| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Bahram Khosravi, Kathrine D LaClair, Henrick Riemenschneider, Qihui Zhou, Frédéric Frottin, Nikola Mareljic, Mareike Czuppa, Daniel Farny, Hannelore Hartmann, Meike Michaelsen, Thomas Arzberger, F Ulrich Hartl, Mark S Hipp, Dieter Edbaue. Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD. The EMBO journal. vol 39. issue 8. 2020-12-14. PMID:32175624. |
the c9orf72 repeat expansion causes amyotrophic lateral sclerosis and frontotemporal dementia, but the poor correlation between c9orf72-specific pathology and tdp-43 pathology linked to neurodegeneration hinders targeted therapeutic development. |
2020-12-14 |
2023-08-13 |
mouse |
| Pin-Tse Lee, Jean-Charles Liévens, Shao-Ming Wang, Jian-Ying Chuang, Bilal Khalil, Hsiang-En Wu, Wen-Chang Chang, Tangui Maurice, Tsung-Ping S. Sigma-1 receptor chaperones rescue nucleocytoplasmic transport deficit seen in cellular and Drosophila ALS/FTD models. Nature communications. vol 11. issue 1. 2020-12-04. PMID:33149115. |
in a subgroup of patients with amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd), the (g4c2)-rna repeat expansion from c9orf72 chromosome binds to the ran-activating protein (rangap) at the nuclear pore, resulting in nucleocytoplasmic transport deficit and accumulation of ran in the cytosol. |
2020-12-04 |
2023-08-13 |
drosophila_melanogaster |
| Alyssa N Coyne, Benjamin L Zaepfel, Lindsey Hayes, Boris Fitchman, Yuval Salzberg, En-Ching Luo, Kelly Bowen, Hannah Trost, Stefan Aigner, Frank Rigo, Gene W Yeo, Amnon Harel, Clive N Svendsen, Dhruv Sareen, Jeffrey D Rothstei. G Neuron. vol 107. issue 6. 2020-11-20. PMID:32673563. |
g through mechanisms that remain poorly defined, defects in nucleocytoplasmic transport and accumulations of specific nuclear-pore-complex-associated proteins have been reported in multiple neurodegenerative diseases, including c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (als/ftd). |
2020-11-20 |
2023-08-13 |
Not clear |
| Joni Vanneste, Thomas Vercruysse, Steven Boeynaems, Adria Sicart, Philip Van Damme, Dirk Daelemans, Ludo Van Den Bosc. C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport. Scientific reports. vol 9. issue 1. 2020-11-03. PMID:31673013. |
repeat expansions in the c9orf72 gene cause amyotrophic lateral sclerosis and frontotemporal dementia characterized by dipeptide-repeat protein (dpr) inclusions. |
2020-11-03 |
2023-08-13 |
Not clear |
| Veronica Porterfield, Shahzad S Khan, Erin P Foff, Mehmet Murat Koseoglu, Isabella K Blanco, Sruthi Jayaraman, Eric Lien, Michael J McConnell, George S Bloom, John S Lazo, Elizabeth R Sharlo. A three-dimensional dementia model reveals spontaneous cell cycle re-entry and a senescence-associated secretory phenotype. Neurobiology of aging. vol 90. 2020-10-29. PMID:32184029. |
a hexanucleotide repeat expansion on chromosome 9 open reading frame 72 (c9orf72) is associated with familial amyotrophic lateral sclerosis (als) and a subpopulation of patients with sporadic als and frontotemporal dementia. |
2020-10-29 |
2023-08-13 |
Not clear |
| Manon Boivin, Véronique Pfister, Angeline Gaucherot, Frank Ruffenach, Luc Negroni, Chantal Sellier, Nicolas Charlet-Bergueran. Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders. The EMBO journal. vol 39. issue 4. 2020-10-28. PMID:31930538. |
expansion of g4c2 repeats within the c9orf72 gene is the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-10-28 |
2023-08-13 |
Not clear |
