| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Qihui Zhou, Nikola Mareljic, Meike Michaelsen, Samira Parhizkar, Steffanie Heindl, Brigitte Nuscher, Daniel Farny, Mareike Czuppa, Carina Schludi, Alexander Graf, Stefan Krebs, Helmut Blum, Regina Feederle, Stefan Roth, Christian Haass, Thomas Arzberger, Arthur Liesz, Dieter Edbaue. Active poly-GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model. EMBO molecular medicine. vol 12. issue 2. 2021-07-27. PMID:31858749. |
the c9orf72 repeat expansion is the most common genetic cause of amyotrophic lateral sclerosis (als) and/or frontotemporal dementia (ftd). |
2021-07-27 |
2023-08-13 |
mouse |
| Wei Dong, Yuanwu Ma, Feifei Guan, Xu Zhang, Wei Chen, Li Zhang, Lianfeng Zhan. Ablation of C9orf72 together with excitotoxicity induces ALS in rats. The FEBS journal. vol 288. issue 5. 2021-07-20. PMID:32745320. |
pathogenesis of familial amyotrophic lateral sclerosis (als) linked to expansion of the chromosome 9 open reading frame 72 (c9orf72) hexanucleotide repeat that impairs c9orf72 expression. |
2021-07-20 |
2023-08-13 |
mouse |
| Kejing Zhang, Ailian Wang, Keke Zhong, Shuyuan Qi, Chen Wei, Xiaoqiu Shu, Wen-Yo Tu, Wentao Xu, Congcong Xia, Yatao Xiao, Aizhong Chen, Lei Bai, Jianmin Zhang, Benyan Luo, Wenyuan Wang, Chengyong She. UBQLN2-HSP70 axis reduces poly-Gly-Ala aggregates and alleviates behavioral defects in the C9ORF72 animal model. Neuron. vol 109. issue 12. 2021-07-20. PMID:33991504. |
expansion of a hexanucleotide repeat ggggcc (g4c2) in the intron of the c9orf72 gene is the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) (c9-als/ftd). |
2021-07-20 |
2023-08-13 |
Not clear |
| Zongbing Hao, Rui Wang, Haigang Ren, Guanghui Wan. Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Neuroscience bulletin. vol 36. issue 9. 2021-07-19. PMID:32860626. |
role of the c9orf72 gene in the pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-07-19 |
2023-08-13 |
mouse |
| Zongbing Hao, Rui Wang, Haigang Ren, Guanghui Wan. Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Neuroscience bulletin. vol 36. issue 9. 2021-07-19. PMID:32860626. |
since the discovery of the c9orf72 gene in 2011, great advances have been achieved in its genetics and in identifying its role in disease models and pathological mechanisms; it is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-07-19 |
2023-08-13 |
mouse |
| Ming-Yuan Su, Simon A Fromm, Jonathan Remis, Daniel B Toso, James H Hurle. Structural basis for the ARF GAP activity and specificity of the C9orf72 complex. Nature communications. vol 12. issue 1. 2021-07-06. PMID:34145292. |
mutation of c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontal temporal degeneration (ftd), which is attributed to both a gain and loss of function. |
2021-07-06 |
2023-08-13 |
Not clear |
| Youn-Bok Lee, Pranetha Baskaran, Jorge Gomez-Deza, Han-Jou Chen, Agnes L Nishimura, Bradley N Smith, Claire Troakes, Yoshitsugu Adachi, Alan Stepto, Leonard Petrucelli, Jean-Marc Gallo, Frank Hirth, Boris Rogelj, Sarah Guthrie, Christopher E Sha. C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity. Human molecular genetics. vol 30. issue 3-4. 2021-07-04. PMID:32888026. |
c9orf72 poly ga ran-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity. |
2021-07-04 |
2023-08-13 |
Not clear |
| Xiaoqiang Tang, Arturo Toro, Sahana T G, Junli Gao, Jessica Chalk, Björn Oskarsson, Ke Zhan. Divergence, Convergence, and Therapeutic Implications: A Cell Biology Perspective of C9ORF72-ALS/FTD. Molecular neurodegeneration. vol 15. issue 1. 2021-07-01. PMID:32513219. |
ever since a ggggcc hexanucleotide repeat expansion mutation in c9orf72 was identified as the most common cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), three competing but nonexclusive hypotheses to explain how this mutation causes diseases have been proposed and are still under debate. |
2021-07-01 |
2023-08-13 |
Not clear |
| Yanyan Geng, Changdong Liu, Qixu Cai, Zhipu Luo, Haitao Miao, Xiao Shi, Naining Xu, Chun Po Fung, To To Choy, Bing Yan, Ning Li, Peiyuan Qian, Bo Zhou, Guang Zh. Crystal structure of parallel G-quadruplex formed by the two-repeat ALS- and FTD-related GGGGCC sequence. Nucleic acids research. vol 49. issue 10. 2021-06-25. PMID:34048588. |
the hexanucleotide repeat expansion, ggggcc (g4c2), within the first intron of the c9orf72 gene is known to be the most common genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-06-25 |
2023-08-13 |
Not clear |
| Alicia K Friedman, Steven Boeynaems, Lane A Bake. Synthetic hydrogel mimics of the nuclear pore complex for the study of nucleocytoplasmic transport defects in C9orf72 ALS/FTD. Analytical and bioanalytical chemistry. 2021-06-25. PMID:34170347. |
