| 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 |
| Inge R Holtman, Christopher K Glass, Alexi Not. Interpretation of Neurodegenerative GWAS Risk Alleles in Microglia and their Interplay with Other Cell Types. Advances in neurobiology. vol 37. 2024-08-29. PMID:39207711. |
gwas studies implicate microglia in the pathogenesis of alzheimer's disease (ad), parkinson's disease (pd), multiple sclerosis (ms), and to a lesser degree suggest a role for microglia in vascular dementia (vad), frontotemporal dementia (ftd), and amyotrophic lateral sclerosis (als), and other neurodegenerative and neuropsychiatric disorders. |
2024-08-29 |
2024-09-04 |
Not clear |
| 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 |
| Anika Wu, Daehoon Lee, Wen-Cheng Xion. VPS35 or retromer as a potential target for neurodegenerative disorders: barriers to progress. Expert opinion on therapeutic targets. 2024-08-23. PMID:39175128. |
a missense mutation, asp620asn (d620n), specifically ties to familial late-onset parkinson's, while reduced vps35 levels are observed in alzheimer's, amyotrophic lateral sclerosis (als), frontotemporal dementia (ftd), and tauopathies. |
2024-08-23 |
2024-08-25 |
Not clear |
| Shih-Yu Fang, Pei-Chien Tsai, Kang-Yang Jih, Fang-Chi Hsu, Yi-Chu Liao, Chih-Chao Yang, Yi-Chung Le. TBK1 p.Y153Qfs*9 variant may be associated with young-onset, rapidly progressive amyotrophic lateral sclerosis through a haploinsufficiency mechanism. Journal of the Chinese Medical Association : JCMA. 2024-08-09. PMID:39118204. |
tbk1 variants have been implicated in the pathogenesis of amyotrophic lateral sclerosis (als) and frontotemporal dementia spectrum disorder. |
2024-08-09 |
2024-08-12 |
Not clear |
| 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 |
| Gabriel Talaia, Amanda Bentley-DeSousa, Shawn M Ferguso. Lysosomal TBK1 responds to amino acid availability to relieve Rab7-dependent mTORC1 inhibition. The EMBO journal. 2024-08-05. PMID:39103493. |
furthermore, a tbk1 mutant (e696k) associated with amyotrophic lateral sclerosis and frontotemporal dementia constitutively accumulates at lysosomes, resulting in elevated rab7 phosphorylation and increased mtorc1 activation. |
2024-08-05 |
2024-08-08 |
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 |
| Sadhana Sharma, Vincenzo S Gilberto, Jon Rask, Anushree Chatterjee, Prashant Nagpa. Inflammasome-Inhibiting Nanoligomers Are Neuroprotective against Space-Induced Pathology in Healthy and Diseased Three-Dimensional Human Motor and Prefrontal Cortex Brain Organoids. ACS chemical neuroscience. 2024-07-31. PMID:39084211. |
first, comparing 3d healthy and diseased prefrontal cortex (pfc, for cognition) and motor neuron (mn, for neuromuscular function) organoids, we assessed space-induced pathology using biomarkers relevant to alzheimer's disease (ad), frontotemporal dementia (ftd), and amyotrophic lateral sclerosis (als). |
2024-07-31 |
2024-08-03 |
human |
| Cui Yang, Guangdong Liu, Xi Chen, Weidong L. Cerebellum in Alzheimer's disease and other neurodegenerative diseases: an emerging research frontier. MedComm. vol 5. issue 7. 2024-07-16. PMID:39006764. |
alzheimer's disease (ad), alongside other dementias such as vascular dementia (vad), lewy body dementia (dlb), and frontotemporal dementia (ftd), as well as other neurodegenerative diseases (nds) like parkinson's disease (pd), amyotrophic lateral sclerosis (als), huntington's disease (hd), and spinocerebellar ataxias (sca), are characterized by specific and non-specific neurodegenerations in central nervous system. |
2024-07-16 |
2024-07-18 |
Not clear |
| Guimei Yu, Yunpeng Bai, Zhong-Yin Zhan. Valosin-Containing Protein (VCP)/p97 Oligomerization. Sub-cellular biochemistry. vol 104. 2024-07-04. PMID:38963497. |
pathogenic mutations frequently found at the interface between the ntd domain and d1 atpase domain have been shown to cause malfunction of vcp, leading to degenerative disorders including the inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd), amyotrophic lateral sclerosis (als), and cancers. |
2024-07-04 |
2024-07-10 |
Not clear |
| Macy L Sprunger, Meredith E Jackre. The role of Matrin-3 in physiology and its dysregulation in disease. Biochemical Society transactions. vol 52. issue 3. 2024-06-26. PMID:38813817. |
the dysfunction of many rna-binding proteins (rbps) that are heavily disordered, including tdp-43 and fus, are implicated in amyotrophic lateral sclerosis and frontotemporal dementia (als/ftd). |
2024-06-26 |
2024-06-29 |
Not clear |
| 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 |
| 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 |
| 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 |
| Kyrah M Thumbadoo, Birger V Dieriks, Helen C Murray, Molly E V Swanson, Ji Hun Yoo, Nasim F Mehrabi, Clinton Turner, Michael Dragunow, Richard L M Faull, Maurice A Curtis, Teepu Siddique, Christopher E Shaw, Kathy L Newell, Lyndal Henden, Kelly L Williams, Garth A Nicholson, Emma L Scotte. Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia. Brain : a journal of neurology. 2024-05-04. PMID:38703371. |
hippocampal aggregation signatures of pathogenic ubqln2 in amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-05-04 |
2024-05-07 |
Not clear |