| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Linn Öijerstedt, Huei-Hsin Chiang, Jenny Björkström, Charlotte Forsell, Lena Lilius, Anna-Karin Lindström, Håkan Thonberg, Caroline Graf. Confirmation of high frequency of C9orf72 mutations in patients with frontotemporal dementia from Sweden. Neurobiology of aging. vol 84. 2020-08-04. PMID:30992141. |
confirmation of high frequency of c9orf72 mutations in patients with frontotemporal dementia from sweden. |
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 |
| Sarah Ryan, Eleanor Hobbs, Sara Rollinson, Stuart M Pickering-Brow. CRISPR/Cas9 does not facilitate stable expression of long C9orf72 dipeptides in mice. Neurobiology of aging. vol 84. 2020-08-04. PMID:31676125. |
a c9orf72 repeat expansion is the most common cause of both frontotemporal dementia and motor neuron disease. |
2020-08-04 |
2023-08-13 |
mouse |
| 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 |
| Vahid Payman, Fiona Lamb, Maria Stefano. Abnormal C9orf72 frontotemporal dementia behavioural variant presenting as manic psychosis. The Australian and New Zealand journal of psychiatry. vol 53. issue 8. 2020-07-27. PMID:30654615. |
abnormal c9orf72 frontotemporal dementia behavioural variant presenting as manic psychosis. |
2020-07-27 |
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 |
| Alexey Rayevsky, Maxim Platonov, Vasyl Hurmach, Anastasia Yakovenko, Dmitriy Volochnyu. Peptidyl inhibition of Spt4-Spt5: Protein-protein inhibitors for targeting the transcriptional pathway related to C9orf72 expansion repeats. Journal of cellular biochemistry. 2020-07-06. PMID:32628322. |
spt4/spt5 is an useful target as it is likely a transcription factor that has implications for long non-coding rna repeats related to frontotemporal dementia (ftd) found in the c9orf72 disease pathology. |
2020-07-06 |
2023-08-13 |
Not clear |
| 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 |
| Emma L van der Ende, Lieke H Meeter, Jackie M Poos, Jessica L Panman, Lize C Jiskoot, Elise G P Dopper, Janne M Papma, Frank Jan de Jong, Inge M W Verberk, Charlotte Teunissen, Dimitris Rizopoulos, Carolin Heller, Rhian S Convery, Katrina M Moore, Martina Bocchetta, Mollie Neason, David M Cash, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris Butler, Simon Ducharme, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni B Frisoni, Stefano Cappa, Yolande A L Pijnenburg, Jonathan D Rohrer, John C van Swiete. Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. The Lancet. Neurology. vol 18. issue 12. 2020-06-12. PMID:31701893. |
neurofilament light chain (nfl) is a promising blood biomarker in genetic frontotemporal dementia, with elevated concentrations in symptomatic carriers of mutations in grn, c9orf72, and mapt. |
2020-06-12 |
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 |
| James B Row. Parkinsonism in frontotemporal dementias. International review of neurobiology. vol 149. 2020-06-01. PMID:31779815. |
approximately 40% of people with frontotemporal dementia report a family history of dementia, motor neuron disease or parkinsonism, and half of these familial cases are attributed to mutations in three genes (c9orf72, mapt and pgrn). |
2020-06-01 |
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 |
| Wan Yun Ho, Yee Kit Tai, Jer-Cherng Chang, Jason Liang, Sheue-Houy Tyan, Song Chen, Jun-Lin Guan, Huilin Zhou, Han-Ming Shen, Edward Koo, Shuo-Chien Lin. The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy. Autophagy. vol 15. issue 5. 2020-05-07. PMID:30669939. |
mutations in c9orf72 leading to hexanucleotide expansions are the most common genetic causes for amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-05-07 |
2023-08-13 |
mouse |
| Yang Liu, Jiou Wan. C9orf72-dependent lysosomal functions regulate epigenetic control of autophagy and lipid metabolism. Autophagy. vol 15. issue 5. 2020-05-07. PMID:30767689. |
c9orf72 is linked to the most common forms of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) as well as rare cases of other neurological disorders. |
2020-05-07 |
2023-08-13 |
human |
| Thomas G Moens, Teresa Niccoli, Katherine M Wilson, Magda L Atilano, Nicol Birsa, Lauren M Gittings, Benedikt V Holbling, Miranda C Dyson, Annora Thoeng, Jacob Neeves, Idoia Glaria, Lu Yu, Julia Bussmann, Erik Storkebaum, Mercedes Pardo, Jyoti S Choudhary, Pietro Fratta, Linda Partridge, Adrian M Isaac. C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A. Acta neuropathologica. vol 137. issue 3. 2020-04-20. PMID:30604225. |
a ggggcc hexanucleotide repeat expansion within the c9orf72 gene is the most common genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia. |
2020-04-20 |
2023-08-13 |
human |
| Giorgia Querin, Peter Bede, Mohamed Mounir El Mendili, Menghan Li, Mélanie Pélégrini-Issac, Daisy Rinaldi, Martin Catala, Dario Saracino, François Salachas, Agnes Camuzat, Véronique Marchand-Pauvert, Julien Cohen-Adad, Olivier Colliot, Isabelle Le Ber, Pierre-François Prada. Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study. Annals of neurology. vol 86. issue 2. 2020-03-30. PMID:31177556. |
c9orf72 hexanucleotide repeats expansions account for almost half of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) cases. |
2020-03-30 |
2023-08-13 |
Not clear |
| C M Rodriguez, P K Tod. New pathologic mechanisms in nucleotide repeat expansion disorders. Neurobiology of disease. vol 130. 2020-03-24. PMID:31229686. |
we examine these topics with a particular eye on two repeats: the cgg repeat expansion responsible for fragile x syndrome and fragile x-associated tremor ataxia syndrome (fxtas) and the intronic ggggcc repeat expansion in c9orf72, the most common inherited cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-03-24 |
2023-08-13 |
human |
| Weiwei Cheng, Shaopeng Wang, Zhe Zhang, David W Morgens, Lindsey R Hayes, Soojin Lee, Bede Portz, Yongzhi Xie, Baotram V Nguyen, Michael S Haney, Shirui Yan, Daoyuan Dong, Alyssa N Coyne, Junhua Yang, Fengfan Xian, Don W Cleveland, Zhaozhu Qiu, Jeffrey D Rothstein, James Shorter, Fen-Biao Gao, Michael C Bassik, Shuying Su. CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation. Neuron. vol 104. issue 5. 2020-03-23. PMID:31587919. |
hexanucleotide ggggcc repeat expansion in c9orf72 is the most prevalent genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-03-23 |
2023-08-13 |
human |