| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sterre C M de Boer, Lauren Woolley, Merel O Mol, Maria Serpente, Lianne M Reus, Rick van Minkelen, Joke F A van Vugt, Federica Sorrentino, Jan H Veldink, Harro Seelaar, Daniela Galimberti, Fred van Ruissen, Simon Mead, Ekaterina Rogaeva, Yolande A L Pijnenburg, Sven J van der Le. Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia. Acta neuropathologica communications. vol 10. issue 1. 2022-09-21. PMID:36131298. |
(2020): carriership of two copies of c9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia. |
2022-09-21 |
2023-08-14 |
Not clear |
| Olivia M Rifai, James Longden, Judi O'Shaughnessy, Michael D E Sewell, Judith Pate, Karina McDade, Michael J D Daniels, Sharon Abrahams, Siddharthan Chandran, Barry W McColl, Christopher R Sibley, Jenna M Gregor. Random forest modelling demonstrates microglial and protein misfolding features to be key phenotypic markers in C9orf72-ALS. The Journal of pathology. 2022-09-07. PMID:36070099. |
clinical heterogeneity observed across patients with amyotrophic lateral sclerosis (als) is a known complicating factor in identifying potential therapeutics, even within cohorts with the same mutation, such as c9orf72 hexanucleotide repeat expansions (hre). |
2022-09-07 |
2023-08-14 |
Not clear |
| Mei Pu, Yusi Tai, Luyang Yuan, Yu Zhang, Huijie Guo, Zongbing Hao, Jing Chen, Xinming Qi, Guanghui Wang, Zhouteng Tao, Jin Re. The contribution of proteasomal impairment to autophagy activation by C9orf72 poly-GA aggregates. Cellular and molecular life sciences : CMLS. vol 79. issue 9. 2022-08-29. PMID:36036324. |
poly-ga, a dipeptide repeat protein unconventionally translated from ggggcc (g4c2) repeat expansions in c9orf72, is abundant in c9orf72-related amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) (c9orf72-als/ftd). |
2022-08-29 |
2023-08-14 |
Not clear |
| Wenting Guo, Haibo Wang, Arun Kumar Tharkeshwar, Julien Couthouis, Elke Braems, Pegah Masrori, Evelien Van Schoor, Yannan Fan, Karan Ahuja, Matthieu Moisse, Maarten Jacquemyn, Rodrigo Furtado Madeiro da Costa, Madhavsai Gajjar, Sriram Balusu, Tine Tricot, Laura Fumagalli, Nicole Hersmus, Rekin's Janky, Francis Impens, Pieter Vanden Berghe, Ritchie Ho, Dietmar Rudolf Thal, Rik Vandenberghe, Muralidhar L Hegde, Siddharthan Chandran, Bart De Strooper, Dirk Daelemans, Philip Van Damme, Ludo Van Den Bosch, Catherine Verfailli. CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2022-08-22. PMID:35993441. |
the most common genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) are hexanucleotide repeats in chromosome 9 open reading frame 72 (c9orf72). |
2022-08-22 |
2023-08-14 |
human |
| Elke Braems, Valérie Bercier, Evelien Van Schoor, Kara Heeren, Jimmy Beckers, Laura Fumagalli, Lieselot Dedeene, Matthieu Moisse, Ilse Geudens, Nicole Hersmus, Arpan R Mehta, Bhuvaneish T Selvaraj, Siddharthan Chandran, Ritchie Ho, Dietmar R Thal, Philip Van Damme, Bart Swinnen, Ludo Van Den Bosc. HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS. Acta neuropathologica. 2022-07-27. PMID:35895140. |
a 'ggggcc' repeat expansion in the first intron of the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2022-07-27 |
2023-08-14 |
zebrafish |
| Yuning Liu, Hong Xing, Alexis F Ernst, Canna Liu, Christian Maugee, Fumiaki Yokoi, Madepalli Lakshmana, Yuqing L. Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice. Molecular and cellular neurosciences. 2022-07-17. PMID:35843530. |
