Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Boeve, Bradley F., Boxer, Adam L., Baker, Matt, Rutherford, Nicola J., Nicholson, Alexandra M., Finch, NiCole A. +20 more·2011·Neuron
Cited by (1,058)
Items 201–300 of 1,058
- RNA Polymerase II cluster dynamics predict mRNA output in living cellsWon‐Ki Cho, Namrata Jayanth, Brian P. English, Takuma Inoue, J Owen Andrews, William Conway, Jonathan B. Grimm, Jan-Hendrik Spille, Luke D. Lavis, Timothée Lionnet et al. · 2016 · eLife
- <i>SQSTM1</i>
mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosisRubino, Elisa, Rainero, Innocenzo, Chiò, Adriano, Rogaeva, Ekaterina, Galimberti, Daniela, Fenoglio, Pierpaola, Grinberg, Yakov, Isaia, Giancarlo, Calvo, Andrea, Gentile, Salvatore et al. · 2012 · Neurology
- Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisJulien Couthouis, Michael P. Hart, Renske Erion, Oliver D. King, Zamia Diaz, Tadashi Nakaya, Fadia Ibrahim, Hyung-Jun Kim, Jelena Mojsilovic‐Petrovic, Saarene Panossian et al. · 2012 · Human Molecular Genetics
- On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instabilityKhristich, Alexandra N., Mirkin, Sergei M. · 2020 · Journal of Biological Chemistry
- Antisense oligonucleotides in therapy for neurodegenerative disordersMelvin M. Evers, Lodewijk J.A. Toonen, Willeke van Roon‐Mom · 2015 · Advanced Drug Delivery Reviews
- Neuropathology of amyotrophic lateral sclerosis and its variantsSaberi, Shahram, Stauffer, Jennifer E., Schulte, Derek J., Ravits, John · 2015 · Neurologic Clinics
- Loss-of-function mutations in the
<i>C9ORF72</i>
mouse ortholog cause fatal autoimmune diseaseBurberry, Aaron, Suzuki, Naoki, Wang, Jin-Yuan, Moccia, Rob, Mordes, Daniel A., Stewart, Morag H., Suzuki-Uematsu, Satomi, Ghosh, Sulagna, Singh, Ajay, Merkle, Florian T. et al. · 2016 · Science Translational Medicine
- Gene discovery in amyotrophic lateral sclerosis: implications for clinical managementAl-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan · 2017 · Nature Reviews Neurology
- The genetics and neuropathology of frontotemporal lobar degenerationSieben, Anne, Van Langenhove, Tim, Engelborghs, Sebastiaan, Martin, Jean-Jacques, Boon, Paul, Cras, Patrick, De Deyn, Peter-Paul, Santens, Patrick, Van Broeckhoven, Christine, Cruts, Marc · 2012 · Acta Neuropathologica
- C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in miceAtanasio, Amanda, Decman, Vilma, White, Derek, Ramos, Meg, Ikiz, Burcin, Lee, Hoi-Ching, Siao, Chia-Jen, Brydges, Susannah, LaRosa, Elizabeth, Bai, Yu et al. · 2016 · Scientific Reports
- The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brainsErin G. Conlon, Lei Lü, Aarti Sharma, Takashi Yamazaki, Timothy K. K. Tang, Neil A. Shneider, James L. Manley · 2016 · eLife
- Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansionAdrian J. Waite, Dirk Bäumer, Simon Z. East, James Neal, Huw R. Morris, Olaf Ansorge, Derek J. Blake · 2014 · Neurobiology of Aging
- Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative DiseasesHong Joo Kim, J. Paul Taylor · 2017 · Neuron
- Antisense oligonucleotides: translation from mouse models to human neurodegenerative diseasesSchoch, Kathleen M., Miller, Timothy M. · 2017 · Neuron
- Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort studyMarka van Blitterswijk, Mariely DeJesus‐Hernandez, Ellis Niemantsverdriet, Melissa Erin Murray, Michael G. Heckman, Nancy N. Diehl, Patricia H. Brown, Matthew Baker, NiCole A. Finch, Peter O. Bauer et al. · 2013 · The Lancet Neurology
- Global, regional, and national burden of motor neuron diseases 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016Giancarlo Logroscino, Marco Piccininni, Benôıt Marin, Emma L. Nichols, Foad Abd-Allah, Ahmed Abdelalim, Fares Alahdab, Solomon Weldegebreal Asgedom, Ashish Awasthi, Yazan Chaiah et al. · 2018 · The Lancet Neurology
- Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic InterventionsJulia K. Nussbacher, Ricardos Tabet, Gene Wei-Ming Yeo, Clotilde Lagier‐Tourenne · 2019 · Neuron
- Poly(GP) proteins are a useful pharmacodynamic marker for
<i>C9ORF72</i>
-associated amyotrophic lateral sclerosisGendron, Tania F., Chew, Jeannie, Stankowski, Jeannette N., Hayes, Lindsey R., Zhang, Yong-Jie, Prudencio, Mercedes, Carlomagno, Yari, Daughrity, Lillian M., Jansen-West, Karen, Perkerson, Emilie A. et al. · 2017 · Science Translational Medicine
- The long non-coding RNA nuclear-enriched abundant transcript 1_2 induces paraspeckle formation in the motor neuron during the early phase of amyotrophic lateral sclerosisYoshinori Nishimoto, Shinichi Nakagawa, Tetsuro Hirose, Hirotaka James Okano, Masaki Takao, Shinsuke Shibata, Satoshi Suyama, Ken-ichiro Kuwako, Takao Imai, Shigeo Murayama et al. · 2013 · Molecular Brain
- Microglial Activation Correlates with Disease Progression and Upper Motor Neuron Clinical Symptoms in Amyotrophic Lateral SclerosisBrettschneider, Johannes, Toledo, Jon B., Van Deerlin, Vivianna M., Elman, Lauren, McCluskey, Leo, Lee, Virginia M.-Y., Trojanowski, John Q. · 2012 · PLoS ONE
- A Pan‐ E uropean Study of the C9orf72 Repeat Associated with FTLD : Geographic Prevalence, Genomic Instability, and Intermediate RepeatsJulie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben et al. · 2012 · Human Mutation
- The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansionsJavier Simón‐Sánchez, Elise G.P. Dopper, Petra E. Cohn‐Hokke, Renate K. Hukema, Nayia Nicolaou, Harro Seelaar, J. Roos A. de Graaf, Inge de Koning, Natasja M. van Schoor, Dorly J. H. Deeg et al. · 2012 · Brain
- Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insightsSteve Vucic, Ulf Ziemann, Andrew Eisen, Mark Hallett, Matthew C. Kiernan · 2012 · Journal of Neurology Neurosurgery & Psychiatry
- C 9orf72 ablation in mice does not cause motor neuron degeneration or motor deficitsMax Koppers, Anna M. Blokhuis, Henk‐Jan Westeneng, Margo L. Terpstra, Caroline A. C. Zundel, Renata Vieira de Sá, Raymond D. Schellevis, Adrian J. Waite, Derek J. Blake, Jan Herman Veldink et al. · 2015 · Annals of Neurology
- Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregationParaskevi Tziortzouda, Ludo Van Den Bosch, Frank Hirth · 2021 · Nature reviews. Neuroscience
- Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 ExpansionZhengrui Xi, Lorne H. Zinman, Danielle Moreno, Jennifer C. Schymick, Yan Liang, Christine Sato, Yonglan Zheng, Mahdi Ghani, Samar Dib, Julia Lee Keith et al. · 2013 · The American Journal of Human Genetics
- Genetics of Amyotrophic Lateral SclerosisMehdi Ghasemi, Robert H. Brown · 2017 · Cold Spring Harbor Perspectives in Medicine
- TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and UpdateSerena Lattante, Guy Armand Rouleau, Edor Kabashi · 2013 · Human Mutation
- Neurofilament light chain: a biomarker for genetic frontotemporal dementiaMeeter, Lieke H., Dopper, Elise G., Jiskoot, Lize C., Sanchez‐Valle, Raquel, Graff, Caroline, Benussi, Luisa, Ghidoni, Roberta, Pijnenburg, Yolande A., Borroni, Barbara, Galimberti, Daniela et al. · 2016 · Annals of Clinical and Translational Neurology
- Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicineDavid John Irwin, Nigel J. Cairns, Murray Grossman, Corey T. McMillan, Edward B. Lee, Vivianna M. Van Deerlin, Virginia M.‐Y. Lee, John Q. Trojanowski · 2014 · Acta Neuropathologica
- Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTDBoeynaems, Steven, Bogaert, Elke, Michiels, Emiel, Gijselinck, Ilse, Sieben, Anne, Jovičić, Ana, De Baets, Greet, Scheveneels, Wendy, Steyaert, Jolien, Cuijt, Ivy et al. · 2016 · Scientific Reports
- Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosisThomas Philips, André Bento‐Abreu, Annelies Nonneman, Wanda Haeck, Kim A. Staats, Veerle Geelen, Nicole Hersmus, Benno Küsters, Ludo Van Den Bosch, Philip Van Damme et al. · 2013 · Brain
- The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTDBrian D. Freibaum, J. Paul Taylor · 2017 · Frontiers in Molecular Neuroscience
- Programmable viscoelasticity in protein-RNA condensates with disordered sticker-spacer polypeptidesIbraheem Alshareedah, Mahdi Muhammad Moosa, Matthew Pham, Davit A. Potoyan, Priya R. Banerjee · 2021 · Nature Communications
- FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMATomohiro Yamazaki, Shi Chen, Yong Yu, Biao Yan, Tyler C. Haertlein, Mónica A. Carrasco, Juan Carlos Tapia, Bo Zhai, Rita Das, Mélanie Lalancette–Hébert et al. · 2012 · Cell Reports
- Progranulin, lysosomal regulation and neurodegenerative diseaseAimee W. Kao, Andrew S. McKay, Param Priya Singh, Anne Brunet, Eric Jinsheng Huang · 2017 · Nature reviews. Neuroscience
- Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic MiceOwen M. Peters, Gabriela Toro Cabrera, Hélène Tran, Tania F. Gendron, Jeanne E. McKeon, Jake Metterville, Alexandra Weiss, Nicholas Wightman, Johnny S. Salameh, Juhyun Kim et al. · 2015 · Neuron
- Cerebrospinal fluid neurofilament concentration reflects disease severity in frontotemporal degenerationScherling, Carole S., Hall, Tracey, Berisha, Flora, Klepac, Kristen, Karydas, Anna, Coppola, Giovanni, Kramer, Joel H., Rabinovici, Gil, Ahlijanian, Michael, Miller, Bruce L. et al. · 2014 · Annals of Neurology
- Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia‐response and RNA processing functionsRohini Raman, Scott P. Allen, Gerald Goodall, Shelley Kramer, Lize‐Linde Ponger, Paul Roy Heath, Marta Milo, Hannah C. Hollinger, Theresa Walsh, J. Robin Highley et al. · 2014 · Neuropathology and Applied Neurobiology
- Genetics of amyotrophic lateral sclerosis: A reviewStéphane Mathis, Cyril Goizet, Antoine Soulages, Jean‐Michel Vallat, Gwendal Le Masson · 2019 · Journal of the Neurological Sciences
- Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationWan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David et al. · 2012 · Nature Genetics
- Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia SyndromeChantal Sellier, Fernande Freyermuth, Ricardos Tabet, Tuan Tran, Fang He, Frank Ruffenach, Violaine Alunni, Hervé Moine, Christelle Thibault-Carpentier, Adeline Page et al. · 2013 · Cell Reports
- Inforna 2.0: A Platform for the Sequence-Based Design of Small Molecules Targeting Structured RNAsMatthew David Disney, Audrey M. Winkelsas, Sai Pradeep Velagapudi, Mark R. Southern, Mohammad Fallahi, Jessica L. Childs‐Disney · 2016 · ACS Chemical Biology
- Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9Ranjan Batra, David A. Nelles, ELAINE C. PIRIE, Steven M. Blue, Ryan J. Marina, Harrison Wang, Isaac Alexander Chaim, James D. Thomas, Nigel Zhang, Vu Nguyen et al. · 2017 · Cell
- Matter over mind: Liquid phase separation and neurodegenerationShana Elbaum‐Garfinkle · 2019 · Journal of Biological Chemistry
- Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human DiseaseZhang, Dapeng, Iyer, Lakshminarayan M., He, Fang, Aravind, L. · 2012 · Frontiers in Genetics
- An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesisMelissa S. Rotunno, Daryl A. Bosco · 2013 · Frontiers in Cellular Neuroscience
- Ageing and neurodegenerative diseasesChia-Wei Hung, Yu‐Chih Chen, Wan-Ling Hsieh, Shih‐Hwa Chiou, Chung-Lan Kao · 2010 · Ageing Research Reviews
