Converging pathways in neurodegeneration, from genetics to mechanisms
Gan, Li, Cookson, Mark R., Petrucelli, Leonard, La Spada, Albert R.
Published in Nature neuroscience (01.10.2018)
Published in Nature neuroscience (01.10.2018)
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Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons
Lopez-Gonzalez, Rodrigo, Lu, Yubing, Gendron, Tania F., Karydas, Anna, Tran, Helene, Yang, Dejun, Petrucelli, Leonard, Miller, Bruce L., Almeida, Sandra, Gao, Fen-Biao
Published in Neuron (Cambridge, Mass.) (19.10.2016)
Published in Neuron (Cambridge, Mass.) (19.10.2016)
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Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes
Vu, Lucas, An, Jiyan, Kovalik, Tina, Gendron, Tania, Petrucelli, Leonard, Bowser, Robert
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2020)
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Posttranslational Modifications Mediate the Structural Diversity of Tauopathy Strains
Arakhamia, Tamta, Lee, Christina E., Carlomagno, Yari, Kumar, Mukesh, Duong, Duc M., Wesseling, Hendrik, Kundinger, Sean R., Wang, Kevin, Williams, Dewight, DeTure, Michael, Dickson, Dennis W., Cook, Casey N., Seyfried, Nicholas T., Petrucelli, Leonard, Steen, Judith A., Fitzpatrick, Anthony W.P.
Published in Cell (20.02.2020)
Published in Cell (20.02.2020)
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Cellular and pathological heterogeneity of primary tauopathies
Chung, Dah-Eun Chloe, Roemer, Shanu, Petrucelli, Leonard, Dickson, Dennis W
Published in Molecular neurodegeneration (23.08.2021)
Published in Molecular neurodegeneration (23.08.2021)
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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Freibaum, Brian D., Lu, Yubing, Lopez-Gonzalez, Rodrigo, Kim, Nam Chul, Almeida, Sandra, Lee, Kyung-Ha, Badders, Nisha, Valentine, Marc, Miller, Bruce L., Wong, Philip C., Petrucelli, Leonard, Kim, Hong Joo, Gao, Fen-Biao, Taylor, J. Paul
Published in Nature (London) (03.09.2015)
Published in Nature (London) (03.09.2015)
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TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
Mackenzie, Ian R., Nicholson, Alexandra M., Sarkar, Mohona, Messing, James, Purice, Maria D., Pottier, Cyril, Annu, Kavya, Baker, Matt, Perkerson, Ralph B., Kurti, Aishe, Matchett, Billie J., Mittag, Tanja, Temirov, Jamshid, Hsiung, Ging-Yuek R., Krieger, Charles, Murray, Melissa E., Kato, Masato, Fryer, John D., Petrucelli, Leonard, Zinman, Lorne, Weintraub, Sandra, Mesulam, Marsel, Keith, Julia, Zivkovic, Sasha A., Hirsch-Reinshagen, Veronica, Roos, Raymond P., Züchner, Stephan, Graff-Radford, Neill R., Petersen, Ronald C., Caselli, Richard J., Wszolek, Zbigniew K., Finger, Elizabeth, Lippa, Carol, Lacomis, David, Stewart, Heather, Dickson, Dennis W., Kim, Hong Joo, Rogaeva, Ekaterina, Bigio, Eileen, Boylan, Kevin B., Taylor, J. Paul, Rademakers, Rosa
Published in Neuron (Cambridge, Mass.) (16.08.2017)
Published in Neuron (Cambridge, Mass.) (16.08.2017)
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Microglial translational profiling reveals a convergent APOE pathway from aging, amyloid, and tau
Kang, Silvia S, Ebbert, Mark T W, Baker, Kelsey E, Cook, Casey, Wang, Xuewei, Sens, Jonathon P, Kocher, Jeanne-Pierre, Petrucelli, Leonard, Fryer, John D
Published in The Journal of experimental medicine (03.09.2018)
Published in The Journal of experimental medicine (03.09.2018)
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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
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.
Published in Nature (London) (03.03.2022)
Published in Nature (London) (03.03.2022)
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Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72
Zhu, Qiang, Jiang, Jie, Gendron, Tania F., McAlonis-Downes, Melissa, Jiang, Lulin, Taylor, Amy, Diaz Garcia, Sandra, Ghosh Dastidar, Somasish, Rodriguez, Maria J., King, Patrick, Zhang, Yongjie, La Spada, Albert R., Xu, Huaxi, Petrucelli, Leonard, Ravits, John, Da Cruz, Sandrine, Lagier-Tourenne, Clotilde, Cleveland, Don W.
