| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lizhu Xu, Dan Wang, Lu Zhao, Zhengsheng Yang, Xu Liu, Xinyue Li, Tingli Yuan, Ye Wang, Tianzhuang Huang, Ning Bian, Yuqun He, Xinglong Chen, Baohong Tian, Zexian Liu, Fucheng Luo, Wei Si, Guangping Gao, Weizhi Ji, Yuyu Niu, Jingkuan We. C9orf72 poly(PR) aggregation in nucleus induces ALS/FTD-related neurodegeneration in cynomolgus monkeys. Neurobiology of disease. 2023-06-16. PMID:37328037. |
it is one of the translational product of expanded g4c2 repeats in the c9orf72 gene, and its accumulation is contributing to the neuropathogenesis of c9orf72-associated amyotrophic lateral sclerosis and/or frontotemporal dementia (c9-als/ftd). |
2023-06-16 |
2023-08-14 |
monkey |
| Julia Jülg, Dieter Edbauer, Christian Behrend. C9orf72 protein quality control by UBR5-mediated heterotypic ubiquitin chains. EMBO reports. 2023-06-15. PMID:37317656. |
hexanucleotide repeat expansions within c9orf72 are a frequent cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2023-06-15 |
2023-08-14 |
Not clear |
| Kohji Mori, Shiho Gotoh, Manabu Iked. Aspects of degradation and translation of the expanded C9orf72 hexanucleotide repeat RNA. Journal of neurochemistry. 2023-06-06. PMID:37277972. |
an hexanucleotide repeat expansion mutation in the non-coding region of c9orf72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis. |
2023-06-06 |
2023-08-14 |
Not clear |
| Amirhossein Taghavi, Jared T Baisden, Jessica L Childs-Disney, Ilyas Yildirim, Matthew D Disne. Conformational dynamics of RNA G4C2 and G2C4 repeat expansions causing ALS/FTD using NMR and molecular dynamics studies. Nucleic acids research. 2023-05-22. PMID:37216594. |
g4c2 and g2c4 repeat expansions in chromosome 9 open reading frame 72 (c9orf72) are the most common cause of genetically defined amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), or c9als/ftd. |
2023-05-22 |
2023-08-14 |
Not clear |
| Rim Diab, Federica Pilotto, Smita Saxen. Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology. Frontiers in cellular neuroscience. vol 17. 2023-04-03. PMID:37006471. |
the most common genetic cause of als and frontotemporal dementia (ftd) is a hexanucleotide expansion consisting of ggggcc (g4c2) repeats in the chromosome 9 open reading frame 72 gene (c9orf72). |
2023-04-03 |
2023-08-14 |
Not clear |
| Walid Khrouf, Dario Saracino, Benoit Rucheton, Marion Houot, Fabienne Clot, Daisy Rinaldi, Joana Vitor, Marie Huynh, Evelyne Heng, Dimitri Schlemmer, Florence Pasquier, Vincent Deramecourt, Sophie Auriacombe, Carole Azuar, Richard Levy, Stéphanie Bombois, Claire Boutoleau-Brétonnière, Jérémie Pariente, Mira Didic, David Wallon, Frédérique Fluchère, Stéphane Auvin, Imen Ben Younes, Yann Nadjar, Alexis Brice, Bruno Dubois, Dominique Bonnefont-Rousselot, Isabelle Le Ber, Foudil Lamari, Sophie Auriacombe, Serge Belliard, Frédéric Blanc, Claire Boutoleau-Brétonnière, Alexis Brice, Mathieu Ceccaldi, Philippe Couratier, Mira Didic, Bruno Dubois, Frédérique Etcharry-Bouyx, Maïté Formaglio, Véronique Golfier, Didier Hannequin, Lucette Lacomblez, Julien Lagarde, Isabelle Le Ber, Richard Levy, Bernard-François Michel, Jérémie Pariente, Florence Pasquier, Daisy Rinaldi, Carole Roué-Jagot, François Sellal, Christel Thauvin-Robinet, Catherine Thomas-Antérion, Martine Vercelletto, Mira Didic, Nadine Girard, Eric Guedj, Michèle Puel, Jérémie Pariente, Isabelle Berry, Pierre Payoux, Martine Vercelletto, Claire Boutoleau-Brétonnière, Elisabeth Auffray-Calvier, Amandine Pallardy, Florence Pasquier, Vincent Deramecourt, Stéphanie Bombois, Thibaud Lebouvier, Adeline Rollin, Gregory Kuchinski, Didier Hannequin, Olivier Martinaud, David Wallon, Emmanuel Gerardin, Pierre Vera, Daisy Rinaldi, Agnès Camuzat, Alexis Brice, Marie Chupin, Eric Bardinet, Aurélie Kas, Valérie-Causse Lemercier, Merry Masmanian, Hervé Oy. Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression. Neurobiology of disease. 2023-04-01. PMID:37003407. |
