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Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9orf72 disease
Author / Creator:Jambeau, Melanie ; Meyer, Kevin D ; Tabet, Ricardos ; Lee, Chao-Zong ; Ray-Soni, Ananya ; Aguilar, Corey ; Savage, Kitty ; Mishra, Nibha ; Cavegn, Nicole ; Borter, Petra ; Lin, Chun-Chia ; R. Jansen-West, Karen ; Jiang, Jie ; Freyermuth, Fernande ; Li, Nan ; Rossi, Pierre De ; Perez-Berlanga, Manuela ; Jiang, Xin ; Daughrity, Lilian M ; Pereira, Joao ; Narayanan, Sarav ; Gu, Yuanzheng ; Dhokai, Shekhar ; Dalkilic-Liddle, Isin ; Maniecka, Zuzanna ; Weber, Julien ; Workman, Michael ; McAlonis-Downes, Melissa ; Berezovski, Eugene ; Yong-Berry, Jie Zhang James ; Wainger, Brian J ; Kankel, Mark W ; Rushe, Mia ; Hock, Christoph ; Nitsch, Roger M ; Cleveland, Don W ; Petrucelli, Leonard ; Gendron, Tania F ; Montrasio, Fabio ; Grimm, Jan ; Polymenidou, Magdalini ; Lagier-Tourenne, Clotilde
Publisher:Nevada Nurses Association
Journal title:Nevada RNformation, 2022-12, p.1
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Progranulin regulates neuronal outgrowth independent of sortilin
Author / Creator:Gass, Jennifer ; Lee, Wing C ; Cook, Casey ; Finch, Nicole ; Stetler, Caroline ; Jansen-West, Karen ; Lewis, Jada ; Link, Christopher D ; Rademakers, Rosa ; Nykjær, Anders ; Petrucelli, Leonard
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2012-07, Vol.7 (1), p.33-33, Article 33
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Astrocyte-derived clusterin suppresses amyloid formation in vivo
Author / Creator:Wojtas, Aleksandra M ; Sens, Jonathon P ; Kang, Silvia S ; Baker, Kelsey E ; Berry, Taylor J ; Kurti, Aishe ; Daughrity, Lillian ; Jansen-West, Karen R ; Dickson, Dennis W ; Petrucelli, Leonard ; Bu, Guojun ; Liu, Chia-Chen ; Fryer, John D
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2020-11, Vol.15 (1), p.71-14, Article 71
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Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor
Author / Creator:Prudencio, Mercedes ; Jansen-West, Karen R. ; Lee, Wing C. ; Gendron, Tania F. ; Zhang, Yong-Jie ; Xu, Ya-Fei ; Gass, Jennifer ; Stuani, Cristiana ; Stetler, Caroline ; Rademakers, Rosa ; Dickson, Dennis W. ; Buratti, Emanuele ; Petrucelli, Leonard
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-12, Vol.109 (52), p.21510-21515
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Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency
Author / Creator:Frew, Jonathan ; Baradaran-Heravi, Alireza ; Balgi, Aruna D ; Wu, Xiujuan ; Yan, Tyler D ; Arns, Steve ; Shidmoossavee, Fahimeh S ; Tan, Jason ; Jaquith, James B ; Jansen-West, Karen R ; Lynn, Francis C ; Gao, Fen-Biao ; Petrucelli, Leonard ; Feldman, Howard H ; Mackenzie, Ian R ; Roberge, Michel ; Nygaard, Haakon B
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2020-03, Vol.15 (1), p.21-19, Article 21
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Clusterin ameliorates tau pathology in vivo by inhibiting fibril formation
Author / Creator:Wojtas, Aleksandra M ; Carlomagno, Yari ; Sens, Jonathon P ; Kang, Silvia S ; Jensen, Tanner D ; Kurti, Aishe ; Baker, Kelsey E ; Berry, Taylor J ; Phillips, Virginia R ; Castanedes, Monica Casey ; Awan, Ayesha ; DeTure, Michael ; De Castro, Cristhoper H Fernandez ; Librero, Ariston L ; Yue, Mei ; Daughrity, Lillian ; Jansen-West, Karen R ; Cook, Casey N ; Dickson, Dennis W ; Petrucelli, Leonard ; Fryer, John D
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2020-12, Vol.8 (1), p.210-210, Article 210
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Investigating the Pathogenic Interplay of Alpha-Synuclein, Tau, and Amyloid Beta in Lewy Body Dementia: Insights from Viral-Mediated Overexpression in Transgenic Mouse Models
Author / Creator:Lim, Melina J ; Boschen, Suelen L ; Kurti, Aishe ; Castanedes Casey, Monica ; Phillips, Virginia R ; Fryer, John D ; Dickson, Dennis ; Jansen-West, Karen R ; Petrucelli, Leonard ; Delenclos, Marion ; McLean, Pamela J
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2023-10, Vol.11 (10), p.2863
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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
Author / Creator:Ma, X. Rosa ; Prudencio, Mercedes ; Koike, Yuka ; Vatsavayai, Sarat C. ; Kim, Garam ; Harbinski, Fred ; Briner, Adam ; Rodriguez, Caitlin M. ; Guo, Caiwei ; Akiyama, Tetsuya ; Schmidt, H. Broder ; Cummings, Beryl B. ; Wyatt, David W. ; Kurylo, Katherine ; Miller, Georgiana ; Mekhoubad, Shila ; Sallee, Nathan ; Mekonnen, Gemechu ; Ganser, Laura ; Rubien, Jack D. ; Jansen-West, Karen ; Cook, Casey N. ; Pickles, Sarah ; Oskarsson, Björn ; Graff-Radford, Neill R. ; Boeve, Bradley F. ; Knopman, David S. ; Petersen, Ronald C. ; Dickson, Dennis W. ; Shorter, James ; Myong, Sua ; Green, Eric M. ; Seeley, William W. ; Petrucelli, Leonard ; Gitler, Aaron D.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2022-03, Vol.603 (7899), p.124-130
