| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Nemil Bhatt, Nicha Puangmalai, Urmi Sengupta, Cynthia Jerez, Madison Kidd, Shailee Gandhi, Rakez Kaye. C9orf72-associated dipeptide protein repeats form A11-positive oligomers in amyotrophic lateral sclerosis and frontotemporal dementia. The Journal of biological chemistry. vol 300. issue 2. 2024-02-10. PMID:38295729. |
hexanucleotide repeat expansion in c9orf72 is one of the most common causes of amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-02-10 |
2024-02-12 |
Not clear |
| Paulien H Smeele, Giuliana Cesare, Thomas Vaccar. ALS' Perfect Storm: Cells. vol 13. issue 2. 2024-01-22. PMID:38247869. |
alterations in these processes have been widely reported among studies investigating the toxic function of dipeptide repeats (dprs) produced by g4c2 expansion in the c9orf72 gene of patients with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-01-22 |
2024-01-24 |
Not clear |
| Faheem Shehjar, Daniyah A Almarghalani, Reetika Mahajan, Syed A-M Hasan, Zahoor A Sha. The Multifaceted Role of Cofilin in Neurodegeneration and Stroke: Insights into Pathogenesis and Targeting as a Therapy. Cells. vol 13. issue 2. 2024-01-22. PMID:38247879. |
als and frontotemporal dementia showcase cofilin's association with genetic factors like c9orf72, affecting actin dynamics and contributing to neurotoxicity. |
2024-01-22 |
2024-01-24 |
Not clear |
| Osma S Rautila, Karri Kaivola, Harri Rautila, Laura Hokkanen, Jyrki Launes, Timo E Strandberg, Hannu Laaksovirta, Johanna Palmio, Pentti J Tienar. The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK. American journal of human genetics. 2024-01-19. PMID:38242117. |
the c9orf72 hexanucleotide repeat expansion (hre) is a common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-01-19 |
2024-01-22 |
human |
| Tristan X McCallister, Colin K W Lim, William M Terpstra, M Alejandra Zeballos C, Sijia Zhang, Jackson E Powell, Thomas Ga. A high-fidelity CRISPR-Cas13 system improves abnormalities associated with C9ORF72-linked ALS/FTD. bioRxiv : the preprint server for biology. 2024-01-03. PMID:38168370. |
an abnormal expansion of a ggggcc hexanucleotide repeat in the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), two debilitating neurodegenerative disorders driven in part by gain-of-function mechanisms involving transcribed forms of the repeat expansion. |
2024-01-03 |
2024-01-06 |
Not clear |
| Zhefan Stephen Chen, Mingxi Ou, Stephanie Taylor, Ruxandra Dafinca, Shaohong Isaac Peng, Kevin Talbot, Ho Yin Edwin Cha. Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/β-catenin pathway in C9ALS/FTD. Nature communications. vol 14. issue 1. 2023-12-18. PMID:38110419. |
the ggggcc hexanucleotide repeat expansion mutation in the chromosome 9 open reading frame 72 (c9orf72) gene is a major genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd). |
2023-12-18 |
2023-12-21 |
Not clear |
| Rita Sattler, Bryan J Traynor, Janice Robertson, Ludo Van Den Bosch, Sami J Barmada, Clive N Svendsen, Matthew D Disney, Tania F Gendron, Philip C Wong, Martin R Turner, Adam Boxer, Suma Babu, Michael Benatar, Michael Kurnellas, Jonathan D Rohrer, Christopher J Donnelly, Lynette M Bustos, Kendall Van Keuren-Jensen, Penny A Dacks, Marwan N Sabbag. Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit. Neurology and therapy. 2023-10-17. PMID:37847372. |
roadmap for c9orf72 in frontotemporal dementia and amyotrophic lateral sclerosis: report on the c9orf72 ftd/als summit. |
