All Relations between Frontotemporal Dementia and c9orf72

Publication Sentence Publish Date Extraction Date Species
Nada Kojak, Junko Kuno, Kristina E Fittipaldi, Ambereen Khan, David Wenger, Michael Glasser, Roberto A Donnianni, Yajun Tang, Jade Zhang, Katie Huling, Roxanne Ally, Alejandro O Mujica, Terrence Turner, Gina Magardino, Pei Yi Huang, Sze Yen Kerk, Gustavo Droguett, Marine Prissette, Jose Rojas, Teodoro Gomez, Anthony Gagliardi, Charleen Hunt, Jeremy S Rabinowitz, Guochun Gong, William Poueymirou, Eric Chiao, Brian Zambrowicz, Chia-Jen Siao, Daisuke Kajimur. Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model. Nucleic acids research. 2024-04-10. PMID:38597682. expansion of a g4c2 repeat in the c9orf72 gene is associated with familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). 2024-04-10 2024-04-12 mouse
Xiujuan Fu, Zhe Zhang, Lindsey R Hayes, Noelle Wright, Julie Asbury, Shelley Li, Yingzhi Ye, Shuying Su. DDX3X overexpression decreases dipeptide repeat proteins in a mouse model of C9ORF72-ALS/FTD. Experimental neurology. 2024-03-31. PMID:38556190. hexanucleotide repeat expansion in c9orf72 (c9) is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). 2024-03-31 2024-04-03 mouse
Christine Marques, Aaron Held, Katherine Dorfman, Joon Sung, Catherine Song, Amey S Kavuturu, Corey Aguilar, Tommaso Russo, Derek H Oakley, Mark W Albers, Bradley T Hyman, Leonard Petrucelli, Clotilde Lagier-Tourenne, Brian J Wainge. Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia. Acta neuropathologica. vol 147. issue 1. 2024-03-13. PMID:38478117. concordant sting activation in layer v cortical motor neurons occurs in a mouse model of c9orf72 repeat-associated als and frontotemporal dementia (ftd). 2024-03-13 2024-03-16 mouse
Chong Gao, Qinghua Shi, Xue Pan, Jiajia Chen, Yuhong Zhang, Jiali Lang, Shan Wen, Xiaodong Liu, Tian-Lin Cheng, Kai Le. Neuromuscular organoids model spinal neuromuscular pathologies in C9orf72 amyotrophic lateral sclerosis. Cell reports. vol 43. issue 3. 2024-03-03. PMID:38431841. hexanucleotide repeat expansions in the c9orf72 gene are the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia. 2024-03-03 2024-03-06 Not clear
Yi-Ju Tseng, Amy Krans, Indranil Malik, Xiexiong Deng, Evrim Yildirim, Sinem Ovunc, Elizabeth M H Tank, Karen Jansen-West, Ross Kaufhold, Nicolas B Gomez, Roger Sher, Leonard Petrucelli, Sami J Barmada, Peter K Tod. Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats. Nucleic acids research. 2024-02-27. PMID:38412259. a ggggcc (g4c2) hexanucleotide repeat expansion in c9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd), while a cgg trinucleotide repeat expansion in fmr1 leads to the neurodegenerative disorder fragile x-associated tremor/ataxia syndrome (fxtas). 2024-02-27 2024-03-01 Not clear
Shoya Fukatsu, Hinami Sashi, Remina Shirai, Norio Takagi, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto, Junji Yamauch. Rab11a Controls Cell Shape via C9orf72 Protein: Possible Relationships to Frontotemporal Dementia/Amyotrophic Lateral Sclerosis (FTDALS) Type 1. Pathophysiology : the official journal of the International Society for Pathophysiology. vol 31. issue 1. 2024-02-23. PMID:38390945. abnormal nucleotide insertions of c9orf72, which forms a complex with smith-magenis syndrome chromosomal region candidate gene 8 (smcr8) protein and wd repeat-containing protein 41 (wdr41) protein, are associated with an autosomal-dominant neurodegenerative frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 (ftdals1). 2024-02-23 2024-02-25 Not clear
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