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An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson K, Reed X, Johnson NL, Kollasch AW, Duffy M, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Yokoyama JS, Marks DS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Among authors: qi ya. Res Sq [Preprint]. 2023 Oct 19:rs.3.rs-3462973. doi: 10.21203/rs.3.rs-3462973/v1. Res Sq. 2023. Update in: Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915 PMID: 37886540 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 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. Among authors: qi ya. 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.
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: qi ya. Nature. 2024 Jul;631(8020):E7. doi: 10.1038/s41586-024-07577-9. Nature. 2024. PMID: 38890465 Free PMC article. No abstract available.
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson KR, Reed X, Johnson NL, Kollasch AW, Duffy MF, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Marks DS, Yokoyama JS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Among authors: qi ya. Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915. Epub 2024 Jun 26. Alzheimers Dement. 2024. PMID: 38923692 Free PMC article.
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics.
Li Z, Weller CA, Shah S, Johnson N, Hao Y, Roberts J, Bereda C, Klaisner S, Machado P, Fratta P, Petrucelli L, Prudencio M, Oskarsson B, Staff NP, Dickson DW, Cookson MR, Ward ME, Singleton AB, Nalls MA, Qi YA. Li Z, et al. Among authors: qi ya. bioRxiv [Preprint]. 2023 Dec 13:2023.12.12.571327. doi: 10.1101/2023.12.12.571327. bioRxiv. 2023. Update in: Genomics Proteomics Bioinformatics. 2024 Nov 22:qzae083. doi: 10.1093/gpbjnl/qzae083 PMID: 38168437 Free PMC article. Updated. Preprint.
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Álvarez Jerez P, et al. Among authors: qi ya. Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2. Epub 2024 Dec 12. Nat Struct Mol Biol. 2024. PMID: 39668204 Free PMC article.
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics.
Li Z, Weller CA, Shah S, Johnson NL, Hao Y, Jarreau PB, Roberts J, Guha D, Bereda C, Klaisner S, Machado P, Zanovello M, Prudencio M, Oskarsson B, Staff NP, Dickson DW, Fratta P, Petrucelli L, Narayan P, Cookson MR, Ward ME, Singleton AB, Nalls MA, Qi YA. Li Z, et al. Among authors: qi ya. Genomics Proteomics Bioinformatics. 2024 Nov 22:qzae083. doi: 10.1093/gpbjnl/qzae083. Online ahead of print. Genomics Proteomics Bioinformatics. 2024. PMID: 39576693 Free article.
Gut-Brain Nexus: Mapping Multi-Modal Links to Neurodegeneration at Biobank Scale.
Shafieinouri M, Hong S, Schuh A, Makarious MB, Sandon R, Lee PS, Simmonds E, Iwaki H, Hill G, Blauwendraat C, Escott-Price V, Qi YA, Noyce AJ, Reyes-Palomares A, Leonard HL, Tansey M, Singleton A, Nalls MA, Levine KS, Bandres-Ciga S. Shafieinouri M, et al. Among authors: qi ya. medRxiv [Preprint]. 2024 Nov 6:2024.09.12.24313490. doi: 10.1101/2024.09.12.24313490. medRxiv. 2024. PMID: 39371139 Free PMC article. Preprint.
50 results