- Calcium Signaling Regulates Autophagy and ApoptosisPramod Sukumaran, Viviane Nascimento Da Conceicao, Yuyang Sun, Naseem Ahamad, Luís R. Saraiva, Senthil Selvaraj, Brij Bhan Singh · 2021 · Cells
- Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia SyndromeChantal Sellier, Ronald A.M. Buijsen, Fang He, Sam Natla, Laura Jung, Philippe Tropel, Angéline Gaucherot, Hugues Jacobs, Hamid Méziane, Alexandre Vincent et al. · 2017 · Neuron
- Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathologyTeyssou, Elisa, Takeda, Takahiro, Lebon, Vincent, Boillée, Séverine, Doukouré, Brahima, Bataillon, Guillaume, Sazdovitch, Véronique, Cazeneuve, Cécile, Meininger, Vincent, LeGuern, Eric et al. · 2013 · Acta Neuropathologica
- The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementiaAbramzon, Yevgeniya A., Fratta, Pietro, Traynor, Bryan J., Chia, Ruth · 2020 · Frontiers in Neuroscience
- The Dual Role of Microglia in ALS: Mechanisms and Therapeutic ApproachesMaria Concetta Geloso, Valentina Corvino, Elisa Marchese, Alessia Serrano, Fabrizio Michetti, Nadia D’Ambrosi · 2017 · Frontiers in Aging Neuroscience
- The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoteron behalf of the BELNEU CONSORTIUM, Gijselinck, I, Van Mossevelde, S, van der Zee, J, Sieben, A, Engelborghs, S, De Bleecker, J, Ivanoiu, A, Deryck, O, Edbauer, D et al. · 2016 · Molecular Psychiatry
- Toxic PR n poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and exportKevin Y. Shi, Eiichiro Mori, Zehra F. Nizami, Yi Lin, Masato Kato, Siheng Xiang, Leeju C. Wu, Ming Ding, Yonghao Yu, Joseph G. Gall et al. · 2017 · Proceedings of the National Academy of Sciences
- Lysosomal dysfunction in neurodegeneration: emerging concepts and methodsVinod Udayar, Yu Chen, Ellen Sidransky, Ravi Jagasia · 2022 · Trends in Neurosciences
- Amyotrophic lateral sclerosis: translating genetic discoveries into therapiesAkçimen, Fulya, Lopez, Elia R., Landers, John E., Nath, Avindra, Chiò, Adriano, Chia, Ruth, Traynor, Bryan J. · 2023 · Nature Reviews Genetics
- Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72Zhu, Qiang, Jiang, Jie, Gendron, Tania F., McAlonis-Downes, Melissa, Jiang, Lulin, Taylor, Amy, Diaz Garcia, Sandra, Ghosh Dastidar, Somasish, Rodriguez, Maria J., King, Patrick et al. · 2020 · Nature Neuroscience
- Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriersMackenzie, Ian R. A., Frick, Petra, Grässer, Friedrich A., Gendron, Tania F., Petrucelli, Leonard, Cashman, Neil R., Edbauer, Dieter, Kremmer, Elisabeth, Prudlo, Johannes, Troost, Dirk et al. · 2015 · Acta Neuropathologica
- Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosisJessica T. Root, Paola Merino, Austin Nuckols, Michelle A. Johnson, Thomas L. Kukar · 2021 · Neurobiology of Disease
- A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagyYang, Mei, Liang, Chen, Swaminathan, Kunchithapadam, Herrlinger, Stephanie, Lai, Fan, Shiekhattar, Ramin, Chen, Jian-Fu · 2016 · Science Advances
- Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic TransportFátima Gasset-Rosa, Carlos Chillón-Marinas, Alexander Goginashvili, Ranjit Singh Atwal, Jonathan W. Artates, Ricardos Tabet, Vanessa C. Wheeler, Anne G. Bang, Don W. Cleveland, Clotilde Lagier‐Tourenne · 2017 · Neuron
- Autophagy Induction as a Therapeutic Strategy for Neurodegenerative DiseasesAlvin Djajadikerta, Swati Keshri, Mariana Pavel Tanasa, Ryan Prestil, Laura Ryan, David Chaim Rubinsztein · 2019 · Journal of Molecular Biology
- Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicityZhouteng Tao, Hongfeng Wang, Xia Qin, Ke Li, Kai Li, Xiaogang Jiang, Guoqiang Xu, Guanghui Wang, Zheng Ying · 2015 · Human Molecular Genetics
