| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Laura M Cox, Narghes Calcagno, Christian Gauthier, Charlotte Madore, Oleg Butovsky, Howard L Weine. The microbiota restrains neurodegenerative microglia in a model of amyotrophic lateral sclerosis. Microbiome. vol 10. issue 1. 2022-03-11. PMID:35272713. |
while antibiotics improve models of alzheimer's disease, parkinson's disease, multiple sclerosis, and the c9orf72 model of amyotrophic lateral sclerosis (als), antibiotics worsen disease progression the in sod1 |
2022-03-11 |
2023-08-13 |
Not clear |
| Jared S Katzeff, Fiona Bright, Katherine Phan, Jillian J Kril, Lars M Ittner, Michael Kassiou, John R Hodges, Olivier Piguet, Matthew C Kiernan, Glenda M Halliday, Woojin Scott Ki. Biomarker discovery and development for frontotemporal dementia and amyotrophic lateral sclerosis. Brain : a journal of neurology. 2022-02-24. PMID:35202463. |
the predominant genetic abnormality in both frontotemporal dementia and amyotrophic lateral sclerosis is an expanded hexanucleotide repeat sequence in the c9orf72 gene. |
2022-02-24 |
2023-08-13 |
Not clear |
| Feilin Liu, Dmytro Morderer, Melissa C Wren, Sara A Vettleson-Trutza, Yanzhe Wang, Benjamin E Rabichow, Michelle R Salemi, Brett S Phinney, Björn Oskarsson, Dennis W Dickson, Wilfried Rossol. Proximity proteomics of C9orf72 dipeptide repeat proteins identifies molecular chaperones as modifiers of poly-GA aggregation. Acta neuropathologica communications. vol 10. issue 1. 2022-02-15. PMID:35164882. |
the most common inherited cause of two genetically and clinico-pathologically overlapping neurodegenerative diseases, amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), is the presence of expanded ggggcc intronic hexanucleotide repeats in the c9orf72 gene. |
2022-02-15 |
2023-08-13 |
human |
| Kyle J Trageser, Chad Smith, Maria Sebastian, Umar Haris Iqbal, Henry Wu, Md Al Rahim, Giulio Maria Pasinett. Causal effects of microglia-mediated innate immune responses in the pathogenesis of c9orf72 frontotemporal dementia and amyotrophic lateral sclerosis. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 17 Suppl 3. 2022-02-03. PMID:35108851. |
causal effects of microglia-mediated innate immune responses in the pathogenesis of c9orf72 frontotemporal dementia and amyotrophic lateral sclerosis. |
2022-02-03 |
2023-08-13 |
Not clear |
| Herve Rhinn, Nadine Tatton, Stella McCaughey, Michael Kurnellas, Arnon Rosentha. Progranulin as a therapeutic target in neurodegenerative diseases. Trends in pharmacological sciences. 2022-01-18. PMID:35039149. |
mutations that reduce pgrn levels increase the risk for developing alzheimer's disease, parkinson's disease, and limbic-predominant age-related transactivation response dna-binding protein 43 encephalopathy, as well as exacerbate the progression of amyotrophic lateral sclerosis (als) and ftd caused by the hexanucleotide repeat expansion in the c9orf72 gene. |
2022-01-18 |
2023-08-13 |
Not clear |
| Patricia Gomez-Suaga, Gábor M Mórotz, Andrea Markovinovic, Sandra M Martín-Guerrero, Elisavet Preza, Natalia Arias, Keith Mayl, Afra Aabdien, Vesela Gesheva, Agnes Nishimura, Ambra Annibali, Younbok Lee, Jacqueline C Mitchell, Selina Wray, Christopher Shaw, Wendy Noble, Christopher C J Mille. Disruption of ER-mitochondria tethering and signalling in C9orf72-associated amyotrophic lateral sclerosis and frontotemporal dementia. Aging cell. 2022-01-13. PMID:35026048. |
hexanucleotide repeat expansions in c9orf72 are the most common cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2022-01-13 |
2023-08-13 |
mouse |
