| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
pathogenic variants in the ubqln2 gene cause x-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia characterised by ubiquilin 2 aggregates in neurons of the motor cortex, hippocampus, and spinal cord. |
2024-05-04 |
2024-05-07 |
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. |
using multiplexed (5-label) fluorescent immunohistochemistry, we mapped the co-localisation of ubiquilin 2 with phosphorylated tdp-43, dipeptide repeat aggregates, and p62, in the hippocampus of controls (n = 6), or amyotrophic lateral sclerosis with or without frontotemporal dementia in sporadic (n = 20), unknown familial (n = 3), sod1-linked (n = 1), fus-linked (n = 1), c9orf72-linked (n = 5), and ubqln2-linked (n = 8) cases. |
2024-05-04 |
2024-05-07 |
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. |
overall, we describe a hippocampal protein aggregation signature that fully distinguishes mutant from wildtype ubiquilin 2 in amyotrophic lateral sclerosis with or without frontotemporal dementia, whereby mutant ubiquilin 2 is more prone than wildtype to aggregate independently of driving factors. |
2024-05-04 |
2024-05-07 |
Not clear |
| Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub-Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpi, Hakan Ceti. Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation. Annals of clinical and translational neurology. 2024-05-01. PMID:38689506. |
mutations in the gene encoding for optineurin (optn) have been reported in the context of different neurodegenerative diseases including the amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) spectrum. |
2024-05-01 |
2024-05-03 |
Not clear |
| Francesca W van Tartwijk, Lucia C S Wunderlich, Ioanna Mela, Stanislaw Makarchuk, Maximilian A H Jakobs, Seema Qamar, Kristian Franze, Gabriele S Kaminski Schierle, Peter H St George-Hyslop, Julie Qiaojin Lin, Christine E Holt, Clemens F Kaminsk. Mutation of the ALS/FTD-associated RNA-binding protein FUS affects axonal development. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2024-05-01. PMID:38692734. |
aberrant condensation and localisation of the rna-binding protein (rbp) fused in sarcoma (fus) occur in variants of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-05-01 |
2024-05-04 |
Not clear |
| Sana Mohammadi, Sadegh Ghaderi, Mahdi Mohammadi, Zahra Najafi Asli Pashaki, Rahim Khatyal, Fatemeh Mohammadian, Sahar Mohammadjan. Thalamic Alterations in Motor Neuron Diseases: A Systematic Review of MRI Findings. Journal of integrative neuroscience. vol 23. issue 4. 2024-04-29. PMID:38682227. |
the involvement of the thalamus in mnds, especially in conditions such as amyotrophic lateral sclerosis (als), and its interaction with frontotemporal dementia (ftd), has garnered increasing research interest. |
2024-04-29 |
2024-05-01 |
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 |
| Emmanuelle C Genin, Pauline Pozzo di Borgo, Thomas Lorivel, Sandrine Hugues, Mélissa Farinelli, Alessandra Mauri-Crouzet, Françoise Lespinasse, Lucas Godin, Véronique Paquis-Flucklinger, Agnès Petit-Paite. CHCHD10 Neurobiology of disease. 2024-04-07. PMID:38583639. |
chchd10 chchd10-related disease causes a spectrum of clinical presentations including mitochondrial myopathy, cardiomyopathy, amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-04-07 |
2024-04-10 |
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 |