- Clinicopathologic assessment and imaging of tauopathies in neurodegenerative dementiasMelissa Erin Murray, Naomi Kouri, Wen-Lang Lin, Clifford R. Jack, Dennis W. Dickson, Prashanthi Vemuri · 2014 · Alzheimer s Research & Therapy
- C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosisJonathan Daniel Rohrer, Adrian M. Isaacs, Sarah Mizielinska, Simon Mead, Tammaryn Lashley, Selina Wray, Katie C. L. Sidle, Pietro Fratta, Richard W. Orrell, John Hardy et al. · 2015 · The Lancet Neurology
- The non-fluent/agrammatic variant of primary progressive aphasiaMurray Grossman · 2012 · The Lancet Neurology
- C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal DementiaRuxandra Dafinca, Jakub Scaber, Nidaa A. Ababneh, Tatjana Lalic, Greg A. Weir, Helen Christian, Jane Vowles, Andrew G. L. Douglas, Alexandra Fletcher-Jones, Cathy Browne et al. · 2016 · Stem Cells
- Pathophysiological and diagnostic implications of cortical dysfunction in ALSNimeshan Geevasinga, Parvathi Menon, P. Hande Özdi̇nler, Matthew C. Kiernan, Steve Vucic · 2016 · Nature Reviews Neurology
- The Role of Sex and Sex Hormones in Neurodegenerative DiseasesElisabetta Vegeto, Alessandro Maria Villa, Sara Della Torre, V. Crippa, P. Rusmini, Riccardo Cristofani, M. Galbiati, Adriana C. Maggi, Angelo Poletti · 2019 · Endocrine Reviews
- CRISPR–Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicityKramer, Nicholas J., Haney, Michael S., Morgens, David W., Jovičić, Ana, Couthouis, Julien, Li, Amy, Ousey, James, Ma, Rosanna, Bieri, Gregor, Tsui, C. Kimberly et al. · 2018 · Nature Genetics
- CircRNAs in the brainHanan, Mor, Soreq, Hermona, Kadener, Sebastian · 2017 · RNA Biology
- Pathomechanisms of TDP‐43 in neurodegenerationJu Gao, Luwen Wang, Mikayla L. Huntley, George L. Perry, Xinglong Wang · 2018 · Journal of Neurochemistry
- R Loops and Links to Human DiseasePatricia Richard, James L. Manley · 2016 · Journal of Molecular Biology
- The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founderBradley N. Smith, Stephen Newhouse, Aleksey Shatunov, Caroline A. Vance, Simon D. Topp, Lauren Johnson, Jack W. Miller, Youn‐Bok Lee, Claire Troakes, Kirsten M. Scott et al. · 2012 · European Journal of Human Genetics
- Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic eraXimena Paez-Colasante, Claudia Figueroa‐Romero, Stacey A. Sakowski, Stephen A. Goutman, Eva L. Feldman · 2015 · Nature Reviews Neurology
- Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studiesSteve Vucic, Jeffrey D. Rothstein, Matthew C. Kiernan · 2014 · Trends in Neurosciences
- DDX3X: structure, physiologic functions and cancerJie Mo, Huifang Liang, Su Chen, Pengcheng Li, Jin Chen, Bixiang Zhang · 2021 · Molecular Cancer
- RNA-binding proteins in neurodegeneration: mechanisms in aggregateErin G. Conlon, James L. Manley · 2017 · Genes & Development
- Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated VariantsFanggeng Zou, High Seng Chai, Curtis S. Younkin, Mariet Allen, Julia E. Crook, V. Shane Pankratz, Minerva M. Carrasquillo, Christopher N. Rowley, Asha Nair, Sumit Middha et al. · 2012 · PLoS Genetics
- Sirtuin deacetylases in neurodegenerative diseases of agingA. Zara Herskovits, Leonard Guarente · 2013 · Cell Research
- RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress responseKatelyn M. Green, M. Rebecca Glineburg, Michael G. Kearse, Brittany N. Flores, Alexander E. Linsalata, Stephen Fedak, Aaron C. Goldstrohm, Sami J. Barmada, Peter K. Todd · 2017 · Nature Communications
- C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivoSo Yoen Choi, Rodrigo Lopez-Gonzalez, Gopinath Krishnan, Hannah L. Phillips, Alissa L. Nana, William W. Seeley, Wei‐Dong Yao, Sandra Almeida, Fen‐Biao Gao · 2019 · Nature Neuroscience
- Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genesJanet Cady, Peggy Allred, Taha Bali, Alan Pestronk, Alison Goate, Timothy M. Miller, Robi David Mitra, John Ravits, Matthew B. Harms, Robert H. Baloh · 2014 · Annals of Neurology
- Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerationsTammaryn Lashley, Jonathan Daniel Rohrer, Simon Mead, Tamás Révész · 2015 · Neuropathology and Applied Neurobiology
- 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 ProteinsBita Zamiri, Kaalak Reddy, Robert B. Macgregor, Christopher E. Pearson · 2013 · Journal of Biological Chemistry
- Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9pGing‐Yuek Robin Hsiung, M. DeJesus-Hernandez, Howard Feldman, Pheth Sengdy, Phoenix Bouchard‐Kerr, Emily Dwosh, Rachel K. Butler, B. Leung, A. Fok, Nicola J. Rutherford et al. · 2012 · Brain
- Genetic mutations in RNA-binding proteins and their roles in ALSKatannya Kapeli, Fernando J. Martinez, Gene Wei-Ming Yeo · 2017 · Human Genetics
- G‐quadruplexes: Emerging roles in neurodegenerative diseases and the non‐coding transcriptomeRoberto Simone, Pietro Fratta, Stephen Neidle, Gary N. Parkinson, Adrian M. Isaacs · 2015 · FEBS Letters
- Early-Onset Familial Alzheimer's Disease (EOFAD)Liyong Wu, Pedro Rosa‐Neto, Ging‐Yuek Robin Hsiung, Adele Dessa Sadovnick, Mario Masellis, Sandra E. Black, Jianping Jia, Serge G. Gauthier · 2012 · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
- Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptionsShinsuke Ishigaki, Akio Masuda, Yusuke Fujioka, Yohei Iguchi, Masahisa Katsuno, Akihide Shibata, Fumihiko Urano, Gen Sobue, Kinji Ohno · 2012 · Scientific Reports
- Dysregulated molecular pathways in amyotrophic lateral sclerosis–frontotemporal dementia spectrum disorderFen‐Biao Gao, Sandra Almeida, Rodrigo Lopez‐Gonzalez · 2017 · The EMBO Journal
- G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivoRoberto Simone, Rubika Balendra, Thomas G. Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathaniel S. Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim et al. · 2017 · EMBO Molecular Medicine
- Motor Neuron Susceptibility in ALS/FTDAudrey Ragagnin, Sina Shadfar, Marta Vidal, Md Shafi Jamali, Julie D. Atkin · 2019 · Frontiers in Neuroscience
- Frontotemporal dementia due toC9ORF72mutationsSharon J. Sha, Leonel Tadao Takada, Katherine P. Rankin, Jennifer S. Yokoyama, Nicola J. Rutherford, Jamie C Fong, Baber K. Khan, Anna Karydas, Matt C. Baker, Mariely DeJesus‐Hernandez et al. · 2012 · Neurology
- Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicityYong‐Jie Zhang, Lin E. Guo, Patrick K. Gonzales, Tania F. Gendron, Yanwei Wu, Karen R. Jansen‐West, Aliesha D. O’Raw, Sarah R. Pickles, Mercedes Prudencio, Yari Carlomagno et al. · 2019 · Science
- Oxidative Stress in Amyotrophic Lateral Sclerosis: Pathophysiology and Opportunities for Pharmacological InterventionTeresa Cunha‐Oliveira, Liliana Montezinho, Catarina Mendes, Omidreza Firuzi, Luciano Saso, Paulo Jorge Oliveira, Filomena S. G. Silva · 2020 · Oxidative Medicine and Cellular Longevity
- Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X geneErick W. Loomis, John S. Eid, Paul S. Peluso, Jun Yin, Luke Hickey, David R. Rank, Sarah A. McCalmon, Randi Jenssen Hagerman, Flora Tassone, Paul J. Hagerman · 2012 · Genome Research
- Sporadic and hereditary amyotrophic lateral sclerosis (ALS)Senda Ajroud‐Driss, Teepu Siddique · 2014 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- The Role of Skeletal Muscle in Amyotrophic Lateral SclerosisJean‐Philippe Loeffler, Gina Picchiarelli, Luc Dupuis, José‐Luis González de Aguilar · 2016 · Brain Pathology