Publications

  1. Albagli EA, Calliari A, Gendron TF, Zhang YJ. HDGFL2 cryptic protein: a portal to detection and diagnosis in neurodegenerative disease. Mol Neurodegener. 2024 Oct 25; 19 (1):79
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  2. Vandebergh M, Ramos EM, Corriveau-Lecavalier N, Ramanan VK, Kornak J, Mester C, Kolander T, Brushaber DE, Staffaroni AM, Geschwind DH, Wolf AA, Kantarci K, Gendron T, Petrucelli L, Van den Broeck M, Wynants S, Baker M, Borrego-Ecija S, Appleby B, Barmada S, Bozoki AC, Clark D, Darby RR, Dickerson BC, Domoto-Reilly K, Fields JA, Galasko D, Ghoshal N, Graff-Radford NR, Grant IM, Honig LS, Hsiung GR, Huey ED, Irwin DJ, Knopman DS, Kwan JY, Leger GC, Litvan I, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Pressman PS, Ritter A, Roberson ED, Snyder A, Sullivan AC, Tartaglia MC, Wint D, Heuer HW, Forsberg LK, Boxer AL, Rosen HJ, Boeve BF, Rademakers R, ALLFTD Consortium. Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration. Neurology. 2024 Oct 22; 103 (8):e209832 Epub 2024 Sept 25
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  3. Babu S, Nicholson KA, Rothstein JD, Swenson A, Sampognaro PJ, Pant P, Macklin EA, Spruill S, Paganoni S, Gendron TF, Prudencio M, Petrucelli L, Nix D, Landrette S, Nkrumah E, Fandrick K, Edwards J, Young PR. Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial. Brain. 2024 Sep 3; 147 (9):2998-3008
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  4. Udine E, DeJesus-Hernandez M, Tian S, das Neves SP, Crook R, Finch NA, Baker MC, Pottier C, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Oskarsson B, Da Mesquita S, Petrucelli L, Gendron TF, Dickson DW, Rademakers R, van Blitterswijk M. Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion. Acta Neuropathol. 2024 Apr 19; 147 (1):73
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  5. Brushaber D, Dickson D, Gavrilova R, Gendron T, Goldman J, Graff-Radford J, Huang E, Johnson N, Kantarci K, Knopman D, Petrucelli L, Rademakers R, Savica R, Tipton PW, Wszolek ZK, Botha H, Staffaroni AM, Clark AL, Taylor JC, Heuer HW, Sanderson-Cimino M, Wise AB, Dhanam S, Cobigo Y, Wolf A, Manoochehri M, Forsberg L, Mester C, Rankin KP, Appleby BS, Bayram E, Bozoki A, Clark D, Darby RR, Domoto-Reilly K, Fields JA, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Grossman M, Hsiung GY, Huey ED, Jones DT, Lapid MI, Litvan I, Masdeu JC, Massimo L, Mendez MF, Miyagawa T, Pascual B, Pressman P, Ramanan VK, Ramos EM, Rascovsky K, Roberson ED, Tartaglia MC, Wong B, Miller BL, Kornak J, Kremers W, Hassenstab J, Kramer JH, Boeve BF, Rosen HJ, Boxer AL, ALLFTD Consortium. Reliability and Validity of Smartphone Cognitive Testing for Frontotemporal Lobar Degeneration. JAMA Netw Open. 2024 Apr 1; 7 (4):e244266 Epub 2024 Apr 01
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  6. Cabrera GT, Meijboom KE, Abdallah A, Tran H, Foster Z, Weiss A, Wightman N, Stock R, Gendron T, Gruntman A, Giampetruzzi A, Petrucelli L, Brown RH Jr, Mueller C. Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo. Gene Ther. 2024 Mar; 31 (3-4):105-118 Epub 2023 Sept 26
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  7. Chung M, Carter EK, Veire AM, Dammer EB, Chang J, Duong DM, Raj N, Bassell GJ, Glass JD, Gendron TF, Nelson PT, Levey AI, Seyfried NT, McEachin ZT. Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains. Acta Neuropathol. 2024 Feb 3; 147 (1):29 Epub 2024 Feb 03
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  8. Pressman PS, Carter DJ, Ramos EM, Molden J, Smith K, Dino F, McMillan C, Irwin D, Rascovsky K, Ghoshal N, Knudtson M, Rademakers R, Geschwind D, Gendron T, Petrucelli L, Heuer H, Boeve BF, Barmada S, Boxer A, Tempini MLG, Rosen HJ. Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant. Neurocase. 2024 Feb; 30 (1):39-47 Epub 2024 May 17
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  9. Irwin KE, Sheth U, Wong PC, Gendron TF. Fluid biomarkers for amyotrophic lateral sclerosis: a review. Mol Neurodegener. 2024 Jan 24; 19 (1):9
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  10. Castellanos Otero P, Todd TW, Shao W, Jones CJ, Huang K, Daughrity LM, Yue M, Sheth U, Gendron TF, Prudencio M, Oskarsson B, Dickson DW, Petrucelli L, Zhang YJ. Generation and characterization of monoclonal antibodies against pathologically phosphorylated TDP-43. PLoS One. 2024; 19 (4):e0298080 Epub 2024 Apr 18
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  11. Boeve BF, Ladha SS, Sun S, Sattler R, Traynor BJ, Robertson J, Van Den Bosch L, Barmada SJ, Svendsen CN, Disney MD, Gendron TF, Wong PC, Turner MR, Boxer A, Babu S, Benatar M, Kurnellas M, Rohrer JD, Donnelly CJ, Bustos LM, Van Keuren-Jensen K, Dacks PA, Sabbagh MN, Attendees of the inaugural C9ORF72 FTD/ALS Summit. Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit. Neurol Ther. 2023 Dec; 12 (6):1821-1843 Epub 2023 Oct 17
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  12. Gendron TF, Petrucelli L. Immunological drivers of amyotrophic lateral sclerosis. Sci Transl Med. 2023 Nov 8; 15 (721):eadj9332 Epub 2023 Nov 08
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  13. 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. Poly(GR) interacts with key stress granule factors promoting its assembly into cytoplasmic inclusions. Cell Rep. 2023 Aug 29; 42 (8):112822 Epub 2023 July 19
