Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert-Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie-Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs. EMBO Mol Med 2018
Times Cited: 106
Times Cited: 106
Times Cited
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Similarity
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson,[...]. Neuron 2011
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.
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Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.
Zhaoming Su, Yongjie Zhang, Tania F Gendron, Peter O Bauer, Jeannie Chew, Wang-Yong Yang, Erik Fostvedt, Karen Jansen-West, Veronique V Belzil, Pamela Desaro,[...]. Neuron 2014
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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
Kohji Mori, Shih-Ming Weng, Thomas Arzberger, Stephanie May, Kristin Rentzsch, Elisabeth Kremmer, Bettina Schmid, Hans A Kretzschmar, Marc Cruts, Christine Van Broeckhoven,[...]. Science 2013
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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.
Jie Jiang, Qiang Zhu, Tania F Gendron, Shahram Saberi, Melissa McAlonis-Downes, Amanda Seelman, Jennifer E Stauffer, Paymaan Jafar-Nejad, Kevin Drenner, Derek Schulte,[...]. Neuron 2016
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RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.
Christopher J Donnelly, Ping-Wu Zhang, Jacqueline T Pham, Aaron R Haeusler, Nipun A Mistry, Svetlana Vidensky, Elizabeth L Daley, Erin M Poth, Benjamin Hoover, Daniel M Fines,[...]. Neuron 2013
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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Ke Zhang, Christopher J Donnelly, Aaron R Haeusler, Jonathan C Grima, James B Machamer, Peter Steinwald, Elizabeth L Daley, Sean J Miller, Kathleen M Cunningham, Svetlana Vidensky,[...]. Nature 2015
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TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins.
Bita Zamiri, Kaalak Reddy, Robert B Macgregor, Christopher E Pearson. J Biol Chem 2014
Bita Zamiri, Kaalak Reddy, Robert B Macgregor, Christopher E Pearson. J Biol Chem 2014
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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Sarah Mizielinska, Sebastian Grönke, Teresa Niccoli, Charlotte E Ridler, Emma L Clayton, Anny Devoy, Thomas Moens, Frances E Norona, Ione O C Woollacott, Julian Pietrzyk,[...]. Science 2014
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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
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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.
Tania F Gendron, Kevin F Bieniek, Yong-Jie Zhang, Karen Jansen-West, Peter E A Ash, Thomas Caulfield, Lillian Daughrity, Judith H Dunmore, Monica Castanedes-Casey, Jeannie Chew,[...]. Acta Neuropathol 2013
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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
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The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures.
Kaalak Reddy, Bita Zamiri, Sabrina Y R Stanley, Robert B Macgregor, Christopher E Pearson. J Biol Chem 2013
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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.
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Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death.
Xinmei Wen, Wenzhi Tan, Thomas Westergard, Karthik Krishnamurthy, Shashirekha S Markandaiah, Yingxiao Shi, Shaoyu Lin, Neil A Shneider, John Monaghan, Udai B Pandey,[...]. Neuron 2014
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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes.
Pietro Fratta, Sarah Mizielinska, Andrew J Nicoll, Mire Zloh, Elizabeth M C Fisher, Gary Parkinson, Adrian M Isaacs. Sci Rep 2012
Pietro Fratta, Sarah Mizielinska, Andrew J Nicoll, Mire Zloh, Elizabeth M C Fisher, Gary Parkinson, Adrian M Isaacs. Sci Rep 2012
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C9orf72-mediated ALS and FTD: multiple pathways to disease.
Rubika Balendra, Adrian M Isaacs. Nat Rev Neurol 2018
Rubika Balendra, Adrian M Isaacs. Nat Rev Neurol 2018
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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
Clotilde Lagier-Tourenne, Michael Baughn, Frank Rigo, Shuying Sun, Patrick Liu, Hai-Ri Li, Jie Jiang, Andrew T Watt, Seung Chun, Melanie Katz,[...]. Proc Natl Acad Sci U S A 2013
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The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains.