a hexanucleotide (ggggcc) repeat expansion in the first intron of the c9orf72 gene is the most frequently reported genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2022-07-17 |
2023-08-14 |
mouse |
| Sona Amalyan, Suhel Tamboli, Ivan Lazarevich, Dimitry Topolnik, Leandra Harriet Bouman, Lisa Topolni. Enhanced motor cortex output and disinhibition in asymptomatic female mice with C9orf72 genetic expansion. Cell reports. vol 40. issue 1. 2022-07-06. PMID:35793625. |
we report that asymptomatic female mice carrying the chromosome 9 open reading frame 72 (c9orf72) repeat expansion, which represents a high-prevalence genetic abnormality for human amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration (ftld) spectrum disorder, exhibit abnormal motor cortex output. |
2022-07-06 |
2023-08-14 |
mouse |
| b' S\\xc3\\xb2nia Sirisi, Marta Querol-Vilaseca, Oriol Dols-Icardo, Jordi Pegueroles, Victor Montal, Laia Mu\\xc3\\xb1oz, Soraya Torres, Paula Ferrer-Ravent\\xc3\\xb3s, Maria Florencia Iulita, \\xc3\\x89rika S\\xc3\\xa1nchez-Aced, Rafael Blesa, Ignacio Ill\\xc3\\xa1n-Gala, Laura Molina-Porcel, Sergi Borrego-Ecija, Raquel S\\xc3\\xa1nchez-Valle, Jordi Clarimon, Olivia Belbin, Juan Fortea, Alberto Lle\\xc3\\xb. Myelin loss in C9orf72 hexanucleotide expansion carriers. Journal of neuroscience research. 2022-06-29. PMID:35766328.' |
the most frequent genetic cause of frontotemporal lobar degeneration (ftld) and amyotrophic lateral sclerosis (als) is the hexanucleotide repeat expansion in c9orf72. |
2022-06-29 |
2023-08-14 |
human |
| Antonella Muroni, Gianluca Floris, Lorenzo Polizzi, Laura Fadda, Giuseppe Piga, Giulia Primicerio, Lorenzo Rocchi, Giovanni Defazi. Does epilepsy contribute to the clinical phenotype of C9orf72 mutation in fronto-temporal dementia? Epilepsy & behavior : E&B. vol 133. 2022-06-25. PMID:35752055. |
c9orf72 mutation is the most common genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) worldwide. |
2022-06-25 |
2023-08-14 |
Not clear |
| Andrew King, Yuan Kai Lee, Shalmai Jones, Claire Troake. A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy. Neuropathology : official journal of the Japanese Society of Neuropathology. 2022-06-24. PMID:35746899. |
a pathologically confirmed case of combined amyotrophic lateral sclerosis with c9orf72 mutation and multiple system atrophy. |
2022-06-24 |
2023-08-14 |
Not clear |
| Andrew King, Yuan Kai Lee, Shalmai Jones, Claire Troake. A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy. Neuropathology : official journal of the Japanese Society of Neuropathology. 2022-06-24. PMID:35746899. |
hexanucleotide repeat expansions in c9orf72 account for a large proportion of cases of amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration. |
2022-06-24 |
2023-08-14 |
Not clear |
| Wiktoria Radziwonik, Ewelina Elert-Dobkowska, Filip Tomczuk, Aleksandra Wozniak, Anna Sobanska, Iwona Stepniak, Dariusz Koziorowski, Jacek Zaremba, Anna Sułe. C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA). Neurologia i neurochirurgia polska. 2022-06-06. PMID:35661131. |
the expansion of a hexanucleotide ggggcc repeat (g4c2) in the c9orf72 locus is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2022-06-06 |
2023-08-14 |
Not clear |
| Gopinath Krishnan, Denitza Raitcheva, Daniel Bartlett, Mercedes Prudencio, Diane M McKenna-Yasek, Catherine Douthwright, Björn E Oskarsson, Shafeeq Ladha, Oliver D King, Sami J Barmada, Timothy M Miller, Robert Bowser, Jonathan K Watts, Leonard Petrucelli, Robert H Brown, Mark W Kankel, Fen-Biao Ga. Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD. Nature communications. vol 13. issue 1. 2022-05-19. PMID:35589711. |
