| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Noori Chai, Aaron D Gitle. Yeast screen for modifiers of C9orf72 poly(glycine-arginine) dipeptide repeat toxicity. FEMS yeast research. vol 18. issue 4. 2019-03-27. PMID:29528392. |
a hexanucleotide repeat expansion in the c9orf72 gene has been identified as the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2019-03-27 |
2023-08-13 |
human |
| Stina Leskelä, Mari Takalo, Mikael Marttinen, Nadine Huber, Jussi Paananen, Vikram Mitra, Tuomas Rauramaa, Petra Mäkinen, Ville Leinonen, Hilkka Soininen, Ian Pike, Anne M Remes, Mikko Hiltunen, Annakaisa Haapasal. Interrelationship between the Levels of C9orf72 and Amyloid-β Protein Precursor and Amyloid-β in Human Cells and Brain Samples. Journal of Alzheimer's disease : JAD. vol 62. issue 1. 2019-03-25. PMID:29439323. |
a subset of c9orf72 repeat expansion-carrying frontotemporal dementia patients display an alzheimer-like decrease in cerebrospinal fluid amyloid-β (aβ) biomarker levels. |
2019-03-25 |
2023-08-13 |
human |
| Ke Zhang, J Gavin Daigle, Kathleen M Cunningham, Alyssa N Coyne, Kai Ruan, Jonathan C Grima, Kelly E Bowen, Harsh Wadhwa, Peiguo Yang, Frank Rigo, J Paul Taylor, Aaron D Gitler, Jeffrey D Rothstein, Thomas E Lloy. Stress Granule Assembly Disrupts Nucleocytoplasmic Transport. Cell. vol 173. issue 4. 2019-02-20. PMID:29628143. |
defects in nucleocytoplasmic transport have been identified as a key pathogenic event in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) mediated by a ggggcc hexanucleotide repeat expansion in c9orf72, the most common genetic cause of als/ftd. |
2019-02-20 |
2023-08-13 |
Not clear |
| Tomonori Shibata, Eitaro Murakami, Kazuhiko Nakatan. 1,3-Di(quinolin-2-yl)guanidine binds to GGCCCC hexanucleotide repeat DNA in C9ORF72. Bioorganic & medicinal chemistry letters. vol 28. issue 14. 2019-02-13. PMID:29929880. |
aberrant expansion of ggggcc (g4c2) hexanucleotide repeat (hnr) in the first intron of c9orf72 has been found in frontotemporal dementia and amyotrophic lateral sclerosis (ftd/ald). |
2019-02-13 |
2023-08-13 |
Not clear |
| Anthony Fourier, Maité Formaglio, Mathilde Sauvée, Armand Perret-Liaudet, Philippe Latour, Muriel Bost, Isabelle Quadri. C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia. Dementia and geriatric cognitive disorders. vol 46. issue 3-4. 2019-01-28. PMID:30261505. |
c9orf72 protein plasmatic concentrations are similar between c9orf72 expansion carriers and noncarriers in frontotemporal dementia. |
2019-01-28 |
2023-08-13 |
Not clear |
| Anthony Fourier, Maité Formaglio, Mathilde Sauvée, Armand Perret-Liaudet, Philippe Latour, Muriel Bost, Isabelle Quadri. C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia. Dementia and geriatric cognitive disorders. vol 46. issue 3-4. 2019-01-28. PMID:30261505. |
the aim of the study was to assess the theory of haploinsufficiency in c9orf72 expansion carriers, the most frequent causative gene of frontotemporal dementia. |
2019-01-28 |
2023-08-13 |
Not clear |
| Qiang Guo, Carina Lehmer, Antonio Martínez-Sánchez, Till Rudack, Florian Beck, Hannelore Hartmann, Manuela Pérez-Berlanga, Frédéric Frottin, Mark S Hipp, F Ulrich Hartl, Dieter Edbauer, Wolfgang Baumeister, Rubén Fernández-Busnadieg. In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment. Cell. vol 172. issue 4. 2019-01-14. PMID:29398115. |