| Maria Isabel Alvarez-Mora, Petar Podlesniy, Teresa Riazuelo, Laura Molina-Porcel, Ellen Gelpi, Laia Rodriguez-Reveng. Reduced mtDNA Copy Number in the Prefrontal Cortex of C9ORF72 Patients. Molecular neurobiology. 2022-01-03. PMID:34978044. |
hexanucleotide repeat expansion in c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd). |
2022-01-03 |
2023-08-13 |
Not clear |
| Nadine Huber, Dorit Hoffmann, Raisa Giniatullina, Hannah Rostalski, Stina Leskelä, Mari Takalo, Teemu Natunen, Eino Solje, Anne M Remes, Rashid Giniatullin, Mikko Hiltunen, Annakaisa Haapasal. C9orf72 hexanucleotide repeat expansion leads to altered neuronal and dendritic spine morphology and synaptic dysfunction. Neurobiology of disease. 2021-12-16. PMID:34915153. |
the most common genetic cause underlying ftld and amyotrophic lateral sclerosis (als) is a hexanucleotide repeat expansion in the c9orf72 gene (c9-hre). |
2021-12-16 |
2023-08-13 |
mouse |
| Mathieu Barbier, Agnès Camuzat, Khalid El Hachimi, Justine Guegan, Daisy Rinaldi, Serena Lattante, Marion Houot, Raquel Sánchez-Valle, Mario Sabatelli, Anna Antonell, Laura Molina-Porcel, Fabienne Clot, Philippe Couratier, Emma van der Ende, Julie van der Zee, Claudia Manzoni, William Camu, Cécile Cazeneuve, François Sellal, Mira Didic, Véronique Golfier, Florence Pasquier, Charles Duyckaerts, Giacomina Rossi, Amalia C Bruni, Victoria Alvarez, Estrella Gómez-Tortosa, Alexandre de Mendonça, Caroline Graff, Mario Masellis, Benedetta Nacmias, Badreddine Mohand Oumoussa, Ludmila Jornea, Sylvie Forlani, Viviana Van Deerlin, Jonathan D Rohrer, Ellen Gelpi, Rosa Rademakers, John Van Swieten, Eric Le Guern, Christine Van Broeckhoven, Raffaele Ferrari, Emmanuelle Génin, Alexis Brice, Isabelle Le Be. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. Brain : a journal of neurology. vol 144. issue 9. 2021-12-09. PMID:34687211. |
the g4c2-repeat expansion in c9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. |
2021-12-09 |
2023-08-13 |
Not clear |
| Fréderike W Riemslagh, Rob F M Verhagen, Esmay C van der Toorn, Daphne J Smits, Wim H Quint, Herma C van der Linde, Tjakko J van Ham, Rob Willemse. Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos. Disease models & mechanisms. vol 14. issue 11. 2021-12-08. PMID:34693978. |
the hexanucleotide (g4c2)-repeat expansion in the c9orf72 gene is the most common pathogenic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2021-12-08 |
2023-08-13 |
zebrafish |
| Qing Tang, Mingming Liu, Yang Liu, Ran-Der Hwang, Tao Zhang, Jiou Wan. NDST3 deacetylates α-tubulin and suppresses V-ATPase assembly and lysosomal acidification. The EMBO journal. vol 40. issue 19. 2021-12-01. PMID:34435379. |
ndst3 is downregulated in tissues and cells from patients carrying the c9orf72 hexanucleotide repeat expansion linked to the neurodegenerative diseases amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-12-01 |
2023-08-13 |
Not clear |
| Heleen M van 't Spijker, Emily E Stackpole, Sandra Almeida, Olga Katsara, Botao Liu, Kuang Shen, Robert J Schneider, Fen-Biao Gao, Joel D Richte. Ribosome Profiling Reveals Novel Regulation of C9ORF72 GGGGCC Repeat-Containing RNA Translation. RNA (New York, N.Y.). 2021-12-01. PMID:34848561. |
ggggcc (g4c2) repeat expansion in the first intron of c9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-12-01 |
2023-08-13 |
Not clear |
| Chen Chen, Yoshiaki Yamanaka, Koji Ueda, Peiying Li, Tamami Miyagi, Yuichiro Harada, Sayaka Tezuka, Satoshi Narumi, Masahiro Sugimoto, Masahiko Kuroda, Yuhei Hayamizu, Kohsuke Kanekur. Phase separation and toxicity of C9orf72 poly(PR) depends on alternate distribution of arginine. The Journal of cell biology. vol 220. issue 11. 2021-11-30. PMID:34499080. |
