| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Bin Xu, Xia Lei, Ying Yang, Jiayi Yu, Jun Chen, Zhi Xu, Keqiang Ye, Jing Zhan. Peripheral proteinopathy in neurodegenerative diseases. Translational neurodegeneration. vol 14. issue 1. 2025-01-17. PMID:39819742. |
proteinopathies in neurology typically refer to pathological changes in proteins associated with neurological diseases, such as the aggregation of amyloid β and tau in alzheimer's disease, α-synuclein in parkinson's disease and multiple system atrophy, and tar dna-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal dementia. |
2025-01-17 |
2025-01-20 |
Not clear |
| Maria Elena Cicardi, Davide Trott. C9orf72 role in myeloid cells: new perspectives in the investigation of the neuro-immune crosstalk in amyotrophic lateral sclerosis and frontotemporal dementia. Annals of translational medicine. vol 12. issue 6. 2025-01-16. PMID:39817235. |
c9orf72 role in myeloid cells: new perspectives in the investigation of the neuro-immune crosstalk in amyotrophic lateral sclerosis and frontotemporal dementia. |
2025-01-16 |
2025-01-19 |
Not clear |
| Nadeen Akaree, Valentina Secco, Flonia Levy-Adam, Amal Younis, Serena Carra, Reut Shalg. Regulation of physiological and pathological condensates by molecular chaperones. The FEBS journal. 2025-01-05. PMID:39756021. |
interestingly, sgs contain several aggregation-prone proteins, such as tdp-43, fus, hnrnpa1, and others, which are typically found in pathological inclusions seen in autopsy tissues from amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) patients. |
2025-01-05 |
2025-01-08 |
Not clear |
| Murat Gultekin, Ayse NazlI Basa. Clinical Manifestations. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 20 Suppl 3. 2025-01-03. PMID:39750589. |
valosin containing protein (vcp) mutations are responsible some genetic etiologies of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2025-01-03 |
2025-01-05 |
Not clear |
| Evangelos Koumasopoulos, Evangelia Stanitsa, Efthalia Angelopoulou, Christos Koros, Vasiliki Barbarousi, Georgios Velonakis, Chrysoula Michaletou, Savvas Konstantinos Alevetsovitis, Vasilios C Constantinides, Andreas Kyrozis, Leonidas Stefanis, Christos Kroupis, Sokratis G Papageorgio. Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report. Neurocase. 2024-12-25. PMID:39719859. |
mutations in sequestosome 1 (sqstm1) gene have been associated with frontotemporal dementia (ftd), amyotrophic lateral sclerosis (als), frontotemporal dementia - als (ftd-als), and very recently, progressive supranuclear palsy (psp), paget disease of bone (pdb), distal myopathy with rimmed vacuoles (dmrv), and neurodegenerative disorders in childhood. |
2024-12-25 |
2024-12-27 |
Not clear |
| Laura Huggon, Emma L Clayto. Beginning from the end: the presynaptic terminal as a pathomechanism hub in frontotemporal dementia and amyotrophic lateral sclerosis. Neural regeneration research. vol 20. issue 11. 2024-12-23. PMID:39715090. |
beginning from the end: the presynaptic terminal as a pathomechanism hub in frontotemporal dementia and amyotrophic lateral sclerosis. |
2024-12-23 |
2024-12-26 |
Not clear |
| Evan Udine, NiCole A Finch, Mariely DeJesus-Hernandez, Jazmyne L Jackson, Matthew C Baker, Siva Arumugam Saravanaperumal, Eric Wieben, Mark T W Ebbert, Jaimin Shah, Leonard Petrucelli, Rosa Rademakers, Björn Oskarsson, Marka van Blitterswij. Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion. Molecular neurodegeneration. vol 19. issue 1. 2024-12-21. PMID:39709476. |
the gene c9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-12-21 |
2024-12-24 |
Not clear |