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  14. Fujino Y, Ueyama M, Ishiguro T, Ozawa D, Ito H, Sugiki T, Murata A, Ishiguro A, Gendron T, Mori K, Tokuda E, Taminato T, Konno T, Koyama A, Kawabe Y, Takeuchi T, Furukawa Y, Fujiwara T, Ikeda M, Mizuno T, Mochizuki H, Mizusawa H, Wada K, Ishikawa K, Onodera O, Nakatani K, Petrucelli L, Taguchi H, Nagai Y. FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTD. Elife. 2023 Jul 18; 12 Epub 2023 July 18
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  15. Riemenschneider H, Simonetti F, Sheth U, Katona E, Roth S, Hutten S, Farny D, Michaelsen M, Nuscher B, Schmidt MK, Flatley A, Schepers A, Gruijs da Silva LA, Zhou Q, Klopstock T, Liesz A, Arzberger T, Herms J, Feederle R, Gendron TF, Dormann D, Edbauer D. Targeting the glycine-rich domain of TDP-43 with antibodies prevents its aggregation in vitro and reduces neurofilament levels in vivo. Acta Neuropathol Commun. 2023 Jul 11; 11 (1):112 Epub 2023 July 11
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  16. Casaletto KB, Kornack J, Paolillo EW, Rojas JC, VandeBunte A, Staffaroni AS, Lee S, Heuer H, Forsberg L, Ramos EM, Miller BL, Kramer JH, Yaffe K, Petrucelli L, Boxer A, Boeve B, Gendron TF, Rosen H, ALLFTD Consortium. Association of Physical Activity With Neurofilament Light Chain Trajectories in Autosomal Dominant Frontotemporal Lobar Degeneration Variant Carriers. JAMA Neurol 2023 Jan 1; 80 (1):82-90
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  17. Lorenzini I, Alsop E, Levy J, Gittings LM, Lall D, Rabichow BE, Moore S, Pevey R, Bustos LM, Burciu C, Bhatia D, Singer M, Saul J, McQuade A, Tzioras M, Mota TA, Logemann A, Rose J, Almeida S, Gao FB, Marks M, Donnelly CJ, Hutchins E, Hung ST, Ichida J, Bowser R, Spires-Jones T, Blurton-Jones M, Gendron TF, Baloh RH, Van Keuren-Jensen K, Sattler R. Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features. Front Cell Neurosci. 2023; 17:1179796 Epub 2023 June 06
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  18. Erben Y, Marquez CP, Prudencio M, Fortich S, Gendron T, Sanghavi D, Hickson L, Li Y, Edwards MA, Ritchie C, Franco PM, Petrucelli L, Meschia JF. Race affects adverse outcomes of deep vein thrombosis, pulmonary embolism, and acute kidney injury in coronavirus disease 2019 hospitalized patients. J Vasc Surg Venous Lymphat Disord. 2023 Jan; 11 (1):19-24.e3 Epub 2022 Sept 10
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  19. Jambeau M, Meyer KD, Hruska-Plochan M, Tabet R, Lee CZ, Ray-Soni A, Aguilar C, Savage K, Mishra N, Cavegn N, Borter P, Lin CC, Jansen-West KR, Jiang J, Freyermuth F, Li N, De Rossi P, Perez-Berlanga M, Jiang X, Daughrity LM, Pereira J, Narayanan S, Gu Y, Dhokai S, Dalkilic-Liddle I, Maniecka Z, Weber J, Workman M, McAlonis-Downes M, Berezovski E, Zhang YJ, Berry J, Wainger BJ, Kankel MW, Rushe M, Hock C, Nitsch RM, Cleveland DW, Petrucelli L, Gendron TF, Montrasio F, Grimm J, Polymenidou M, Lagier-Tourenne C. Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9orf72 disease. Proc Natl Acad Sci U S A. 2022 Dec 6; 119 (49):e2123487119 Epub 2022 Dec 01
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  20. Bush JA, Meyer SM, Fuerst R, Tong Y, Li Y, Benhamou RI, Aikawa H, Zanon PRA, Gibaut QMR, Angelbello AJ, Gendron TF, Zhang YJ, Petrucelli L, Heick Jensen T, Childs-Disney JL, Disney MD. A blood-brain penetrant RNA-targeted small molecule triggers elimination of r(G(4)C(2))(exp) in c9ALS/FTD via the nuclear RNA exosome. Proc Natl Acad Sci U S A. 2022 Nov 29; 119 (48):e2210532119 Epub 2022 Nov 21
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  21. Erben Y, Prudencio M, Marquez CP, Jansen-West KR, Heckman MG, White LJ, Dunmore JA, Cook CN, Lilley MT, Qosja N, Song Y, Hanna Al Shaikh R, Daughrity LM, Bartfield JL, Day GS, Oskarsson B, Nicholson KA, Wszolek ZK, Hoyne JB, Gendron TF, Meschia JF, Petrucelli L. Neurofilament light chain and vaccination status associate with clinical outcomes in severe COVID-19. iScience. 2022 Nov 18; 25 (11):105272 Epub 2022 Oct 04
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  22. Meijboom KE, Abdallah A, Fordham NP, Nagase H, Rodriguez T, Kraus C, Gendron TF, Krishnan G, Esanov R, Andrade NS, Rybin MJ, Ramic M, Stephens ZD, Edraki A, Blackwood MT, Kahriman A, Henninger N, Kocher JA, Benatar M, Brodsky MH, Petrucelli L, Gao FB, Sontheimer EJ, Brown RH, Zeier Z, Mueller C. CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro. Nat Commun. 2022 Oct 21; 13 (1):6286
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  23. 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. Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration. Science. 2022 Oct 7; 378 (6615):94-99 Epub 2022 Oct 06
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  24. Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonca A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL, Frontotemporal Dementia Prevention Initiative (FPI) Investigators. Temporal order of clinical and biomarker changes in familial frontotemporal dementia. Nat Med. 2022 Oct; 28 (10):2194-2206 Epub 2022 Sept 22
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  25. Gao J, Mewborne QT, Girdhar A, Sheth U, Coyne AN, Punathil R, Kang BG, Dasovich M, Veire A, DeJesus Hernandez M, Liu S, Shi Z, Dafinca R, Fouquerel E, Talbot K, Kam TI, Zhang YJ, Dickson D, Petrucelli L, van Blitterswijk M, Guo L, Dawson TM, Dawson VL, Leung AKL, Lloyd TE, Gendron TF, Rothstein JD, Zhang K. Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins. Sci Transl Med. 2022 Sep 14; 14 (662):eabq3215 Epub 2022 Sept 14
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  26. Pickles S, Gendron TF, Koike Y, Yue M, Song Y, Kachergus JM, Shi J, DeTure M, Thompson EA, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Wszolek ZK, Josephs KA, Dickson DW, Petrucelli L, Cook CN, Prudencio M. Evidence of cerebellar TDP-43 loss of function in FTLD-TDP. Acta Neuropathol Commun. 2022 Jul 25; 10 (1):107 Epub 2022 July 25