we analyzed four lysospl levels in plasmas of 131 grn carriers and 142 non-carriers, including healthy controls and patients with frontotemporal dementias (ftd) carrying a c9orf72 expansion or without any mutation. |
2023-04-01 |
2023-08-14 |
Not clear |
| Oana C Marian, Jonathan D Teo, Jun Yup Lee, Huitong Song, John B Kwok, Ramon Landin-Romero, Glenda Halliday, Anthony S Do. Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations. Acta neuropathologica communications. vol 11. issue 1. 2023-03-26. PMID:36967384. |
disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by grn and c9orf72 gene mutations. |
2023-03-26 |
2023-08-14 |
mouse |
| Oana C Marian, Jonathan D Teo, Jun Yup Lee, Huitong Song, John B Kwok, Ramon Landin-Romero, Glenda Halliday, Anthony S Do. Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations. Acta neuropathologica communications. vol 11. issue 1. 2023-03-26. PMID:36967384. |
heterozygous mutations in the grn gene and hexanucleotide repeat expansions in c9orf72 are the two most common genetic causes of frontotemporal dementia (ftd) with tdp-43 protein inclusions. |
2023-03-26 |
2023-08-14 |
mouse |
| Soojin Lee, Yong-Woo Jun, Gabriel R Linares, Brandon Butler, Yeliz Yuva-Adyemir, Jill Moore, Gopinath Krishnan, Bryan Ruiz-Juarez, Manuel Santana, Marine Pons, Neal Silverman, Zhiping Weng, Justin K Ichida, Fen-Biao Ga. Downregulation of Hsp90 and the antimicrobial peptide Mtk suppresses poly(GR)-induced neurotoxicity in C9ORF72-ALS/FTD. Neuron. 2023-03-17. PMID:36931278. |
ggggcc repeat expansion in the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-03-17 |
2023-08-14 |
drosophila_melanogaster |
| Aurélie Bussy, Jake P Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M Remes, Matthias L Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B Rowe, Martina Bocchetta, Jonathan D Rohrer, Gabriel A Devenyi, M Mallar Chakravarty, Simon Ducharm. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping. 2023-03-10. PMID:36895129. |
recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (ftd) due to microtubule-associated protein tau (mapt), progranulin (grn) and chromosome 9 open reading frame 72 (c9orf72). |
2023-03-10 |
2023-08-14 |
human |
| Yang Liu, Zhiyuan Huang, Honghe Liu, Zhicheng Ji, Amit Arora, Danfeng Cai, Hongjin Wang, Mingming Liu, Eric A J Simko, Yanjun Zhang, Goran Periz, Zhe Liu, Jiou Wan. DNA-initiated epigenetic cascades driven by C9orf72 hexanucleotide repeat. Neuron. 2023-02-23. PMID:36822200. |
the c9orf72 hexanucleotide repeat expansion (hre) is the most frequent genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-02-23 |
2023-08-14 |
Not clear |
| Yi Jayne Tan, Alisa C W Yong, Jia Nee Foo, Michelle M Lian, Weng Khong Lim, Jacqueline Dominguez, Zhi Hui Fong, Kaavya Narasimhalu, Hui Jin Chiew, Kok Pin Ng, Simon K S Ting, Nagaendran Kandiah, Adeline S L N. C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort. Annals of clinical and translational neurology. 2023-02-17. PMID:36799407. |
c9orf72 expansions are the most common cause of genetic frontotemporal dementia in a southeast asian cohort. |
2023-02-17 |
2023-08-14 |
Not clear |
| Xiaoqiu Shu, Chen Wei, Wen-Yo Tu, Keke Zhong, Shuyuan Qi, Ailian Wang, Lei Bai, Shan-Xin Zhang, Benyan Luo, Zhen-Zhong Xu, Kejing Zhang, Chengyong She. Negative regulation of TREM2-mediated C9orf72 poly-GA clearance by the NLRP3 inflammasome. Cell reports. vol 42. issue 2. 2023-02-17. PMID:36800288. |
