| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Nausicaa V Licata, Riccardo Cristofani, Sally Salomonsson, Katherine M Wilson, Liam Kempthorne, Deniz Vaizoglu, Vito G D'Agostino, Daniele Pollini, Rosa Loffredo, Michael Pancher, Valentina Adami, Paola Bellosta, Antonia Ratti, Gabriella Viero, Alessandro Quattrone, Adrian M Isaacs, Angelo Poletti, Alessandro Provenzan. C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation. The EMBO journal. 2021-11-18. PMID:34791698. |
intronic ggggcc (g4c2) hexanucleotide repeat expansion within the human c9orf72 gene represents the most common cause of familial forms of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) (c9als/ftd). |
2021-11-18 |
2023-08-13 |
human |
| Vijay Kuma. Molecular interactions between C9ORF72 and SMCR8: A local energetic frustration perspective. Biochemical and biophysical research communications. vol 570. 2021-11-17. PMID:34256240. |
the hexanucleotide repeat expansion in c9orf72 represents a major cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-11-17 |
2023-08-13 |
Not clear |
| Hiroaki Suzuki, Masaaki Matsuok. Proline-arginine poly-dipeptide encoded by the C9orf72 repeat expansion inhibits adenosine deaminase acting on RNA. Journal of neurochemistry. vol 158. issue 3. 2021-11-16. PMID:34081786. |
a ggggcc hexanucleotide repeat expansion in the c9orf72 gene is linked to the pathogenesis of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) (c9-als/ftd). |
2021-11-16 |
2023-08-13 |
Not clear |
| Tao Wang, Honghe Liu, Kie Itoh, Sungtaek Oh, Liang Zhao, Daisuke Murata, Hiromi Sesaki, Thomas Hartung, Chan Hyun Na, Jiou Wan. C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly. Cell metabolism. vol 33. issue 3. 2021-11-12. PMID:33545050. |
the haploinsufficiency of c9orf72 is implicated in the most common forms of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), but the full spectrum of c9orf72 functions remains to be established. |
2021-11-12 |
2023-08-13 |
Not clear |
| Yoshifumi Sonobe, Jihad Aburas, Gopinath Krishnan, Andrew C Fleming, Ghanashyam Ghadge, Priota Islam, Eleanor C Warren, Yuanzheng Gu, Mark W Kankel, André E X Brown, Evangelos Kiskinis, Tania F Gendron, Fen-Biao Gao, Raymond P Roos, Paschalis Kratsio. A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation. Nature communications. vol 12. issue 1. 2021-11-12. PMID:34654821. |
a hexanucleotide repeat expansion ggggcc in the non-coding region of c9orf72 is the most common cause of inherited amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-11-12 |
2023-08-13 |
caenorhabditis_elegans |
| Nandini Ramesh, Elizabeth L Daley, Amanda M Gleixner, Jacob R Mann, Sukhleen Kour, Darilang Mawrie, Eric N Anderson, Julia Kofler, Christopher J Donnelly, Evangelos Kiskinis, Udai Bhan Pande. RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3. Acta neuropathologica communications. vol 8. issue 1. 2021-11-10. PMID:33129345. |
the most common genetic cause of amyotrophic lateral sclerosis (als) is a ggggcc (g4c2) hexanucleotide repeat expansions in first intron of the c9orf72 gene. |
2021-11-10 |
2023-08-13 |
human |
| Annelies Quaegebeur, Idoia Glaria, Tammaryn Lashley, Adrian M Isaac. Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity. Acta neuropathologica communications. vol 8. issue 1. 2021-11-10. PMID:33168090. |
a c9orf72 repeat expansion is the most common genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis. |
2021-11-10 |
2023-08-13 |
human |
| Karri Kaivola, Samuli J Salmi, Lilja Jansson, Jyrki Launes, Laura Hokkanen, Anna-Kaisa Niemi, Kari Majamaa, Jari Lahti, Johan G Eriksson, Timo Strandberg, Hannu Laaksovirta, Pentti J Tienar. Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population. Acta neuropathologica communications. vol 8. issue 1. 2021-11-09. PMID:33168078. |
the hexanucleotide repeat expansion in intron 1 of the c9orf72 gene causes amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2021-11-09 |
2023-08-13 |
Not clear |
| Julia Nörpel, Simone Cavadini, Andreas D Schenk, Alexandra Graff-Meyer, Daniel Hess, Jan Seebacher, Jeffrey A Chao, Varun Bhaska. Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture. PLoS biology. vol 19. issue 7. 2021-11-08. PMID:34297726. |
a major cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) spectrum disorder is the hexanucleotide g4c2 repeat expansion in the first intron of the c9orf72 gene. |
2021-11-08 |
2023-08-13 |
human |
| Emma M Perkins, Karen Burr, Poulomi Banerjee, Arpan R Mehta, Owen Dando, Bhuvaneish T Selvaraj, Daumante Suminaite, Jyoti Nanda, Christopher M Henstridge, Thomas H Gillingwater, Giles E Hardingham, David J A Wyllie, Siddharthan Chandran, Matthew R Livese. Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction. Molecular neurodegeneration. vol 16. issue 1. 2021-11-05. PMID:33663561. |