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  27. Gendron TF, Heckman MG, White LJ, Veire AM, Pedraza O, Burch AR, Bozoki AC, Dickerson BC, Domoto-Reilly K, Foroud T, Forsberg LK, Galasko DR, Ghoshal N, Graff-Radford NR, Grossman M, Heuer HW, Huey ED, Hsiung GR, Irwin DJ, Kaufer DI, Leger GC, Litvan I, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Ritter A, Roberson ED, Rojas JC, Tartaglia MC, Wszolek ZK, Rosen H, Boeve BF, Boxer AL, Petrucelli L, ALLFTD consortium. Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders. Cell Rep Med. 2022 Apr 19; 3 (4):100607
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  28. Ursu A, Baisden JT, Bush JA, Taghavi A, Choudhary S, Zhang YJ, Gendron TF, Petrucelli L, Yildirim I, Disney MD. A Small Molecule Exploits Hidden Structural Features within the RNA Repeat Expansion That Causes c9ALS/FTD and Rescues Pathological Hallmarks. ACS Chem Neurosci. 2021 Nov 3; 12 (21):4076-4089 Epub 2021 Oct 22
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  29. Erben Y, Franco-Mesa C, Gloviczki P, Stone W, Quinones-Hinojoas A, Quinones-Hinojosa A, Meltzer AJ, Lin M, Greenway MRF, Hamid O, Devcic Z, Toskich B, Ritchie C, Lamb CJ, De Martino RR, Siegel J, Farres H, Hakaim AG, Sanghavi DK, Li Y, Rivera C, Moreno-Franco P, O'Keefe NL, Gopal N, Marquez CP, Huang JF, Kalra M, Shields R, Prudencio M, Gendron T, McBane R, Park M, Hoyne JB, Petrucelli L, O'Horo JC, Meschia JF. Deep vein thrombosis and pulmonary embolism among hospitalized coronavirus disease 2019-positive patients predicted for higher mortality and prolonged intensive care unit and hospital stays in a multisite healthcare system. J Vasc Surg Venous Lymphat Disord. 2021 Nov; 9 (6):1361-1370.e1 Epub 2021 Apr 06
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  30. Bush JA, Aikawa H, Fuerst R, Li Y, Ursu A, Meyer SM, Benhamou RI, Chen JL, Khan T, Wagner-Griffin S, Van Meter MJ, Tong Y, Olafson H, McKee KK, Childs-Disney JL, Gendron TF, Zhang Y, Coyne AN, Wang ET, Yildirim I, Wang KW, Petrucelli L, Rothstein JD, Disney MD. Ribonuclease recruitment using a small molecule reduced c9ALS/FTD r(G4C2) repeat expansion in vitro and in vivo ALS models. Sci Transl Med. 2021 Oct 27; 13 (617):eabd5991
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  31. Sonobe Y, Aburas J, Krishnan G, Fleming AC, Ghadge G, Islam P, Warren EC, Gu Y, Kankel MW, Brown AEX, Kiskinis E, Gendron TF, Gao FB, Roos RP, Kratsios P. A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation. Nat Commun. 2021 Oct 15; 12 (1):6025
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  32. Watzlawik JO, Hou X, Truban D, Fricova D, Ramnarine C, Barodia SK, Gendron TF, Heckman MG, DeTure M, Siuda J, Wszolek ZK, Scherzer CR, Ross OA, Bu G, Dickson DW, Goldberg MS, Fiesel FC, Springer W. Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples. Autophagy. 2021 Sep; 17 (9):2613-2628 Epub 2020 Oct 28
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  33. Prudencio M, Erben Y, Marquez CP, Jansen-West KR, Franco-Mesa C, Heckman MG, White LJ, Dunmore JA, Cook CN, Lilley MT, Song Y, Harlow CF, Oskarsson B, Nicholson KA, Wszolek ZK, Hickson LJ, O'Horo JC, Hoyne JB, Gendron TF, Meschia JF, Petrucelli L. Serum neurofilament light protein correlates with unfavorable clinical outcomes in hospitalized patients with COVID-19. Sci Transl Med. 2021 Jul 14; 13 (602) Epub 2021 June 15
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  34. DeJesus-Hernandez M, Aleff RA, Jackson JL, Finch NA, Baker MC, Gendron TF, Murray ME, McLaughlin IJ, Harting JR, Graff-Radford NR, Oskarsson B, Knopman DS, Josephs KA, Boeve BF, Petersen RC, Fryer JD, Petrucelli L, Dickson DW, Rademakers R, Ebbert MTW, Wieben ED, van Blitterswijk M. Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases. Brain. 2021 May 7; 144 (4):1082-1088
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  35. Krull AA, Setter DO, Gendron TF, Hrstka SCL, Polzin MJ, Hart J, Dudakovic A, Madigan NN, Dietz AB, Windebank AJ, van Wijnen AJ, Staff NP. Alterations of mesenchymal stromal cells in cerebrospinal fluid: insights from transcriptomics and an ALS clinical trial. Stem Cell Res Ther. 2021 Mar 18; 12 (1):187
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  36. Ursu A, Wang KW, Bush JA, Choudhary S, Chen JL, Baisden JT, Zhang YJ, Gendron TF, Petrucelli L, Yildirim I, Disney MD. Structural Features of Small Molecules Targeting the RNA Repeat Expansion That Causes Genetically Defined ALS/FTD. ACS Chem Biol. 2020 Dec 18; 15 (12):3112-3123 Epub 2020 Nov 16
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  37. Gendron TF, Badi MK, Heckman MG, Jansen-West KR, Vilanilam GK, Johnson PW, Burch AR, Walton RL, Ross OA, Brott TG, Miller TM, Berry JD, Nicholson KA, Wszolek ZK, Oskarsson BE, Sheth KN, Sansing LH, Falcone GJ, Cucchiara BL, Meschia JF, Petrucelli L. Plasma neurofilament light predicts mortality in patients with stroke. Sci Transl Med. 2020 Nov 11; 12 (569)
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  38. Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S, Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L, NYGC ALS Consortium. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. J Clin Invest. 2020 Nov 2; 130 (11):6080-6092
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  39. Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3. Sci Transl Med. 2020 Oct 21; 12(566).