expansion of the hexanucleotide repeat ggggcc in the c9orf72 gene is the most common genetic factor in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-02-17 |
2023-08-14 |
mouse |
| Yu Li, Ji Geng, Suman Rimal, Haochuan Wang, Xiangguo Liu, Bingwei Lu, Shuangxi L. The mTORC2/AKT/VCP axis is associated with quality control of the stalled translation of poly(GR) dipeptide repeats in C9-ALS/FTD. The Journal of biological chemistry. 2023-02-10. PMID:36764521. |
expansion of g4c2 hexanucleotide repeats in the chromosome 9 open reading frame 72 (c9orf72) gene is the most common genetic cause of amyotrophic lateral sclerosis with frontotemporal dementia (c9-als/ftd). |
2023-02-10 |
2023-08-14 |
drosophila_melanogaster |
| Heleen M van 't Spijker, Sandra Almeid. How Villains are Made: The Translation of Dipeptide Repeat Proteins in C9ORF72-ALS/FTD. Gene. 2023-01-09. PMID:36621656. |
a hexanucleotide repeat expansion in the c9orf72 gene is the most common genetic alteration associated with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-01-09 |
2023-08-14 |
Not clear |
| Tomoya Taminato, Toshihide Takeuchi, Morio Ueyama, Kohji Mori, Manabu Ikeda, Hideki Mochizuki, Yoshitaka Naga. Therapeutic reduction of GGGGCC repeat RNA levels by hnRNPA3 suppresses neurodegeneration in drosophila models of C9orf72-linked ALS/FTD. Human molecular genetics. 2023-01-07. PMID:36611007. |
the abnormal expansion of ggggcc hexanucleotide repeats within the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-01-07 |
2023-08-14 |
human |
| Agnès Pérez-Millan, Sergi Borrego-Écija, John C van Swieten, Lize Jiskoot, Fermin Moreno, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Pietro Tiraboschi, Harro Seelaar, Tobias Langheinrich, Jonathan D Rohrer, Roser Sala-Llonch, Raquel Sánchez-Vall. Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study. Journal of neurology. 2022-11-28. PMID:36443488. |
the c9orf72 expansion is the most common genetic cause of frontotemporal dementia (ftd) and/or motor neuron disease (mnd). |
2022-11-28 |
2023-08-14 |
Not clear |
| Xunzhe Yang, Xiaohai Sun, Qing Liu, Liyang Liu, Jinyue Li, Zhengyi Cai, Kang Zhang, Shuangwu Liu, Di He, Dongchao Shen, Mingsheng Liu, Liying Cui, Xue Zhan. Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia. Orphanet journal of rare diseases. vol 17. issue 1. 2022-11-08. PMID:36345033. |
studies have reported that a noncoding hexanucleotide repeat in c9orf72, is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) among caucasian population, nevertheless it is rare in chinese population. |
2022-11-08 |
2023-08-14 |
Not clear |
| Li Ma, Chen Liang, Jing Wang, Qing Chang, Yuan Wang, Wei Zhang, Yuanning Du, Jotham Sadan, Jian-Fu Che. Reversing lysosome-ribosome circuit dysregulation mitigates C9FTD/ALS neurodegeneration and behaviors. Human molecular genetics. 2022-11-02. PMID:36322143. |
g4c2 repeat expansion in c9orf72 causes the most common familial frontotemporal dementia and amyotrophic lateral sclerosis (c9ftd/als). |
2022-11-02 |
2023-08-14 |
mouse |
| Chrisoula Kartanou, Zoi Kontogeorgiou, Michail Rentzos, Constantin Potagas, Stavroula Aristeidou, Elisabeth Kapaki, George P Paraskevas, Vasilios C Constantinides, Leonidas Stefanis, Sokratis G Papageorgiou, Henry Houlden, Marios Panas, Georgios Koutsis, Georgia Karadim. Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population. Journal of the neurological sciences. vol 442. 2022-10-17. PMID:36252286. |
the c9orf72 hexanucleotide repeat expansion is an established cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) and has also been associated with huntington disease (hd)-like syndromes and rarely with parkinson's disease (pd) and alzheimer's disease (ad). |
2022-10-17 |
2023-08-14 |
Not clear |