Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
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 |
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 |
Ross Ferguson, Michael A van Es, Leonard H van den Berg, Vasanta Subramania. Neural stem cell homeostasis is affected in cortical organoids carrying a mutation in Angiogenin. The Journal of pathology. 2024-01-05. PMID:38180358. |
mutations in angiogenin (ang) and tardbp encoding the 43 kda transactive response dna binding protein (tdp-43) are associated with amyotrophic lateral sclerosis and frontotemporal dementia (als-ftd). |
2024-01-05 |
2024-01-07 |
Not clear |
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 |
Gabriel Talaia, Amanda Bentley-DeSousa, Shawn M Ferguso. Lysosomal TBK1 Responds to Amino Acid Availability to Relieve Rab7-Dependent mTORC1 Inhibition. bioRxiv : the preprint server for biology. 2024-01-03. PMID:38168426. |
furthermore, a tbk1 mutant (e696k) associated with amyotrophic lateral sclerosis and frontotemporal dementia constitutively accumulates at lysosomes, resulting in elevated rab7 phosphorylation and increased mtorc1 activation. |
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 |
Allison Snyder, Veronica H Ryan, James Hawrot, Sydney Lawton, Daniel M Ramos, Y Andy Qi, Kory Johnson, Xylena Reed, Nicholas L Johnson, Aaron W Kollasch, Megan Duffy, Lawren VandeVrede, J Nicholas Cochran, Bruce L Miller, Camilo Toro, Bibiana Bielekova, Jennifer S Yokoyama, Debora S Marks, Justin Y Kwan, Mark R Cookson, Michael E War. An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome. Research square. 2023-10-27. PMID:37886540. |
the known disease-associated annexin a11 (anxa11) mutations result in anxa11 aggregation, alterations in lysosomal-rna granule co-trafficking, and tdp-43 mis-localization and present as amyotrophic lateral sclerosis or frontotemporal dementia. |
2023-10-27 |
2023-11-08 |
Not clear |
Feng-Ling You, Gao-Fu Xia, Jing Ca. Behavioural Variant Frontotemporal Dementia due to Current Alzheimer research. vol 20. issue 5. 2023-10-24. PMID:37872794. |
behavioural variant frontotemporal dementia due to frontal, temporal lobe dementia (ftd) and amyotrophic lateral sclerosis (als) are fatal neurodegenerative diseases. |
2023-10-24 |
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. |
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 |
Seth A Bennett, Samantha N Cobos, Elizaveta Son, Rianna Segal, Shana Mathew, Huda Yousuf, Mariana P Torrent. Impaired RNA Binding Does Not Prevent Histone Modification Changes in a FUS ALS/FTD Yeast Model. microPublication biology. vol 2023. 2023-09-25. PMID:37746061. |
mutations in the rna-binding protein fus are linked to amyotrophic lateral sclerosis and frontotemporal dementia (als/ftd). |
2023-09-25 |
2023-10-07 |
Not clear |
Sarah Krupp, Isabel Hubbard, Oliver Tam, Gale M Hammell, Josh Dubna. TDP-43 pathology in Drosophila induces glial-cell type specific toxicity that can be ameliorated by knock-down of SF2/SRSF1. PLoS genetics. vol 19. issue 9. 2023-09-25. PMID:37747929. |
accumulation of cytoplasmic inclusions of tar-dna binding protein 43 (tdp-43) is seen in both neurons and glia in a range of neurodegenerative disorders, including amyotrophic lateral sclerosis (als), frontotemporal dementia (ftd) and alzheimer's disease (ad). |
2023-09-25 |
2023-10-07 |
drosophila_melanogaster |
Chao Gao, Jingwen Jiang, Yuyan Tan, Shengdi Che. Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets. Signal transduction and targeted therapy. vol 8. issue 1. 2023-09-22. PMID:37735487. |
here we comprehensively review the biology of microglia and the roles of microglia in neurodegenerative diseases, including alzheimer's disease, parkinson's disease, multiple system atrophy, amyotrophic lateral sclerosis, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, dementia with lewy bodies and huntington's disease. |
2023-09-22 |
2023-10-07 |
Not clear |
Camilla Ferrari, Assunta Ingannato, Sabrina Matà, Silvia Ramat, Luca Caremani, Silvia Bagnoli, Valentina Bessi, Sandro Sorbi, Benedetta Nacmia. Parkinson-ALS with a novel MAPT variant. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2023-09-21. PMID:37730935. |
the mutations on microtubule associated protein tau (mapt) gene manifest clinically with behavioural frontotemporal dementia (ftd), parkinsonism, such as progressive supranuclear palsy and corticobasal degeneration, and rarely with amyotrophic lateral sclerosis (als). |
2023-09-21 |
2023-10-07 |
Not clear |
Aditi Naskar, Asima Nayak, Muthu Raj Salaikumaran, Sonali S Vishal, Pallavi P Gopa. Phase separation and pathologic transitions of RNP condensates in neurons: implications for amyotrophic lateral sclerosis, frontotemporal dementia and other neurodegenerative disorders. Frontiers in molecular neuroscience. vol 16. 2023-09-18. PMID:37720552. |
phase separation and pathologic transitions of rnp condensates in neurons: implications for amyotrophic lateral sclerosis, frontotemporal dementia and other neurodegenerative disorders. |
2023-09-18 |
2023-10-07 |
Not clear |
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 |