| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aleksandra Kaliszewska, Joseph Allison, Tarik-Tarkan Col, Christopher Shaw, Natalia Aria. Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD - a Systematic Review and Meta-Analysis. Cerebellum (London, England). 2021-09-07. PMID:34491551. |
a hexanucleotide repeat expansion in the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) with synaptic dysfunction identified as an early pathological hallmark. |
2021-09-07 |
2023-08-13 |
human |
| Rebecca E Waugh, Laura E Danielian, Rachel F Smallwood Shoukry, Mary Kay Floete. Longitudinal changes in network homogeneity in presymptomatic C9orf72 mutation carriers. Neurobiology of aging. vol 99. 2021-09-01. PMID:33421737. |
the risk for carriers of repeat expansion mutations in c9orf72 to develop amyotrophic lateral sclerosis and frontotemporal dementia increases with age. |
2021-09-01 |
2023-08-13 |
Not clear |
| Hana M Odeh, James Shorte. Arginine-rich dipeptide-repeat proteins as phase disruptors in C9-ALS/FTD. Emerging topics in life sciences. vol 4. issue 3. 2021-08-30. PMID:32639008. |
a hexanucleotide repeat expansion ggggcc (g4c2) within chromosome 9 open reading frame 72 (c9orf72) is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9-als/ftd). |
2021-08-30 |
2023-08-13 |
Not clear |
| Arun Pal, Benedikt Kretner, Masin Abo-Rady, Hannes Glaβ, Banaja P Dash, Marcel Naumann, Julia Japtok, Nicole Kreiter, Ashutosh Dhingra, Peter Heutink, Tobias M Böckers, René Günther, Jared Sterneckert, Andreas Herman. Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis. Life science alliance. vol 4. issue 4. 2021-08-30. PMID:33619157. |
concomitant gain and loss of function pathomechanisms in c9orf72 amyotrophic lateral sclerosis. |
2021-08-30 |
2023-08-13 |
Not clear |
| Shaopeng Wang, Malgorzata J Latallo, Zhe Zhang, Bo Huang, Dmitriy G Bobrovnikov, Daoyuan Dong, Nathan M Livingston, Wilson Tjoeng, Lindsey R Hayes, Jeffrey D Rothstein, Lyle W Ostrow, Bin Wu, Shuying Su. Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD. Nature communications. vol 12. issue 1. 2021-08-30. PMID:34389711. |
c9orf72 hexanucleotide ggggcc repeat expansion is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-08-30 |
2023-08-13 |
Not clear |
| Maya Maor-Nof, Zohar Shipony, Rodrigo Lopez-Gonzalez, Lisa Nakayama, Yong-Jie Zhang, Julien Couthouis, Jacob A Blum, Patricia A Castruita, Gabriel R Linares, Kai Ruan, Gokul Ramaswami, David J Simon, Aviv Nof, Manuel Santana, Kyuho Han, Nasa Sinnott-Armstrong, Michael C Bassik, Daniel H Geschwind, Marc Tessier-Lavigne, Laura D Attardi, Thomas E Lloyd, Justin K Ichida, Fen-Biao Gao, William J Greenleaf, Jennifer S Yokoyama, Leonard Petrucelli, Aaron D Gitle. p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR). Cell. vol 184. issue 3. 2021-08-24. PMID:33482083. |
the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is a ggggcc repeat expansion in the c9orf72 gene. |
2021-08-24 |
2023-08-13 |
mouse |
| Nidaa A Ababneh, Jakub Scaber, Rowan Flynn, Andrew Douglas, Paola Barbagallo, Ana Candalija, Martin R Turner, David Sims, Ruxandra Dafinca, Sally A Cowley, Kevin Talbo. Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair. Human molecular genetics. vol 29. issue 13. 2021-08-20. PMID:32504093. |
correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in c9orf72 by crispr/cas9 genome editing using homology-directed repair. |
2021-08-20 |
2023-08-13 |
Not clear |
| Nidaa A Ababneh, Jakub Scaber, Rowan Flynn, Andrew Douglas, Paola Barbagallo, Ana Candalija, Martin R Turner, David Sims, Ruxandra Dafinca, Sally A Cowley, Kevin Talbo. Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair. Human molecular genetics. vol 29. issue 13. 2021-08-20. PMID:32504093. |
the g4c2 hexanucleotide repeat expansion (hre) in c9orf72 is the commonest cause of familial amyotrophic lateral sclerosis (als). |
2021-08-20 |
2023-08-13 |
Not clear |
| Brigid K Jensen, Martin H Schuldi, Kevin McAvoy, Katelyn A Russell, Ashley Boehringer, Bridget M Curran, Karthik Krishnamurthy, Xinmei Wen, Thomas Westergard, Le Ma, Aaron R Haeusler, Dieter Edbauer, Piera Pasinelli, Davide Trott. Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment. EMBO molecular medicine. vol 12. issue 5. 2021-08-18. PMID:32347002. |
the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is an intronic hexanucleotide repeat expansion in the c9orf72 gene. |
2021-08-18 |
2023-08-13 |
mouse |
| Pol Andrés-Benito, Ellen Gelpi, Mariona Jové, Natalia Mota-Martorell, Èlia Obis, Manuel Portero-Otin, Mònica Povedano, Aurora Pujol, Reinald Pamplona, Isidro Ferre. Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment. Neuropathology and applied neurobiology. vol 47. issue 4. 2021-08-18. PMID:33332650. |
cases of frontotemporal lobar degeneration-tdp43 (ftld-tdp), manifested as sporadic (sftld-tdp) or linked to mutations in various genes including expansions of the non-coding region of c9orf72 (c9ftld), and of sporadic amyotrophic lateral sclerosis (sals) as the most common tdp43 proteinopathies, were analysed. |
2021-08-18 |
2023-08-13 |
human |
| Zoé Butti, Yingzhou Edward Pan, Jean Giacomotto, Shunmoogum A Patte. Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish. Communications biology. vol 4. issue 1. 2021-08-16. PMID:34172817. |