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  40. Cook CN, Wu Y, Odeh HM, Gendron TF, Jansen-West K, Del Rosso G, Yue M, Jiang P, Gomes E, Tong J, Daughrity LM, Avendano NM, Castanedes-Casey M, Shao W, Oskarsson B, Tomassy GS, McCampbell A, Rigo F, Dickson DW, Shorter J, Zhang YJ, Petrucelli L. C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy. Sci Transl Med. 2020 Sep 2; 12 (559)
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  41. McEachin ZT, Gendron TF, Raj N, Garcia-Murias M, Banerjee A, Purcell RH, Ward PJ, Todd TW, Merritt-Garza ME, Jansen-West K, Hales CM, Garcia-Sobrino T, Quintans B, Holler CJ, Taylor G, San Millan B, Teijeira S, Yamashita T, Ohkubo R, Boulis NM, Xu C, Wen Z, Streichenberger N, Fogel BL, Kukar T, Abe K, Dickson DW, Arias M, Glass JD, Jiang J, Tansey MG, Sobrido MJ, Petrucelli L, Rossoll W, Bassell GJ, Neuro-CEB Neuropathology Network. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. Neuron. 2020 Jul 22; 107 (2):292-305.e6 Epub 2020 May 05
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  42. Todd TW, McEachin ZT, Chew J, Burch AR, Jansen-West K, Tong J, Yue M, Song Y, Castanedes-Casey M, Kurti A, Dunmore JH, Fryer JD, Zhang YJ, San Millan B, Teijeira Bautista S, Arias M, Dickson D, Gendron TF, Sobrido MJ, Disney MD, Bassell GJ, Rossoll W, Petrucelli L. Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo. Cell Rep. 2020 May 5; 31 (5):107616
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  43. Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, Da Cruz S, Lagier-Tourenne C, Cleveland DW. Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72. Nat Neurosci. 2020 May; 23 (5):615-624 Epub 2020 Apr 13
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  44. Ortega JA, Daley EL, Kour S, Samani M, Tellez L, Smith HS, Hall EA, Esengul YT, Tsai YH, Gendron TF, Donnelly CJ, Siddique T, Savas JN, Pandey UB, Kiskinis E. Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity. Neuron. 2020 Apr 8; 106 (1):90-107.e13 Epub 2020 Feb 13
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  45. Vu L, An J, Kovalik T, Gendron T, Petrucelli L, Bowser R. Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes. J Neurol Neurosurg Psychiatry. 2020 Apr; 91 (4):350-358 Epub 2020 Jan 14
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  46. Andrade NS, Ramic M, Esanov R, Liu W, Rybin MJ, Gaidosh G, Abdallah A, Del'Olio S, Huff TC, Chee NT, Anatha S, Gendron TF, Wahlestedt C, Zhang Y, Benatar M, Mueller C, Zeier Z. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD. Mol Neurodegener. 2020 Feb 24; 15 (1):13
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  47. Yuva-Aydemir Y, Almeida S, Krishnan G, Gendron TF, Gao FB. Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD. Nat Commun. 2019 Nov 29; 10 (1):5466
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  48. Dickson DW, Baker MC, Jackson JL, DeJesus-Hernandez M, Finch NA, Tian S, Heckman MG, Pottier C, Gendron TF, Murray ME, Ren Y, Reddy JS, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Petrucelli L, Oskarsson B, Sheppard JW, Asmann YW, Rademakers R, van Blitterswijk M. Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers. Acta Neuropathol Commun. 2019 Oct 8; 7 (1):150 Epub 2019 Oct 08
    View PubMed
  49. Yamada SB, Gendron TF, Niccoli T, Genuth NR, Grosely R, Shi Y, Glaria I, Kramer NJ, Nakayama L, Fang S, Dinger TJI, Thoeng A, Rocha G, Barna M, Puglisi JD, Partridge L, Ichida JK, Isaacs AM, Petrucelli L, Gitler AD. RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats. Nat Neurosci. 2019 Sep; 22 (9):1383-1388 Epub 2019 July 29
    View PubMed
  50. Wang ZF, Ursu A, Childs-Disney JL, Guertler R, Yang WY, Bernat V, Rzuczek SG, Fuerst R, Zhang YJ, Gendron TF, Yildirim I, Dwyer BG, Rice JE, Petrucelli L, Disney MD. The Hairpin Form of r(G4C2)(exp) in c9ALS/FTD Is Repeat-Associated Non-ATG Translated and a Target for Bioactive Small Molecules. Cell Chem Biol. 2019 Feb 21; 26 (2):179-190.e12 Epub 2018 Nov 29
    View PubMed
  51. Zhang YJ, Guo L, Gonzales PK, Gendron TF, Wu Y, Jansen-West K, O'Raw AD, Pickles SR, Prudencio M, Carlomagno Y, Gachechiladze MA, Ludwig C, Tian R, Chew J, DeTure M, Lin WL, Tong J, Daughrity LM, Yue M, Song Y, Andersen JW, Castanedes-Casey M, Kurti A, Datta A, Antognetti G, McCampbell A, Rademakers R, Oskarsson B, Dickson DW, Kampmann M, Ward ME, Fryer JD, Link CD, Shorter J, Petrucelli L. Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity. Science. 2019 Feb 15; 363 (6428)
    View PubMed
  52. Chew J, Cook C, Gendron TF, Jansen-West K, Del Rosso G, Daughrity LM, Castanedes-Casey M, Kurti A, Stankowski JN, Disney MD, Rothstein JD, Dickson DW, Fryer JD, Zhang YJ, Petrucelli L. Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy. Mol Neurodegener. 2019 Feb 15; 14 (1):9
    View PubMed
  53. Oskarsson B, Gendron TF, Staff NP. Amyotrophic Lateral Sclerosis: An Update for 2018. Mayo Clin Proc. 2018 Nov; 93 (11):1617-1628 Epub 2018 July 04
    View PubMed
