| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ming-Yuan Su, Simon A Fromm, Roberto Zoncu, James H Hurle. Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD. Nature. vol 585. issue 7824. 2020-09-21. PMID:32848248. |
mutation of c9orf72 is the most prevalent defect associated with amyotrophic lateral sclerosis and frontotemporal degeneration |
2020-09-21 |
2023-08-13 |
Not clear |
| Christopher P Cali, Maribel Patino, Yee Kit Tai, Wan Yun Ho, Catriona A McLean, Christopher M Morris, William W Seeley, Bruce L Miller, Carles Gaig, Jean Paul G Vonsattel, Charles L White, Sigrun Roeber, Hans Kretzschmar, Juan C Troncoso, Claire Troakes, Marla Gearing, Bernardino Ghetti, Vivianna M Van Deerlin, Virginia M-Y Lee, John Q Trojanowski, Kin Y Mok, Helen Ling, Dennis W Dickson, Gerard D Schellenberg, Shuo-Chien Ling, Edward B Le. C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy. Acta neuropathologica. vol 138. issue 5. 2020-09-15. PMID:31327044. |
large expansions in c9orf72 (100s-1000s of units) are the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal degeneration (ftd). |
2020-09-15 |
2023-08-13 |
human |
| Melissa Nel, Gloudi M Agenbag, Franclo Henning, Helen M Cross, Alina Esterhuizen, Jeannine M Heckman. C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis. Journal of the neurological sciences. vol 401. 2020-08-24. PMID:31009932. |
c9orf72 repeat expansions in south africans with amyotrophic lateral sclerosis. |
2020-08-24 |
2023-08-13 |
human |
| Melissa Nel, Gloudi M Agenbag, Franclo Henning, Helen M Cross, Alina Esterhuizen, Jeannine M Heckman. C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis. Journal of the neurological sciences. vol 401. 2020-08-24. PMID:31009932. |
the hexanucleotide repeat expansion in the c9orf72 gene is the most common genetic variant found in individuals with sporadic amyotrophic lateral sclerosis (als), occurring at a frequency of between 7 and 11% in cohorts of european ancestry. |
2020-08-24 |
2023-08-13 |
human |
| Jie Jiang, John Ravit. Pathogenic Mechanisms and Therapy Development for C9orf72 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 4. 2020-08-24. PMID:31667754. |
in 2011, a hexanucleotide repeat expansion in the first intron of the c9orf72 gene was identified as the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-08-24 |
2023-08-13 |
human |
| Hiroaki Suzuki, Yoshio Shibagaki, Seisuke Hattori, Masaaki Matsuok. C9-ALS/FTD-linked proline-arginine dipeptide repeat protein associates with paraspeckle components and increases paraspeckle formation. Cell death & disease. vol 10. issue 10. 2020-08-20. PMID:31582731. |
a ggggcc hexanucleotide repeat expansion in the c9orf72 gene has been identified as the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2020-08-20 |
2023-08-13 |
Not clear |
| Qiang Zhu, Jie Jiang, Tania F Gendron, Melissa McAlonis-Downes, Lulin Jiang, Amy Taylor, Sandra Diaz Garcia, Somasish Ghosh Dastidar, Maria J Rodriguez, Patrick King, Yongjie Zhang, Albert R La Spada, Huaxi Xu, Leonard Petrucelli, John Ravits, Sandrine Da Cruz, Clotilde Lagier-Tourenne, Don W Clevelan. Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72. Nature neuroscience. vol 23. issue 5. 2020-08-14. PMID:32284607. |
hexanucleotide expansions in c9orf72, which encodes a predicted guanine exchange factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-08-14 |
2023-08-13 |
mouse |
| Chrysoula Marogianni, Dimitrios Rikos, Antonios Provatas, Katerina Dadouli, Panagiotis Ntellas, Panagiota Tsitsi, George Patrinos, Efthimios Dardiotis, George Hadjigeorgiou, Georgia Xiromerisio. The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database. Neurobiology of aging. vol 84. 2020-08-04. PMID:31126629. |
a pathologic expansion of a noncoding ggggcc hexanucleotide repeat of the c9orf72 gene has been strongly associated with familial amyotrophic lateral sclerosis (als) and frontotemporal degeneration (ftd) cases predominantly in caucasian populations. |
2020-08-04 |
2023-08-13 |
Not clear |
| Isabel C Hostettler, Manuel Bernal-Quiros, Andrew Wong, Nikhil Sharma, Duncan Wilson, David J Seiffge, Clare Shakeshaft, Hans R Jäger, Hannah Cohen, Tarek Yousry, Rustam Al-Shahi Salman, Gregory Y H Lip, Martin M Brown, Keith W Muir, David J Werring, Henry Houlde. C9orf72 and intracerebral hemorrhage. Neurobiology of aging. vol 84. 2020-08-04. PMID:31582231. |
the chromosome 9 open reading frame 72 (c9orf72) ggggcc repeat expansion has been associated with several diseases, including amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2020-08-04 |
2023-08-13 |
Not clear |
| Yon Ju Ji, Janet Ugolino, Tao Zhang, Jiayin Lu, Dohoon Kim, Jiou Wan. C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases. PLoS genetics. vol 16. issue 4. 2020-08-03. PMID:32282804. |
a mutation in the c9orf72 gene has been linked to the most common forms of neurodegenerative diseases that include amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-08-03 |
2023-08-13 |
human |
