| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Thomas Meyer, Peggy Schumann, Patrick Weydt, Susanne Petri, Jochen H Weishaupt, Ute Weyen, Jan C Koch, René Günther, Martin Regensburger, Matthias Boentert, Maximilian Wiesenfarth, Yasemin Koc, Felix Kolzarek, Dagmar Kettemann, Jenny Norden, Sarah Bernsen, Zeynep Elmas, Julian Conrad, Ivan Valkadinov, Maximilian Vidovic, Johannes Dorst, Albert C Ludolph, Jasper Hesebeck-Brinckmann, Susanne Spittel, Christoph Münch, André Maier, Péter Körtvélyess. Clinical and patient-reported outcomes and neurofilament response during tofersen treatment in SOD1-related ALS-A multicenter observational study over 18 months. Muscle & nerve. 2024-07-20. PMID:39031772. |
in amyotrophic lateral sclerosis (als) caused by sod1 mutations (sod1-als), tofersen received accelerated approval in the united states and is available via expanded access programs (eap) outside the united states. |
2024-07-20 |
2024-07-24 |
Not clear |
| Marco Vinceti, Teresa Urbano, Tommaso Filippini, Roberta Bedin, Cecilia Simonini, Gianni Sorarù, Francesca Trojsi, Bernhard Michalke, Jessica Mandriol. Changes in Cerebrospinal Fluid Concentrations of Selenium Species Induced by Tofersen Administration in Subjects with Amyotrophic Lateral Sclerosis Carrying SOD1 Gene Mutations. Biological trace element research. 2024-07-17. PMID:39017978. |
changes in cerebrospinal fluid concentrations of selenium species induced by tofersen administration in subjects with amyotrophic lateral sclerosis carrying sod1 gene mutations. |
2024-07-17 |
2024-07-19 |
human |
| Krishna Neupane, Abhishek Narayan, Supratik Sen Mojumdar, Gaurav Adhikari, Craig R Garen, Michael T Woodsid. Direct observation of prion-like propagation of protein misfolding templated by pathogenic mutants. Nature chemical biology. 2024-07-15. PMID:39009686. |
we observed prion-like conversion in single molecules of superoxide dismutase-1 (sod1), whose misfolding is linked to amyotrophic lateral sclerosis. |
2024-07-15 |
2024-07-18 |
Not clear |
| Alexandra Weiss, James W Gilbert, Iris Valeria Rivera Flores, Jillian Belgrad, Chantal Ferguson, Elif O Dogan, Nicholas Wightman, Kit Mocarski, Dimas Echeverria, Ashley Summers, Brianna Bramato, Nicholas McHugh, Raymond Furgal, Nozomi Yamada, David Cooper, Kathryn Monopoli, Bruno M D C Godinho, Matthew R Hassler, Ken Yamada, Paul L Greer, Nils Henninger, Robert H Brown, Anastasia Khvorov. RNAi-mediated silencing of SOD1 profoundly extends survival and functional outcomes in ALS mice. bioRxiv : the preprint server for biology. 2024-07-09. PMID:38979291. |
amyotrophic lateral sclerosis (als) is a fatal neurodegenerative condition, with 20% of familial and 2-3% of sporadic cases linked to mutations in the cytosolic superoxide dismutase (sod1) gene. |
2024-07-09 |
2024-07-12 |
mouse |
| Pedro Lucas Grangeiro de Sá Barreto Lima, Eugenia Machado Couto, Paulo Ribeiro Nóbreg. Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2024-07-04. PMID:38963716. |
response letter to: a homozygous p.val120leu (c.358g > c) sod1 mutation led to slowly progressive amyotrophic lateral sclerosis in a brazilian family. |
2024-07-04 |
2024-07-11 |
Not clear |
| Andrew J Deutsch, Sherif M Elbasioun. Dysregulation of persistent inward and outward currents in spinal motoneurons of symptomatic SOD1-G93A mice. The Journal of physiology. 2024-06-26. PMID:38924530. |
given their potential role in mn excitability dysfunction in amyotrophic lateral sclerosis (als), pics have been previously studied in superoxide dismutase 1 (sod1)-g93a mice (the standard animal model of als); however, conflicting results have been reported on how the net pic changes during disease progression. |
2024-06-26 |
2024-06-29 |
mouse |