  54. Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, Petrucelli L, Fryer JD. Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease. Mol Neurodegener. 2018 Aug 21; 13 (1):46
    View PubMed
  55. Zhang YJ, Gendron TF, Ebbert MTW, O'Raw AD, Yue M, Jansen-West K, Zhang X, Prudencio M, Chew J, Cook CN, Daughrity LM, Tong J, Song Y, Pickles SR, Castanedes-Casey M, Kurti A, Rademakers R, Oskarsson B, Dickson DW, Hu W, Gitler AD, Fryer JD, Petrucelli L. Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. Nat Med. 2018 Aug; 24 (8):1136-1142 Epub 2018 June 25
    View PubMed
  56. Sakae N, Bieniek KF, Zhang YJ, Ross K, Gendron TF, Murray ME, Rademakers R, Petrucelli L, Dickson DW. Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease. Acta Neuropathol Commun. 2018 Jul 20; 6 (1):63 Epub 2018 July 20
    View PubMed
  57. Nicholson AM, Zhou X, Perkerson RB, Parsons TM, Chew J, Brooks M, DeJesus-Hernandez M, Finch NA, Matchett BJ, Kurti A, Jansen-West KR, Perkerson E, Daughrity L, Castanedes-Casey M, Rousseau L, Phillips V, Hu F, Gendron TF, Murray ME, Dickson DW, Fryer JD, Petrucelli L, Rademakers R. Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity. Acta Neuropathol Commun. 2018 May 31; 6 (1):42
    View PubMed
  58. Meeter LHH, Gendron TF, Sias AC, Jiskoot LC, Russo SP, Donker Kaat L, Papma JM, Panman JL, van der Ende EL, Dopper EG, Franzen S, Graff C, Boxer AL, Rosen HJ, Sanchez-Valle R, Galimberti D, Pijnenburg YAL, Benussi L, Ghidoni R, Borroni B, Laforce R Jr, Del Campo M, Teunissen CE, van Minkelen R, Rojas JC, Coppola G, Geschwind DH, Rademakers R, Karydas AM, Oijerstedt L, Scarpini E, Binetti G, Padovani A, Cash DM, Dick KM, Bocchetta M, Miller BL, Rohrer JD, Petrucelli L, van Swieten JC, Lee SE. Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers. Ann Clin Transl Neurol. 2018 May; 5 (5):583-597 Epub 2018 Apr 06
    View PubMed
  59. Gendron TF, Petrucelli L. Disease Mechanisms of C9ORF72 Repeat Expansions. Cold Spring Harb Perspect Med. 2018 Apr 2; 8 (4) Epub 2018 Apr 02
    View PubMed
  60. Swinnen B, Bento-Abreu A, Gendron TF, Boeynaems S, Bogaert E, Nuyts R, Timmers M, Scheveneels W, Hersmus N, Wang J, Mizielinska S, Isaacs AM, Petrucelli L, Lemmens R, Van Damme P, Van Den Bosch L, Robberecht W. A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism. Acta Neuropathol. 2018 Mar; 135 (3):427-443 Epub 2018 Jan 04
    View PubMed
  61. Tabet R, Schaeffer L, Freyermuth F, Jambeau M, Workman M, Lee CZ, Lin CC, Jiang J, Jansen-West K, Abou-Hamdan H, Desaubry L, Gendron T, Petrucelli L, Martin F, Lagier-Tourenne C. CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts. Nat Commun. 2018 Jan 11; 9 (1):152
    View PubMed
  62. Floeter MK, Gendron TF. Biomarkers for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated With Hexanucleotide Expansion Mutations in C9orf72. Front Neurol. 2018; 9:1063 Epub 2018 Dec 05
    View PubMed
  63. Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan; 177 (1):75-85 Epub 2017 Oct 28
    View PubMed
  64. Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ. ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion. Neurol Genet. 2017 Oct; 3 (5):e190 Epub 2017 Sept 22
    View PubMed
  65. Prudencio M, Gonzales PK, Cook CN, Gendron TF, Daughrity LM, Song Y, Ebbert MTW, van Blitterswijk M, Zhang YJ, Jansen-West K, Baker MC, DeTure M, Rademakers R, Boylan KB, Dickson DW, Petrucelli L, Link CD. Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients. Hum Mol Genet. 2017 Sep 1; 26 (17):3421-3431
    View PubMed
  66. Schludi MH, Becker L, Garrett L, Gendron TF, Zhou Q, Schreiber F, Popper B, Dimou L, Strom TM, Winkelmann J, von Thaden A, Rentzsch K, May S, Michaelsen M, Schwenk BM, Tan J, Schoser B, Dieterich M, Petrucelli L, Holter SM, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Klopstock T, Arzberger T, Edbauer D. Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. Acta Neuropathol. 2017 Aug; 134 (2):241-254 Epub 2017 Apr 13
    View PubMed
  67. Finch NA, Wang X, Baker MC, Heckman MG, Gendron TF, Bieniek KF, Wuu J, DeJesus-Hernandez M, Brown PH, Chew J, Jansen-West KR, Daughrity LM, Nicholson AM, Murray ME, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Asmann YW, Dickson DW, Benatar M, Bowser R, Boylan KB, Rademakers R, van Blitterswijk M. Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers. Neurol Genet. 2017 Aug; 3 (4):e161 Epub 2017 June 07
    View PubMed
  68. DeJesus-Hernandez M, Finch NA, Wang X, Gendron TF, Bieniek KF, Heckman MG, Vasilevich A, Murray ME, Rousseau L, Weesner R, Lucido A, Parsons M, Chew J, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, de Boer J, Asmann YW, Petrucelli L, Boylan KB, Dickson DW, van Blitterswijk M, Rademakers R. In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol. 2017 Aug; 134 (2):255-269 Epub 2017 May 15
    View PubMed
  69. Gendron TF, Daughrity LM, Heckman MG, Diehl NN, Wuu J, Miller TM, Pastor P, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Benatar M, Silani V, Glass JD, Floeter MK, Jeromin A, Boylan KB, Petrucelli L, C9ORF72 Neurofilament Study Group. Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. Ann Neurol. 2017 Jul; 82 (1):139-146
