All Relations between Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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
Emmanuelle C Genin, Pauline Pozzo di Borgo, Thomas Lorivel, Sandrine Hugues, Mélissa Farinelli, Alessandra Mauri-Crouzet, Françoise Lespinasse, Lucas Godin, Véronique Paquis-Flucklinger, Agnès Petit-Paite. CHCHD10 Neurobiology of disease. 2024-04-07. PMID:38583639. chchd10 chchd10-related disease causes a spectrum of clinical presentations including mitochondrial myopathy, cardiomyopathy, amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). 2024-04-07 2024-04-10 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
David Brenner, Kirsten Sieverding, Jahnavi Srinidhi, Susanne Zellner, Christopher Secker, Rüstem Yilmaz, Julia Dyckow, Shady Amr, Anna Ponomarenko, Esra Tunaboylu, Yasmin Douahem, Joana S Schlag, Lucía Rodríguez Martínez, Georg Kislinger, Cornelia Niemann, Karsten Nalbach, Wolfgang P Ruf, Jonathan Uhl, Johanna Hollenbeck, Lucas Schirmer, Alberto Catanese, Christian S Lobsiger, Karin M Danzer, Deniz Yilmazer-Hanke, Christian Münch, Philipp Koch, Axel Freischmidt, Martina Fetting, Christian Behrends, Rosanna Parlato, Jochen H Weishaup. A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice. The Journal of experimental medicine. vol 221. issue 5. 2024-03-22. PMID:38517332. heterozygous mutations in the tbk1 gene can cause amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). 2024-03-22 2024-03-24 mouse
Sheng Chen, Anuradhika Puri, Braxton Bell, Joseph Fritsche, Hector H Palacios, Maurie Balch, Macy L Sprunger, Matthew K Howard, Jeremy J Ryan, Jessica N Haines, Gary J Patti, Albert A Davis, Meredith E Jackre. HTRA1 disaggregates α-synuclein amyloid fibrils and converts them into non-toxic and seeding incompetent species. Nature communications. vol 15. issue 1. 2024-03-19. PMID:38499535. here, we report that htra1 inhibits aggregation of α-syn as well as fus and tdp-43, which are implicated in amyotrophic lateral sclerosis (als) and frontotemporal dementia. 2024-03-19 2024-03-21 Not clear
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
Shoya Fukatsu, Maho Okawa, Miyu Okabe, Mizuka Cho, Mikinori Isogai, Takanori Yokoi, Remina Shirai, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto, Junji Yamauch. Modulating Golgi Stress Signaling Ameliorates Cell Morphological Phenotypes Induced by CHMP2B with Frontotemporal Dementia-Associated p.Asp148Tyr. Current issues in molecular biology. vol 46. issue 2. 2024-02-23. PMID:38392208. some charged multivesicular body protein 2b (chmp2b) mutations are associated with autosomal-dominant neurodegenerative frontotemporal dementia and/or amyotrophic lateral sclerosis type 7 (ftdals7). 2024-02-23 2024-02-25 rat
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
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