| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Arabella Bouzigues, Lucy L Russell, Georgia Peakman, Martina Bocchetta, Caroline V Greaves, Rhian S Convery, Emily Todd, James B Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, Jonathan D Rohre. Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations. Journal of neurology. 2022-03-29. PMID:35348856. |
a third of frontotemporal dementia (ftd) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (mapt), chromosome 9 open reading frame 72 (c9orf72) and progranulin (grn). |
2022-03-29 |
2023-08-13 |
Not clear |
| Sarah Ryan, Sara Rollinson, Eleanor Hobbs, Stuart Pickering-Brow. C9orf72 dipeptides disrupt the nucleocytoplasmic transport machinery and cause TDP-43 mislocalisation to the cytoplasm. Scientific reports. vol 12. issue 1. 2022-03-22. PMID:35314728. |
a repeat expansion in c9orf72 is the major cause of both frontotemporal dementia and amyotrophic lateral sclerosis, accounting for approximately 1 in 12 cases of either disease. |
2022-03-22 |
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 |
| Yu Chen, Ramon Landin-Romero, Fiona Kumfor, Muireann Irish, Carol Dobson-Stone, John B Kwok, Glenda M Halliday, John R Hodges, Olivier Pigue. Cerebellar integrity and contributions to cognition in C9orf72-mediated frontotemporal dementia. Cortex; a journal devoted to the study of the nervous system and behavior. vol 149. 2022-02-21. PMID:35189395. |
the ggggcc hexanucleotide repeat expansion in the non-coding region of the chromosome 9 open reading frame 72 gene (c9orf72) is the most common genetic cause of familial frontotemporal dementia (ftd). |
2022-02-21 |
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 |
| Priya Gami-Patel, Marta Scarioni, Femke H Bouwman, Baayla D C Boon, John C van Swieten, Annemieke J M Rozemuller, August B Smit, Yolande A L Pijnenburg, Jeroen J M Hoozemans, Anke A Dijkstr. The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons. Neuropathology and applied neurobiology. 2022-02-13. PMID:35152451. |
the loss of von economo neurons (vens) and gaba receptor subunit theta (gabrq) containing neurons is linked to early changes in social-emotional cognition and is seen in frontotemporal dementia (ftd) due to c9orf72 repeat expansion. |
2022-02-13 |
2023-08-13 |
Not clear |
| 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 |
| 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 |
| 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 |
| 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. |
while direct molecular hallmarks of the c9orf72 hre (repeat rna foci, dipeptide repeat protein pathology) are well characterized, the mechanisms by which the c9orf72 hre causes als and the related neurodegenerative disease frontotemporal dementia (ftd) remain poorly understood. |
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 |
| Nausicaa V Licata, Riccardo Cristofani, Sally Salomonsson, Katherine M Wilson, Liam Kempthorne, Deniz Vaizoglu, Vito G D'Agostino, Daniele Pollini, Rosa Loffredo, Michael Pancher, Valentina Adami, Paola Bellosta, Antonia Ratti, Gabriella Viero, Alessandro Quattrone, Adrian M Isaacs, Angelo Poletti, Alessandro Provenzan. C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation. The EMBO journal. 2021-11-18. PMID:34791698. |
intronic ggggcc (g4c2) hexanucleotide repeat expansion within the human c9orf72 gene represents the most common cause of familial forms of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) (c9als/ftd). |
2021-11-18 |
2023-08-13 |
human |
| Vijay Kuma. Molecular interactions between C9ORF72 and SMCR8: A local energetic frustration perspective. Biochemical and biophysical research communications. vol 570. 2021-11-17. PMID:34256240. |
the hexanucleotide repeat expansion in c9orf72 represents a major cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-11-17 |
2023-08-13 |
Not clear |
| Hiroaki Suzuki, Masaaki Matsuok. Proline-arginine poly-dipeptide encoded by the C9orf72 repeat expansion inhibits adenosine deaminase acting on RNA. Journal of neurochemistry. vol 158. issue 3. 2021-11-16. PMID:34081786. |
a ggggcc hexanucleotide repeat expansion in the c9orf72 gene is linked to the pathogenesis of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) (c9-als/ftd). |
2021-11-16 |
2023-08-13 |
Not clear |
| Tao Wang, Honghe Liu, Kie Itoh, Sungtaek Oh, Liang Zhao, Daisuke Murata, Hiromi Sesaki, Thomas Hartung, Chan Hyun Na, Jiou Wan. C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly. Cell metabolism. vol 33. issue 3. 2021-11-12. PMID:33545050. |
the haploinsufficiency of c9orf72 is implicated in the most common forms of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), but the full spectrum of c9orf72 functions remains to be established. |
2021-11-12 |
2023-08-13 |
Not clear |
| Yoshifumi Sonobe, Jihad Aburas, Gopinath Krishnan, Andrew C Fleming, Ghanashyam Ghadge, Priota Islam, Eleanor C Warren, Yuanzheng Gu, Mark W Kankel, André E X Brown, Evangelos Kiskinis, Tania F Gendron, Fen-Biao Gao, Raymond P Roos, Paschalis Kratsio. A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation. Nature communications. vol 12. issue 1. 2021-11-12. PMID:34654821. |
a hexanucleotide repeat expansion ggggcc in the non-coding region of c9orf72 is the most common cause of inherited amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-11-12 |
2023-08-13 |
caenorhabditis_elegans |