Erin G Conlon, Lei Lu, Aarti Sharma, Takashi Yamazaki, Timothy Tang, Neil A Shneider, James L Manley. Elife 2016
Erin G Conlon, Lei Lu, Aarti Sharma, Takashi Yamazaki, Timothy Tang, Neil A Shneider, James L Manley. Elife 2016
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Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
Yingxiao Shi, Shaoyu Lin, Kim A Staats, Yichen Li, Wen-Hsuan Chang, Shu-Ting Hung, Eric Hendricks, Gabriel R Linares, Yaoming Wang, Esther Y Son,[...]. Nat Med 2018
Yingxiao Shi, Shaoyu Lin, Kim A Staats, Yichen Li, Wen-Hsuan Chang, Shu-Ting Hung, Eric Hendricks, Gabriel R Linares, Yaoming Wang, Esther Y Son,[...]. Nat Med 2018
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Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
Kohji Mori, Thomas Arzberger, Friedrich A Grässer, Ilse Gijselinck, Stephanie May, Kristin Rentzsch, Shih-Ming Weng, Martin H Schludi, Julie van der Zee, Marc Cruts,[...]. Acta Neuropathol 2013
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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.
Dhruv Sareen, Jacqueline G O'Rourke, Pratap Meera, A K M G Muhammad, Sharday Grant, Megan Simpkinson, Shaughn Bell, Sharon Carmona, Loren Ornelas, Anais Sahabian,[...]. Sci Transl Med 2013
Dhruv Sareen, Jacqueline G O'Rourke, Pratap Meera, A K M G Muhammad, Sharday Grant, Megan Simpkinson, Shaughn Bell, Sharon Carmona, Loren Ornelas, Anais Sahabian,[...]. Sci Transl Med 2013
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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells.
Ilmin Kwon, Siheng Xiang, Masato Kato, Leeju Wu, Pano Theodoropoulos, Tao Wang, Jiwoong Kim, Jonghyun Yun, Yang Xie, Steven L McKnight. Science 2014
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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
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Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.
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Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration.
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The Hairpin Form of r(G4C2)exp in c9ALS/FTD Is Repeat-Associated Non-ATG Translated and a Target for Bioactive Small Molecules.
Zi-Fu Wang, Andrei Ursu, Jessica L Childs-Disney, Rea Guertler, Wang-Yong Yang, Viachaslau Bernat, Suzanne G Rzuczek, Rita Fuerst, Yong-Jie Zhang, Tania F Gendron,[...]. Cell Chem Biol 2019
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C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
Sarah Mizielinska, Tammaryn Lashley, Frances E Norona, Emma L Clayton, Charlotte E Ridler, Pietro Fratta, Adrian M Isaacs. Acta Neuropathol 2013
Sarah Mizielinska, Tammaryn Lashley, Frances E Norona, Emma L Clayton, Charlotte E Ridler, Pietro Fratta, Adrian M Isaacs. Acta Neuropathol 2013
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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.
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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.
Ana Jovičić, Jerome Mertens, Steven Boeynaems, Elke Bogaert, Noori Chai, Shizuka B Yamada, Joseph W Paul, Shuying Sun, Joseph R Herdy, Gregor Bieri,[...]. Nat Neurosci 2015
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Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.
Tania F Gendron, Jeannie Chew, Jeannette N Stankowski, Lindsey R Hayes, Yong-Jie Zhang, Mercedes Prudencio, Yari Carlomagno, Lillian M Daughrity, Karen Jansen-West, Emilie A Perkerson,[...]. Sci Transl Med 2017
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Non-ATG-initiated translation directed by microsatellite expansions.
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C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.
Kyung-Ha Lee, Peipei Zhang, Hong Joo Kim, Diana M Mitrea, Mohona Sarkar, Brian D Freibaum, Jaclyn Cika, Maura Coughlin, James Messing, Amandine Molliex,[...]. Cell 2016
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C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.
Yong-Jie Zhang, Tania F Gendron, Jonathan C Grima, Hiroki Sasaguri, Karen Jansen-West, Ya-Fei Xu, Rebecca B Katzman, Jennifer Gass, Melissa E Murray, Mitsuru Shinohara,[...]. Nat Neurosci 2016
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Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.
