Citations 4
C9orf72 -derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility
Fumagalli, Laura , Young, Florence L. , Boeynaems, Steven , Decker, Mathias De , Mehta, Arpan R. , Swijsen, Ann, Fazal, Raheem , Guo, Wenting , Beckers, Jimmy , Dedeene, Lieselot , Selvaraj, Bhuvaneish T. , Vandoorne, Tijs , Madan, Vanesa, Blitterswijk, Marka van , Raitcheva, Denitza , McCampbell, Alexander , Poesen, Koen , Gitler, Aaron D. , Koch, Philipp , Berghe, Pieter Vanden , Thal, Dietmar Rudolf , Bosch, Ludo Van Den , Bullock, Simon L. , Damme, Philip Van , Moisse, Matthieu , Dedeene, Lieselot , Selvaraj, Bhuvaneish T , van Blitterswijk, Marka , Raitcheva, Denitza , McCampbell, Alexander , Gitler, Aaron D , Koch, Philipp , Vanden Berghe, Pieter , Thal, Dietmar Rudolf , Verfaillie, Catherine , Van Den Bosch, Ludo , Bullock, Simon L , Van Damme, Philip , Moisse, Matthieu , Verfaillie, Catherine M. , Chandran, Siddharthan
Science Advances | April 9, 2021 | Volume: 7 | Issue: 15 | Pages: No page available
Arginine-rich dipeptide repeats associated with ALS and FTD inhibit machinery for microtubule-based axonal cargo transport.
C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy
Cook, Casey , Wu, Yanwei , Odeh, Hana M. , Gendron, Tania F. , Jansen‐West, Karen , Rosso, Giulia del, Yue, Mei, Jiang, Peizhou , Gomes, Edward, Tong, Jimei, Daughrity, Lillian M. , Avendano, Nicole M., Castanedes‐Casey, Monica , Shao, Wei , Oskarsson, Björn , Tomassy, Giulio Srubek, McCampbell, Alexander , Rigo, Frank , Zhang, Yong‐Jie , Petrucelli, Leonard , Cook, Casey N , Del Rosso, Giulia, Dickson, Dennis W , Shorter, James , Zhang, Yong-Jie , Petrucelli, Leonard , Oskarsson, Björn , Gendron, Tania F , Shao, Wei , Dickson, Dennis W. , Shorter, James
Science Translational Medicine | September 2, 2020 | Volume: 12 | Issue: 559 | Pages: No page available
G 4 C 2 repeat–derived poly(GR) plays a key role in mediating TDP-43 mislocalization and aggregation in vitro and in vivo.
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity
Zhang, Yong‐Jie , Guo, Lin , Gonzales, Patrick , Gendron, Tania F. , Wu, Yanwei , Jansen‐West, Karen , O’Raw, Aliesha D. , Pickles, Sarah , Prudencio, Mercedes , Carlomagno, Yari , Gachechiladze, Mariam A. , Tian, Ruilin , Chew, Jeannie , DeTure, Michael , Lin, Wen-Lang, Tong, Jimei, Daughrity, Lillian M. , Yue, Mei, Song, Yuping , Andersen, Jonathan W. , Castanedes‐Casey, Monica , Kurti, Aishe, Antognetti, Giovanna, McCampbell, Alexander , Rademakers, Rosa , Oskarsson, Björn , Kampmann, Martin , Ward, Michael E. , Fryer, John Denis , Link, Christopher D. , Shorter, James , Petrucelli, Leonard , Gonzales, Patrick K , Pickles, Sarah R , Chew, Jeannie , DeTure, Michael , Daughrity, Lillian M , Castanedes-Casey, Monica , McCampbell, Alexander , Rademakers, Rosa , Oskarsson, Björn , Dickson, Dennis W , Kampmann, Martin , Ward, Michael E , Shorter, James , Petrucelli, Leonard , Zhang, Yong-Jie , Prudencio, Mercedes , O'Raw, Aliesha , Gendron, Tania F , Guo, Lin , Ludwig, Connor , Datta, Abhishek, Dickson, Dennis W.
