| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, Valeria Casiraghi, Silvia Peverelli, Alberto Brusati, Claudia Colombrita, Nicola Ticozzi, Vincenzo Silani, Patrizia Bossolasco, Antonia Ratt. NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons. Human molecular genetics. 2024-09-02. PMID:39222049. |
the hexanucleotide g4c2 repeat expansion (hre) in c9orf72 gene is the major cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), leading to both loss- and gain-of-function pathomechanisms. |
2024-09-02 |
2024-09-04 |
Not clear |
| David J Burrows, Alexander McGown, Olfat Abduljabbar, Lydia M Castelli, Pamela J Shaw, Guillaume M Hautbergue, Tennore M Rames. RAN Translation of C9orf72-Related Dipeptide Repeat Proteins in Zebrafish Recapitulates Hallmarks of Amyotrophic Lateral Sclerosis and Identifies Hypothermia as a Therapeutic Strategy. Annals of neurology. 2024-08-31. PMID:39215697. |
hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-08-31 |
2024-09-04 |
zebrafish |
| Rong Wu, Yingzhi Ye, Daoyuan Dong, Zhe Zhang, Shaopeng Wang, Yini Li, Noelle Wright, Javier Redding-Ochoa, Koping Chang, Shaohai Xu, Xueting Tu, Chengzhang Zhu, Lyle W Ostrow, Xavier Roca, Juan C Troncoso, Bin Wu, Shuying Su. Disruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS. Neuron. 2024-08-24. PMID:39181135. |
expansion of an intronic (ggggcc)n repeat within the c9orf72 gene is the most common genetic cause of both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) (c9-ftd/als), characterized with aberrant repeat rna foci and noncanonical translation-produced dipeptide repeat (dpr) protein inclusions. |
2024-08-24 |
2024-08-28 |
mouse |
| Yachen Wu, Wenzhong Zheng, Guofeng Xu, Lijun Zhu, Zhiqiang Li, Jincao Chen, Lianrong Wang, Shi Che. C9orf72 controls hepatic lipid metabolism by regulating SREBP1 transport. Cell death and differentiation. vol 31. issue 8. 2024-08-06. PMID:38816580. |
the repetitive expansion of the hexanucleotide sequence ggggcc within the chromosome 9 open reading frame 72 (c9orf72) gene is a prevalent factor in the development of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-08-06 |
2024-08-09 |
Not clear |
| Ashlin R K Roy, Fate Noohi, Nathaniel A Morris, Peter Ljubenkov, Hilary Heuer, Jamie Fong, Matthew Hall, Argentina Lario Lago, Katherine P Rankin, Bruce L Miller, Adam L Boxer, Howard J Rosen, William W Seeley, David C Perry, Jennifer S Yokoyama, Suzee E Lee, Virginia E Stur. Basal parasympathetic deficits in C9orf72 hexanucleotide repeat expansion carriers relate to smaller frontoinsula and thalamus volume and lower empathy. NeuroImage. Clinical. vol 43. 2024-08-04. PMID:39098187. |
individuals with a pathogenic expansion of the hexanucleotide repeat in chromosome 9 open reading frame 72 (c9orf72), the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, provide a unique opportunity to examine whether parasympathetic activity is disrupted in genetic forms of frontotemporal dementia and to investigate when parasympathetic deficits manifest in the pathophysiological cascade. |
2024-08-04 |
2024-08-07 |
human |
| Hsiao-Lin V Wang, Jian-Feng Xiang, Chenyang Yuan, Austin M Veire, Tania F Gendron, Melissa E Murray, Malu G Tansey, Jian Hu, Marla Gearing, Jonathan D Glass, Peng Jin, Victor G Corces, Zachary T McEachi. pTDP-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of bioRxiv : the preprint server for biology. 2024-06-18. PMID:36711601. |
ptdp-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of repeat expansions in the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis and familial frontotemporal dementia (als/ftd). |
2024-06-18 |
2024-06-21 |
Not clear |