Nicholas J Kramer, Yari Carlomagno, Yong-Jie Zhang, Sandra Almeida, Casey N Cook, Tania F Gendron, Mercedes Prudencio, Marka Van Blitterswijk, Veronique Belzil, Julien Couthouis,[...]. Science 2016
Nicholas J Kramer, Yari Carlomagno, Yong-Jie Zhang, Sandra Almeida, Casey N Cook, Tania F Gendron, Mercedes Prudencio, Marka Van Blitterswijk, Veronique Belzil, Julien Couthouis,[...]. Science 2016
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Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Yong-Jie Zhang, Tania F Gendron, Mark T W Ebbert, Aliesha D O'Raw, Mei Yue, Karen Jansen-West, Xu Zhang, Mercedes Prudencio, Jeannie Chew, Casey N Cook,[...]. Nat Med 2018
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C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.
Yuanjing Liu, Amrutha Pattamatta, Tao Zu, Tammy Reid, Olgert Bardhi, David R Borchelt, Anthony T Yachnis, Laura P W Ranum. Neuron 2016
Yuanjing Liu, Amrutha Pattamatta, Tao Zu, Tammy Reid, Olgert Bardhi, David R Borchelt, Anthony T Yachnis, Laura P W Ranum. Neuron 2016
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C9orf72 is required for proper macrophage and microglial function in mice.
J G O'Rourke, L Bogdanik, A Yáñez, D Lall, A J Wolf, A K M G Muhammad, R Ho, S Carmona, J P Vit, J Zarrow,[...]. Science 2016
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Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis.
Shahram Saberi, Jennifer E Stauffer, Jie Jiang, Sandra Diaz Garcia, Amy E Taylor, Derek Schulte, Takuya Ohkubo, Cheyenne L Schloffman, Marcus Maldonado, Michael Baughn,[...]. Acta Neuropathol 2018
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G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome.
Roberto Simone, Pietro Fratta, Stephen Neidle, Gary N Parkinson, Adrian M Isaacs. FEBS Lett 2015
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The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD.
Brian D Freibaum, J Paul Taylor. Front Mol Neurosci 2017
Brian D Freibaum, J Paul Taylor. Front Mol Neurosci 2017
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Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.
Helene Tran, Sandra Almeida, Jill Moore, Tania F Gendron, UmaDevi Chalasani, Yubing Lu, Xing Du, Jeffrey A Nickerson, Leonard Petrucelli, Zhiping Weng,[...]. Neuron 2015
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Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.
Johnathan Cooper-Knock, Matthew J Walsh, Adrian Higginbottom, J Robin Highley, Mark J Dickman, Dieter Edbauer, Paul G Ince, Stephen B Wharton, Stuart A Wilson, Janine Kirby,[...]. Brain 2014
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C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.
Amanda Atanasio, Vilma Decman, Derek White, Meg Ramos, Burcin Ikiz, Hoi-Ching Lee, Chia-Jen Siao, Susannah Brydges, Elizabeth LaRosa, Yu Bai,[...]. Sci Rep 2016
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G-quadruplex structures mark human regulatory chromatin.
Robert Hänsel-Hertsch, Dario Beraldi, Stefanie V Lensing, Giovanni Marsico, Katherine Zyner, Aled Parry, Marco Di Antonio, Jeremy Pike, Hiroshi Kimura, Masashi Narita,[...]. Nat Genet 2016
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Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
Chantal Sellier, Maria-Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb-Cheynel, Mustapha Oulad-Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi,[...]. EMBO J 2016
Chantal Sellier, Maria-Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb-Cheynel, Mustapha Oulad-Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi,[...]. EMBO J 2016
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Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.
Jeannie Chew, Tania F Gendron, Mercedes Prudencio, Hiroki Sasaguri, Yong-Jie Zhang, Monica Castanedes-Casey, Chris W Lee, Karen Jansen-West, Aishe Kurti, Melissa E Murray,[...]. Science 2015
Jeannie Chew, Tania F Gendron, Mercedes Prudencio, Hiroki Sasaguri, Yong-Jie Zhang, Monica Castanedes-Casey, Chris W Lee, Karen Jansen-West, Aishe Kurti, Melissa E Murray,[...]. Science 2015
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Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.
Ke Zhang, J Gavin Daigle, Kathleen M Cunningham, Alyssa N Coyne, Kai Ruan, Jonathan C Grima, Kelly E Bowen, Harsh Wadhwa, Peiguo Yang, Frank Rigo,[...]. Cell 2018
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Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD.
Bo Zhou, Changdong Liu, Yanyan Geng, Guang Zhu. Sci Rep 2015
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