Science | February 15, 2019 | Volume: 363 | Issue: 6428 | Pages: No page available
How dipeptide repeats cause pathology A repeat expansion in the chromosome 9 open reading frame 72 ( C9orf72 ) gene is the most common known cause of two neurodegenerative diseases: frontotemporal dementia and amyotrophic lateral sclerosis. This expansion leads to the abnormal production of proteins of repeating dipeptides, but their contribution to disease pathogenesis remains unclear. Zhang et al. engineered a mouse model to study the consequences of one of these dipeptides—prolinearginine dipeptide repeat protein, poly(PR)—in the brain. They found that poly(PR) caused neuron loss as well as motor and memory impairments. These detrimental effects resulted from poly(PR)-induced perturbation of heterochromatin function, a tightly packed form of DNA that represses gene expression. Science , this issue p. eaav2606
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis
Chew, Jeannie , Stankowski, Jeannette N. , Hayes, Lindsey R. , Zhang, Yong‐Jie , Prudencio, Mercedes , Carlomagno, Yari , Daughrity, Lillian M. , Jansen‐West, Karen , Perkerson, Emilie A., O’Raw, Aliesha D. , Cook, Casey , Pregent, Luc , Belzil, Véronique , Blitterswijk, Marka van , Tabassian, Lilia J., Lee, Chris W. , Yue, Mei, Tong, Jimei, Song, Yuping , Castanedes‐Casey, Monica , Rousseau, Linda , Phillips, Virginia , Rademakers, Rosa , Fryer, John Denis , Rush, Beth , Pedraza, Otto , Caputo, Ana M., Desaro, Pamela , Palmucci, Carla, Robertson, A. , Diehl, Nancy N. , Wiggs, Edythe, Tierney, Michael , Braun, Laura, Farren, Jennifer, Lacomis, David , Fournier, Christina , McCluskey, Leo, Elman, Lauren , Toledo, Jon B. , McBride, Jennifer D. , Tiloca, Cinzia , Morelli, Claudia , Poletti, Barbara , Solca, Federica , Wuu, Joanne , Jockel‐Balsarotti, Jennifer , Rigo, Frank , Ambrose, Christine, Yang, Weixing , Raitcheva, Denitza , Antognetti, Giovanna, McCampbell, Alexander , Boxer, Adam L. , Brown, Robert H. , Bowser, Robert , Miller, Timothy M. , Trojanowski, John Q. , Hu, William T. , Ratti, Antonia , Benatar, Michael , Glass, Jonathan D. , Floeter, Mary Kay, Petrucelli, Leonard , Gendron, Tania F. , Zhang, Yong-Jie , Prudencio, Mercedes , Carlomagno, Yari , Jansen-West, Karen, O'Raw, Aliesha , Pregent, Luc , Belzil, Veronique , van Blitterswijk, Marka , Castanedes-Casey, Monica , Rousseau, Linda , Phillips, Virginia , Rademakers, Rosa , Fryer, John D., Desaro, Pamela , Palmucci, Carla , Robertson, Amelia , Lacomis, David , Ladha, Shafeeq , Tiloca, Cinzia , Poletti, Barbara , Solca, Federica , Prelle, Alessandro , Jockel-Balsarotti, Jennifer , Yang, Weixing , Raitcheva, Denitza , Benatar, Michael , Silani, Vincenzo , Boylan, Kevin B, Petrucelli, Leonard , Dickson, Dennis W. , Heckman, Michael G. , Ladha, Shafeeq , Datta, Abhishek , Swieten, John C. van , Miller, Bruce L. , Grossman, Murray , Berry, James D. , Traynor, Bryan J. , Disney, Matthew D. , Silani, Vincenzo , Rothstein, Jeffrey D. , Boylan, Khrista , Hu, William T.
Science Translational Medicine | March 29, 2017 | Volume: 9 | Issue: 383 | Pages: No page available
Poly(GP) proteins are a promising pharmacodynamic marker for developing and testing therapeutics for treating C9ORF72 -associated amyotrophic lateral sclerosis.