| Juan A Ortega, Elizabeth L Daley, Sukhleen Kour, Marisa Samani, Liana Tellez, Haley S Smith, Elizabeth A Hall, Y Taylan Esengul, Yung-Hsu Tsai, Tania F Gendron, Christopher J Donnelly, Teepu Siddique, Jeffrey N Savas, Udai B Pandey, Evangelos Kiskini. Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity. Neuron. vol 106. issue 1. 2020-07-28. PMID:32059759. |
the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is a hexanucleotide repeat expansion in c9orf72 (c9-hre). |
2020-07-28 |
2023-08-13 |
Not clear |
| Shangxi Xiao, Paul M McKeever, Agnes Lau, Janice Robertso. Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels. Acta neuropathologica communications. vol 7. issue 1. 2020-07-13. PMID:31651360. |
a hexanucleotide repeat expansion in a noncoding region of c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-07-13 |
2023-08-13 |
mouse |
| Aaron Burberry, Michael F Wells, Francesco Limone, Alexander Couto, Kevin S Smith, James Keaney, Gaëlle Gillet, Nick van Gastel, Jin-Yuan Wang, Olli Pietilainen, Menglu Qian, Pierce Eggan, Christopher Cantrell, Joanie Mok, Irena Kadiu, David T Scadden, Kevin Egga. C9orf72 suppresses systemic and neural inflammation induced by gut bacteria. Nature. vol 582. issue 7810. 2020-06-24. PMID:32483373. |
a hexanucleotide-repeat expansion in c9orf72 is the most common genetic variant that contributes to amyotrophic lateral sclerosis and frontotemporal dementia |
2020-06-24 |
2023-08-13 |
Not clear |
| Antoine Pegat, Françoise Bouhour, Kevin Mouzat, Christophe Vial, Benoit Pegat, Pascal Leblanc, Emmanuel Broussolle, Stéphanie Millecamps, Serge Lumbroso, Emilien Bernar. Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study. European neurology. vol 82. issue 4-6. 2020-06-22. PMID:32018264. |
c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als). |
2020-06-22 |
2023-08-13 |
Not clear |
| Chen Liang, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen, Jian-Fu Che. Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models. Human molecular genetics. vol 28. issue 23. 2020-06-01. PMID:31625563. |
g4c2 repeat expansions in an intron of c9orf72 cause the most common familial amyotrophic lateral sclerosis and frontotemporal dementia (collectively, c9als/ftd). |
2020-06-01 |
2023-08-13 |
mouse |
| Sarah H Berth, Thomas E Lloy. How can an understanding of the C9orf72 gene translate into amyotrophic lateral sclerosis therapies? Expert review of neurotherapeutics. vol 19. issue 10. 2020-05-21. PMID:31233365. |
how can an understanding of the c9orf72 gene translate into amyotrophic lateral sclerosis therapies? |
2020-05-21 |
2023-08-13 |
Not clear |
| Scott P Allen, Benjamin Hall, Ryan Woof, Laura Francis, Noemi Gatto, Allan C Shaw, Monika Myszczynska, Jordan Hemingway, Ian Coldicott, Amelia Willcock, Lucy Job, Rachel M Hughes, Camilla Boschian, Nadhim Bayatti, Paul R Heath, Oliver Bandmann, Heather Mortiboys, Laura Ferraiuolo, Pamela J Sha. C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis. Brain : a journal of neurology. vol 142. issue 12. 2020-05-21. PMID:31647549. |
c9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis. |
2020-05-21 |
2023-08-13 |
Not clear |
| Scott P Allen, Benjamin Hall, Ryan Woof, Laura Francis, Noemi Gatto, Allan C Shaw, Monika Myszczynska, Jordan Hemingway, Ian Coldicott, Amelia Willcock, Lucy Job, Rachel M Hughes, Camilla Boschian, Nadhim Bayatti, Paul R Heath, Oliver Bandmann, Heather Mortiboys, Laura Ferraiuolo, Pamela J Sha. C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis. Brain : a journal of neurology. vol 142. issue 12. 2020-05-21. PMID:31647549. |
using fibroblasts and reprogrammed induced astrocytes from c9orf72 and sporadic amyotrophic lateral sclerosis cases we measured the production rate of reduced nicotinamide adenine dinucleotides (nadh) from 91 potential energy substrates simultaneously. |
2020-05-21 |
2023-08-13 |
Not clear |
| Scott P Allen, Benjamin Hall, Ryan Woof, Laura Francis, Noemi Gatto, Allan C Shaw, Monika Myszczynska, Jordan Hemingway, Ian Coldicott, Amelia Willcock, Lucy Job, Rachel M Hughes, Camilla Boschian, Nadhim Bayatti, Paul R Heath, Oliver Bandmann, Heather Mortiboys, Laura Ferraiuolo, Pamela J Sha. C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis. Brain : a journal of neurology. vol 142. issue 12. 2020-05-21. PMID:31647549. |
our screening approach identified that c9orf72 and sporadic amyotrophic lateral sclerosis induced astrocytes have distinct metabolic profiles compared to controls and displayed a loss of metabolic flexibility that was not observed in fibroblast models. |
2020-05-21 |
2023-08-13 |
Not clear |
| Christopher P Cali, Daniel S Park, Edward B Le. Targeted DNA methylation of neurodegenerative disease genes via homology directed repair. Nucleic acids research. vol 47. issue 22. 2020-05-14. PMID:31680172. |
harden is applied to generate a patient derived ipsc model of amyotrophic lateral sclerosis and frontotemporal dementia (als/ftd) that recapitulates dna methylation patterns seen in patients, demonstrating that dna methylation of the 5' regulatory region directly reduces c9orf72 expression and increases histone h3k9 tri-methylation levels. |
2020-05-14 |
2023-08-13 |
Not clear |