| Xinrui Zhao, Shenglin Huan. Plasma extracellular vesicle: a novel biomarker for neurodegenerative disease diagnosis. Extracellular vesicles and circulating nucleic acids. vol 5. issue 3. 2024-12-19. PMID:39697625. |
this study explores using tau and tdp-43 proteins in plasma evs as diagnostic biomarkers for frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2024-12-19 |
2024-12-21 |
Not clear |
| Luisa D'Anna, Darren Wragg, Daniela Mauro, Simona Rubino, Alessio Terenzi, Giampaolo Barone, Sophie Thomas, Angela Casini, Riccardo Bonsignore, Angelo Spinell. Unraveling the molecular basis for G-quadruplex-binders to ALS/FTD-associated G4C2 repeats of the C9orf72 gene. Chembiochem : a European journal of chemical biology. 2024-12-13. PMID:39670345. |
the most recurrent familial cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is the presence of an abnormal number of intronic ggggcc (g4c2) repetitions in the c9orf72 gene, which has been proposed to drive als/ftd pathogenesis. |
2024-12-13 |
2024-12-22 |
Not clear |
| Milan Zimmermann, David Mengel, Katrin Raupach, Tobias Haack, Manuela Neumann, Matthis Synofzi. Frequency and neuropathology of HTT repeat expansions in FTD/ALS: co-existence rather than causation. Journal of neurology. vol 272. issue 1. 2024-12-12. PMID:39666103. |
while ≥ 40 cag repeat expansions in htt present a well-established cause of huntington's disease (hd), an enrichment of htt repeat expansions was recently reported also in patients with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), including ftd/als patients with additional hd neuropathology. |
2024-12-12 |
2024-12-14 |
Not clear |
| Benjamin E Clarke, Oliver J Ziff, Giulia Tyzack, Marija Petrić Howe, Yiran Wang, Pierre Klein, Claudia A Smith, Cameron A Hall, Adel Helmy, Michael Howell, Gavin Kelly, Rickie Patan. Human VCP mutant ALS/FTD microglia display immune and lysosomal phenotypes independently of GPNMB. Molecular neurodegeneration. vol 19. issue 1. 2024-11-27. PMID:39593143. |
microglia play crucial roles in maintaining neuronal homeostasis but have been implicated in contributing to amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-11-27 |
2024-11-29 |
human |
| Félicie Lorenc, Luc Dupuis, Raphaelle Casse. Impairments of inhibitory neurons in amyotrophic lateral sclerosis and frontotemporal dementia. Neurobiology of disease. 2024-11-26. PMID:39592063. |
we assess the evidence for inhibitory neuron impairments in amyotrophic lateral sclerosis and frontotemporal dementia, as well as the mechanisms leading to the loss of inhibition. |
2024-11-26 |
2024-11-29 |
Not clear |
| Elizabeth R Dellar, Iolanda Vendrell, Benazir Amein, David G Lester, Evan C Edmond, Katie Yoganathan, Thanuja Dharmadasa, Aitana Sogorb-Esteve, Roman Fischer, Kevin Talbot, Jonathan D Rohrer, Martin R Turner, Alexander G Thompso. Elevated Cerebrospinal Fluid Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L1 in Asymptomatic C9orf72 Hexanucleotide Repeat Expansion Carriers. Annals of neurology. 2024-11-16. PMID:39548852. |
to identify biochemical changes in individuals at higher risk of developing amyotrophic lateral sclerosis (als) or frontotemporal dementia (ftd) via c9orf72 hexanucleotide repeat expansion (hre) heterozygosity. |
2024-11-16 |
2024-11-20 |
Not clear |
| Kevin van Veenhuijzen, Harold H G Tan, Abram D Nitert, Michael A van Es, Jan H Veldink, Leonard H van den Berg, Henk-Jan Westenen. Longitudinal Magnetic Resonance Imaging in Asymptomatic C9orf72 Mutation Carriers Distinguishes Phenoconverters to Amyotrophic Lateral Sclerosis or Amyotrophic Lateral Sclerosis With Frontotemporal Dementia. Annals of neurology. 2024-11-02. PMID:39487710. |