| Yanyan Geng, Changdong Liu, Naining Xu, Monica Ching Suen, Haitao Miao, Yuanyuan Xie, Bingchang Zhang, Xueqin Chen, Yuanjian Song, Zhanxiang Wang, Qixu Cai, Guang Zh. Crystal structure of a tetrameric RNA G-quadruplex formed by hexanucleotide repeat expansions of C9orf72 in ALS/FTD. Nucleic acids research. 2024-06-11. PMID:38860430. |
the abnormal ggggcc hexanucleotide repeat expansions (hres) in c9orf72 cause the fatal neurodegenerative diseases including amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-06-11 |
2024-06-14 |
Not clear |
| b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' |
most of the heritability in frontotemporal dementia (ftd) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (c9orf72), pathogenic/likely pathogenic variants in progranulin (grn), and microtubule-associated protein tau (mapt) genes. |
2024-06-07 |
2024-06-10 |
human |
| Leanne Jiang, Timothy J Tracey, Melinder K Gill, Stephanie L Howe, Dominique T Power, Vanda Bharti, Pamela A McCombe, Robert D Henderson, Frederik J Steyn, Shyuan T Ng. Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients. Stem cell research. vol 78. 2024-05-26. PMID:38796984. |
generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial sod1, and familial c9orf72 amyotrophic lateral sclerosis (als) patients. |
2024-05-26 |
2024-05-31 |
human |
| Leanne Jiang, Timothy J Tracey, Melinder K Gill, Stephanie L Howe, Dominique T Power, Vanda Bharti, Pamela A McCombe, Robert D Henderson, Frederik J Steyn, Shyuan T Ng. Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients. Stem cell research. vol 78. 2024-05-26. PMID:38796984. |
to model clinical heterogeneity, we generated human induced pluripotent stem cells (ipscs) from two sporadic als patients (sporadic als and sporadic als with frontotemporal dementia), two familial als patients (familial sod1 mutation positive and familial c9orf72 repeat expansion positive), and four age- and sex-matched healthy controls. |
2024-05-26 |
2024-05-31 |
human |
| Leszek Błaszczyk, Marcin Ryczek, Bimolendu Das, Martyna Mateja-Pluta, Magdalena Bejger, Joanna Śliwiak, Kazuhiko Nakatani, Agnieszka Kilisze. Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. Nucleic acids research. 2024-05-13. PMID:38738637. |
antisense rna c9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. |
2024-05-13 |
2024-05-27 |
Not clear |
| Leszek Błaszczyk, Marcin Ryczek, Bimolendu Das, Martyna Mateja-Pluta, Magdalena Bejger, Joanna Śliwiak, Kazuhiko Nakatani, Agnieszka Kilisze. Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. Nucleic acids research. 2024-05-13. PMID:38738637. |
the abnormal expansion of ggggcc/ggcccc hexanucleotide repeats (hr) in c9orf72 is associated with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-05-13 |
2024-05-27 |
Not clear |
| Jessica Sultana, Audrey M G Ragagnin, Sonam Parakh, Sayanthooran Saravanabavan, Kai Ying Soo, Marta Vidal, Cyril Jones Jagaraj, Kunjie Ding, Sharlynn Wu, Sina Shadfar, Emily K Don, Anand Deva, Garth Nicholson, Dominic B Rowe, Ian Blair, Shu Yang, Julie D Atki. C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD. Molecular neurobiology. 2024-05-09. PMID:38722513. |
hexanucleotide repeat expansions (hres) in the chromosome 9 open reading frame 72 (c9orf72) gene are the most frequent genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-05-09 |
2024-05-27 |
Not clear |
| Zhiyuan Huang, Yixin Zhou, Yang Liu, Jiou Wan. Protocol to identify DNA-binding proteins recognizing nucleotide repeat dsDNAs. STAR protocols. vol 5. issue 2. 2024-04-13. PMID:38613779. |
