| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Mingmei Wang, Hongfeng Wang, Zhouteng Tao, Qin Xia, Zongbing Hao, Jochen H M Prehn, Xuechu Zhen, Guanghui Wang, Zheng Yin. C9orf72 associates with inactive Rag GTPases and regulates mTORC1-mediated autophagosomal and lysosomal biogenesis. Aging cell. vol 19. issue 4. 2021-05-20. PMID:32100453. |
ggggcc repeat expansion in c9orf72 is the most common genetic cause in both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als), two neurodegenerative disorders in association with aging. |
2021-05-20 |
2023-08-13 |
Not clear |
| Hamidreza Jafarinia, Erik van der Giessen, Patrick R Onc. Phase Separation of Toxic Dipeptide Repeat Proteins Related to C9orf72 ALS/FTD. Biophysical journal. vol 119. issue 4. 2021-05-14. PMID:32730793. |
the expansion mutation in the c9orf72 gene is the most common known genetic cause for amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-05-14 |
2023-08-13 |
Not clear |
| Size Zheng, Ali Sahimi, Katherine S Shing, Muhammad Sahim. Molecular Dynamics Study of Structure, Folding, and Aggregation of Poly-PR and Poly-GR Proteins. Biophysical journal. vol 120. issue 1. 2021-05-14. PMID:33253636. |
poly-proline-arginine (poly-pr) and poly-glycine-arginine (poly-gr) proteins are believed to be the most toxic dipeptide repeat (dpr) proteins that are expressed by the hexanucleotide repeat expansion mutation in c9orf72, which are associated with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) diseases. |
2021-05-14 |
2023-08-13 |
Not clear |
| Henk-Jan Westeneng, Kevin van Veenhuijzen, Rick A van der Spek, Susan Peters, Anne E Visser, Wouter van Rheenen, Jan H Veldink, Leonard H van den Ber. Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study. The Lancet. Neurology. vol 20. issue 5. 2021-05-11. PMID:33894192. |
associations between lifestyle and amyotrophic lateral sclerosis stratified by c9orf72 genotype: a longitudinal, population-based, case-control study. |
2021-05-11 |
2023-08-13 |
Not clear |
| Annarita Miccio, Panagiotis Antoniou, Sorana Ciura, Edor Kabash. Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges. Molecular therapy : the journal of the American Society of Gene Therapy. 2021-04-29. PMID:33823304. |
amyotrophic lateral sclerosis (als) is caused by a number of mutations, with c9orf72 repeat expansions the most common genetic cause and sod1 gain-of-function mutations the first genetic cause identified for this disease. |
2021-04-29 |
2023-08-13 |
Not clear |
| Noori Chai, Michael S Haney, Julien Couthouis, David W Morgens, Alyssa Benjamin, Kathryn Wu, James Ousey, Shirleen Fang, Sarah Finer, Michael C Bassik, Aaron D Gitle. Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72. Brain research. vol 1728. 2021-04-23. PMID:31843624. |
mutations in the c9orf72 gene are the most common cause of amyotrophic lateral sclerosis (als). |
2021-04-23 |
2023-08-13 |
mouse |
| Laurent Brasseur, Audrey Coens, Jehan Waeytens, Ronald Melki, Luc Bousse. Dipeptide repeat derived from C9orf72 hexanucleotide expansions forms amyloids or natively unfolded structures in vitro. Biochemical and biophysical research communications. vol 526. issue 2. 2021-04-20. PMID:32223927. |
the abnormal repetition of the hexanucleotide ggggcc within the c9orf72 gene is the most common genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-04-20 |
2023-08-13 |
Not clear |
| Ruxandra Dafinca, Paola Barbagallo, Lucy Farrimond, Ana Candalija, Jakub Scaber, Nida'a A Ababneh, Chaitra Sathyaprakash, Jane Vowles, Sally A Cowley, Kevin Talbo. Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD. Stem cell reports. vol 14. issue 5. 2021-04-16. PMID:32330447. |
tdp-43 dysfunction is common to 97% of amyotrophic lateral sclerosis (als) cases, including those with mutations in c9orf72. |
2021-04-16 |
2023-08-13 |
Not clear |
| Yuya Kawabe, Kohji Mori, Tomoko Yamashita, Shiho Gotoh, Manabu Iked. The RNA exosome complex degrades expanded hexanucleotide repeat RNA in C9orf72 FTLD/ALS. The EMBO journal. vol 39. issue 19. 2021-04-06. PMID:32830871. |
nucleotide repeat expansions in the c9orf72 gene cause frontotemporal lobar degeneration (ftld) and amyotrophic lateral sclerosis (als). |
2021-04-06 |
2023-08-13 |
Not clear |
| Jazmyne L Jackson, NiCole A Finch, Matthew C Baker, Jennifer M Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G Heckman, E Aubrey Thompson, Dennis W Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswij. Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers. Molecular neurodegeneration. vol 15. issue 1. 2021-03-19. PMID:32000838. |
a repeat expansion in the c9orf72-smcr8 complex subunit (c9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-03-19 |
2023-08-13 |
Not clear |