dipeptide repeats (dprs) associated with c9orf72 repeat expansions perturb nucleocytoplasmic transport and are implicated in the pathogenesis of amyotrophic lateral sclerosis. |
2021-06-25 |
2023-08-13 |
Not clear |
| Han-Yi Lin, Li-Kai Tsai, Yu-Che Cheng, Huai-En Lu, Ching-Ying Huang, Patrick C H Hsieh, Chin-Hsien Li. Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-048-05) from a patient with ALS and parkinsonism having a hexanucleotide repeat expansion mutation in C9orf72 gene. Stem cell research. vol 44. 2021-06-21. PMID:32151952. |
a hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (c9orf72) gene causes a heterogeneous neurodegenerative disorder that includes amyotrophic lateral sclerosis (als), frontotemporal degeneration (ftd), and parkinsonism. |
2021-06-21 |
2023-08-13 |
human |
| Weilun Pang, Fenghua H. Cellular and physiological functions of C9ORF72 and implications for ALS/FTD. Journal of neurochemistry. vol 157. issue 3. 2021-06-21. PMID:33259633. |
the hexanucleotide repeat expansion (hre) in the c9orf72 gene is the main cause of two tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-06-21 |
2023-08-13 |
mouse |
| Chen Zhao, Anna-Claire Devlin, Amit K Chouhan, Bhuvaneish T Selvaraj, Maria Stavrou, Karen Burr, Veronica Brivio, Xin He, Arpan R Mehta, David Story, Christopher E Shaw, Owen Dando, Giles E Hardingham, Gareth B Miles, Siddharthan Chandra. Mutant C9orf72 human iPSC-derived astrocytes cause non-cell autonomous motor neuron pathophysiology. Glia. vol 68. issue 5. 2021-06-10. PMID:31841614. |
mutations in c9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (als). |
2021-06-10 |
2023-08-13 |
human |
| John L Goodier, Alisha O Soares, Gavin C Pereira, Lauren R DeVine, Laura Sanchez, Robert N Cole, Jose Luis García-Pére. C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease. Acta neuropathologica communications. vol 8. issue 1. 2021-05-31. PMID:32678027. |
a pathogenic gggccc hexanucleotide expansion in the first intron/promoter region of the c9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (als). |
2021-05-31 |
2023-08-13 |
mouse |
| Fang He, Brittany N Flores, Amy Krans, Michelle Frazer, Sam Natla, Sarjina Niraula, Olamide Adefioye, Sami J Barmada, Peter K Tod. The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD. Acta neuropathologica communications. vol 8. issue 1. 2021-05-31. PMID:32753055. |
an intronic hexanucleotide repeat expansion in c9orf72 causes familial and sporadic amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-05-31 |
2023-08-13 |
drosophila_melanogaster |
| Elke Braems, Bart Swinnen, Ludo Van Den Bosc. C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD? Acta neuropathologica. vol 140. issue 5. 2021-05-31. PMID:32876811. |
a repeat expansion in c9orf72 is responsible for the characteristic neurodegeneration in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in a still unresolved manner. |
2021-05-31 |
2023-08-13 |
Not clear |
| Wan Yun Ho, Sheeja Navakkode, Fujia Liu, Tuck Wah Soong, Shuo-Chien Lin. Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis. Acta neuropathologica communications. vol 8. issue 1. 2021-05-31. PMID:32887666. |
hexanucleotide repeat expansion of c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-05-31 |
2023-08-13 |
mouse |
| Bin Jiao, Mengli Wang, Hao Feng, Han Bao, Feiran Zhang, Hao Wu, Junling Wang, Beisha Tang, Peng Jin, Lu She. Downregulation of TOP2 modulates neurodegeneration caused by GGGGCC expanded repeats. Human molecular genetics. vol 30. issue 10. 2021-05-31. PMID:33749734. |
ggggcc repeats in a non-coding region of the c9orf72 gene have been identified as a major genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2021-05-31 |
2023-08-13 |
mouse |
| Mingmei Wang, Hongfeng Wang, Zhouteng Tao, Qin Xia, Zongbing Hao, Jochen H M Prehn, Xuechu Zhen, Guanghui Wang, Zheng Yin. C9orf72 associates with inactive Rag GTPases and regulates mTORC1-mediated autophagosomal and lysosomal biogenesis. Aging cell. vol 19. issue 4. 2021-05-20. PMID:32100453. |
ggggcc repeat expansion in c9orf72 is the most common genetic cause in both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als), two neurodegenerative disorders in association with aging. |
2021-05-20 |
2023-08-13 |
Not clear |
| Hamidreza Jafarinia, Erik van der Giessen, Patrick R Onc. Phase Separation of Toxic Dipeptide Repeat Proteins Related to C9orf72 ALS/FTD. Biophysical journal. vol 119. issue 4. 2021-05-14. PMID:32730793. |
the expansion mutation in the c9orf72 gene is the most common known genetic cause for amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-05-14 |
2023-08-13 |
Not clear |