physiological disturbances in cortical network excitability and plasticity are established and widespread in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) patients, including those harbouring the c9orf72 repeat expansion (c9orf72 |
2021-11-05 |
2023-08-13 |
Not clear |
| Salome Azoulay-Ginsburg, Michela Di Salvio, Michal Weitman, Michal Afri, Sara Ribeiro, Simon Ebbinghaus, Gianluca Cestra, Arie Gruzma. Chemical chaperones targeted to the endoplasmic reticulum (ER) and lysosome prevented neurodegeneration in a C9orf72 repeat expansion drosophila amyotrophic lateral sclerosis (ALS) model. Pharmacological reports : PR. vol 73. issue 2. 2021-11-02. PMID:33661518. |
chemical chaperones targeted to the endoplasmic reticulum (er) and lysosome prevented neurodegeneration in a c9orf72 repeat expansion drosophila amyotrophic lateral sclerosis (als) model. |
2021-11-02 |
2023-08-13 |
drosophila_melanogaster |
| Carolyn A Brown, Cathy Lally, Varant Kupelian, W Dana Flander. Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants. Neuroepidemiology. vol 55. issue 5. 2021-10-28. PMID:34247168. |
estimated prevalence and incidence of amyotrophic lateral sclerosis and sod1 and c9orf72 genetic variants. |
2021-10-28 |
2023-08-13 |
Not clear |
| Arpan R Mehta, Jenna M Gregory, Owen Dando, Roderick N Carter, Karen Burr, Jyoti Nanda, David Story, Karina McDade, Colin Smith, Nicholas M Morton, Don J Mahad, Giles E Hardingham, Siddharthan Chandran, Bhuvaneish T Selvara. Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis. Acta neuropathologica. vol 141. issue 2. 2021-10-25. PMID:33398403. |
mitochondrial bioenergetic deficits in c9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis. |
2021-10-25 |
2023-08-13 |
human |
| Guillaume M Hautbergue, John D Cleary, Shu Guo, Laura P W Ranu. Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. Current opinion in neurology. 2021-10-23. PMID:34392299. |
therapeutic strategies for c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-10-23 |
2023-08-13 |
Not clear |
| Guillaume M Hautbergue, John D Cleary, Shu Guo, Laura P W Ranu. Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. Current opinion in neurology. 2021-10-23. PMID:34392299. |
an intronic g4c2 expansion mutation in c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9-als/ftd). |
2021-10-23 |
2023-08-13 |
Not clear |
| Zachary T McEachin, Janani Parameswaran, Nisha Raj, Gary J Bassell, Jie Jian. RNA-mediated toxicity in C9orf72 ALS and FTD. Neurobiology of disease. vol 145. 2021-10-12. PMID:32829028. |
a ggggcc hexanucleotide repeat expansion in the first intron of c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-10-12 |
2023-08-13 |
Not clear |
| Esteban Quezada, Claudio Cappelli, Iván Diaz, Nur Jury, Nicholas Wightman, Robert H Brown, Martín Montecino, Brigitte van Zunder. BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model. Clinical epigenetics. vol 13. issue 1. 2021-09-29. PMID:33726839. |
an intronic ggggcc (g4c2) hexanucleotide repeat expansion (hre) in the c9orf72 gene is the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), referred to as c9als/ftd. |
2021-09-29 |
2023-08-13 |
mouse |
| Stina Leskelä, Nadine Huber, Dorit Hoffmann, Hannah Rostalski, Anne M Remes, Mari Takalo, Mikko Hiltunen, Annakaisa Haapasal. Expression of C9orf72 hexanucleotide repeat expansion leads to formation of RNA foci and dipeptide repeat proteins but does not influence autophagy or proteasomal function in neuronal cells. Biochimica et biophysica acta. Molecular cell research. vol 1868. issue 7. 2021-09-29. PMID:33775797. |
c9orf72 hexanucleotide repeat expansion (hre) is the major genetic cause underpinning frontotemporal lobar degeneration (fltd) and amyotrophic lateral sclerosis (als). |
2021-09-29 |
2023-08-13 |
mouse |
| Indranil Malik, Chase P Kelley, Eric T Wang, Peter K Tod. Molecular mechanisms underlying nucleotide repeat expansion disorders. Nature reviews. Molecular cell biology. vol 22. issue 9. 2021-09-28. PMID:34140671. |
expansion of a subset of these repeat tracts underlies over fifty human disorders, including common genetic causes of amyotrophic lateral sclerosis (als) and frontotemporal dementia (c9orf72), polyglutamine-associated ataxias and huntington disease, myotonic dystrophy, and intellectual disability disorders such as fragile x syndrome. |
2021-09-28 |
2023-08-13 |
human |
| Janja Božič, Helena Motaln, Anja Pucer Janež, Lara Markič, Priyanka Tripathi, Alfred Yamoah, Eleonora Aronica, Youn-Bok Lee, Raphael Heilig, Roman Fischer, Andrew J Thompson, Anand Goswami, Boris Rogel. Interactome screening of C9orf72 dipeptide repeats reveals VCP sequestration and functional impairment by polyGA. Brain : a journal of neurology. 2021-09-17. PMID:34534264. |
repeat expansions in the c9orf72 gene are a common cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration, two devastating neurodegenerative disorders. |
2021-09-17 |
2023-08-13 |
Not clear |