| Nadja S Andrade, Melina Ramic, Rustam Esanov, Wenjun Liu, Mathew J Rybin, Gabriel Gaidosh, Abbas Abdallah, Samuel Del'Olio, Tyler C Huff, Nancy T Chee, Sadhana Anatha, Tania F Gendron, Claes Wahlestedt, Yanbin Zhang, Michael Benatar, Christian Mueller, Zane Zeie. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD. Molecular neurodegeneration. vol 15. issue 1. 2021-03-19. PMID:32093728. |
the c9orf72 hexanucleotide repeat expansion is the most common known genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), two fatal age-related neurodegenerative diseases. |
2021-03-19 |
2023-08-13 |
Not clear |
| Dario Saracino, Isabelle Le Be. Clinical Update on C9orf72: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Beyond. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433869. |
clinical update on c9orf72: frontotemporal dementia, amyotrophic lateral sclerosis, and beyond. |
2021-02-15 |
2023-08-13 |
Not clear |
| Stella A Glasmacher, Charis Wong, Iona E Pearson, Suvankar Pa. Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis. JAMA neurology. vol 77. issue 3. 2021-02-12. PMID:31738367. |
the c9orf72 repeat expansion (c9 or c9orf72re) confers a survival disadvantage in amyotrophic lateral sclerosis (als); its effect on prognosis in frontotemporal dementia (ftd) remains uncertain. |
2021-02-12 |
2023-08-13 |
Not clear |
| Micaela Fredi, Ilaria Cavazzana, Giorgio Biasiotto, Massimiliano Filosto, Alessandro Padovani, Eugenio Monti, Angela Tincani, Franco Franceschini, Isabella Zanell. C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis. Neuromolecular medicine. vol 21. issue 2. 2021-02-01. PMID:30859373. |
c9orf72 intermediate alleles in patients with amyotrophic lateral sclerosis, systemic lupus erythematosus, and rheumatoid arthritis. |
2021-02-01 |
2023-08-13 |
Not clear |
| Micaela Fredi, Ilaria Cavazzana, Giorgio Biasiotto, Massimiliano Filosto, Alessandro Padovani, Eugenio Monti, Angela Tincani, Franco Franceschini, Isabella Zanell. C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis. Neuromolecular medicine. vol 21. issue 2. 2021-02-01. PMID:30859373. |
the commonest genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is a large hexanucleotide expansion within the non-coding region of the c9orf72 gene. |
2021-02-01 |
2023-08-13 |
Not clear |
| Daniel A Mordes, Brett M Morrison, Xanthe H Ament, Christopher Cantrell, Joanie Mok, Pierce Eggan, Carolyn Xue, Jin-Yuan Wang, Kevin Eggan, Jeffrey D Rothstei. Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice. Neuron. vol 108. issue 4. 2021-01-22. PMID:33022228. |
a hexanucleotide repeat expansion at c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd). |
2021-01-22 |
2023-08-13 |
mouse |
| Yoshihiro Nihei, Kohji Mori, Georg Werner, Thomas Arzberger, Qihui Zhou, Barham Khosravi, Julia Japtok, Andreas Hermann, Andreas Sommacal, Markus Weber, Frits Kamp, Brigitte Nuscher, Dieter Edbauer, Christian Haas. Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3. Acta neuropathologica. vol 139. issue 1. 2021-01-19. PMID:31642962. |
repeat expansion in c9orf72 causes amyotrophic lateral sclerosis and frontotemporal lobar degeneration. |
2021-01-19 |
2023-08-13 |
Not clear |
| Shalini Iyer, Vasanta Subramanian, K Ravi Achary. C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor. PeerJ. vol 6. 2021-01-09. PMID:30356970. |
c9orf72, a protein associated with amyotrophic lateral sclerosis (als) is a guanine nucleotide exchange factor. |
2021-01-09 |
2023-08-13 |
Not clear |
| Delia Gagliardi, Gianluca Costamagna, Michela Taiana, Luca Andreoli, Fabio Biella, Margherita Bersani, Nereo Bresolin, Giacomo Pietro Comi, Stefania Cort. Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia. Ageing research reviews. vol 64. 2020-12-30. PMID:32971256. |
in 2011, a hexanucleotide repeat expansion (hre) in the noncoding region of c9orf72 was associated with the most frequent genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2020-12-30 |
2023-08-13 |
Not clear |
| Hagai Marmor-Kollet, Aviad Siany, Nancy Kedersha, Naama Knafo, Natalia Rivkin, Yehuda M Danino, Thomas G Moens, Tsviya Olender, Daoud Sheban, Nir Cohen, Tali Dadosh, Yoseph Addadi, Revital Ravid, Chen Eitan, Beata Toth Cohen, Sarah Hofmann, Claire L Riggs, Vivek M Advani, Adrian Higginbottom, Johnathan Cooper-Knock, Jacob H Hanna, Yifat Merbl, Ludo Van Den Bosch, Paul Anderson, Pavel Ivanov, Tamar Geiger, Eran Hornstei. Spatiotemporal Proteomic Analysis of Stress Granule Disassembly Using APEX Reveals Regulation by SUMOylation and Links to ALS Pathogenesis. Molecular cell. vol 80. issue 5. 2020-12-16. PMID:33217318. |
parallel proteomics with amyotrophic lateral sclerosis (als)-associated c9orf72 dipeptides uncovered attenuated dep recruitment during sg disassembly and impaired sumoylation. |
2020-12-16 |
2023-08-13 |
drosophila_melanogaster |