longitudinal magnetic resonance imaging in asymptomatic c9orf72 mutation carriers distinguishes phenoconverters to amyotrophic lateral sclerosis or amyotrophic lateral sclerosis with frontotemporal dementia. |
2024-11-02 |
2024-11-05 |
Not clear |
| Kevin van Veenhuijzen, Harold H G Tan, Abram D Nitert, Michael A van Es, Jan H Veldink, Leonard H van den Berg, Henk-Jan Westenen. Longitudinal Magnetic Resonance Imaging in Asymptomatic C9orf72 Mutation Carriers Distinguishes Phenoconverters to Amyotrophic Lateral Sclerosis or Amyotrophic Lateral Sclerosis With Frontotemporal Dementia. Annals of neurology. 2024-11-02. PMID:39487710. |
we prospectively studied asymptomatic c9orf72 mutation carriers, identifying those developing amyotrophic lateral sclerosis (als) or frontotemporal dementia (ftd). |
2024-11-02 |
2024-11-05 |
Not clear |
| Yan Zhang, Ning Xu, Chunyu Yan, Xuelian Zhou, Qinglong Qiao, Lu Miao, Zhaochao X. Live-Cell Imaging to Resolve Salt-Induced Liquid-Liquid Phase Separation of FUS Protein by Dye Self-Labeling. Chemical & biomedical imaging. vol 2. issue 1. 2024-10-30. PMID:39473462. |
the aggregation of fusion in sarcoma (fus) in the cytoplasm and nucleus is a pathological feature of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-10-30 |
2024-11-02 |
Not clear |
| Kang-Fu Yin, Ting Chen, Xiao-Jing Gu, Zheng Jiang, Wei-Ming Su, Qing-Qing Duan, Xiang-Jin Wen, Bei Cao, Ju-Rong Li, Li-Yi Chi, Yong-Ping Che. Identification of Potential Causal Genes for Neurodegenerative Diseases by Mitochondria-Related Genome-Wide Mendelian Randomization. Molecular neurobiology. 2024-09-30. PMID:39347895. |
through the integration of summary statistics from expression quantitative trait loci (eqtl) datasets (human blood and brain tissue), mitochondrial dna copy number (mtdna-cn), and genome-wide association studies (gwas) datasets of five ndds from european ancestry, we conducted a mendelian randomization (mr) analysis to explore the potential causal relationship between mitochondrial-related genes and alzheimer's disease (ad), parkinson's disease (pd), amyotrophic lateral sclerosis (als), frontotemporal dementia (ftd), and lewy body dementia (lbd). |
2024-09-30 |
2024-10-02 |
human |
| Astrid T van der Geest, Channa E Jakobs, Tijana Ljubikj, Christiaan F M Huffels, Marta Cañizares Luna, Renata Vieira de Sá, Youri Adolfs, Marina de Wit, Daan H Rutten, Marthe Kaal, Maria M Zwartkruis, Mireia Carcolé, Ewout J N Groen, Elly M Hol, Onur Basak, Adrian M Isaacs, Henk-Jan Westeneng, Leonard H van den Berg, Jan H Veldink, Domino K Schlegel, R Jeroen Pasterkam. Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids. Acta neuropathologica communications. vol 12. issue 1. 2024-09-18. PMID:39289761. |
a hexanucleotide repeat expansion (hre) in c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-09-18 |
2024-09-20 |
human |
| Honghe Liu, Xiao-Feng Zhao, Yu-Ning Lu, Lindsey R Hayes, Jiou Wan. CRISPR-Cas13d targeting suppresses repeat-associated non-AUG translation of C9orf72 hexanucleotide repeat RNA. The Journal of clinical investigation. 2024-09-17. PMID:39288267. |
a hexanucleotide ggggcc repeat expansion in the non-coding region of c9orf72 gene is the most common genetic mutation identified in patients with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-09-17 |
2024-09-20 |
mouse |
| Virginie Petel Légaré, Ziyaan A Harji, Christian J Rampal, Hana Antonicka, Tyler J N Gurberg, Olivia Persia, Esteban C Rodríguez, E A Shoubridge, Gary A B Armstron. CHCHD10 Experimental neurology. 2024-09-11. PMID:39260590. |
chchd10 mutations in the nuclear-encoded mitochondrial gene chchd10 have been observed in patients with a spectrum of diseases that include amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-09-11 |
2024-09-14 |
zebrafish |