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Aß40 displays amyloidogenic properties in the non-transgenic mouse brain but does not exacerbate Aß42 toxicity in Drosophila
Author / Creator:De Mena, Lorena ; Smith, Michael A ; Martin, Jason ; Dunton, Katie L ; Ceballos-Diaz, Carolina ; Jansen-West, Karen R ; Cruz, Pedro E ; Dillon, Kristy D ; Rincon-Limas, Diego E ; Golde, Todd E ; Moore, Brenda D ; Levites, Yona
Publisher:England: BioMed Central Ltd
Journal title:Alzheimer's research & therapy, 2020-10, Vol.12 (1), p.132-12, Article 132
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Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
Author / Creator:Zhang, Yong-Jie ; Gendron, Tania F. ; Ebbert, Mark T. W. ; O’Raw, Aliesha D. ; Yue, Mei ; Jansen-West, Karen ; Zhang, Xu ; Prudencio, Mercedes ; Chew, Jeannie ; Cook, Casey N. ; Daughrity, Lillian M. ; Tong, Jimei ; Song, Yuping ; Pickles, Sarah R. ; Castanedes-Casey, Monica ; Kurti, Aishe ; Rademakers, Rosa ; Oskarsson, Bjorn ; Dickson, Dennis W. ; Hu, Wenqian ; Gitler, Aaron D. ; Fryer, John D. ; Petrucelli, Leonard
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2018-08, Vol.24 (8), p.1136-1142
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Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
Author / Creator:Prudencio, Mercedes ; Humphrey, Jack ; Pickles, Sarah ; Brown, Anna-Leigh ; Hill, Sarah E ; Kachergus, Jennifer M ; Shi, J ; Heckman, Michael G ; Spiegel, Matthew R ; Cook, Casey ; Song, Yuping ; Yue, Mei ; Daughrity, Lillian M ; Carlomagno, Yari ; Jansen-West, Karen ; de Castro, Cristhoper Fernandez ; DeTure, Michael ; Koga, Shunsuke ; Wang, Ying-Chih ; Sivakumar, Prasanth ; Bodo, Cristian ; Candalija, Ana ; Talbot, Kevin ; Selvaraj, Bhuvaneish T ; Burr, Karen ; Chandran, Siddharthan ; Newcombe, Jia ; Lashley, Tammaryn ; Hubbard, Isabel ; Catalano, Demetra ; Kim, Duyang ; Propp, Nadia ; Fennessey, Samantha ; Fagegaltier, Delphine ; Phatnani, Hemali ; Secrier, Maria ; Fisher, Elizabeth Mc ; Oskarsson, Björn ; van Blitterswijk, Marka ; Rademakers, Rosa ; Graff-Radford, Neil R ; Boeve, Bradley F ; Knopman, David S ; Petersen, Ronald C ; Josephs, Keith A ; Thompson, E Aubrey ; Raj, Towfique ; Ward, Michael ; Dickson, Dennis W ; Gendron, Tania F ; Fratta, Pietro ; Petrucelli, Leonard
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2020-11, Vol.130 (11), p.6080-6092
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Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Author / Creator:Ash, Peter E.A. ; Bieniek, Kevin F. ; Gendron, Tania F. ; Caulfield, Thomas ; Lin, Wen-Lang ; DeJesus-Hernandez, Mariely ; van Blitterswijk, Marka M. ; Jansen-West, Karen ; Paul, Joseph W. ; Rademakers, Rosa ; Boylan, Kevin B. ; Dickson, Dennis W. ; Petrucelli, Leonard
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2013-02, Vol.77 (4), p.639-646
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CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts
Author / Creator:Tabet, Ricardos ; Schaeffer, Laure ; Freyermuth, Fernande ; Jambeau, Melanie ; Workman, Michael ; Lee, Chao-Zong ; Lin, Chun-Chia ; Jiang, Jie ; Jansen-West, Karen ; Abou-Hamdan, Hussein ; Désaubry, Laurent ; Gendron, Tania ; Petrucelli, Leonard ; Martin, Franck ; Lagier-Tourenne, Clotilde
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-01, Vol.9 (1), p.152-152, Article 152
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Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight
Author / Creator:Ebbert, Mark T W ; Jensen, Tanner D ; Jansen-West, Karen ; Sens, Jonathon P ; Reddy, Joseph S ; Ridge, Perry G ; Kauwe, John S K ; Belzil, Veronique ; Pregent, Luc ; Carrasquillo, Minerva M ; Keene, Dirk ; Larson, Eric ; Crane, Paul ; Asmann, Yan W ; Ertekin-Taner, Nilufer ; Younkin, Steven G ; Ross, Owen A ; Rademakers, Rosa ; Petrucelli, Leonard ; Fryer, John D
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2019-05, Vol.20 (1), p.97-97, Article 97
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Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity
Author / Creator:Nicholson, Alexandra M ; Zhou, Xiaolai ; Perkerson, Ralph B ; Parsons, Tammee M ; Chew, Jeannie ; Brooks, Mieu ; DeJesus-Hernandez, Mariely ; Finch, NiCole A ; Matchett, Billie J ; Kurti, Aishe ; Jansen-West, Karen R ; Perkerson, Emilie ; Daughrity, Lillian ; Castanedes-Casey, Monica ; Rousseau, Linda ; Phillips, Virginia ; Hu, Fenghua ; Gendron, Tania F ; Murray, Melissa E ; Dickson, Dennis W ; Fryer, John D ; Petrucelli, Leonard ; Rademakers, Rosa
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2018-05, Vol.6 (1), p.42-14, Article 42
