey J, Gitler AD, Miller BL, Pollard KS, Ward ME, Seeley WW. Pasquini L, et al. Among authors: seddighi s. Brain. 2024 Sep 3;147(9):3032-3047. doi: 10.1093/brain/awae205. Brain. 2024. PMID: 38940350 Free PMC article.
Magnetic resonance spectroscopy findings of brain olfactory areas in patients with COVID-19-related anosmia: A preliminary comparative study.
Nemati S, Haghani Dogahe M, Saberi A, Ramezani N, Kiani P, Yaghubi Kalurazi T, Kazemnejad Leili E, Seddighi S, Monsef A. Nemati S, et al. Among authors: seddighi s. World J Otorhinolaryngol Head Neck Surg. 2023 Aug 28;10(2):105-112. doi: 10.1002/wjo2.132. eCollection 2024 Jun. World J Otorhinolaryngol Head Neck Surg. 2023. PMID: 38855283 Free PMC article.
Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders.
Diaz-Torres S, He W, Thorp J, Seddighi S, Mullany S; IGGC International Glaucoma Genetics Consortium; Hammond CJ, Hysi PG, Pasquale LR, Khawaja AP, Hewitt AW, Craig JE, Mackey DA, Wiggs JL, van Duijn C, Lupton MK, Ong JS, MacGregor S, Gharahkhani P. Diaz-Torres S, et al. Among authors: seddighi s. EBioMedicine. 2023 Jun;92:104615. doi: 10.1016/j.ebiom.2023.104615. Epub 2023 May 16. EBioMedicine. 2023. PMID: 37201334 Free PMC article.
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. Among authors: seddighi s. 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.
28 results