the most common genetic cause of amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd) is a hexanucleotide repeat expansion within the c9orf72 gene. |
2021-08-16 |
2023-08-13 |
zebrafish |
| Sigrid Klotz, Theresa König, Marcus Erdler, Andreas Ulram, Anita Nguyen, Thomas Ströbel, Alexander Zimprich, Elisabeth Stögmann, Günther Regelsberger, Romana Höftberger, Herbert Budka, Gabor G Kovacs, Ellen Gelp. Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease. European journal of neurology. vol 28. issue 3. 2021-08-12. PMID:33131137. |
the c9orf72 hexanucleotide expansion mutation is the most common cause of genetic frontotemporal dementia (ftd), amyotrophic lateral sclerosis (als) and combined ftd-als. |
2021-08-12 |
2023-08-13 |
Not clear |
| Yu A Shpilyukova, E Yu Fedotova, N Yu Abramycheva, I A Kochergin, I V Zakroyshchikova, M N Zakharova, S N Illarioshki. C9orf72 Gene Expression in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Bulletin of experimental biology and medicine. vol 169. issue 5. 2021-08-09. PMID:32990847. |
c9orf72 gene expression in frontotemporal dementia and amyotrophic lateral sclerosis. |
2021-08-09 |
2023-08-13 |
Not clear |
| Yu A Shpilyukova, E Yu Fedotova, N Yu Abramycheva, I A Kochergin, I V Zakroyshchikova, M N Zakharova, S N Illarioshki. C9orf72 Gene Expression in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Bulletin of experimental biology and medicine. vol 169. issue 5. 2021-08-09. PMID:32990847. |
we studied the expression of c9orf72 gene in pathologies associated with hexanucleotide repeats expansion in this gene: frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2021-08-09 |
2023-08-13 |
Not clear |
| Deepti Lall, Ileana Lorenzini, Thomas A Mota, Shaughn Bell, Thomas E Mahan, Jason D Ulrich, Hayk Davtyan, Jessica E Rexach, A K M Ghulam Muhammad, Oksana Shelest, Jesse Landeros, Michael Vazquez, Junwon Kim, Layla Ghaffari, Jacqueline Gire O'Rourke, Daniel H Geschwind, Mathew Blurton-Jones, David M Holtzman, Rita Sattler, Robert H Balo. C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation. Neuron. vol 109. issue 14. 2021-08-09. PMID:34133945. |
c9orf72 repeat expansions cause inherited amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd) and result in both loss of c9orf72 protein expression and production of potentially toxic rna and dipeptide repeat proteins. |
2021-08-09 |
2023-08-13 |
mouse |
| L Sellami, D Saracino, I Le Be. Genetic forms of frontotemporal lobar degeneration: Current diagnostic approach and new directions in therapeutic strategies. Revue neurologique. vol 176. issue 7-8. 2021-08-06. PMID:32312500. |
three major genes, namely progranulin (grn), c9orf72 and mapt, as well as several less common genes, are responsible for the majority of familial cases and for a significant proportion of sporadic forms, including ftld with or without associated amyotrophic lateral sclerosis and some rarer clinical presentations. |
2021-08-06 |
2023-08-13 |
Not clear |
| Israel Ben-Dor, Crystal Pacut, Yuval Nevo, Eva L Feldman, Benjamin E Reubinof. Characterization of C9orf72 haplotypes to evaluate the effects of normal and pathological variations on its expression and splicing. PLoS genetics. vol 17. issue 3. 2021-08-02. PMID:33780440. |
expansion of the hexanucleotide repeat (hr) in the first intron of the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in caucasians. |
2021-08-02 |
2023-08-13 |
Not clear |
| M-D-M Amador, F Muratet, E Teyssou, S Boillée, S Millecamp. New advances in Amyotrophic Lateral Sclerosis genetics: Towards gene therapy opportunities for familial and young cases. Revue neurologique. vol 177. issue 5. 2021-07-29. PMID:33810837. |
screening of four main genes (c9orf72, sod1, tardbp and fus) identified the causes in 15% of amyotrophic lateral sclerosis (als) patients (two third of the familial cases and 8% of the sporadic ones) but their respective contribution to als phenotype varies according the age of disease onset. |
2021-07-29 |
2023-08-13 |
Not clear |
| Xue Wen, Ping An, Hexuan Li, Zijian Zhou, Yimin Sun, Jian Wang, Lixiang Ma, Boxun L. Tau Accumulation via Reduced Autophagy Mediates GGGGCC Repeat Expansion-Induced Neurodegeneration in Drosophila Model of ALS. Neuroscience bulletin. vol 36. issue 12. 2021-07-28. PMID:32500377. |
expansions of trinucleotide or hexanucleotide repeats lead to several neurodegenerative disorders, including huntington disease [caused by expanded cag repeats (cagr) in the htt gene], and amyotrophic lateral sclerosis [als, possibly caused by expanded ggggcc repeats (g4c2r) in the c9orf72 gene], of which the molecular mechanisms remain unclear. |
2021-07-28 |
2023-08-13 |
human |
| Alice S Chen-Plotki. Of mice and men: What a mouse model of microglial C9ORF72 deficiency does-and does not-tell us about human neurodegenerative diseases. Neuron. vol 109. issue 14. 2021-07-28. PMID:34293287. |
expansions in c9orf72, which cause frontotemporal dementia and amyotrophic lateral sclerosis, result in formation of aberrant peptide and rna species and decreased expression of the normal gene. |
2021-07-28 |
2023-08-13 |
mouse |