    View PubMed
  70. Esanov R, Cabrera GT, Andrade NS, Gendron TF, Brown RH Jr, Benatar M, Wahlestedt C, Mueller C, Zeier Z. A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD. Mol Neurodegener. 2017 Jun 12; 12 (1):46 Epub 2017 June 12
    View PubMed
  71. Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, Tabassian LJ, Lee CW, Yue M, Tong J, Song Y, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Rademakers R, Fryer JD, Rush BK, Pedraza O, Caputo AM, Desaro P, Palmucci C, Robertson A, Heckman MG, Diehl NN, Wiggs E, Tierney M, Braun L, Farren J, Lacomis D, Ladha S, Fournier CN, McCluskey LF, Elman LB, Toledo JB, McBride JD, Tiloca C, Morelli C, Poletti B, Solca F, Prelle A, Wuu J, Jockel-Balsarotti J, Rigo F, Ambrose C, Datta A, Yang W, Raitcheva D, Antognetti G, McCampbell A, Van Swieten JC, Miller BL, Boxer AL, Brown RH, Bowser R, Miller TM, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Traynor BJ, Disney MD, Benatar M, Silani V, Glass JD, Floeter MK, Rothstein JD, Boylan KB, Petrucelli L. Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Sci Transl Med. 2017 Mar 29; 9 (383)
    View PubMed
  72. Vatsavayai SC, Yoon SJ, Gardner RC, Gendron TF, Vargas JN, Trujillo A, Pribadi M, Phillips JJ, Gaus SE, Hixson JD, Garcia PA, Rabinovici GD, Coppola G, Geschwind DH, Petrucelli L, Miller BL, Seeley WW. Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia. Brain. 2016 Dec; 139 (Pt 12):3202-3216 Epub 2016 Oct 22
    View PubMed
  73. Lopez-Gonzalez R, Lu Y, Gendron TF, Karydas A, Tran H, Yang D, Petrucelli L, Miller BL, Almeida S, Gao FB. Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons. Neuron. 2016 Oct 19; 92 (2):383-391 Epub 2016 Oct 06
    View PubMed
  74. Sasaguri H, Chew J, Xu YF, Gendron TF, Garrett A, Lee CW, Jansen-West K, Bauer PO, Perkerson EA, Tong J, Stetler C, Zhang YJ. The extreme N-terminus of TDP-43 mediates the cytoplasmic aggregation of TDP-43 and associated toxicity in vivo. Brain Res. 2016 Sep 15; 1647:57-64 Epub 2016 May 04
    View PubMed
  75. Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW 3rd, Goodman LD, Daughrity L, Chew J, Garrett A, Pregent L, Jansen-West K, Tabassian LJ, Rademakers R, Boylan K, Graff-Radford NR, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Deng N, Feng Y, Cheng TH, Dickson DW, Cohen SN, Bonini NM, Link CD, Gao FB, Petrucelli L, Gitler AD. Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. Science. 2016 Aug 12; 353 (6300):708-12
    View PubMed
  76. Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, Chun S, Sun S, Ling SC, Myers B, Engelhardt J, Katz M, Baughn M, Platoshyn O, Marsala M, Watt A, Heyser CJ, Ard MC, De Muynck L, Daughrity LM, Swing DA, Tessarollo L, Jung CJ, Delpoux A, Utzschneider DT, Hedrick SM, de Jong PJ, Edbauer D, Van Damme P, Petrucelli L, Shaw CE, Bennett CF, Da Cruz S, Ravits J, Rigo F, Cleveland DW, Lagier-Tourenne C. Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron. 2016 May 4; 90 (3):535-50 Epub 2016 Apr 21
    View PubMed
  77. Zhang YJ, Gendron TF, Grima JC, Sasaguri H, Jansen-West K, Xu YF, Katzman RB, Gass J, Murray ME, Shinohara M, Lin WL, Garrett A, Stankowski JN, Daughrity L, Tong J, Perkerson EA, Yue M, Chew J, Castanedes-Casey M, Kurti A, Wang ZS, Liesinger AM, Baker JD, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Rademakers R, Boylan KB, Bu G, Link CD, Dickey CA, Rothstein JD, Dickson DW, Fryer JD, Petrucelli L. C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nat Neurosci. 2016 May; 19 (5):668-677 Epub 2016 Mar 21
    View PubMed
  78. O'Rourke JG, Bogdanik L, Muhammad AKMG, Gendron TF, Kim KJ, Austin A, Cady J, Liu EY, Zarrow J, Grant S, Ho R, Bell S, Carmona S, Simpkinson M, Lall D, Wu K, Daughrity L, Dickson DW, Harms MB, Petrucelli L, Lee EB, Lutz CM, Baloh RH. C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD. Neuron. 2015 Dec 2; 88 (5):892-901
    View PubMed
  79. Peters OM, Cabrera GT, Tran H, Gendron TF, McKeon JE, Metterville J, Weiss A, Wightman N, Salameh J, Kim J, Sun H, Boylan KB, Dickson D, Kennedy Z, Lin Z, Zhang YJ, Daughrity L, Jung C, Gao FB, Sapp PC, Horvitz HR, Bosco DA, Brown SP, de Jong P, Petrucelli L, Mueller C, Brown RH Jr. Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice. Neuron. 2015 Dec 2; 88 (5):902-909
    View PubMed
  80. van Blitterswijk M, Gendron TF, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Daughrity LM, Murray ME, Heckman MG, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. Acta Neuropathol. 2015 Dec; 130 (6):863-76 Epub 2015 Oct 05
    View PubMed
  81. Mackenzie IR, Frick P, Grasser FA, Gendron TF, Petrucelli L, Cashman NR, Edbauer D, Kremmer E, Prudlo J, Troost D, Neumann M. Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers. Acta Neuropathol. 2015 Dec; 130 (6):845-61 Epub 2015 Sept 15
    View PubMed