| Eiichi Tokuda, Yume Sakashita, Naoya Tokoro, Ayano Date, Yasuhiro Kosuge, Tomohiro Miyasak. MS785-MS27 Reactive Misfolded/Non-Native Zn-Deficient SOD1 Species Exhibit Cytotoxicity and Adopt Heterozygous Conformations in Motor Neurons. International journal of molecular sciences. vol 25. issue 11. 2024-06-19. PMID:38891791. |
misfolding of superoxide dismutase-1 (sod1) is a pathological hallmark of amyotrophic lateral sclerosis (als) with |
2024-06-19 |
2024-06-21 |
Not clear |
| Bocheng Xiong, Chao Yang, Xiao Yang, Song Luo, Shangming Li, Chongyang Chen, Kaiwu He, Lulin Nie, Peimao Li, Shupeng Li, Haiyan Huang, Jianjun Liu, Zaijun Zhang, Yongmei Xie, Liangyu Zou, Xifei Yan. Arctigenin derivative A-1 ameliorates motor dysfunction and pathological manifestations in SOD1 CNS neuroscience & therapeutics. vol 30. issue 6. 2024-06-14. PMID:38872258. |
arctigenin derivative a-1 ameliorates motor dysfunction and pathological manifestations in sod1 amyotrophic lateral sclerosis (als) is a severe neurodegenerative disease characterized by progressive death of upper and lower motor neurons, leading to generalized muscle atrophy, paralysis, and even death. |
2024-06-14 |
2024-06-16 |
Not clear |
| Luke McAlary, Jeremy R Nan, Clay Shyu, Mine Sher, Steven S Plotkin, Neil R Cashma. Amyloidogenic regions in beta-strands II and III modulate the aggregation and toxicity of SOD1 in living cells. Open biology. vol 14. issue 6. 2024-06-05. PMID:38835240. |
mutations in the protein superoxide dismutase-1 (sod1) promote its misfolding and aggregation, ultimately causing familial forms of the debilitating neurodegenerative disease amyotrophic lateral sclerosis (als). |
2024-06-05 |
2024-06-07 |
Not clear |
| Mario Sabatelli, Federica Cerri, Riccardo Zuccarino, Agata Katia Patanella, Daniela Bernardo, Giulia Bisogni, Raffaella Tanel, Valeria Sansone, Massimiliano Filosto, Serena Lattante, Francesco Martello, Paolo Niccolò Doronzio, Salvatore Stano, Bruno Antonio Zanfini, Michela Coccia, Emanuele Maria Costantini, Andrea Lizio, Gabriele Lucioli, Alessandro Padovani, Gian Paolo Merlini, Amelia Cont. Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients. Journal of neurology. 2024-06-03. PMID:38829431. |
in amyotrophic lateral sclerosis (als) patients with sod1 mutation the intrathecal administration of tofersen slowed down the progression of disease in a controlled clinical study, but results were not statistically significant. |
2024-06-03 |
2024-06-05 |
Not clear |
| Leanne Jiang, Timothy J Tracey, Melinder K Gill, Stephanie L Howe, Dominique T Power, Vanda Bharti, Pamela A McCombe, Robert D Henderson, Frederik J Steyn, Shyuan T Ng. Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients. Stem cell research. vol 78. 2024-05-26. PMID:38796984. |
generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial sod1, and familial c9orf72 amyotrophic lateral sclerosis (als) patients. |
2024-05-26 |
2024-05-31 |
human |
| Luan de Holanda Paranhos, Rayne Stfhany Silva Magalhães, Aline de Araújo Brasil, José Raphael Monteiro Neto, Gabriela Delaqua Ribeiro, Daniela Dias Queiroz, Vanessa Mattos Dos Santos, Elis Cristina Araujo Eleutheri. The familial amyotrophic lateral sclerosis-associated A4V SOD1 mutant is not able to regulate aerobic glycolysis. Biochimica et biophysica acta. General subjects. vol 1868. issue 8. 2024-05-25. PMID:38788983. |
in this work, using humanized saccharomyces cerevisiae cells in which its endogenous cu/zn superoxide dismutase (sod1) was replaced by human ortholog, we investigated the role of human sod1 (hsod1) in aerobic glycolysis regulation and its implications to amyotrophic lateral sclerosis (als), a neurodegenerative disease. |
2024-05-25 |
2024-05-27 |
human |
| Stefano Raffaele, Nhung Nguyen, Marco Milanese, Francesca C Mannella, Marta Boccazzi, Giulia Frumento, Giambattista Bonanno, Maria P Abbracchio, Tiziana Bonifacino, Marta Fumagall. Montelukast improves disease outcome in SOD1 British journal of pharmacology. 2024-05-16. PMID:38751168. |