we focus on the poly-gly-ala (poly-ga) aggregates resulting from aberrant translation of an expanded ggggcc repeat in c9orf72, the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2019-01-14 |
2023-08-13 |
Not clear |
| Tu-Hsueh Yeh, Han-Fang Liu, Yu-Wen Li, Chin-Song Lu, Hung-Yu Shih, Ching-Chi Chiu, Sheng-Jia Lin, Yin-Cheng Huang, Yi-Chuan Chen. C9orf72 is essential for neurodevelopment and motility mediated by Cyclin G1. Experimental neurology. vol 304. 2019-01-07. PMID:29522758. |
hexanucleotide repeat expansions in the c9orf72 gene are a common genetic cause of familial and sporadic amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2019-01-07 |
2023-08-13 |
zebrafish |
| Cinzia Tiloca, Melissa Sorosina, Federica Esposito, Silvia Peroni, Claudia Colombrita, Nicola Ticozzi, Antonia Ratti, Filippo Martinelli-Boneschi, Vincenzo Silan. No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis. Multiple sclerosis and related disorders. vol 25. 2018-12-18. PMID:30099204. |
pathological repeat expansion (re) of the c9orf72 hexanucleotide sequence is associated to amyotrophic lateral sclerosis (als) and frontotemporal dementia disease continuum, although other heterogeneous clinical phenotypes have been documented. |
2018-12-18 |
2023-08-13 |
Not clear |
| Natalie A Murphy, Karissa C Arthur, Pentti J Tienari, Henry Houlden, Adriano Chiò, Bryan J Trayno. Age-related penetrance of the C9orf72 repeat expansion. Scientific reports. vol 7. issue 1. 2018-12-17. PMID:28522837. |
a pathogenic hexanucleotide repeat expansion within the c9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2018-12-17 |
2023-08-13 |
Not clear |
| Weiwei Cheng, Shaopeng Wang, Alexander A Mestre, Chenglai Fu, Andres Makarem, Fengfan Xian, Lindsey R Hayes, Rodrigo Lopez-Gonzalez, Kevin Drenner, Jie Jiang, Don W Cleveland, Shuying Su. C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation. Nature communications. vol 9. issue 1. 2018-12-12. PMID:29302060. |
hexanucleotide repeat expansion in c9orf72 is the most frequent cause of both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2018-12-12 |
2023-08-13 |
Not clear |
| Guillaume M Hautbergue, Lydia M Castelli, Laura Ferraiuolo, Alvaro Sanchez-Martinez, Johnathan Cooper-Knock, Adrian Higginbottom, Ya-Hui Lin, Claudia S Bauer, Jennifer E Dodd, Monika A Myszczynska, Sarah M Alam, Pierre Garneret, Jayanth S Chandran, Evangelia Karyka, Matthew J Stopford, Emma F Smith, Janine Kirby, Kathrin Meyer, Brian K Kaspar, Adrian M Isaacs, Sherif F El-Khamisy, Kurt J De Vos, Ke Ning, Mimoun Azzouz, Alexander J Whitworth, Pamela J Sha. SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nature communications. vol 8. 2018-12-11. PMID:28677678. |
hexanucleotide repeat expansions in the c9orf72 gene are the commonest known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2018-12-11 |
2023-08-13 |
drosophila_melanogaster |
| Jianying Shen, Yu Zhang, Shi Zhao, Hong Mao, Zhongjing Wang, Honglian Li, Zihui X. Purα Repaired Expanded Hexanucleotide GGGGCC Repeat Noncoding RNA-Caused Neuronal Toxicity in Neuro-2a Cells. Neurotoxicity research. vol 33. issue 4. 2018-12-11. PMID:28975482. |
expanded hexanucleotide ggggcc repeat in a noncoding region of c9orf72 is the most common cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2018-12-11 |
2023-08-13 |
Not clear |
| Bo Zhou, Yanyan Geng, Changdong Liu, Haitao Miao, Yaguang Ren, Naining Xu, Xiao Shi, Yingying You, Tunglun Lee, Guang Zh. Characterizations of distinct parallel and antiparallel G-quadruplexes formed by two-repeat ALS and FTD related GGGGCC sequence. Scientific reports. vol 8. issue 1. 2018-12-11. PMID:29402965. |