ggggcc repeat expansion in c9orf72, which can be translated in both sense and antisense directions into five dipeptide repeat (dpr) proteins, including poly(gp), poly(gr), and poly(ga), is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2022-05-19 |
2023-08-13 |
Not clear |
| Klaus Højgaard Jensen, Anna Katharina Stalder, Rasmus Wernersson, Tim-Christoph Roloff-Handschin, Daniel Hvidberg Hansen, Peter M A Groene. A molecular view of amyotrophic lateral sclerosis through the lens of interaction network modules. PloS one. vol 17. issue 5. 2022-05-16. PMID:35576218. |
despite the discovery of familial cases with mutations in cu/zn-superoxide dismutase (sod1), guanine nucleotide exchange c9orf72, tar dna-binding protein 43 (tardbp) and rna-binding protein fus as well as a number of other genes linked to amyotrophic lateral sclerosis (als), the etiology and molecular pathogenesis of this devastating disease is still not understood. |
2022-05-16 |
2023-08-13 |
Not clear |
| D Saracino, I Le Be. How can we define the presymptomatic C9orf72 disease in 2022? An overview on the current definitions of preclinical and prodromal phases. Revue neurologique. 2022-05-07. PMID:35525633. |
repeat expansions in c9orf72 gene are the main genetic cause of frontotemporal dementia, amyotrophic lateral sclerosis and related phenotypes. |
2022-05-07 |
2023-08-13 |
Not clear |
| Sarah Burley, Dayne A Beccano-Kelly, Kevin Talbot, Oscar Cordero Llana, Richard Wade-Martin. Hyperexcitability in young iPSC-derived C9ORF72 mutant motor neurons is associated with increased intracellular calcium release. Scientific reports. vol 12. issue 1. 2022-05-05. PMID:35513421. |
a large hexanucleotide repeat expansion in the c9orf72 gene is the most prevalent cause of amyotrophic lateral sclerosis (als). |
2022-05-05 |
2023-08-13 |
Not clear |
| Xuejiao Piao, Dawei Meng, Xue Zhang, Qiang Song, Hailong Lv, Yichang Ji. Dual-gRNA approach with limited off-target effect corrects C9ORF72 repeat expansion in vivo. Scientific reports. vol 12. issue 1. 2022-04-06. PMID:35383205. |
c9orf72 ggggcc repeat expansion is the most common genetic cause for amyotrophic lateral sclerosis and frontotemporal dementia, which generates abnormal dna and rna structures and produces toxic proteins. |
2022-04-06 |
2023-08-13 |
Not clear |
| Brandie Morris Verdone, Maria Elena Cicardi, Xinmei Wen, Sindhu Sriramoji, Katelyn Russell, Shashirekha S Markandaiah, Brigid K Jensen, Karthik Krishnamurthy, Aaron R Haeusler, Piera Pasinelli, Davide Trott. A mouse model with widespread expression of the C9orf72-linked glycine-arginine dipeptide displays non-lethal ALS/FTD-like phenotypes. Scientific reports. vol 12. issue 1. 2022-04-05. PMID:35379876. |
translation of the hexanucleotide g4c2 expansion associated with c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (als/ftd) produces five different dipeptide repeat protein (dpr) species that can confer toxicity. |
2022-04-05 |
2023-08-13 |
mouse |
| Peng Tan, Tingting Hong, Xiaoli Cai, Wenbo Li, Yun Huang, Lian He, Yubin Zho. Optical control of protein delivery and partitioning in the nucleolus. Nucleic acids research. 2022-03-24. PMID:35325178. |
when coupled with the amyotrophic lateral sclerosis (als)-associated c9orf72 proline/arginine-rich dipeptide repeats, pnuts allow us to photomanipulate poly-proline-arginine nucleolar localization, perturb nucleolar protein nucleophosmin 1 and suppress nascent protein synthesis. |
2022-03-24 |
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 |