  82. Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK, Pedraza O, Lucas JA, Murray ME, Desaro P, Robertson A, Overstreet K, Thomas CS, Crook JE, Castanedes-Casey M, Rousseau L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Rademakers R, Lagier-Tourenne C, Edbauer D, Cleveland DW, Dickson DW, Petrucelli L, Boylan KB. Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta Neuropathol. 2015 Oct; 130 (4):559-73 Epub 2015 Sept 08
    View PubMed
  83. Tran H, Almeida S, Moore J, Gendron TF, Chalasani U, Lu Y, Du X, Nickerson JA, Petrucelli L, Weng Z, Gao FB. Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS. Neuron. 2015 Sep 23; 87 (6):1207-1214
    View PubMed
  84. Prudencio M, Belzil VV, Batra R, Ross CA, Gendron TF, Pregent LJ, Murray ME, Overstreet KK, Piazza-Johnston AE, Desaro P, Bieniek KF, DeTure M, Lee WC, Biendarra SM, Davis MD, Baker MC, Perkerson RB, van Blitterswijk M, Stetler CT, Rademakers R, Link CD, Dickson DW, Boylan KB, Li H, Petrucelli L. Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS. Nat Neurosci. 2015 Aug; 18 (8):1175-82 Epub 2015 July 20
    View PubMed
  85. Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD, Petrucelli L. Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science. 2015 Jun 5; 348 (6239):1151-4 Epub 2015 May 14
    View PubMed
  86. Saldi TK, Ash PE, Wilson G, Gonzales P, Garrido-Lecca A, Roberts CM, Dostal V, Gendron TF, Stein LD, Blumenthal T, Petrucelli L, Link CD. TDP-1, the Caenorhabditis elegans ortholog of TDP-43, limits the accumulation of double-stranded RNA. EMBO J. 2014 Dec 17; 33 (24):2947-66 Epub 2014 Nov 12
    View PubMed
  87. Belzil VV, Bauer PO, Gendron TF, Murray ME, Dickson D, Petrucelli L. Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients. Brain Res. 2014 Oct 10; 1584:15-21. Epub 2014 Feb 12.
    View PubMed
  88. Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL, Sasaguri H, Caulfield T, Hubbard J, Daughrity L, Chew J, Belzil VV, Prudencio M, Stankowski JN, Castanedes-Casey M, Whitelaw E, Ash PE, DeTure M, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathol. 2014 Oct; 128 (4):505-24 Epub 2014 Aug 31
    View PubMed
  89. Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, Johnston A, Overstreet K, Oh SY, Todd PK, Berry JD, Cudkowicz ME, Boeve BF, Dickson D, Floeter MK, Traynor BJ, Morelli C, Ratti A, Silani V, Rademakers R, Brown RH, Rothstein JD, Boylan KB, Petrucelli L, Disney MD. Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS. Neuron. 2014 Sep 3; 83 (5):1043-50 Epub 2014 Aug 14
    View PubMed
  90. Lee WC, Almeida S, Prudencio M, Caulfield TR, Zhang YJ, Tay WM, Bauer PO, Chew J, Sasaguri H, Jansen-West KR, Gendron TF, Stetler CT, Finch N, Mackenzie IR, Rademakers R, Gao FB, Petrucelli L. Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency. Hum Mol Genet. 2014 Mar 15; 23 (6):1467-78 Epub 2013 Oct 26
    View PubMed
  91. Gendron TF, Belzil VV, Zhang YJ, Petrucelli L. Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathol. 2014 Mar; 127 (3):359-76 Epub 2014 Jan 07
    View PubMed
  92. Cook C, Carlomagno Y, Gendron TF, Dunmore J, Scheffel K, Stetler C, Davis M, Dickson D, Jarpe M, DeTure M, Petrucelli L. Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance. Hum Mol Genet. 2014 Jan 1; 23 (1):104-16 Epub 2013 Aug 19
    View PubMed
  93. Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol. 2013 Dec; 126 (6):829-44 Epub 2013 Oct 16
    View PubMed
  94. Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol. 2013 Dec; 126 (6):895-905 Epub 2013 Oct 29
    View PubMed
  95. Sareen D, O'Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH. Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med. 2013 Oct 23; 5(208):208ra149.
    View PubMed
  96. Murray ME, Bieniek KF, Banks Greenberg M, DeJesus-Hernandez M, Rutherford NJ, van Blitterswijk M, Niemantsverdriet E, Ash PE, Gendron TF, Kouri N, Baker M, Goodman IJ, Petrucelli L, Rademakers R, Dickson DW. Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72. Acta Neuropathol. 2013 Oct; 126 (4):545-54 Epub 2013 Aug 07
    View PubMed
  97. Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S. Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol. 2013 Sep; 126(3):401-9. Epub 2013 Jul 02.
    View PubMed
  98. Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB. Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol. 2013 Sep; 126(3):385-99. Epub 2013 Jul 09.
    View PubMed
  99. Belzil VV, Gendron TF, Petrucelli L. RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci. 2013 Sep; 56:406-19 Epub 2012 Dec 29
    View PubMed
  100. Zhang YJ, Caulfield T, Xu YF, Gendron TF, Hubbard J, Stetler C, Sasaguri H, Whitelaw EC, Cai S, Lee WC, Petrucelli L. The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation. Hum Mol Genet. 2013 Aug 1; 22 (15):3112-22 Epub 2013 Apr 10
    View PubMed
  101. Clippinger AK, D'Alton S, Lin WL, Gendron TF, Howard J, Borchelt DR, Cannon A, Carlomagno Y, Chakrabarty P, Cook C, Golde TE, Levites Y, Ranum L, Schultheis PJ, Xu G, Petrucelli L, Sahara N, Dickson DW, Giasson B, Lewis J. Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy. Acta Neuropathol. 2013 Jul; 126(1):39-50. Epub 2013 May 11.
