Search Results - "Leonard Petrucelli"

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS by Cook, Casey, Petrucelli, Leonard

“…Amyotrophic lateral sclerosis (ALS) is an aggressive neurodegenerative disorder that orchestrates an attack on the motor nervous system that is unrelenting…”
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Converging pathways in neurodegeneration, from genetics to mechanisms by Gan, Li, Cookson, Mark R., Petrucelli, Leonard, La Spada, Albert R.

“…Neurodegenerative diseases cause progressive loss of cognitive and/or motor function and pose major challenges for societies with rapidly aging populations…”
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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 by Lopez-Gonzalez, Rodrigo, Lu, Yubing, Gendron, Tania F., Karydas, Anna, Tran, Helene, Yang, Dejun, Petrucelli, Leonard, Miller, Bruce L., Almeida, Sandra, Gao, Fen-Biao

“…GGGGCC repeat expansions in C9ORF72 are the most common genetic cause of both ALS and FTD. To uncover underlying pathogenic mechanisms, we found that DNA…”
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Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes by Vu, Lucas, An, Jiyan, Kovalik, Tina, Gendron, Tania, Petrucelli, Leonard, Bowser, Robert

“…ObjectiveAmyotrophic lateral sclerosis (ALS) is a complex disease with numerous pathological mechanisms resulting in a heterogeneous patient population. Using…”
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Posttranslational Modifications Mediate the Structural Diversity of Tauopathy Strains by 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.

“…Tau aggregation into insoluble filaments is the defining pathological hallmark of tauopathies. However, it is not known what controls the formation and…”
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Cellular and pathological heterogeneity of primary tauopathies by Chung, Dah-Eun Chloe, Roemer, Shanu, Petrucelli, Leonard, Dickson, Dennis W

“…Microtubule-associated protein tau is abnormally aggregated in neuronal and glial cells in a range of neurodegenerative diseases that are collectively referred…”
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The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons by Wang, Wenzhang, Li, Li, Lin, Wen-Lang, Dickson, Dennis W, Petrucelli, Leonard, Zhang, Teng, Wang, Xinglong

“…Mutations in TDP-43 lead to familial ALS. Expanding evidence suggests that impaired mitochondrial dynamics likely contribute to the selective degeneration of…”
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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport by 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

“…An unbiased genetic screen in Drosophila expressing G 4 C 2 -repeat-containing transcripts (repeats that in human cause pathogenesis in C9orf72 -related…”
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TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics by 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

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and…”
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The role of tau in neurodegeneration by Gendron, Tania F, Petrucelli, Leonard

“…Since the identification of tau as the main component of neurofibrillary tangles in Alzheimer's disease and related tauopathies, and the discovery that…”
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Microglial translational profiling reveals a convergent APOE pathway from aging, amyloid, and tau by 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

“…Alzheimer's disease (AD) is an age-associated neurodegenerative disease characterized by amyloidosis, tauopathy, and activation of microglia, the brain…”
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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A by 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.

“…A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of…”
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Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72 by 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.

“…Hexanucleotide expansions in C9orf72 , which encodes a predicted guanine exchange factor, are the most frequent genetic cause of amyotrophic lateral sclerosis…”
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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs by 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

“…Hexanucleotide expansions in C9ORF72 are the most frequent genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Disease mechanisms were…”
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TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD by 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

“…The cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43 (TDP-43) is a common histopathological hallmark of the amyotrophic lateral…”
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TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A by 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

“…A major function of TAR DNA-binding protein-43 (TDP-43) is to repress the inclusion of cryptic exons during RNA splicing. One of these cryptic exons is in…”
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ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43 by 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.

“…Mitochondria and the endoplasmic reticulum (ER) form tight structural associations and these facilitate a number of cellular functions. However, the mechanisms…”
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Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance by Cook, Casey, Carlomagno, Yari, Gendron, Tania F, Dunmore, Judy, Scheffel, Kristyn, Stetler, Caroline, Davis, Mary, Dickson, Dennis, Jarpe, Matthew, DeTure, Michael, Petrucelli, Leonard

“…The accumulation of hyperphosphorylated tau in neurofibrillary tangles (NFTs) is a neuropathological hallmark of tauopathies, including Alzheimer's disease…”
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Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia by 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

“…No treatment for frontotemporal dementia (FTD), the second most common type of early-onset dementia, is available, but therapeutics are being investigated to…”
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RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention by 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.

“…A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72 gene is the most common genetic abnormality in familial and sporadic…”
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