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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Author / Creator:Gendron, Tania F. ; Bieniek, Kevin F. ; Zhang, Yong-Jie ; Jansen-West, Karen ; Ash, Peter E. A. ; Caulfield, Thomas ; Daughrity, Lillian ; Dunmore, Judith H. ; Castanedes-Casey, Monica ; Chew, Jeannie ; Cosio, Danielle M. ; van Blitterswijk, Marka ; Lee, Wing C. ; Rademakers, Rosa ; Boylan, Kevin B. ; Dickson, Dennis W. ; Petrucelli, Leonard
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2013-12, Vol.126 (6), p.829-844
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Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
Author / Creator:Zhang, Yong-Jie ; Jansen-West, Karen ; Xu, Ya-Fei ; Gendron, Tania F. ; Bieniek, Kevin F. ; Lin, Wen-Lang ; Sasaguri, Hiroki ; Caulfield, Thomas ; Hubbard, Jaime ; Daughrity, Lillian ; Chew, Jeannie ; Belzil, Veronique V. ; Prudencio, Mercedes ; Stankowski, Jeannette N. ; Castanedes-Casey, Monica ; Whitelaw, Ena ; Ash, Peter E. A. ; DeTure, Michael ; Rademakers, Rosa ; Boylan, Kevin B. ; Dickson, Dennis W. ; Petrucelli, Leonard
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2014-10, Vol.128 (4), p.505-524
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Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
Author / Creator:Chew, Jeannie ; Cook, Casey ; Gendron, Tania F ; Jansen-West, Karen ; Del Rosso, Giulia ; Daughrity, Lillian M ; Castanedes-Casey, Monica ; Kurti, Aishe ; Stankowski, Jeannette N ; Disney, Matthew D ; Rothstein, Jeffrey D ; Dickson, Dennis W ; Fryer, John D ; Zhang, Yong-Jie ; Petrucelli, Leonard
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2019-02, Vol.14 (1), p.9-15, Article 9
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TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A
Author / Creator:Koike, Yuka ; Pickles, Sarah ; Estades Ayuso, Virginia ; Jansen-West, Karen ; Qi, Yue A ; Li, Ziyi ; Daughrity, Lillian M ; Yue, Mei ; Zhang, Yong-Jie ; Cook, Casey N ; Dickson, Dennis W ; Ward, Michael ; Petrucelli, Leonard ; Prudencio, Mercedes
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2023-03, Vol.21 (3), p.e3002028-e3002028
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Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease
Author / Creator:Ebbert, Mark T W ; Farrugia, Stefan L ; Sens, Jonathon P ; Jansen-West, Karen ; Gendron, Tania F ; Prudencio, Mercedes ; McLaughlin, Ian J ; Bowman, Brett ; Seetin, Matthew ; DeJesus-Hernandez, Mariely ; Jackson, Jazmyne ; Brown, Patricia H ; Dickson, Dennis W ; van Blitterswijk, Marka ; Rademakers, Rosa ; Petrucelli, Leonard ; Fryer, John D
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2018-08, Vol.13 (1), p.46-17, Article 46
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Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9orf72 disease

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Progranulin regulates neuronal outgrowth independent of sortilin

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Astrocyte-derived clusterin suppresses amyloid formation in vivo

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Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

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Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency

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Clusterin ameliorates tau pathology in vivo by inhibiting fibril formation

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Investigating the Pathogenic Interplay of Alpha-Synuclein, Tau, and Amyloid Beta in Lewy Body Dementia: Insights from Viral-Mediated Overexpression in Transgenic Mouse Models

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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

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Aß40 displays amyloidogenic properties in the non-transgenic mouse brain but does not exacerbate Aß42 toxicity in Drosophila

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Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

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Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

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Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

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CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

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Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

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Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

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Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

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Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

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TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A

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Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

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