2023-10-17 |
2023-11-08 |
Not clear |
| Rita Sattler, Bryan J Traynor, Janice Robertson, Ludo Van Den Bosch, Sami J Barmada, Clive N Svendsen, Matthew D Disney, Tania F Gendron, Philip C Wong, Martin R Turner, Adam Boxer, Suma Babu, Michael Benatar, Michael Kurnellas, Jonathan D Rohrer, Christopher J Donnelly, Lynette M Bustos, Kendall Van Keuren-Jensen, Penny A Dacks, Marwan N Sabbag. Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit. Neurology and therapy. 2023-10-17. PMID:37847372. |
a summit held march 2023 in scottsdale, arizona (usa) focused on the intronic hexanucleotide expansion in the c9orf72 gene and its relevance in frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als; c9orf72-ftd/als). |
2023-10-17 |
2023-11-08 |
Not clear |
| Leslie S Gaynor, Golnaz Yadollahikhales, Elena Tsoy, Matthew Hall, Adam L Boxer, Bruce L Miller, Lea T Grinber. C9orf72 Repeat Expansion Initially Presenting as Late-onset Bipolar Disorder With Psychosis. The neurologist. 2023-10-15. PMID:37839080. |
c9orf72 expansion is the most common genetic abnormality in behavioral variant frontotemporal dementia (bvftd) and amyotrophic lateral sclerosis. |
2023-10-15 |
2023-11-08 |
Not clear |
| Shen Zhang, Mindan Tong, Denghao Zheng, Huiying Huang, Linsen Li, Christian Ungermann, Yi Pan, Hanyan Luo, Ming Lei, Zaiming Tang, Wan Fu, She Chen, Xiaoxia Liu, Qing Zhon. C9orf72-catalyzed GTP loading of Rab39A enables HOPS-mediated membrane tethering and fusion in mammalian autophagy. Nature communications. vol 14. issue 1. 2023-10-11. PMID:37821429. |
activation of rab39a is catalyzed by c9orf72, a guanine exchange factor associated with amyotrophic lateral sclerosis and familial frontotemporal dementia. |
2023-10-11 |
2023-10-15 |
Not clear |
| Yuyu Song, Ming Ying Tsai, Bin Wang, Priscila Comassio, Jorge E Moreira, Nicola Kriefall, Gerardo Morfini, Scott Brad. Divergent Molecular Pathways for Toxicity of Selected Mutant C9ORF72-derived Dipeptide Repeats. bioRxiv : the preprint server for biology. 2023-10-09. PMID:37808871. |
expansion of a hexanucleotide repeat in a noncoding region of the c9orf72 gene is responsible for a significant fraction of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) cases, but identifying specific toxic gene products and mechanisms has been difficult. |
2023-10-09 |
2023-10-15 |
rat |
| Yixin Wang, Liu Liu, Hui Chen, Yinxue Yang, Chenchen Mu, Haigang Ren, Yanli Liu, Liqiang Yu, Qi Fang, Guanghui Wang, Zongbing Ha. Disrupted phase behavior of FUS underlies poly-PR-induced DNA damage in amyotrophic lateral sclerosis. Human molecular genetics. 2023-09-27. PMID:37756636. |
ggggcc (g4c2) hexanucleotide repeat expansion (hre) in the first intron of the chromosome 9 open reading frame 72 (c9orf72) gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-09-27 |
2023-10-07 |
mouse |
| Gabriela Toro Cabrera, Katharina E Meijboom, Abbas Abdallah, Helene Tran, Zachariah Foster, Alexandra Weiss, Nicholas Wightman, Rachel Stock, Tania Gendron, Alisha Gruntman, Anthony Giampetruzzi, Leonard Petrucelli, Robert H Brown, Christian Muelle. Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo. Gene therapy. 2023-09-26. PMID:37752346. |
the presence of an expanded hexanucleotide repeat in chromosome 9 open reading frame 72 (c9orf72) is the most frequent mutation causing familial als and frontotemporal dementia (ftd). |
2023-09-26 |
2023-10-07 |
mouse |