| Zachary T McEachin, Tania F Gendron, Nisha Raj, María García-Murias, Anwesha Banerjee, Ryan H Purcell, Patricia J Ward, Tiffany W Todd, Megan E Merritt-Garza, Karen Jansen-West, Chadwick M Hales, Tania García-Sobrino, Beatriz Quintáns, Christopher J Holler, Georgia Taylor, Beatriz San Millán, Susana Teijeira, Toru Yamashita, Ryuichi Ohkubo, Nicholas M Boulis, Chongchong Xu, Zhexing Wen, Nathalie Streichenberger, Brent L Fogel, Thomas Kukar, Koji Abe, Dennis W Dickson, Manuel Arias, Jonathan D Glass, Jie Jiang, Malú G Tansey, María-Jesús Sobrido, Leonard Petrucelli, Wilfried Rossoll, Gary J Bassel. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. Neuron. vol 107. issue 2. 2020-10-19. PMID:32375063. |
ggggcc hexanucleotide repeat expansions (hres) in c9orf72 cause amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) and lead to the production of aggregating dipeptide repeat proteins (dprs) via repeat associated non-aug (ran) translation. |
2020-10-19 |
2023-08-13 |
Not clear |
| Alan S Premasiri, Anna L Gill, Fernando G Vieir. Type I PRMT Inhibition Protects Against C9ORF72 Arginine-Rich Dipeptide Repeat Toxicity. Frontiers in pharmacology. vol 11. 2020-10-06. PMID:33013410. |
repeat expansion mutations in the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-10-06 |
2023-08-13 |
Not clear |
| Mauricio Budini, Emanuele Buratti, Eugenia Morselli, Alfredo Crioll. Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72. Frontiers in molecular neuroscience. vol 10. 2020-10-01. PMID:28611593. |
the proteins tar dna-binding protein-43 (tdp-43), which regulates rna processing at different levels, and chromosome 9 open reading frame 72 (c9orf72), probably involved in membrane trafficking, are crucial in the development of neurodegenerative diseases such as amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration (ftld). |
2020-10-01 |
2023-08-13 |
Not clear |
| Monica Consonni, Eleonora Dalla Bella, Anna Nigri, Chiara Pinardi, Greta Demichelis, Luca Porcu, Cinzia Gellera, Viviana Pensato, Stefano F Cappa, Maria Grazia Bruzzone, Giuseppe Lauria, Stefania Ferrar. Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis. Frontiers in neuroscience. vol 13. 2020-10-01. PMID:31133784. |
cognitive syndromes and c9orf72 mutation are not related to cerebellar degeneration in amyotrophic lateral sclerosis. |
2020-10-01 |
2023-08-13 |
Not clear |
| Mona Radwan, Jordan D Lilley, Ching-Seng Ang, Gavin E Reid, Danny M Hatter. Immiscible inclusion bodies formed by polyglutamine and poly(glycine-alanine) are enriched with distinct proteomes but converge in proteins that are risk factors for disease and involved in protein degradation. PloS one. vol 15. issue 8. 2020-10-01. PMID:32857759. |
poly(glycine-alanine) (polyga) is one of the polydipeptides expressed in frontotemporal dementia and/or amyotrophic lateral sclerosis 1 caused by c9orf72 mutations and accumulates as inclusion bodies in the brain of patients. |
2020-10-01 |
2023-08-13 |
Not clear |
| Xin Wang, Limin Hao, Taixiang Saur, Katelyn Joyal, Ying Zhao, Desheng Zhai, Jie Li, Mochtar Pribadi, Giovanni Coppola, Bruce M Cohen, Edgar A Buttne. Forward Genetic Screen in Frontiers in molecular neuroscience. vol 9. 2020-09-30. PMID:27877110. |
forward genetic screen in an abnormally expanded ggggcc repeat in c9orf72 is the most frequent causal mutation associated with amyotrophic lateral sclerosis (als)/frontotemporal lobar degeneration (ftld). |
2020-09-30 |
2023-08-13 |
Not clear |
| Sali M K Farhan, Tania F Gendron, Leonard Petrucelli, Robert A Hegele, Michael J Stron. ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion. Neurology. Genetics. vol 3. issue 5. 2020-09-30. PMID:28971145. |
arhgef28 p.lys280metfs40ter in an amyotrophic lateral sclerosis family with a c9orf72 expansion. |
