Results 31 to 40 of about 72,088 (314)

Peroxynitrite activates the NLRP3 inflammasome cascade in SOD1(G93A) mouse model of amyotrophic lateral sclerosis [PDF]

, 2017
Neuroinflammation, characterized by the appearance of reactive microglial and astroglial cells, is one of the several pathogenic mechanisms of amyotrophic lateral sclerosis (ALS), a fast-progressing and fatal neurodegenerative disease.
Adamo, Sergio, Bellezza, Ilaria, Costanzi, Egidia, Grottelli, Silvia, Mezzasoma, Letizia, Minelli, Alba, Moresi, Viviana, Morozzi, Giulio, Peirce, Matthew J., Pigna, Eva, Scarpelli, Paolo   +10 more
core   +1 more source

Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse [PDF]

Human Molecular Genetics, 2009
Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial (FALS), and approximately 25% of FALS cases are caused by mutations in Cu/Zn superoxide dismutase type 1 (SOD1). Mutant (MT) SOD1 is thought to be pathogenic because it misfolds and aggregates.
Raymond P. Roos, Han Xiang Deng, Gabriella Grisotti, Lijun Wang, Hong Zhai, Teepu Siddique   +5 more
openaire   +3 more sources

Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice

Disease Models & Mechanisms, 2020
Amyotrophic lateral sclerosis (ALS) is a terminal neurodegenerative disease. Genetic predisposition, epigenetic changes, aging and accumulated life-long environmental exposures are known ALS risk factors.
Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman   +13 more
doaj   +1 more source

Cellular analysis of SOD1 protein-aggregation propensity and toxicity: a case of ALS with slow progression harboring homozygous SOD1-D92G mutation

Scientific Reports, 2022
Mutations within Superoxide dismutase 1 (SOD1) cause amyotrophic lateral sclerosis (ALS), accounting for approximately 20% of familial cases. The pathological feature is a loss of motor neurons with enhanced formation of intracellular misfolded SOD1 ...
Masanori Sawamura, Keiko Imamura, Rie Hikawa, Takako Enami, Ayako Nagahashi, Hodaka Yamakado, Hidenori Ichijo, Takao Fujisawa, Hirofumi Yamashita, Sumio Minamiyama, Misako Kaido, Hiromi Wada, Makoto Urushitani, Haruhisa Inoue, Naohiro Egawa, Ryosuke Takahashi   +15 more
doaj   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Fractal genomics of SOD1 evolution [PDF]

Immunogenetics, 2020
AbstractTo understand the fundamental processes of gene evolution such as the impact of point mutations and segmental duplications on statistical topography, Superoxide Dismutase-1 (SOD1) orthologous sequences (n=50) were studied. These demonstrated scale invariant self-similarity patterns and long-range correlations (LRC) indicating fractal ...
openaire   +4 more sources

Familial ALS With p. L127S (L126S) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review. [PDF]

Neuropathology
ABSTRACT Herein, we report two autopsy cases of familial ALS with a p. L127S (L126S) SOD1 variant. Case 1 involved a 62‐year‐old woman who presented with lower‐extremity muscle weakness with lower motor neuron signs. The patient developed bulbar palsy and died of respiratory failure 9 years after onset.
Inoue K, Toyooka K, Fujimura H, Ueda K, Kaido M, Yamamoto Y, Izumi Y.   +6 more
europepmc   +2 more sources

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

Hepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir, Rui F. Simões, José Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jéru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip‐Buus, Vlad Ratziu, Jérémie Gautheron, Cecília M. P. Rodrigues   +16 more
wiley   +1 more source

Young-Onset Amyotrophic Lateral Sclerosis: Genetic Structure and Phenotypic Features [PDF]

Анналы клинической и экспериментальной неврологии
Introduction. Young-onset amyotrophic lateral sclerosis (yALS) is a rare neurodegenerative disease characterized by the onset of clinical manifestations before the age of 45.
Denis V. Shevchuk, Natalya Yu. Abramycheva, Arina R. Protsenko, Darya A. Grishinа, Angelina G. Makarova, Maria N. Zakharova   +5 more
doaj   +1 more source

The chaperone protein clusterin may serve as a cerebrospinal fluid biomarker for chronic spinal cord disorders in the dog [PDF]

, 2014
Chronic spinal cord dysfunction occurs in dogs as a consequence of diverse aetiologies, including long-standing spinal cord compression and insidious neurodegenerative conditions. One such neurodegenerative condition is canine degenerative myelopathy (DM)
A Brodbelt, A Felbecker, AM Lidstrom, AM Lidstrom, AM Nilselid, B Szoor, C Sihlbom, C Wang, DR Averill, EM Schrijvers, FA Wininger, GB Cherubini, GD Shelton, H Reiber, H Satoh, H Tumani, Intan N. F. Shafie, IR Griffiths, Jacques Penderis, JR Coates, JW Harvey, K Al-Saktawi, K Sasaki, L Klimaschewski, M Calero, MA Stoodley, Mark McLaughlin, Mary Ann A. Lim, O Cordero-Llana, P Montague, P Narayan, PA March, Pamela E. J. Johnston, Paul Montague, PEJ Johnston, Richard Burchmore, RP Grewal, SE Jones, T Awano, Thomas J. Anderson   +39 more
core   +1 more source