| Mirjana Malnar Črnigoj, Urša Čerček, Xiaoke Yin, Manh Tin Ho, Barbka Repic Lampret, Manuela Neumann, Andreas Hermann, Guy Rouleau, Beat Suter, Manuel Mayr, Boris Rogel. Phenylalanine-tRNA aminoacylation is compromised by ALS/FTD-associated C9orf72 C4G2 repeat RNA. Nature communications. vol 14. issue 1. 2023-09-16. PMID:37717009. |
the expanded hexanucleotide ggggcc repeat mutation in the c9orf72 gene is the main genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2023-09-16 |
2023-10-07 |
Not clear |
| Junhao Li, Manoj K Jaiswal, Jo-Fan Chien, Alexey Kozlenkov, Jinyoung Jung, Ping Zhou, Mahammad Gardashli, Luc J Pregent, Erica Engelberg-Cook, Dennis W Dickson, Veronique V Belzil, Eran A Mukamel, Stella Drachev. Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation. Nature communications. vol 14. issue 1. 2023-09-15. PMID:37714849. |
a repeat expansion in the c9orf72 (c9) gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-09-15 |
2023-10-07 |
Not clear |
| Malgorzata J Latallo, Shaopeng Wang, Daoyuan Dong, Blake Nelson, Nathan M Livingston, Rong Wu, Ning Zhao, Timothy J Stasevich, Michael C Bassik, Shuying Sun, Bin W. Single-molecule imaging reveals distinct elongation and frameshifting dynamics between frames of expanded RNA repeats in C9ORF72-ALS/FTD. Nature communications. vol 14. issue 1. 2023-09-11. PMID:37696852. |
c9orf72 hexanucleotide repeat expansion is the most common genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-09-11 |
2023-10-07 |
Not clear |
| Eric Hendricks, Alicia M Quihuis, Shu-Ting Hung, Jonathan Chang, Nomongo Dorjsuren, Balint Der, Kim A Staats, Yingxiao Shi, Naomi S Sta Maria, Russell E Jacobs, Justin K Ichid. The C9ORF72 repeat expansion alters neurodevelopment. Cell reports. vol 42. issue 8. 2023-08-17. PMID:37590144. |
here, we show that the most common cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als), a repeat expansion in c9orf72, restricts neural stem cell proliferation and reduces cortical and thalamic size in utero. |
2023-08-17 |
2023-09-07 |
mouse |
| Xiang-Qian Che, Guo-Zhen Lin, Xiao-Hong Liu, Gang Wang, Qian-Hua Zhao, Ru-Jing Re. Genetic and Neuroimaging Analysis of SIGMAR1 for Frontotemporal Dementia. Journal of Alzheimer's disease : JAD. 2023-08-07. PMID:37545231. |
recently, sigma nonopioid intracellular receptor 1 (sigmar1) variants have been shown harboring c9orf72 pathogenic repeat expansions in some frontotemporal dementia (ftd) cases. |
2023-08-07 |
2023-08-14 |
Not clear |
| Jinyoung Park, Yanwei Wu, Wei Shao, Tania F Gendron, Sophie J F van der Spek, Grigorii Sultanakhmetov, Avik Basu, Paula Castellanos Otero, Caroline J Jones, Karen Jansen-West, Lillian M Daughrity, Sadhna Phanse, Giulia Del Rosso, Jimei Tong, Monica Castanedes-Casey, Lulu Jiang, Jenna Libera, Björn Oskarsson, Dennis W Dickson, David W Sanders, Clifford P Brangwynne, Andrew Emili, Benjamin Wolozin, Leonard Petrucelli, Yong-Jie Zhan. Poly(GR) interacts with key stress granule factors promoting its assembly into cytoplasmic inclusions. Cell reports. vol 42. issue 8. 2023-07-20. PMID:37471224. |
c9orf72 repeat expansions are the most common genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2023-07-20 |
2023-08-14 |
Not clear |
| Yini Li, Xiaoyang Dou, Jun Liu, Yu Xiao, Zhe Zhang, Lindsey Hayes, Rong Wu, Xiujuan Fu, Yingzhi Ye, Bing Yang, Lyle W Ostrow, Chuan He, Shuying Su. Globally reduced N Nature neuroscience. 2023-06-26. PMID:37365312. |
globally reduced n repeat expansion in c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-06-26 |
2023-08-14 |
Not clear |