Published in Nature neuroscience (01.05.2020)
Published in Nature neuroscience (01.05.2020)
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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs
Jiang, Jie, Zhu, Qiang, Gendron, Tania F., Saberi, Shahram, McAlonis-Downes, Melissa, Seelman, Amanda, Stauffer, Jennifer E., Jafar-nejad, Paymaan, Drenner, Kevin, Schulte, Derek, Chun, Seung, Sun, Shuying, Ling, Shuo-Chien, Myers, Brian, Engelhardt, Jeffery, Katz, Melanie, Baughn, Michael, Platoshyn, Oleksandr, Marsala, Martin, Watt, Andy, Heyser, Charles J., Ard, M. Colin, De Muynck, Louis, Daughrity, Lillian M., Swing, Deborah A., Tessarollo, Lino, Jung, Chris J., Delpoux, Arnaud, Utzschneider, Daniel T., Hedrick, Stephen M., de Jong, Pieter J., Edbauer, Dieter, Van Damme, Philip, Petrucelli, Leonard, Shaw, Christopher E., Bennett, C. Frank, Da Cruz, Sandrine, Ravits, John, Rigo, Frank, Cleveland, Don W., Lagier-Tourenne, Clotilde
Published in Neuron (Cambridge, Mass.) (04.05.2016)
Published in Neuron (Cambridge, Mass.) (04.05.2016)
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TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD
Chou, Ching-Chieh, Zhang, Yi, Umoh, Mfon E., Vaughan, Spencer W., Lorenzini, Ileana, Liu, Feilin, Sayegh, Melissa, Donlin-Asp, Paul G., Chen, Yu Han, Duong, Duc M., Seyfried, Nicholas T., Powers, Maureen A., Kukar, Thomas, Hales, Chadwick M., Gearing, Marla, Cairns, Nigel J., Boylan, Kevin B., Dickson, Dennis W., Rademakers, Rosa, Zhang, Yong-Jie, Petrucelli, Leonard, Sattler, Rita, Zarnescu, Daniela C., Glass, Jonathan D., Rossoll, Wilfried
Published in Nature neuroscience (01.02.2018)
Published in Nature neuroscience (01.02.2018)
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TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A
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
Published in PLoS biology (17.03.2023)
Published in PLoS biology (17.03.2023)
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ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43
Stoica, Radu, De Vos, Kurt J., Paillusson, Sébastien, Mueller, Sarah, Sancho, Rosa M., Lau, Kwok-Fai, Vizcay-Barrena, Gema, Lin, Wen-Lang, Xu, Ya-Fei, Lewis, Jada, Dickson, Dennis W., Petrucelli, Leonard, Mitchell, Jacqueline C., Shaw, Christopher E., Miller, Christopher C. J.
Published in Nature communications (03.06.2014)
Published in Nature communications (03.06.2014)
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Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance
Cook, Casey, Carlomagno, Yari, Gendron, Tania F, Dunmore, Judy, Scheffel, Kristyn, Stetler, Caroline, Davis, Mary, Dickson, Dennis, Jarpe, Matthew, DeTure, Michael, Petrucelli, Leonard
Published in Human molecular genetics (01.01.2014)
Published in Human molecular genetics (01.01.2014)
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Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
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
Published in The Journal of clinical investigation (01.11.2020)
Published in The Journal of clinical investigation (01.11.2020)
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Journal Article
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Donnelly, Christopher J., Zhang, Ping-Wu, Pham, Jacqueline T., Haeusler, Aaron R., Mistry, Nipun A., Vidensky, Svetlana, Daley, Elizabeth L., Poth, Erin M., Hoover, Benjamin, Fines, Daniel M., Maragakis, Nicholas, Tienari, Pentti J., Petrucelli, Leonard, Traynor, Bryan J., Wang, Jiou, Rigo, Frank, Bennett, C. Frank, Blackshaw, Seth, Sattler, Rita, Rothstein, Jeffrey D.
Published in Neuron (Cambridge, Mass.) (16.10.2013)
Published in Neuron (Cambridge, Mass.) (16.10.2013)
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