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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.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 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.
Diagnostic Value of Cerebrospinal Fluid Neurofilament Light Protein in Neurology: A Systematic Review and Meta-analysis.
Bridel C, van Wieringen WN, Zetterberg H, Tijms BM, Teunissen CE; and the NFL Group; Alvarez-Cermeño JC, Andreasson U, Axelsson M, Bäckström DC, Bartos A, Bjerke M, Blennow K, Boxer A, Brundin L, Burman J, Christensen T, Fialová L, Forsgren L, Frederiksen JL, Gisslén M, Gray E, Gunnarsson M, Hall S, Hansson O, Herbert MK, Jakobsson J, Jessen-Krut J, Janelidze S, Johannsson G, Jonsson M, Kappos L, Khademi M, Khalil M, Kuhle J, Landén M, Leinonen V, Logroscino G, Lu CH, Lycke J, Magdalinou NK, Malaspina A, Mattsson N, Meeter LH, Mehta SR, Modvig S, Olsson T, Paterson RW, Pérez-Santiago J, Piehl F, Pijnenburg YAL, Pyykkö OT, Ragnarsson O, Rojas JC, Romme Christensen J, Sandberg L, Scherling CS, Schott JM, Sellebjerg FT, Simone IL, Skillbäck T, Stilund M, Sundström P, Svenningsson A, Tortelli R, Tortorella C, Trentini A, Troiano M, Turner MR, van Swieten JC, Vågberg M, Verbeek MM, Villar LM, Visser PJ, Wallin A, Weiss A, Wikkelsø C, Wild EJ. Bridel C, et al. JAMA Neurol. 2019 Sep 1;76(9):1035-1048. doi: 10.1001/jamaneurol.2019.1534. JAMA Neurol. 2019. PMID: 31206160 Free PMC article.
Opinion: more mouse models and more translation needed for ALS.
Fisher EMC, Greensmith L, Malaspina A, Fratta P, Hanna MG, Schiavo G, Isaacs AM, Orrell RW, Cunningham TJ, Arozena AA. Fisher EMC, et al. Mol Neurodegener. 2023 May 4;18(1):30. doi: 10.1186/s13024-023-00619-2. Mol Neurodegener. 2023. PMID: 37143081 Free PMC article. Review.
Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity.
Klickovic U, Zampedri L, Sinclair CDJ, Wastling SJ, Trimmel K, Howard RS, Malaspina A, Sharma N, Sidle K, Emira A, Shah S, Yousry TA, Hanna MG, Greensmith L, Morrow JM, Thornton JS, Fratta P. Klickovic U, et al. Neurology. 2019 Aug 27;93(9):e895-e907. doi: 10.1212/WNL.0000000000008009. Epub 2019 Aug 7. Neurology. 2019. PMID: 31391248 Free PMC article.
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease.
Šušnjar U, Škrabar N, Brown AL, Abbassi Y, Phatnani H; NYGC ALS Consortium; Cortese A, Cereda C, Bugiardini E, Cardani R, Meola G, Ripolone M, Moggio M, Romano M, Secrier M, Fratta P, Buratti E. Šušnjar U, et al. Commun Biol. 2022 Apr 5;5(1):314. doi: 10.1038/s42003-022-03253-8. Commun Biol. 2022. PMID: 35383280 Free PMC article.
45 results