Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
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 |
David Brenner, Kirsten Sieverding, Jahnavi Srinidhi, Susanne Zellner, Christopher Secker, Rüstem Yilmaz, Julia Dyckow, Shady Amr, Anna Ponomarenko, Esra Tunaboylu, Yasmin Douahem, Joana S Schlag, Lucía Rodríguez Martínez, Georg Kislinger, Cornelia Niemann, Karsten Nalbach, Wolfgang P Ruf, Jonathan Uhl, Johanna Hollenbeck, Lucas Schirmer, Alberto Catanese, Christian S Lobsiger, Karin M Danzer, Deniz Yilmazer-Hanke, Christian Münch, Philipp Koch, Axel Freischmidt, Martina Fetting, Christian Behrends, Rosanna Parlato, Jochen H Weishaup. A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice. The Journal of experimental medicine. vol 221. issue 5. 2024-03-22. PMID:38517332. |
heterozygous mutations in the tbk1 gene can cause amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-03-22 |
2024-03-24 |
mouse |
Sheng Chen, Anuradhika Puri, Braxton Bell, Joseph Fritsche, Hector H Palacios, Maurie Balch, Macy L Sprunger, Matthew K Howard, Jeremy J Ryan, Jessica N Haines, Gary J Patti, Albert A Davis, Meredith E Jackre. HTRA1 disaggregates α-synuclein amyloid fibrils and converts them into non-toxic and seeding incompetent species. Nature communications. vol 15. issue 1. 2024-03-19. PMID:38499535. |
here, we report that htra1 inhibits aggregation of α-syn as well as fus and tdp-43, which are implicated in amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2024-03-19 |
2024-03-21 |
Not clear |
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 |
Shoya Fukatsu, Maho Okawa, Miyu Okabe, Mizuka Cho, Mikinori Isogai, Takanori Yokoi, Remina Shirai, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto, Junji Yamauch. Modulating Golgi Stress Signaling Ameliorates Cell Morphological Phenotypes Induced by CHMP2B with Frontotemporal Dementia-Associated p.Asp148Tyr. Current issues in molecular biology. vol 46. issue 2. 2024-02-23. PMID:38392208. |
some charged multivesicular body protein 2b (chmp2b) mutations are associated with autosomal-dominant neurodegenerative frontotemporal dementia and/or amyotrophic lateral sclerosis type 7 (ftdals7). |
2024-02-23 |
2024-02-25 |
rat |
Nemil Bhatt, Nicha Puangmalai, Urmi Sengupta, Cynthia Jerez, Madison Kidd, Shailee Gandhi, Rakez Kaye. C9orf72-associated dipeptide protein repeats form A11-positive oligomers in amyotrophic lateral sclerosis and frontotemporal dementia. The Journal of biological chemistry. vol 300. issue 2. 2024-02-10. PMID:38295729. |
hexanucleotide repeat expansion in c9orf72 is one of the most common causes of amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-02-10 |
2024-02-12 |
Not clear |