montelukast improves disease outcome in sod1 amyotrophic lateral sclerosis (als) is a fatal neurodegenerative disorder characterized by progressive motor neuron (mn) loss and consequent muscle atrophy, for which no effective therapies are available. |
2024-05-16 |
2024-05-27 |
Not clear |
| Victoria K Shephard, Mikayla L Brown, Bryony A Thompson, Alisha Harpur, Luke McAlar. Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2024-05-14. PMID:38742757. |
variants of the oxygen free radical scavenging enzyme superoxide dismutase-1 (sod1) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (als). |
2024-05-14 |
2024-05-27 |
Not clear |
| José Marcelino Aragão Fernandes, Francisco de Assis Aquino Gondi. A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2024-05-09. PMID:38720484. |
a homozygous p.val120leu (c.358g > c) sod1 mutation led to slowly progressive amyotrophic lateral sclerosis in a brazilian family. |
2024-05-09 |
2024-05-27 |
Not clear |
| Leenor Alfahel, Thomas Gschwendtberger, Velina Kozareva, Laura Dumas, Rachel Gibbs, Alexander Kertser, Kuti Baruch, Shir Zaccai, Joy Kahn, Nadine Thau-Habermann, Reto Eggenschwiler, Jared Sterneckert, Andreas Hermann, Niveda Sundararaman, Vineet Vaibhav, Jennifer E Van Eyk, Victor F Rafuse, Ernest Fraenkel, Tobias Cantz, Susanne Petri, Adrian Israelso. Targeting low levels of MIF expression as a potential therapeutic strategy for ALS. Cell reports. Medicine. 2024-05-04. PMID:38703766. |
mutations in sod1 cause amyotrophic lateral sclerosis (als), a neurodegenerative disease characterized by motor neuron (mn) loss. |
2024-05-04 |
2024-05-07 |
Not clear |
| Karin Forsberg, Merete Karlsborg, Lisette Salvesen, Kirsten Svenstrup, Ivar Winroth, Henrik Berntsson, Peter M Anderse. [SOD1 gene therapy delays ALS disease progression]. Lakartidningen. vol 121. 2024-04-26. PMID:38666665. |
we present a patient with familial amyotrophic lateral sclerosis caused by an aggressive a4s mutation in the sod1 gene. |
2024-04-26 |
2024-04-28 |
Not clear |
| b' Mustafa Dogan, Kerem Teral\\xc4\\xb1, Recep Eroz, H\\xc3\\xbcseyin K\\xc4\\xb1l\\xc4\\xb1\\xc3\\xa7, Alper Gezdirici, Bur\\xc3\\xa7in G\\xc3\\xb6n\\xc3\\xbcll\\xc3\\xb. Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome. Molecular biology reports. vol 51. issue 1. 2024-04-26. PMID:38668754.' |
heterozygous variants in sod1 are responsible for a substantial percentage of familial amyotrophic lateral sclerosis (als) cases. |
2024-04-26 |
2024-04-28 |
Not clear |
| b' Francesco Liguori, Francesca Alberti, Susanna Amadio, Daniela Francesca Angelini, Eleonora Pilesi, Giuseppe Vitale, Giulia Tesoriere, Giovanna Borsellino, Fiammetta Vern\\xc3\\xac, Cinzia Volont\\xc3\\xa. Pan-neuronal expression of human mutant SOD1 in Drosophila impairs survival and motor performance, induces early neuroinflammation and chromosome aberrations. Biochimica et biophysica acta. Molecular basis of disease. 2024-04-24. PMID:38657911.' |
several mutations in the sod1 gene encoding for the antioxidant enzyme superoxide dismutase 1, are associated with amyotrophic lateral sclerosis, a rare and devastating disease characterized by motor neuron degeneration and patients' death within 2-5 years from diagnosis. |
2024-04-24 |
2024-04-28 |
human |
| Mueed Ur Rahman, Saira Bano, Xiaokun Hong, Ruo-Xu Gu, Hai-Feng Che. Early Aggregation Mechanism of SOD1 Journal of chemical information and modeling. 2024-04-23. PMID:38652017. |
early aggregation mechanism of sod1 the aggregation of superoxide dismutase 1 (sod1) results in amyloid deposition and is involved in familial amyotrophic lateral sclerosis, a fatal motor neuron disease. |
2024-04-23 |
2024-04-26 |
Not clear |