here, we present a protocol to discover proteins specifically interacting with a hexanucleotide repeat dna, the expansion of which is known as the most frequent genetic cause of familial c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-04-13 |
2024-04-16 |
Not clear |
| Nada Kojak, Junko Kuno, Kristina E Fittipaldi, Ambereen Khan, David Wenger, Michael Glasser, Roberto A Donnianni, Yajun Tang, Jade Zhang, Katie Huling, Roxanne Ally, Alejandro O Mujica, Terrence Turner, Gina Magardino, Pei Yi Huang, Sze Yen Kerk, Gustavo Droguett, Marine Prissette, Jose Rojas, Teodoro Gomez, Anthony Gagliardi, Charleen Hunt, Jeremy S Rabinowitz, Guochun Gong, William Poueymirou, Eric Chiao, Brian Zambrowicz, Chia-Jen Siao, Daisuke Kajimur. Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model. Nucleic acids research. 2024-04-10. PMID:38597682. |
expansion of a g4c2 repeat in the c9orf72 gene is associated with familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-04-10 |
2024-04-12 |
mouse |
| Xiujuan Fu, Zhe Zhang, Lindsey R Hayes, Noelle Wright, Julie Asbury, Shelley Li, Yingzhi Ye, Shuying Su. DDX3X overexpression decreases dipeptide repeat proteins in a mouse model of C9ORF72-ALS/FTD. Experimental neurology. 2024-03-31. PMID:38556190. |
hexanucleotide repeat expansion in c9orf72 (c9) is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-03-31 |
2024-04-03 |
mouse |
| Christine Marques, Aaron Held, Katherine Dorfman, Joon Sung, Catherine Song, Amey S Kavuturu, Corey Aguilar, Tommaso Russo, Derek H Oakley, Mark W Albers, Bradley T Hyman, Leonard Petrucelli, Clotilde Lagier-Tourenne, Brian J Wainge. Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia. Acta neuropathologica. vol 147. issue 1. 2024-03-13. PMID:38478117. |
concordant sting activation in layer v cortical motor neurons occurs in a mouse model of c9orf72 repeat-associated als and frontotemporal dementia (ftd). |
2024-03-13 |
2024-03-16 |
mouse |
| Chong Gao, Qinghua Shi, Xue Pan, Jiajia Chen, Yuhong Zhang, Jiali Lang, Shan Wen, Xiaodong Liu, Tian-Lin Cheng, Kai Le. Neuromuscular organoids model spinal neuromuscular pathologies in C9orf72 amyotrophic lateral sclerosis. Cell reports. vol 43. issue 3. 2024-03-03. PMID:38431841. |
hexanucleotide repeat expansions in the c9orf72 gene are the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2024-03-03 |
2024-03-06 |
Not clear |
| Yi-Ju Tseng, Amy Krans, Indranil Malik, Xiexiong Deng, Evrim Yildirim, Sinem Ovunc, Elizabeth M H Tank, Karen Jansen-West, Ross Kaufhold, Nicolas B Gomez, Roger Sher, Leonard Petrucelli, Sami J Barmada, Peter K Tod. Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats. Nucleic acids research. 2024-02-27. PMID:38412259. |
a ggggcc (g4c2) hexanucleotide repeat expansion in c9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd), while a cgg trinucleotide repeat expansion in fmr1 leads to the neurodegenerative disorder fragile x-associated tremor/ataxia syndrome (fxtas). |
2024-02-27 |
2024-03-01 |
Not clear |
| Shoya Fukatsu, Hinami Sashi, Remina Shirai, Norio Takagi, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto, Junji Yamauch. Rab11a Controls Cell Shape via C9orf72 Protein: Possible Relationships to Frontotemporal Dementia/Amyotrophic Lateral Sclerosis (FTDALS) Type 1. Pathophysiology : the official journal of the International Society for Pathophysiology. vol 31. issue 1. 2024-02-23. PMID:38390945. |
abnormal nucleotide insertions of c9orf72, which forms a complex with smith-magenis syndrome chromosomal region candidate gene 8 (smcr8) protein and wd repeat-containing protein 41 (wdr41) protein, are associated with an autosomal-dominant neurodegenerative frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 (ftdals1). |
2024-02-23 |
2024-02-25 |
Not clear |