the large expansion of ggggcc (g4c2) repeats of the c9orf72 gene have been found to lead to the pathogenesis of devastating neurological diseases, amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2018-12-11 |
2023-08-13 |
Not clear |
| Yang Liu, Tao Wang, Yon Ju Ji, Kenji Johnson, Honghe Liu, Kaitlin Johnson, Scott Bailey, Yongwon Suk, Yu-Ning Lu, Mingming Liu, Jiou Wan. A C9orf72-CARM1 axis regulates lipid metabolism under glucose starvation-induced nutrient stress. Genes & development. vol 32. issue 21-22. 2018-11-19. PMID:30366907. |
we report here that c9orf72, which is linked to the most common forms of the neurodegenerative diseases amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), is a key regulator of lipid metabolism under stress. |
2018-11-19 |
2023-08-13 |
human |
| Christopher P Webster, Emma F Smith, Andrew J Grierson, Kurt J De Vo. C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy. Small GTPases. vol 9. issue 5. 2018-10-30. PMID:27768524. |
a ggggcc hexanucleotide repeat expansion in the first intron of the c9orf72 gene is the most common genetic defect associated with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) (c9als/ftd). |
2018-10-30 |
2023-08-13 |
Not clear |
| Adeline S L Ng, Yi Jayne Tan, Zhao Yi, Moses Tandiono, Elaine Chew, Jacqueline Dominguez, Mabel Macas, Ebonne Ng, Shahul Hameed, Simon Ting, Eng King Tan, Jia Nee Foo, Nagaendran Kandia. Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. Neurobiology of aging. vol 68. 2018-10-16. PMID:29748150. |
to identify genes associated with frontotemporal dementia (ftd) in south-east asia, targeted exome sequencing and c9orf72 genotyping was performed in 198 subjects (52 patients with ftd and 146 healthy controls) who were screened for mutations in 12 ftd-associated genes. |
2018-10-16 |
2023-08-13 |
human |
| Chrisoula Kartanou, Georgia Karadima, Georgios Koutsis, Marianthi Breza, Sokratis G Papageorgiou, George P Paraskevas, Elisabeth Kapaki, Marios Pana. Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 19. issue 1-2. 2018-09-06. PMID:29166782. |
screening for the c9orf72 repeat expansion in a greek frontotemporal dementia cohort. |
2018-09-06 |
2023-08-13 |
Not clear |
| Chrisoula Kartanou, Georgia Karadima, Georgios Koutsis, Marianthi Breza, Sokratis G Papageorgiou, George P Paraskevas, Elisabeth Kapaki, Marios Pana. Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 19. issue 1-2. 2018-09-06. PMID:29166782. |
the c9orf72 repeat expansion is a common genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) in european populations. |
2018-09-06 |
2023-08-13 |
Not clear |
| E Devenney, T Swinn, E Mioshi, M Hornberger, K E Dawson, S Mead, J B Rowe, J R Hodge. The behavioural variant frontotemporal dementia phenocopy syndrome is a distinct entity - evidence from a longitudinal study. BMC neurology. vol 18. issue 1. 2018-08-23. PMID:29704893. |
this study aimed to i) examine the frequency of c9orf72 expansions in a cohort of patients with the behavioural variant frontotemporal dementia (bvftd) phenocopy syndrome, ii) observe outcomes in a group of phenocopy syndrome with very long term follow-up and iii) compare progression in a cohort of patients with the phenocopy syndrome to a cohort of patients with probable bvftd. |
2018-08-23 |
2023-08-13 |
Not clear |