    View PubMed
  102. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron. 2013 Feb 20; 77 (4):639-46 Epub 2013 Feb 12
    View PubMed
  103. Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S. Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun. 2013; 1(1):68. Epub 2013 Oct 14.
    View PubMed
  104. Gendron TF, Rademakers R, Petrucelli L. TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. J Alzheimers Dis. 2013; 33 Suppl 1:S35-45
    View PubMed
  105. Prudencio M, Jansen-West KR, Lee WC, Gendron TF, Zhang YJ, Xu YF, Gass J, Stuani C, Stetler C, Rademakers R, Dickson DW, Buratti E, Petrucelli L. Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A. 2012 Dec 26; 109 (52):21510-5 Epub 2012 Dec 10
    View PubMed
  106. Hamano T, Yen SH, Gendron T, Ko LW, Kuriyama M. Pitavastatin decreases tau levels via the inactivation of Rho/ROCK. Neurobiol Aging. 2012 Oct; 33(10):2306-20. Epub 2011 Dec 01.
    View PubMed
  107. Cook C, Gendron TF, Scheffel K, Carlomagno Y, Dunmore J, DeTure M, Petrucelli L. Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation. Hum Mol Genet. 2012 Jul 1; 21 (13):2936-45 Epub 2012 Apr 05
    View PubMed
  108. Gendron TF, Petrucelli L. Rodent models of TDP-43 proteinopathy: investigating the mechanisms of TDP-43-mediated neurodegeneration. J Mol Neurosci. 2011 Nov; 45 (3):486-99 Epub 2011 Aug 03
    View PubMed
  109. Zhang YJ, Gendron TF, Xu YF, Ko LW, Yen SH, Petrucelli L. Phosphorylation regulates proteasomal-mediated degradation and solubility of TAR DNA binding protein-43 C-terminal fragments. Mol Neurodegener. 2010 Aug 30; 5:33
    View PubMed
  110. Xu YF, Gendron TF, Zhang YJ, Lin WL, D'Alton S, Sheng H, Casey MC, Tong J, Knight J, Yu X, Rademakers R, Boylan K, Hutton M, McGowan E, Dickson DW, Lewis J, Petrucelli L. Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice. J Neurosci. 2010 Aug 11; 30 (32):10851-9
    View PubMed
  111. Gendron TF, Josephs KA, Petrucelli L. Review: transactive response DNA-binding protein 43 (TDP-43): mechanisms of neurodegeneration. Neuropathol Appl Neurobiol. 2010 Apr; 36 (2):97-112 Epub 2010 Feb 19
    View PubMed
  112. Hamano T, Gendron TF, Ko LW, Yen SH. Concentration-dependent effects of proteasomal inhibition on tau processing in a cellular model of tauopathy. Int J Clin Exp Pathol. 2009 Jun 15; 2 (6):561-73 Epub 2009 June 15
    View PubMed
  113. Zhang YJ, Xu YF, Cook C, Gendron TF, Roettges P, Link CD, Lin WL, Tong J, Castanedes-Casey M, Ash P, Gass J, Rangachari V, Buratti E, Baralle F, Golde TE, Dickson DW, Petrucelli L. Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Natl Acad Sci U S A. 2009 May 5; 106 (18):7607-12 Epub 2009 Apr 21
    View PubMed
  114. Gendron TF, Petrucelli L. The role of tau in neurodegeneration. Mol Neurodegener. 2009 Mar 11; 4:13
    View PubMed
  115. Gendron TF, McCartney S, Causevic E, Ko LW, Yen SH. Ethanol enhances tau accumulation in neuroblastoma cells that inducibly express tau. Neurosci Lett. 2008 Oct 3; 443 (2):67-71 Epub 2008 July 24
    View PubMed
  116. Hamano T, Gendron TF, Causevic E, Yen SH, Lin WL, Isidoro C, Deture M, Ko LW. Autophagic-lysosomal perturbation enhances tau aggregation in transfectants with induced wild-type tau expression. Eur J Neurosci. 2008 Mar; 27(5):1119-30. Epub 2008 Feb 22.
    View PubMed
  117. Tauskela JS, Brunette E, O'Reilly N, Mealing G, Comas T, Gendron TF, Monette R, Morley P. An alternative Ca2+-dependent mechanism of neuroprotection by the metalloporphyrin class of superoxide dismutase mimetics. FASEB J. 2005 Oct; 19(12):1734-6. Epub 2005 Aug 4
    View PubMed
  118. Gendron TF, Brunette E, Tauskela JS, Morley P. The dual role of prostaglandin E(2) in excitotoxicity and preconditioning-induced neuroprotection. Eur J Pharmacol. 2005 Jul 4; 517(1-2):17-27.
    View PubMed
  119. Gendron TF, Brunette E, Mealing GA, Nguyen A, Tauskela JS, Morley P. Opposing effects of cyclooxygenase-2 selective inhibitors on oxygen-glucose deprivation-induced neurotoxicity. Eur J Pharmacol. 2004 Jun 16; 493(1-3):45-55.
    View PubMed
  120. Gendron TF, Mealing GA, Paris J, Lou A, Edwards A, Hou ST, MacManus JP, Hakim AM, Morley P. Attenuation of neurotoxicity in cortical cultures and hippocampal slices from E2F1 knockout mice. J Neurochem. 2001 Jul; 78(2):316-24.
    View PubMed
  121. Cregan SP, MacLaurin J, Gendron TF, Callaghan SM, Park DS, Parks RJ, Graham FL, Morley P, Slack RS. Helper-dependent adenovirus vectors: their use as a gene delivery system to neurons. Gene Ther. 2000 Jul; 7(14):1200-9.
    View PubMed
  122. Morley P, MacLean S, Gendron TF, Small DL, Tremblay R, Durkin JP, Mealing G. Pharmacological and molecular characterization of glutamate receptors in the MIN6 pancreatic beta-cell line. Neurol Res. 2000 Jun; 22(4):379-85.
    View PubMed
  123. Tauskela JS, Hewitt K, Kang L-P, Comas T, Gendron T, Hakim A, Hogan M, Durkin J, Morley P. Evaluation of glutathione-sensitive fluorescent dyes in cortical culture. Glia. 2000; 30(4):329-41.