2020-09-30 |
2023-08-13 |
Not clear |
| Antonio Canosa, Maurizio Grassano, Marco Barberis, Maura Brunetti, Umberto Manera, Rosario Vasta, Stefania Cammarosano, Giovanni De Marco, Andrea Calvo, Adriano Chiò, Cristina Mogli. A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 75. 2020-09-29. PMID:32223976. |
about 10% of amyotrophic lateral sclerosis (als) cases are familial (fals), mainly related to mutations in c9orf72, sod1, tardbp, and fus genes. |
2020-09-29 |
2023-08-13 |
human |
| Raygene Martier, Jolanda M Liefhebber, Ana García-Osta, Jana Miniarikova, Mar Cuadrado-Tejedor, Maria Espelosin, Susana Ursua, Harald Petry, Sander J van Deventer, Melvin M Evers, Pavlina Konstantinov. Targeting RNA-Mediated Toxicity in C9orf72 ALS and/or FTD by RNAi-Based Gene Therapy. Molecular therapy. Nucleic acids. vol 16. 2020-09-28. PMID:30825670. |
a hexanucleotide ggggcc expansion in intron 1 of chromosome 9 open reading frame 72 (c9orf72) gene is the most frequent cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-09-28 |
2023-08-13 |
mouse |
| James Rooney, Deirdre Murray, Anna Campion, Hannah Moloney, Rachel Tattersall, Mark Doherty, Michaela Hammond, Mark Heverin, Russell McLaughlin, Orla Hardima. The C9orf72 expansion is associated with accelerated respiratory function decline in a large Amyotrophic Lateral Sclerosis cohort. HRB open research. vol 2. 2020-09-28. PMID:32296747. |
the c9orf72 expansion is associated with accelerated respiratory function decline in a large amyotrophic lateral sclerosis cohort. |
2020-09-28 |
2023-08-13 |
Not clear |
| Florence Esselin, Kevin Mouzat, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Elisa De la Cruz, Emilien Bernard, Emmeline Lagrange, Véronique Danel, Sébastien Alphandery, Laura Labar, Erika Nogué, Marie-Christine Picot, Serge Lumbroso, William Cam. Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort. Frontiers in neuroscience. vol 14. 2020-09-28. PMID:32410933. |
in familial amyotrophic lateral sclerosis (als) cases, the presence of an abnormal c9orf72 repeat expansion (c9re) is the most frequent genetic cause identified. |
2020-09-28 |
2023-08-13 |
Not clear |
| Javier Morón-Oset, Tessa Supèr, Jacqueline Esser, Adrian M Isaacs, Sebastian Grönke, Linda Partridg. Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain. Acta neuropathologica communications. vol 7. issue 1. 2020-09-25. PMID:31843021. |
hexanucleotide repeat expansions of variable size in c9orf72 are the most prevalent genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2020-09-25 |
2023-08-13 |
Not clear |
| Uzma Shamim, Sakshi Ambawat, Jyotsna Singh, Aneesa Thomas, Chevula Pradeep-Chandra-Reddy, Varun Suroliya, Bharathram Uppilli, Shaista Parveen, Pooja Sharma, Shankar Chanchal, Saraswati Nashi, Veeramani Preethish-Kumar, Seena Vengalil, Kiran Polavarapu, Muddasu Keerthipriya, Niranjan Prakash Mahajan, Neeraja Reddy, Priya Treesa Thomas, Arun Sadasivan, Manjusha Warrier, Malika Seth, Sana Zahra, Aradhana Mathur, Deepti Vibha, Achal K Srivastava, Atchayaram Nalini, Mohammed Faru. C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection. Neurobiology of aging. vol 88. 2020-09-23. PMID:32035847. |
hexanucleotide repeat expansion in c9orf72 is defined as a major causative factor for familial amyotrophic lateral sclerosis (als). |
2020-09-23 |
2023-08-13 |
Not clear |
| Jesse D Lai, Justin K Ichid. C9ORF72 protein function and immune dysregulation in amyotrophic lateral sclerosis. Neuroscience letters. vol 713. 2020-09-21. PMID:31568865. |
c9orf72 protein function and immune dysregulation in amyotrophic lateral sclerosis. |
2020-09-21 |
2023-08-13 |
Not clear |