| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Evan Udine, Mariely DeJesus-Hernandez, Shulan Tian, Sofia Pereira das Neves, Richard Crook, NiCole A Finch, Matthew C Baker, Cyril Pottier, Neill R Graff-Radford, Bradley F Boeve, Ronald C Petersen, David S Knopman, Keith A Josephs, Björn Oskarsson, Sandro Da Mesquita, Leonard Petrucelli, Tania F Gendron, Dennis W Dickson, Rosa Rademakers, Marka van Blitterswij. Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion. Acta neuropathologica. vol 147. issue 1. 2024-04-19. PMID:38641715. |
the most prominent genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration (ftld) is a repeat expansion in the gene c9orf72. |
2024-04-19 |
2024-04-22 |
human |
| Dalit Barel, Daphna Marom, Penina Ponger, Alina Kurolap, Anat Bar-Shira, Idit Kaplan-Ber, Adi Mory, Beatrice Abramovich, Yuval Yaron, Vivian Drory, Hagit Baris Feldma. Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis. Journal of neurology. 2024-04-16. PMID:38625400. |
genetic diagnosis and detection rates using c9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis. |
2024-04-16 |
2024-04-18 |
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 |
| C Sellier, P Corcia, P Vourc'h, L Dupui. C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role? Revue neurologique. 2024-04-12. PMID:38609750. |
the major gene underlying monogenic forms of amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd) is c9orf72. |
2024-04-12 |
2024-04-15 |
Not clear |
| Suma Babu, Katharine A Nicholson, Jeffrey D Rothstein, Andrea Swenson, Paul J Sampognaro, Pravin Pant, Eric A Macklin, Susan Spruill, Sabrina Paganoni, Tania F Gendron, Mercedes Prudencio, Leonard Petrucelli, Darrell Nix, Sean Landrette, Esther Nkrumah, Keith Fandrick, Joan Edwards, Peter R Youn. Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial. Brain : a journal of neurology. 2024-04-12. PMID:38606777. |
apilimod dimesylate in c9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial. |
2024-04-12 |
2024-04-14 |
human |
| Suma Babu, Katharine A Nicholson, Jeffrey D Rothstein, Andrea Swenson, Paul J Sampognaro, Pravin Pant, Eric A Macklin, Susan Spruill, Sabrina Paganoni, Tania F Gendron, Mercedes Prudencio, Leonard Petrucelli, Darrell Nix, Sean Landrette, Esther Nkrumah, Keith Fandrick, Joan Edwards, Peter R Youn. Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial. Brain : a journal of neurology. 2024-04-12. PMID:38606777. |
apilimod dimesylate is a first-in-class phosphoinositide kinase, fyve-type zinc finger containing (pikfyve) inhibitor with favourable clinical safety profile and has demonstrated activity in preclinical c9orf72 and tdp-43 amyotrophic lateral sclerosis models. |
2024-04-12 |
2024-04-14 |
human |
| 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 |
| b' Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Maurizio Grassano, Margherita Daviddi, Filippo De Mattei, Enrico Matteoni, Salvatore Gallone, Maura Brunetti, Luca Sbaiz, Sara Cabras, Laura Peotta, Francesca Palumbo, Barbara Iazzolino, Gabriele Mora, Adriano Chi\\xc3\\xb. High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants. Annals of neurology. 2024-04-03. PMID:38568044.' |
while the cognitive-behavioral characteristics of amyotrophic lateral sclerosis (als) patients carrying c9orf72 pathological repeat expansion have been extensively studied, our understanding of those carrying sod1 variants is mostly based on case reports. |
2024-04-03 |
2024-04-05 |
Not clear |
| 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 |
| Anna Nigri, Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean Paul Medina Carrion, Sara Palermo, Laura Lequio, Federica Denegri, Federica Agosta, Edoardo Gioele Spinelli, Massimo Filippi, Marina Grisoli, Maria Consuelo Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Adriano Chiò, Maria Grazia Bruzzone, Cristina Mogli. Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers. European journal of neurology. 2024-03-12. PMID:38469975. |
distinct neural signatures of pulvinar in c9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers. |
2024-03-12 |
2024-03-14 |
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. |
neuromuscular organoids model spinal neuromuscular pathologies in c9orf72 amyotrophic lateral sclerosis. |
2024-03-03 |
2024-03-06 |
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 |
| Carmelo Milioto, Mireia Carcolé, Ashling Giblin, Rachel Coneys, Olivia Attrebi, Mhoriam Ahmed, Samuel S Harris, Byung Il Lee, Mengke Yang, Robert A Ellingford, Raja S Nirujogi, Daniel Biggs, Sally Salomonsson, Matteo Zanovello, Paula de Oliveira, Eszter Katona, Idoia Glaria, Alla Mikheenko, Bethany Geary, Evan Udine, Deniz Vaizoglu, Sharifah Anoar, Khrisha Jotangiya, Gerard Crowley, Demelza M Smeeth, Mirjam L Adams, Teresa Niccoli, Rosa Rademakers, Marka van Blitterswijk, Anny Devoy, Soyon Hong, Linda Partridge, Alyssa N Coyne, Pietro Fratta, Dario R Alessi, Ben Davies, Marc Aurel Busche, Linda Greensmith, Elizabeth M C Fisher, Adrian M Isaac. PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons. Nature neuroscience. 2024-02-29. PMID:38424324. |
dipeptide repeat proteins are a major pathogenic feature of c9orf72 amyotrophic lateral sclerosis (c9als)/frontotemporal dementia (ftd) pathology, but their physiological impact has yet to be fully determined. |
2024-02-29 |
2024-03-03 |
mouse |
| 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 |
| 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 |
| Shiho Gotoh, Kohji Mori, Yuzo Fujino, Yuya Kawabe, Tomoko Yamashita, Tsubasa Omi, Kenichi Nagata, Shinji Tagami, Yoshitaka Nagai, Manabu Iked. eIF5 stimulates the CUG initiation of RAN translation of poly-GA dipeptide repeat protein (DPR) in C9orf72 FTLD/ALS. The Journal of biological chemistry. 2024-02-01. PMID:38301895. |
tandem ggggcc repeat expansion in c9orf72 is a genetic cause of frontotemporal lobar degeneration (ftld) and amyotrophic lateral sclerosis (als). |
2024-02-01 |
2024-02-04 |
drosophila_melanogaster |
| Zsófia Flóra Nagy, Margit Pál, József I Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Szél. Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations. BMC medical genomics. vol 17. issue 1. 2024-01-23. PMID:38254109. |
beyond c9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations. |
2024-01-23 |
2024-01-25 |
Not clear |
| Paulien H Smeele, Giuliana Cesare, Thomas Vaccar. ALS' Perfect Storm: Cells. vol 13. issue 2. 2024-01-22. PMID:38247869. |
alterations in these processes have been widely reported among studies investigating the toxic function of dipeptide repeats (dprs) produced by g4c2 expansion in the c9orf72 gene of patients with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-01-22 |
2024-01-24 |
Not clear |
| Osma S Rautila, Karri Kaivola, Harri Rautila, Laura Hokkanen, Jyrki Launes, Timo E Strandberg, Hannu Laaksovirta, Johanna Palmio, Pentti J Tienar. The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK. American journal of human genetics. 2024-01-19. PMID:38242117. |
the c9orf72 hexanucleotide repeat expansion (hre) is a common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-01-19 |
2024-01-22 |
human |