arg (r)-rich dipeptide repeat proteins (dprs; poly(pr): pro-arg and poly(gr): gly-arg), encoded by a hexanucleotide expansion in the c9orf72 gene, induce neurodegeneration in amyotrophic lateral sclerosis (als). |
2021-11-30 |
2023-08-13 |
Not clear |
| Gabriel Pinilla, Anupama Kumar, Mary Kay Floaters, Carlos A Pardo, Jeffrey Rothstein, Hristelina Iliev. Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 22. issue 7-8. 2021-11-25. PMID:33929933. |
c9orf72 hexanucleotide expansion is the most common genetic cause of familial amyotrophic lateral sclerosis (als)/fronto-temporal dementia (ftd) disease spectrum. |
2021-11-25 |
2023-08-13 |
Not clear |
| Suzanna Edgar, Melina Ellis, Nur Adilah Abdul-Aziz, Khean-Jin Goh, Nortina Shahrizaila, Marina L Kennerson, Azlina Ahmad-Annua. Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurobiology of aging. vol 108. 2021-11-24. PMID:34404558. |
mutation analysis of sod1, c9orf72, tardbp and fus genes in ethnically-diverse malaysian patients with amyotrophic lateral sclerosis (als). |
2021-11-24 |
2023-08-13 |
Not clear |
| E Van Schoor, M J Koper, S Ospitalieri, L Dedeene, S O Tomé, R Vandenberghe, D Brenner, M Otto, J Weishaupt, A C Ludolph, P Van Damme, L Van Den Bosch, D R Tha. Necrosome-positive granulovacuolar degeneration is associated with TDP-43 pathological lesions in the hippocampus of ALS/FTLD cases. Neuropathology and applied neurobiology. vol 47. issue 2. 2021-11-22. PMID:32949047. |
gvd was recently linked to the c9orf72 mutation in amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration with transactive response dna-binding protein (tdp-43) pathology (ftld-tdp). |
2021-11-22 |
2023-08-13 |
Not clear |
| Hannah Rostalski, Ville Korhonen, Teemu Kuulasmaa, Eino Solje, Johanna Krüger, Finn Gen, Karri Kaivola, Per Kristian Eide, Jean-Charles Lambert, Valtteri Julkunen, Pentti J Tienari, Anne M Remes, Ville Leinonen, Mikko Hiltunen, Annakaisa Haapasal. A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population. Journal of Alzheimer's disease : JAD. vol 83. issue 3. 2021-11-19. PMID:34397416. |
c9orf72 repeat expansion (c9exp) is the most common genetic cause underlying frontotemporal lobar degeneration (ftld) and amyotrophic lateral sclerosis (als). |
2021-11-19 |
2023-08-13 |
Not clear |
| Olubankole Aladesuyi Arogundade, Sandra Nguyen, Ringo Leung, Danielle Wainio, Maria Rodriguez, John Ravit. Nucleolar stress in C9orf72 and sporadic ALS spinal motor neurons precedes TDP-43 mislocalization. Acta neuropathologica communications. vol 9. issue 1. 2021-11-18. PMID:33588953. |
nucleolar stress has been implicated in the pathology and disease pathogenesis of amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration (ftld) from repeat expansions of ggggcc in c9orf72 (c9-als/ftld) but not in sporadic als (sals). |
2021-11-18 |
2023-08-13 |
Not clear |
| Alyssa N Coyne, Jeffrey D Rothstei. Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD. Acta neuropathologica communications. vol 9. issue 1. 2021-11-18. PMID:33741069. |
the most common genetic cause of familial and sporadic amyotrophic lateral sclerosis (als) is a ggggcc hexanucleotide repeat expansion (hre) in the c9orf72 gene. |
2021-11-18 |
2023-08-13 |
human |
| Sinem Usluer, Emil Spreitzer, Benjamin Bourgeois, Tobias Mad. p53 Transactivation Domain Mediates Binding and Phase Separation with Poly-PR/GR. International journal of molecular sciences. vol 22. issue 21. 2021-11-18. PMID:34768862. |
the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is the presence of poly-pr/gr dipeptide repeats, which are encoded by the chromosome 9 open reading frame 72 (c9orf72) gene. |
2021-11-18 |
2023-08-13 |
Not clear |